Niemann-Pick disease type A. Niemann-Pick disease type B. Niemann-Pick disease type C. Mucopolysaccharidosis type 1. Mucopolysaccharidosis type 3

UMC

Naam van Expertise Centrum

Cluster van / Specifieke aandoening

AMC

Centrum voor lysomomale stapelingsziekten Amsterdam

Gaucher disease Fabry disease Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4

AMC

Nederlands centrum voor peroxisomale ziekten

Peroxisome biogenesis disorder-Zellweger syndrome spectrum Disorder of peroxisomal alpha- - beta- and omega-oxidation Rhizomelic chondrodysplasia punctata Non-syndromic pontocerebellar hypoplasia

AMC

Vasculaire geneeskunde, AMC

Homozygous familial hypercholesterolemia Familial lipoprotein lipase deficiency Tangier disease

AMC

Centrum voor Genetische Metabole Ziekten Amsterdam (CGMA)

Disorder of galactose metabolism

Disorder of phenylalanine metabolism AMC

Centrum voor Neuromusculaire ziekten

Neuromuscular disease Motor neuron disease; amyotrophic lateral sclerosis, primary sclerosis and progressive muscular atrophy Idiopathic inflammatory myopathy, incl dermatomyositis, polymyositis, necrotizing autoimmune myopathy and inclusion body myositis Poliomyelitis Hereditary motor and sensory neuropathy

AMC AMC

AMC

AMC

Centrum voor zeldzame schildklier aandoeningen Centrum voor Endocrine tumoren van de Maag-darmpancreas Centrum voor zeldzame hypothalame en hypofysaire aandoeningen Hemofilie behandelcentrum

AMC

Centrum voor sikkelcelziekte

AMC

Centrum voor beenmergfalen

Chronic inflammatory demyelinating polyneuropathy, incl. Guillain_Barre syndrome, CIDP, MMN Congenital hypothyroidism Gastroenteropancreatic endocrine tumor

Rare hypothalamic or pituitary disease

Rare hemorrhagic disorder due to a coagulation factors defect; hemophilia Rare hemorrhagic disorder due to a coagulation factors defect; von Willebrand Disease Hemoglobinopathy; incl Sickle cell dieaseand alfa or beta thalassemia. Rare hematologic disease; incl. hematopoietic stem cell defects resulting in anemia, thrombocytopenia as comprised of medullar aplasia, rare deficiency or constitutively dyserythropoietic anemia, incl Blackfan Diamond, congenital amegakaryocytic thrombocytopenia Shwachman Diamond disease Congenital neutropenia

AMC

Centrum voor tromboembolische complicaties bij kinderen

Rare thrombotic disease of hematologic origin

* = centrum (nog) niet gekoppeld aan een ziekte op erfelijkheid.nl

UMC



AMC

GIOCA- Gastro-Intestinaal Oncologisch Centrum Amsterdam

Pancreatic tumor


Rare hepatic and biliary tract tumor; incl gallbladder tumors, Ampulla of Vater carcinoma AMC AMC AMC

Centrum voor Slokdarm en Maag Gastro-esophageal tumor Tumoren Amsterdam Centrum Gynaecologische Rare neoplastic disease Oncologie Amsterdam Centrum voor de Behandeling Short bowel syndrome, also secondary van Acuut Darmfalen Chronic intestinal failure

AMC AMC

Centrum voor Achalasie : http://www.amc.nl/ Centrum voor Cholestatische Leverziekten : http://www.amc.nl/

Sporadic achalasia

Primary biliary cirrhosis Primary sclerosing cholangitis Rare biliary tract disease; IgG4-assoc. cholangitis, auto-immune pancreatitis and IgG4related syst. dis. Low phospholipid associated cholelithiasis; ABCB4 deficiency Chronic autoimmune hepatitis

AMC

Centrum voor afweerstoornissen Rare immune disease; incl. primary immunodeficiencies (*)

AMC

Nationaal Centrum voor Primaire Primary hyperoxaluria Hyperoxalurie Centrum voor de Ziekte van Kawasaki disease Kawasaki Centrum voor Jeugdreuma en Vasculitis Autoimmuunziekten Rare rheumatologic disease; focus on all forms of juvenile idiopathic arthritis, reactive arthritis and all forms of autoinflammatory syndromes Expertisecentrum Klinische Vasculitis Immunologie en ReumatologieVasculitits CAHAL - Centrum Aangeboren Congenital heart malformation; adult congenital heart disease Hartafwijkingen AmsterdamLeiden

AMC AMC

AMC

AMC

AMC

Centrum voor Erfelijke Hartritme- Familial isolated arrhythmogenic right ventricular dysplasia en Pompfunctiestoornissen Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Genetic cardiac rhythm disease Familial dilated cardiomyopathy Peripartum cardiomyopathy Left ventricular noncompaction

AMC

Centrum voor Marfan syndroom Marfan syndrome

AMC

Nationaal Cornelia de Lange Centrum

Cornelia de Lange syndrome Rubinstein-Taybi syndrome Pitt-Hopkins syndrome Marshall-Smith syndrome

* *

UMC



AMC

Centrum voor Hereditair Angiooedeem Centrum voor Erfelijke Darmtumoren

Hereditary angioedema

AMC

Familial adenomatous polyposis Hereditary nonpolyposis colon cancer Hyperplastic polyposis syndrome

AMC

AMC

Centrum voor erfelijke bindweefsel aandoeningen bij kinderen Cystisch Fibrose Centrum Amsterdam, locatie AMC

Marfan syndrome type 1; children only

Cystic fibrosis


UMC



Erasmus MC

Centrum voor Lysosomale en Metabole Ziekten

Mucopolysaccharidosis

Neuronal ceroid lipofuscinosis Glycoproteinosis Disorder of lysosomal amino acid transport Sphingolipidosis Primary bone dysplasia with defective bone mineralization Erasmus MC

Nederlands Porfyrie Expertisecentrum

Porphyria Erythropoietic protoporphyria Acute hepatic porphyria

Erasmus MC

Centrum voor PKU, Ureumcyclus Disorder of urea cycle metabolism and ammonia detoxification Aandoeningen en Organische Aciduria Disorder of branched-chain amino acid metabolism

Erasmus MC

NeMo Centrum Expertisecentrum voor Neuromusculaire en Mitochondriële Ziekten

Neurodegeneration with brain iron accumulation

Mitochondrial disease Leber hereditary optic neuropathy MELAS syndrome Leigh syndrome Maternally-inherited progressive external ophthalmoplegia Mitochondrial neurogastrointestinal encephalomyopathy Crigler-Najjar syndrome Duchenne and Becker muscular dystrophy Alpers syndrome Erasmus MC

Centrum voor Neuroinflammatoire Aandoeningen

Paraneoplastic neurologic syndrome

Postinfectious encephalitis Limbic encephalitis CLIPPERS Inflammatory and autoimmune disease with epilepsy Morvan syndrome Isaac syndrome Erasmus MC

Pompe Centrum

Glycogen storage disease due to acid maltase deficiency - infantile onset idem - juvenile onset idem- adult onset

Erasmus MC

Neuromusculair Centrum Erasmus MC

Neuromuscular disease Guillain-Bar syndrome Chronic inflammatory demyelinating polyneuropathy

Erasmus MC

MS Centrum

Neuromyelitis optica Multiple sclerosis variant


Erasmus MC

ENCORE - Expertisecentrum voor Neurofibromatosis type 1 Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen Tuberous sclerosis Angelman syndrome Fragile X syndrome Rare pervasive developmental disorder, autism spectrum disorder Sturge-Weber syndrome Central nervous system malformation Cardiofaciocutaneous syndrome Costello syndrome

Erasmus MC

Pick Centrum

Behavioral variant of frontotemporal dementia Semantic dementia Progressive non-fluent aphasia Frontotemporal dementia with motor neuron disease Classical progressive supranuclear palsy Corticobasal degeneration Amyotrophic lateral sclerosis-parkinsonism-dementia complex Transmissible spongiform encephalopathy

Erasmus MC Erasmus MC

Oligodontie Centrum : http://www.erasmusmc.nl/ Centrum voor Larynx- en Tracheastenoses bij Kinderen

Oligodontia Congenital subglottic stenosis

Laryngo-tracheo-esophageal cleft Congenital tracheal stenosis Erasmus MC

Erasmus MC Centrum voor Endocriene Ziekten

Rare thyroid disease Rare hypothalamic or pituitary disease Rare adrenal disease Endocrine tumor

Erasmus MC

Hemofilie behandelcentrum

Hemophilia Von Willebrand disease Rare hemorrhagic disorder due to a coagulation factors defect, incl FXIII, FXI, FVII,FV deficiency and alpha2-antiplasmin def. Rare hemorrhagic disorder due to a platelet anomaly

Erasmus MC

Pediatrisch Hemofilie Behandelcentrum

Hemophilia Von Willebrand disease Rare hemorrhagic disorder due to a coagulation factors defect, incl FXIII, FXI, FVII,FV deficiency and alpha2-antiplasmin def. Rare hemorrhagic disorder due to a platelet anomaly

Erasmus MC

Sikkelcelcentrum

Sickle cell disease and related diseases Beta-thalassemia and related diseases Alpha-thalassemia and related diseases

Erasmus MC

Pediatrisch Sikkelcelcentrum

Sickle cell disease and related diseases Beta-thalassemia and related diseases Hemoglobinopathy

Erasmus MC

Leukemie en Stamceltransplantatie Centrum

Myeloid hemopathy

*

Acute lymphoblastic leukemia (adult) Erasmus MC

Behandelcentrum voor Multiple multiple myeloma Myeloom Aggressive B-cell non-Hodgkin lymphoma

Erasmus MC

Kinderneurooncologisch Centrum Hersentumorcentrum

Erasmus MC

Rare nervous system tumor Glial tumor Tumor of the meninges Primary central nervous system lymphoma Primary germ cell tumor of the central nervous system Embryonal tumor of the neuroepithelial tissue Hemangioblastoma Craniopharyngioma Tumor of cranial and spinal nerves

Erasmus MC

Academisch Borstkankercentrum Rare tumor; Hereditary Breast Cancer

Erasmus MC

Nasale, Sinonasale, Oor en Schedelbasis tumoren werkgroep

Juvenile nasopharyngeal angiofibroma Squamous cell carcinoma of head and neck; tumors arising from the epithelium of the nasal, paranasal and skull base regions Esthesioneuroblastoma Malignant melanoma of the mucosa; Sinonasal malignant melanomas Meningioma Vestibular schwannoma Glomus tumor; parangangliomas of the head and neck/skull base Neurofibroma/Neurilemomas

Erasmus MC

Rotterdam Hoofd en Hals Tumoren Werkgroep

Squamous cell carcinoma of head and neck; EBV associated tumor, digestive tumor/Salivary gland tumor, Salivary gland tumor, Cervicofacial lymphatic malformation Rare soft tissue tumor

Erasmus MC

Weke Delen Sarcoomcentrum

Erasmus MC

Kinderchirurgisch Centrum voor Congenital and syndromic diaphragmatic hernia Aangeboren Anatomische Aandoeningen Esophageal atresia Hirschsprung disease Anorectal malformation Omphalocele Gastroschisis Intestinal malformation Chronic intestinal failure

Erasmus MC

Erasmus MC Centrum voor Pancreasziekten

Hereditary chronic pancreatitis Recurrent acute pancreatitis Autoimmune pancreatitis type 1 Autoimmune pancreatitis type 2 Pancreatic tumor (2x)

Congenital pancreatic cyst Erasmus MC Erasmus MC

Rotterdamse Slokdarm- en Maagkanker Werkgroep Erasmus MC Lever Centrum

Esophageal carcinoma; incl. Barrett's oesophagus Hepatocellular adenoma Adult hepatocellular carcinoma

Klatskin tumor Erasmus MC

Afweercentrum

Primary immunodeficiency (*)

Erasmus MC

Centrum voor Allergische Systeemziekten : http://www.erasmusmc.nl/ Zeldzame Huidziekten Expertisecentrum

Rare immune disease; Systemic mastocytosis

Erasmus MC

* Netherton syndrome Systemic disease with skin involvement; Localized scleroderma and Suppurative hidradenitis Vascular anomaly or angioma (*)

Erasmus MC

Expertisecentrum voor Kinderen Systemic autoimmune disease; focus on ped. SLE, MCTD, undefined connective met Autoimmuunziekten tissue disease, Juvenile Dermatomyositis, juvenile polymyositis and (syst.) scleroderma Juvenile idiopathic arthritis

Erasmus MC

Centrum voor Zeldzame Rare systemic disease; Uveitis, Morbus Behcet, Morbus Sjogren, Systemic sclerosis Immunologische Systeemziekten Rare systemic disease; Sarcoidosis

Erasmus MC

Centrum voor Turner Syndroom Turner syndrome

Erasmus MC

Craniofaciaal Centrum Nederland

Isolated craniosynostosis Syndromic craniosynostosis; craniofrontonasal syndrome Treacher-Collins syndrome; incl. Nager and Burn-McKeown syn Cleft palate; incl cleft palate only and Pierre Robin sequence (eg Stickler, van der Woude, Wolf Hirschhorn) Rare bone development disorder; involving craniofacial presentation of fibrous dysplasia, McCune Albright, cherubism, cleidocranial dysplasia Acalvaria; including ossification defects of the skull with or without involvement of skin Goldenhar syndrome; incl. hemifacial microsomia Facial cleft

Erasmus MC

Handenteam Sophia Kinderziekenhuis

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability; Preaxiale polydactylie, Split hand and foot, Syndactyly Multiple congenital anomalies/dysmorphic syndrome without intellectual disability; Radiusdysplasie (Fanconi, TAR etc), Brachydactylie, Holt-Oram/Hart-Hand Syndrome with limb malformations as a major feature; Arthrogryposis, Syndromale polydactylie (o.a. Greig) Transversaal reductie defect Dysostosis with limb anomaly as a major feature Non-syndromic limb malformation

Erasmus MC

Expertisecentrum DSD

Erasmus MC

Expertise Centrum Spina Bifida Rotterdam

Erasmus MC

Centrum voor erfelijke hart en vaatafwijkingen

Non-syndromic limb malformation; Macrodactylie handen voeten geïsoleerd, Hemihypertrofie, Musculaire hyperplasie Disorder of sex development Total spina bifida aperta; and occult spinal disraphism and complex congenital anomalies such as VACTERL association or sacrococcygeal disorders Hypertrophic cardiomyopathy Unclassified cardiomyopathy Rare cardiac disease; rare familial occurrence of thoracic aortic abnormalities incl. dissection with (un)known genetic cause, e.g. Aneurysm-osteoarthritis syndrome

Erasmus MC Erasmus MC Erasmus MC

Centrum voor Aangeboren Hartafwijkingen Erasmus MC Expertisecentrum Prader Willi Syndroom Expertisecentrum Zeldzame Groeistoornissen

Congenital heart malformation: intervention for diseases of D-2-8, D-6-4, D-6-11, D-610, D-6-3; A-5-7 Chromosomal anomaly; Prader Willi syndrome Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7; also H19 hypomethylation chromosome 11 or unknown Non-acquired pituitary hormone deficiency; not yet known whether or which genes Non-acquired pituitary hormone deficiency; due to known GH gene and yet unknown genetic variants

Growth hormone insensitivity syndrome Erasmus MC

Expertisecentrum Erasmus MC Cardiovasculaire Genetica

Homozygous familial hypercholesterolemia

Familial lipoprotein lipase deficiency Erasmus MC Erasmus MC Erasmus MC

Erasmus MC Erasmus MC Erasmus MC

Centrum voor Cystische Fibrose Rotterdam Centrum voor Pulmonale Hypertensie Centrum voor Interstitiële Longziekten : http://www.erasmusmc.nl/ Sarcoidose Centrum : http://www.erasmusmc.nl/ Centrum voor Mesotheliomen

Cystic fibrosis

Centrum voor Bronchopulmonale Dysplasie : http://www.erasmusmc.nl/

Bronchopulmonary dysplasia

Rare respiratory disease Interstitial lung disease; adult

* Sarcoidosis

*

Mesothelioma

*

UMC



LUMC

Centrum voor Botkwaliteit

Sclerosteosis


Primary bone dysplasia with decreased bone density Primary bone dysplasia with defective bone mineralization Fibrous dysplasia of bone Sternocostoclavicular Hyperostosis Rare parathyroid disease and phosphocalcic metabolism anomaly LUMC LUMC

Zenuw Centrum : http://www.lumc.nl/ Spierziekten Centrum

Rare neurologic disease, nerve lesion

*

Neuromuscular disease Skeletal muscle disease Acquired neuromuscular junction disease Facioscapulohumeral dystrophy Oculopharyngeal muscular dystrophy Inclusion body myositis

LUMC LUMC

LUMC

LUMC LUMC

Centrum voor de Ziekte van Huntington Leiden Centrum voor Cerebrale Hereditaire Angiopathieën Afdeling Klinische Genetica Hoofdpijncentrum LUMC

Centrum voor Autonome Stoornissen Expertise centrum voor syndromen met mentale retardatie

Huntington disease CADASIL, and RVCL - HCHWA-D

Rare headache; Sporadic/Familial Hemiplegic Migraine, Visual Snow, SUNCT, Cluster Headache, Trigeminus Neuralgia, Hemicrania Continua, Paroxysmal Hemicrania, TAC nao, Hypnic Headache. Primary orthostatic hypotension, PAF, MSA Rare intellectual disability with developmental anomaly

Coffin Siris Syndrome, and other disorders of chromatin remodeling disorders LUMC LUMC

LUMC

Genderteam Leiden, CuriumLUMC : http://www.lumc.nl/ Expertisecentrum voor Monogeen Erfelijke Diabetes Mellitus Expertisecentrum voor Lipodystrofie : http://www.lumc.nl/

Rare endocrine disease, gender dysphoria

Berardinelli-Seip congenital lipodystrophy

* Familial partial lipodystrophy - Dunnigan type Familial partial lipodystrophy associated with PPARG mutations Familial partial lipodystrophy due to AKT2 mutations Familial partial lipodystrophy - bberling type Familial partial lipodystrophy associated with PLIN1 mutations Acquired generalized lipodystrophy, also called Lawrence-Seip

LUMC

CETL - Centrum Endocriene Tumoren Leiden

*

MODY syndrome

Endocrine tumor with other location Acromegaly Cushing disease Non-functioning pituitary adenoma Pituitary deficiency Hereditary pheochromocytoma-paraganglioma Thyroid tumor

Adrenocortical carcinoma Parathyroid carcinoma LUMC

Expertisecentrum Genetica van Groei

Growth disorders with a height <-3 SDS Growth disorders with a height >3 SDS Leri-Weill dyschondrosteosis/syndrome Disorders in the GH-IGF1 axis and signaling pathways IGSF1 deficiency syndrome

LUMC

Hemofiliebehandelcentrum LUMC-Haga

Hemophilia A Hemophilia B Von Willebrand disease Acquired hemophilia Acquired von Willebrand syndrome

LUMC

LUMC LUMC

Expertisecentrum Aplastische Anemie : http://www.lumc.nl/ Expertisecentrum voor Hemoglobinopathie Expertisecentrum voor Pediatrische Stamceltransplantatie

Idiopathic aplastic anemia

*

Hemoglobinopathy, incl alpha- beta-thalassemia, Sickle Cell Disease, HbS and Hb variants Combined T and B cell immunodeficiency, mainly SCID and ICF syndr

Primary immunodeficiency due to a defect in adaptive immunity Acute graft versus host disease LUMC LUMC

Centrum voor Bot- en Wekedelentumoren Centrum voor Bot- en Wekedelentumoren

Soft tissue sarcoma; Gastrointestinal stromal (cell) tumour Rare bone tumor Multiple osteochondromas Adamantinoma Rare bone tumor Chondromyxoid fibroma Osteosarcoma Ewing sarcoma Chondrosarcoma Giant cell tumor of bone Rare soft tissue tumor

LUMC

Oogoncologie Centrum Leiden

LUMC

Centrum voor Gynecologische Tumoren Leiden

Uveal melanoma

Rare cancer of the cervix uteri Rare vulvovaginal tumor; Vulvar cancer Rare cancer of the corpus uteri Rare ovarian cancer

LUMC

LUMC

Expertisecentrum Kinderoogheelkunde : http://www.lumc.nl/ Expertisecentrum Foetale Geneeskunde

Retinopathy of prematurity

* Hemolytic disease due to fetomaternal alloimmunization Twin to twin transfusion syndrome Fetal and neonatal alloimmune thrombocytopenia Fetal parvovirus syndrome Hydrops fetalis Congenital heart malformation; fetal cardiac interventions

Posterior urethral valve; Lower Urinary Tract Obstruction Non-syndromic respiratory or mediastinal malformation LUMC

Centrum voor Prenatale en Congenitale Infecties door Cytomegalovirus en Parvovirus B19 : http://www.lumc.nl/

Infectious embryofetopathy; Congenital CMV inf. and fetal and congenital parvovirus B19 inf.

LUMC

Expertisecentrum Cutane Lymfomen Expertisecentrum Zeldzame Autoinflammatoire Ziekten

Primary cutaneous lymphoma

LUMC

Systemic sclerosis Systemic autoimmune disease; neuropsychiatric manifestations of SLE Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies

LUMC

CAHAL - Centrum Aangeboren Hartafwijkingen AmsterdamLeiden

Congenital heart malformation; pediatric

Rare cardiac rhythm disease; non-genetic LUMC

Marfan Polikliniek Leiden

Marfan syndrome; including neonatal Marfan syndrome, FTAAD

LUMC

Centrum voor Erfelijke Darmtumoren

Hereditary nonpolyposis colon cancer; Lynch caused by MLH1 or MSH2 mutation Hereditary nonpolyposis colon cancer; Lynch caused by MSH6 or PMS2 mutation MUTYH-related attenuated familial adenomatous polyposis Familial adenomatous polyposis; APC associated polyposis

UMC


MUMC+

Expertisecentrum Galactosemie Galactosemia

MUMC+

Expertisecentrum Hyperostosis van de Schedel Expertisecentrum Congenitale Scoliose Expertisecentrum Ziekte van Huntington Neuromusculair Centrum

MUMC+ MUMC+ MUMC+



Osteopetrosis Early Onset Scoliosis. Huntington disease Neuromuscular disease Myotonic dystrophy Sodium channelopathy-related small fiber neuropathy Duchenne and Becker muscular dystrophy

MUMC+ MUMC+

Expertisecentrum Neurale Buisdefecten Academisch Centrum voor Epilepsie

Neural tube defect Epilepsy syndrome Continuous spikes and waves during sleep, epileptic encephalopathy Early infantile epileptic encephalopathy

MUMC+

Expertisecentrum Cerebrale Parese : http://www.mumc.nl/

Spastic diplegia - infantile type. 1. spastic unilateral cerebral palsy 2. dyskinetic cerebral palsy

MUMC+

Expertisecentrum Erfelijke Tumoren

Hereditary breast and ovarian cancer Genetic intestinal polyposis; FAP, MAP, JPS, PJS, mixed polyposis and hyperplastic polyposis syndromes Intestinal tumor

MUMC+

Expertisecentrum Genodermatosen

Inherited ichthyosis Erythrokeratoderma Lymphedema Birt-Hogg-Du syndrome Other sporadic genodermatoses

MUMC+

Expertisecentrum Zeldzame Syndromen en Cognitieve Aandoeningen

Rare developmental defect during embryogenesis

Kabuki syndrome Rett Syndrome Prader-Willi syndrome MUMC+

Expertisecentrum Cardiogenetica Rare familial disorder with hypertrophic cardiomyopathy Dilated cardiomyopathy Arrhythmogenic right ventricular dysplasia Familial long QT syndrome Idiopathic ventricular fibrillation - not Brugada type Brugada syndrome

MUMC+ MUMC+

Expertisecentrum Pulmonale Hypertensie Centrum voor Cystic Fibrosis Maastricht

Pulmonary hypertension with unclear multifactorial mechanism; auto immune mechanisms in PH, and right ventricular failure Cystic fibrosis

*

UMC


Radboudumc

Nijmegen Centrum voor Mitochondrial disease Mitochondriële Ziekten NCDG - Nijmegen Centrum voor Congenital disorder of glycosylation Defecten in de Glycosylering

Radboudumc

Radboudumc

Centrum voor Erfelijke Bewegingsstoornissen


* = centrum (nog) niet gekoppeld aan een ziekte op

Rare hereditary ataxia, mainly autosomal dominant and recessive cerebellar ataxias Hereditary spastic paraplegia

Radboudumc

Spierziektencentrum

Mainly Sjogren-Larsson syndrome, GLUT1 deficiency syndrome, and disorders of dopamine metabolism Neuromuscular disease Facioscapulohumeral dystrophy Oculopharyngeal muscular dystrophy Duchenne and Becker muscular dystrophy Myotonic dystrophy Neuralgic amyotrophy Idiopathic inflammatory myopathy Congenital myotonia and paramyotonia congentia Non-dystrophic myopathy

Radboudumc

Centrum voor Zeldzame CZS en Retinovasculaire Ziekten : https://www.radboudumc.nl

Acquired aneurysmal subarachnoid hemorrhage

Radboudumc

Hearing & Genes Centrum

Rare genetic deafness

* Usher syndrome Radboudumc

Radboud Bijniercentrum

Cushing syndrome Adrenogenital syndrome Rare primary hyperaldosteronism Primary adrenal insufficiency Adrenal/paraganglial tumor, incl Von Hippel Lindau and MEN-2 syndrome

Radboudumc

PNH Centrum

Adrenal/paraganglial tumor; except catecholamines, aldosterone or cortisol producing . Incl. incidentalomas and carcinomas Paroxysmal nocturnal hemoglobinuria

Radboudumc

Hemofilie Behandelcentrum

Rare coagulation disorder; hemophilia Rare coagulation disorder; von Willebrand Disease Rare coagulation disorder; other

Radboudumc

Radboud Centrum voor Aandoeningen van de Ijzerstofwisseling

Disorder of iron metabolism and transport, focus on hereditary hemochromatosis, FTH1-related iron overload, congenital atransferrinemia, microcytic anemia with iron overload and aceruloplasminemia Sideroblastic anemia Constitutional anemia due to iron metabolism disorder Constitutional dyserythropoietic anemia, mainly type I-IV

Radboudumc

Centrum voor Erfelijke Kanker

Hereditary breast and ovarian cancer syndrome; BRCA mutation carriers Hereditary nonpolyposis colon cancer; Lynch Syndrome Familial gastric cancer, incl her. diffuse GC APC-related attenuated familial adenomatous polyposis Inherited cancer-predisposing syndrome; pediatric

Radboudumc

Centrum voor Schilkliercarcinoom

Thyroid tumor

Radboudumc

Schedelbasis Werkgroep Nijmegen

Rare tumor; different very rare skull base tumors Rare nervous system tumor; acoustic neuroma; cerebello pontine angle tumor; including NF2 patients Tumor of endocrine glands; Hereditary pheochromocytoma-paraganglioma

Radboudumc

Pediatrisch Colorectaal Centrum High anorectal malformation Intermediate anorectal malformation Low anorectal malformation Anal fistula VACTERL/VATER association Caudal regression sequence Hirschsprung disease Cloacal exstrophy

Radboudumc

Ophthalmogenetisch Centrum

Genetic vitreous-retinal disease Choroideremia Stargardt disease and other ABCA4-related diseases Retinal dystrophy; central serous retinopathy Leber congenital amaurosis

Radboudumc

Radboudumc

Levercysten Centrum: http://www.umcn.nl/zorg/afdeli ngen/maagdarmenleverziekten/ Isolated polycystic liver disease Pages/default.aspx Nijmegen Centrum voor Primary immunodeficiency Immuundeficiëntie en Autoinflammatie

*

Autoinflammatory syndrome with immune deficiency Immunodeficiency due to a complement cascade protein anomaly Schnitzler syndrome Mevalonate kinase deficiency = Hyper IgD Syndrome (HIDS) Radboudumc

Referentie Centrum voor Aspergillosis; chronic aspergillosis and ABPA Schimmelinfecties : http://www.umcn.nl/Pages/defa ult.aspx Chronic mucocutaneous candidiasis Rare mycosis; in patients with hyper IgE syndrome Rare mycosis; in patients with chronic granulomatous dis. Aspergillosis

Radboudumc

Radboud Centrum voor Zeldzame Nierziekten

Glomerular disease Rare renal tubular disease Familial cystic renal disease; all cystic kidney dis. in children, incl. ciliopathies/nephronophtises Renal or urinary tract malformation Cystinosis Rare renal disease; Thrombotic microangiopathy (level ontbrak in form voor ref)

Radboudumc

Centrum voor Zeldzame Ontwikkelingsstoornissen

Kleefstra syndrome due to a point mutation Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PTEN hamartoma tumor syndrome KBG syndrome Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability

*

Syndromic obesity Radboudumc

Craniofacial team Nijmegen

Cranial malformation Craniosynostosis

Radboudumc

Radboud DSD Centrum

46 -XX disorder of sex development induced by fetal androgens excess 46 -XY disorder of sex development Turner syndrome

Radboudumc

Marfan Polikliniek

Marfan syndrome Loeys-Dietz syndrome Familial thoracic aortic aneurysm and aortic dissection

Radboudumc

HECOVAN - Centrum voor Hemangiomen en Congenitale Vaatmalformaties Nijmegen

Vascular tumor; incl complicated hemangiomas

Venous malformation Lymphatic system malformation Arteriovenous malformation Complex - combined vascular malformation; incl Klippel-Trenaunay-syndrome Radboudumc

Urologie Centrum

Bladder exstrophy; incl. cloacal exstrophy and epispadias Agenesis and aplasia of uterine body; Cloacal anomalies and anal atresia in combination with uronary tract anomalies Non-syndromic urogenital tract malformation of male and female; e.g. in spina bifida Posterior urethral valve Posterior hypospadias

UMC


UMCG

Expertisecentrum voor Disorder of phenylalanin or tyrosine metabolism Fenylketonurie en Tyrosinemie type I Expertisecentrum voor Defecten Glycogen storage disease due to glucose-6-phosphatase deficiency type a in het Levergebonden Glycogeen Metabolisme

UMCG



Glycogen storage disease due to glucose-6-phosphatase deficiency type b Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease Glycogen storage disease due to liver glycogen phosphorylase deficiency UMCG

Expertisecentrum voor M(C)ADD Medium chain acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenation deficiency - severe neonatal type Multiple acyl-CoA dehydrogenation deficiency - mild type

UMCG UMCG

Expertisecentrum voor Serine Deficiënties Neurovasculaire Werkgroep UMCG : http://www.umcg.nl/

Neurometabolic disorder due to serine deficiency Cerebral malformation, intracranial dural AV-fistula

* Spinal arteriovenous shunts Cerebral malformation, brainstem cavernomas Cerebral malformation, proliferative angiopathy

UMCG

Expertisecentrum Bewegingsstoornissen

Rare dystonia: myoclonus, focal,generalised, dopa responsive Hyperekplexia Neurodegeneration with brain iron accumulation; a.o. PKAN Rare myoclonus; myoclonus dystonia GOSR2 and FCMTE Psychogenic movement disorders Autosomal dominant cerebellar ataxia, incl recessive ataxias Paroxysmal dyskinesia Inherited congenital spastic tetraplegia Rare choreic movement disorder, huntington's disease Neurometabolic disease, related tot movement disorders

UMCG

Expertisecentrum Groningen Papilloma Studies : http://www.umcg.nl/

Recurrent respiratory papillomatosis

UMCG

Bijniercentrum UMCG

Catecholamine-producing tumor, incl. pheochromocytoma/ paraganglioma and nonsecreting head and neck paragangliomas

UMCG

Hemofilie Behandelcentrum UMCG

* Rare primary hyperaldosteronism Rare hemorrhagic disorder; hemophilia Rare hemorrhagic disorder; von Willebrand Disease Rare hemorrhagic disorder: other allied bleeding disorders

UMCG

Mastocytosecentrum Nederland Mastocytosis : http://www.umcg.nl/

UMCG

Werkgroep Hoofd-HalsOncologie Werkgroep Neuro-Oncologie Volwassenen Centrum voor Carcinoïd/Neuroendocriene Carcinomen

UMCG UMCG

Squamous cell carcinoma of head and neck Glial tumor Carcinoid tumor and carcinoid syndrome

*

UMCG UMCG UMCG UMCG

Centrum voor Familiaire Tumoren Centrum voor Schildkliercarcinoom Polikliniek Erfelijk MammaOvarium Carcinoom Familiaire Darmkanker Kliniek

Inherited cancer-predisposing syndrome; incl VHL, MEN1, MEN2 and familial paraganglioma/PCC. Thyroid tumor Hereditary breast and ovarian cancer syndrome; BRCA1 BRCA2 Hereditary nonpolyposis colon cancer Familial adenomatous polyposis; incl FAP and MUTYH

UMCG UMCG

Expertisecentrum Kiemcel Tumoren Expertisecentrum Weke Delen en Bottumoren

Testicular germ cell tumor Osteosarcoma soft tissue sarcomas

UMCG

Kinderneuro-oncologie Werkgroep

Medulloblastoma; and PNET Rare nervous system tumor; pediatric CNS tumours

UMCG

Expertisecentrum Gynecologische Oncologie UMCG

Rare vulvovaginal tumor; squamous cell carcinoma of vulva Rare cancer of the cervix uteri; incl. squamous cell carcinoma Malignant epithelial tumor of ovary; different types adenocarcinoma

UMCG UMCG

UMCG

UMCG

UMCG

UMCG UMCG

Centrum voor Slokdarm- en Esophageal adenocarcinoma Maagcarcinoom Darmrevalidatie en Chronic intestinal failure Transplantatie Centrum : http://www.umcg.nl/ Expertisecentrum voor Biliary atresia Neonatale Leverziekten, Lever Chirurgie en Lever Transplantatie KinderreumatologischImmunologisch Diagnostiek en Behandelcentrum : http://www.gronitis.nl/ Tuberculose Centrum Beatrixoord : http://www.umcg.nl/ Expertisecentrum voor Erfelijke Cystenieren Centrum voor Blaarziekten

*

Juvenile idiopathic arthritis

* Tuberculosis

* Familial cystic renal disease Inherited epidermolysis bullosa Autoimmune bullous skin disease; all forms of pemphigus and pemfigoid

UMCG

GUARD - Groningen Unit voor Amyloïdose Research & Development

Primary systemic amyloidosis

Primary localized amyloidosis Secondary amyloidosis Familial amyloid polyneuropathy Transthyretin-related familial amyloid cardiomyopathy Senile systemic amyloidosis UMCG

Vasculitis Expertisecentrum

Granulomatosis with polyangiitis Microscopic polyangiitis Eosinophilic granulomatosis with polyangiitis Takayasu arteritis Giant cell arteritis

UMCG

UMCG

Expertisecentrum Sjögren : http://www.umcg.nl/

Systemic autoimmune disease; Sjögren (including MALT lymphoma)

Bindweefselpolikliniek

Tumor of hematopoietic and lymphoid tissues; MALT lymphoma associated with Sjögren's disease Marfan syndrome

*

UMCG UMCG UMCG UMCG UMCG

Multidisciplinaire CHARGE Polikliniek Chromosomenpolikliniek Expertisecentrum Erfelijke Hartzieken Centrum voor Congenitale Hartafwijkingen Nederlands Expertisecentrum voor Lymfovasculaire Geneeskunde

CHARGE syndrome Autosomal anomaly; wide diversity of chromosomal deletions and duplications (and not the more common trisomies) Familial isolated arrhythmogenic ventricular dysplasia - biventricular form Congenital heart malformation Primary lymphedema

Syndromic lymphedema UMCG UMCG

Expertisecentrum voor Pulmonale Hypertensie Cystisch Fibrose Centrum Groningen

Pulmonary arterial hypertension Cystic fibrosis

UMC



UMCU

Centrum voor Erfelijke Metabole Disorder of fatty acid oxidation and ketone body metabolism Ziekten Disorder of pyridoxine metabolism

UMCU

Hersencentrum Neuromusculaire Ziekten

Neuromuscular disease; ALS, PLS, Progressive Spinal Muscular Atrophy and polyneuropathy

UMCU

Centrum voor Refractaire Kinderepilepsie

Rare epilepsy Tuberous sclerosis Continuous spikes and waves during sleep and ESES Genetic causes of refractory pediatric epilepsy

UMCU

Expertisecentrum voor Aangeboren Gelaats- en Tandafwijkingen

Rare odontologic disease; oligodontia

22q11.2 deletion syndrome Isolated Pierre Robin syndrome Hemifaciale microsomie & Microtie UMCU

Geslachtelijke Ontwikkelingsstoornis Centrum UMC Utrecht

Disorder of sex development, 46 XX and 46XY DSD

DSD in “special need” adoption children

UMCU

Van Creveldkliniek Expertisecentrum voor Benigne Hematologie, Trombose en Hemostase

DSD, Müllerian tract abnormalities; Mayer-Rokitansky syndrome; extrophia vesicae; epispadia; perineal hypospadia Rare hemorrhagic disorder due to a coagulation factors defect; hemophilia

Rare hemorrhagic disorder due to a coagulation factors defect; von Willebrand Disease Rare hemorrhagic disorder due to a coagulation factors defect; deficiency of factor II/ V/ VII/X/XI Rare hemorrhagic disorder due to a coagulation factors defect; antiplasmin deficiency Rare anemia Rare constitutional medullar aplasia; Fanconi, Diamond-Blackfan anemia and congenital neutropenia Rare hemorrhagic disorder; Congenital and acquired platelet disorders UMCU

Expertisecentrum voor Maligne Hematologie

Myeloproliferative neoplasm ; Polycytemia vera (PV) and Essential thrombocythemia (ET) Myeloid hemopathy; AML/RAEB-T, RAEB, Myelodysplasia and remaining diseases Myeloproliferative neoplasm; CML Myeloid hemopathy, ao CMMol / Myelofibrosis/ eosinophilic disorders Plasma cell tumor; MM/ Amyloidosis and Monoclonal gammopathy( MGUS) Lymphoma; NHL, Hodgkin, CLL, Waldenstrom, hairycell and other lymfoproliferative diseases Primary central nervous system lymphoma Acute lymphoblastic leukemia Systemic mastocytosis Myeloid hemopathy; HES and Langerhanscel histiocytose

UMCU

Expertisecentrum Zeldzame Tumoren

Inherited cancer-predisposing syndrome Multiple endocrine neoplasia type 2A; incl. fam medullary thyroid carcinoma, MEN2B and sporadic medulary thyroid carcinoma


Von Hippel-Lindau disease UMCU

Expertisecentrum voor Genetische Ziekten van de Tractus Digestivus

Progressive familial intrahepatic cholestasis

Wilson disease Intractable diarrhea of infancy; due to genetic defects UMCU

Ophthalmologie Uveïtis Groep : http://www.umcutrecht.nl/

Anterior uveitis; (non) infectious

* Posterior uveitis; (non) infectious and in syst dis. Systemic diseases with panuveitis Rare inflammatory eye disease Intermediate uveitis; (non) infectious

UMCU

Expertise Centrum Primaire Immuundeficienties

Immunodeficiency predominantly affecting antibody production; incl. CVID, XLA, other types of complete agammaglobulinemia Immunodeficiency predominantly affecting antibody production; incl. SADNI, IgG subclass- and IgA def. Primary immunodeficiency due to a defect in adaptive immunity; B and T cell immunodeficiencies: SCID, CID Primary immunodeficiency due to a defect in innate immunity Primary hemophagocytic lymphohistiocytosis Graft versus host disease

UMCU

Expertisecentrum Systemische Autoimmuunziekten

Juvenile idiopathic arthritis

Periodic fever syndrome, incl. CAPS, FMF, behcet, Traps, Pfapa Juvenile dermatomyositis Pediatric systemic lupus erythematosus Vasculitis Systemic sclerosis Systemic autoimmune disease; SLE Rare coagulation disorder; Antiphospholipid syndrome Systemic autoimmune disease; extraglandular manifestations in Sjogren UMCU

Kinderchirurgisch Centrum voor Esophageal atresia Aangeboren Afwijkingen

UMCU

Expertisecentrum voor Rare bone disease; m.n. primaire skeletdysplasieen en dysostoses, ook osteogenesis Aanlegstoornissen van het Skelet imperfecta en achondroplasie

UMCU

Kinderhartcentrum WKZ

UMCU

Centrum voor Tubereuze Rare genetic neurological disorder; Tubererous Sclerosis Complex Sclerose Complex Cystic Fibrosis Centrum Utrecht Cystic fibrosis

UMCU UMCU

Centrum voor Erfelijke en Aangeboren Nier- en Urinewegaandoeningen

Congenital heart malformation

Rare renal disease; congenital or inherited renal or urinary tract disease

Familial cystic renal disease; nephronophthisis, as feature of i.e. Joubert and Meckel or isolated or part of other ciliopathies. Non-syndromic renal or urinary tract malformation; CAKUT

UMC



VUmc

Centrum voor Genetische Metabole Ziekten Amsterdam, locatie Vumc Centrum voor KinderWittestofziekten Expertisecentrum voor Osteogenesis Imperfecta Centrum voor Obstetrisch Plexus Brachialis Letsel : http://www.vumc.nl/ Centrum voor Kinderrevalidatiegeneeskunde : http://www.vumc.nl/ Centrum voor Kinderkaakchirurgie Expertisecentrum Hoofd-Hals Oncologie

Disorder of creatine biosynthesis

VUmc VUmc VUmc

VUmc

VUmc VUmc


Rare neurologic disease Primary bone dysplasia with decreased bone density Rare neurologic disease; obstetric brachial plexus lesions

* Spastic diplegia - infantile type

* Rare odontologic disease,Robin sequence Nasopharyngeal carcinoma Malignant salivary gland tumors

VUmc

Coeliakie Centrum

Refractory celiac disease

VUmc

Centrum voor Zeldzame Hematologische Maligniteiten

Acute myeloid leukemia

Multiple myeloma; incl Amyloidosis, Castlemans disease and POEMS Myelofibrosis with myeloid metaplasia Chronic myeloid leukemia Myelodysplastic syndromes Acute lymphoblastic leukemia Hodgkin lymphoma Enteropathy-associated T-cell lymphoma Aggressive B-cell non-Hodgkin lymphoma Langerhans cell histiocytosis VUmc

Nederlands Centrum voor Orale Ziekten en Orale Pathologie

Squamous cell carcinoma of head and neck; malignant disorders of oral mucosa Squamous cell carcinoma of head and neck; Ameloblastomas and Keratocystic odontogenic tumors, Gorlin-Goltz syndrome

VUmc

Centrum voor Hersentumoren

VUmc

Retinoblastoom Centrum Nederland Expertisecentrum Neuroftalmologie : http://www.vumc.nl/

VUmc

Rare tumor; Brain Tumors

*

Retinoblastoma Neuromyelitis optica: autoimmune optic neuropathies incl. NMO, CRION, RION, ION, MSON

*

Paraneoplastic neurologic syndrome; optic neuropathies relevant to DD of CRION, RION and NMO-SD Adult-onset myasthenia gravis; ocular MG Idiopathic intracranial hypertension; loss of vision due to IIH Acute zonal occult outer retinopathy

VUmc

VUmc

Rare acquired eye disease; non embolic transient monocular visual field loss (=amaurosis fugax) Expertisecentrum Preeclampsie: Preeclampsia http://www.vumc.nl/ Centrum voor Systemische Sclerose en Systemische Lupus Erythematosus

Systemic sclerosis

Systemic autoimmune disease; SLE

*

VUmc

Nefrologie Centrum voor Kinderen

Idiopathic nephrotic syndrome Non-syndromic renal or urinary tract malformation; CAKUT

VUmc

Schisisteam

VUmc

Birt-Hogg-Dubé Werkgroep

VUmc

Expertisecentrum voor Fibrodysplasia Ossificans Progressiva VUmc Multidisciplinair Borstkanker Team Down Centrum Nederland, locatie West Centrum voor Erfelijk Darmkanker

Rare developmental defect during embryogenesis; cleft lip and palate Inherited renal cell cancer-predisposing syndrome; Birt-Hogg-Dubé syndrome

VUmc VUmc VUmc

Fibrodysplasia ossificans progressiva

Rare genetic tumor; Hereditary breast cancer, CHEK2*1100delC related Down syndrome Hereditary nonpolyposis colon cancer Genetic intestinal polyposis

VUmc

VUMC PH Centrum

Rare pulmonary hypertension; many subforms of PH; associated: collagen vascular disease, Hereditary PH, IPAH, type III WHO associated with emfysema. Chronic thromboembolic pulmonary hypertension

VUmc

Cystisch Fibrose Centrum Amsterdam, locatie Vumc

Cystic Fibrosis

VUmc

PCD Centrum Vumc

Primary ciliary dyskinesia

Niemann-Pick disease type A. Niemann-Pick disease type B. Niemann-Pick disease type C. Mucopolysaccharidosis type 1. Mucopolysaccharidosis type 3

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