Utrecht
naam | gen | details aandoening (OMIM) |
3-Phosphoglyceraat Dehydrogenase deficiëntie | PHGDH | 601815 |
46XY sex reversal type 3 (SRXY3) | NR5A1 | 612965 |
Action Myoclonus-Renal Failure syndroom (AMRF) | SCARB2 | 254900 |
Agammaglobulinemie, X-gebonden | BTK | 300300 |
AID deficiëntie | AICDA | 605257 |
Alstrom syndroom (ALMS) | ALMS1 | 203800 |
Alveolaire Capillaire Dysplasie met Misalignment van de Pulmonair Venen (ACDMPV) | FOXF1 | 265380 |
Amyotrofe Lateraal Sclerose | FUS | 137070 |
Amyotrofe Lateraal Sclerose | TARDBP | 605078 |
Amyotrofe lateraal sclerose (ALS) | UBQLN2 | 300857 |
Amyotrofe Lateraal Sclerose (ALS1) | SOD1 | 105400 |
Amyotrofe Lateraal Sclerose (ALS9) | ANG | 611895 |
Amyotrofe Lateraal Sclerose (Juveniel) ALS2 | ALS2 (ALSIN) | 205100 |
Amyotrofe Lateraal Sclerose 8; ALS8 | VAPB | 608627 |
Amyotrophic lateral sclerosis 11; ALS11 | FIG4 | 612577 |
Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia | VCP | 613954 |
Amyotrophic lateral sclerosis 4, juvenile (ALS4) | SETX | 602433 |
Angioneurotisch oedeem | SERPING1 | 106100 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 | TGFB3 | 107970 |
Atrium septum defect met atrioventriculaire geleidingsstoornis | NKX2.5 | 108900 |
Atypisch Hemolitisch Uremisch Syndroom 2 (AHUS2) | CD46 | 612922 |
Auto-immuun lymfoproliferatief syndroom (ALPS), type 1a | FAS | 134637 |
Auto-immuun lymfoproliferatief syndroom (ALPS), type 1b | FASL | 134638 |
Auto-immuun lymfoproliferatief syndroom (ALPS), type 2a | CASP10 | 601762 |
Autoimmuun polyendocrinopathie syndroom, type 1 (APS1) | AIRE | 240300 |
Autoinflammatoir syndroom, koude geinduceerd | NLRP3 | 120100 |
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) | CHRNA4 | 600513 |
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) | CHRNB2 | 605375 |
Azoö/oligozoöspermie (Y-deleties) | AZF genen | 400003 |
Benigne familiaire infantiele convulsies (BFIC) | PRRT2 | 614386 |
Bijnierhypoplasie, congenitale (AHC) | NR0B1 | 300200 |
Biotinidase deficiëntie | BTD | 253260 |
Blau syndroom | NOD2 | 186580 |
Borst- en ovariumkanker, erfelijk (BRCA1) | BRCA1 | 604370 |
Borst- en ovariumkanker, erfelijk (BRCA2) | BRCA2 | 612555 |
Branchio-oto-renaal (BOR) syndroom | SIX1 | 608389 |
Branchio-oto-renaal (BOR) syndroom | EYA1 | 113650 |
Branchiootic syndrome (BOS) | EYA1 | 602588 |
Branchiootorenal syndrome (BOR2) | SIX5 | 610896 |
Candidiasis, erfelijk type 2 | CARD9 | 212050 |
Candidiasis, familiaire type 5 (CANDF5) | IL17RA | 613953 |
Candidiasis, familiaire type 6 (CANDF6) | IL17F | 613956 |
Candidiasis, familiaire type 7 (CANDF7) | STAT1 | 614162 |
Cardiomyopathie, Aritmogeen rechter ventrikel dysplasie (ARVD/C9) | PKP2 | 609040 |
Cardiomyopathie, aritmogeen rechter ventrikel dysplasie (ARVD10) | DSG2 | 610193 |
Cardiomyopathie, Aritmogeen rechter ventrikel dysplasie (ARVD11) | DSC2 | 610476 |
Cardiomyopathie, Aritmogeen rechter ventrikel dysplasie (ARVD12) | JUP | 611528 |
Cardiomyopathie, Aritmogeen rechter ventrikel dysplasie (ARVD5) | TMEM43 | 604400 |
Cardiomyopathie, Aritmogeen rechter ventrikel dysplasie (ARVD8) | DSP | 607450 |
Cardiomyopathie, dilaterende (CMD1A) | LMNA | 115200 |
Cardiomyopathie, dilaterende (CMD1D) | TNNT2 | 601494 |
Cardiomyopathie, dilaterende (CMD1P) | PLN | 609909 |
Cardiomyopathie, dilaterende (CMD1S) | MYH7 | 613426 |
Cardiomyopathie, dilaterende (CMD1Y) | TPM1 | 611878 |
Cardiomyopathie, dilaterende / hypertrofe | CASQ2 | 115200 |
Cardiomyopathie, dilaterende type 1I (CMD1I) | DES | 604765 |
Cardiomyopathie, dilaterende type 1R (CMD1R) | ACTC1 | 613424 |
Cardiomyopathie, dilaterende, hypertrofe | FHL1 | 300696 |
Cardiomyopathie, dilaterende, type 1N (CMD1N) | TCAP | 607487 |
Cardiomyopathie, hypertrofe | TNNC1 | 192600 |
Cardiomyopathie, hypertrofe | MYOZ2 | 605602 |
Cardiomyopathie, hypertrofe | TCAP | 192600 |
Cardiomyopathie, hypertrofe, type 1 | MYH7 | 192600 |
Cardiomyopathie, hypertrofe, type 11 (CMH11) | ACTC1 | 612098 |
Cardiomyopathie, hypertrofe, type 2 | TNNT2 | 115195 |
Cardiomyopathie, hypertrofe, type 3 (CMH3) | TPM1 | 115196 |
Cardiomyopathie, hypertrofe, type 4 | MYBPC3 | 115197 |
Cardiomyopathie, hypertrofe, type10 (CMH10) | MYL2 | 608758 |
Cardiomyopathie, hypertrofische, type 7 (CMH7) | TNNI3 | 191044 |
Cardiomyopathie, restrictieve | TNNI3 | 115210 |
Cataract & Cardiomyopathie, dilaterende | CRYAB | 123590 |
Catecholaminergic induced polymorphic ventrikel fibrillation type2 (CPVT2) | CASQ2 | 611938 |
CD3γ-deficiënte SCID | CD3G | 186740 |
CD3δ-deficiënte SCID | CD3D | 186790 |
CD3ε-deficiënte SCID | CD3E | 186830 |
CD40 ligand deficiëntie | CD40LG | 300386 |
Cerebral Cavernous Malformations 1 (CCM1) | KRIT1 | 604214 |
Cerebral Cavernous Malformations 3 (CCM3) | PDCD10 | 603285 |
Cholestase, progressieve familiaire intrahepatische type 1 (PFIC1) | ATP8B1 | 211600 |
Cholestase, progressieve familiaire intrahepatische type 2 (PFIC2) | ABCB11 | 601847 |
Cholestase, progressieve familiaire intrahepatische type 3 (PFIC3) | ABCB4 | 602347 |
CINCA syndroom | NLRP3 | 607115 |
Cleft lip or palate | IRF6 | 607199 |
Cleft lip or palate | SUMO1 | 601912 |
Cleft palate with ankyloglossia | TBX22 | 300307 |
Cleidocraniale Dysplasie (CCD) | RUNX2 | 119600 |
Congenital Amegakaryocytic Thrombocytopenia (CAMT) | MPL | 604498 |
Congenital Disorder of Glycosylation (CDG1A) | PMM2 | 212065 |
Congenital heart disease | GATA6 | 601656 |
Congenital heart disease | GATA5 | 611496 |
Cryptogene progressieve myoclone epilepsie | KCTD7 | 611726 |
Currarino, Trias van | HLXB9 | 176450 |
Diabetes insipidus, centrale | AVP | 125700 |
Diabetes insipidus, nefrogene, autosomaal dominant | AQP2 | 125800 |
Diabetes insipidus, nefrogene, autosomaal recessief | AQP2 | 125800 |
Diabetes insipidus, nefrogene, X-gebonden | AVPR2 | 304800 |
Early Infantile Epileptic Encephalopathy type 10 | PNKP | 613402 |
Early Infantile Epileptic Encephalopathy type 8 | ARHGEF9 | 300088 |
Early infantile epileptic encephalopathy, type 1 | ARX | 308350 |
Early infantile epileptic encephalopathy, type 11 | SCN2A | 613721 |
Early infantile epileptic encephalopathy, type 2 | CDKL5 | 300672 |
Early infantile epileptic encephalopathy, type 3 | SLC25A22 | 609304 |
Early infantile epileptic encephalopathy, type 4 | STXBP1 | 612164 |
Early infantile epileptic encephalopathy, type 6 | SCN1A | 607208 |
Early infantile epileptic encephalopathy, type 7 | KCNQ2 | 613720 |
Early infantile epileptic encephalopathy, type 9 | PCDH19 | 300088 |
Ectodermale Dysplasie | WNT10A | 257980 |
Ehlers-Danlos syndrome, the musculocontractural type | CHST14 | 601776 |
Emery-Dreifuss, spierdystrofie, type 6 (EDMD6) | FHL1 | 300696 |
Epilepsie | GABRG2 | 607681 |
Epilepsie | SCN1B | 600235 |
Epilepsie, Autosomaal Dominante Laterale Temporaalkwab Epilepsie (ADLTE) | LGI1 | 600512 |
Epilepsie, Benigne Familiaire Neonatale Convulsies (BFNC) | KCNQ2 | 121200 |
Epilepsie, Benigne Familiaire Neonatale Convulsies 2 (BFNC2) | KCNQ3 | 121201 |
Epilepsie, Generalized with Febrile Seizures Plus (GEFS) | SCN1A | 604233 |
Epilepsie, Progressieve Myoclonische type 1 (EPM1)(Unverricht Lundborg disease) | CSTB | 254800 |
Epilepsie, Progressieve Myoclonische type 2A (EPM2A) (Lafora disease) | EPM2A | 254780 |
Epilepsie, Progressieve Myoclonische type 2B (EPM2B) (Lafora disease) | NHLRC1 | 254780 |
Epilepsie, pyridoxine afhankelijk | ALDH7A1 | 266100 |
Fabry, ziekte van | GLA | 301500 |
Familial Vesicoureteral Reflux, VUR2 | ROBO2 | 610878 |
Female restricted epilepsy with mental retardation (EFMR) | PCDH19 | 300088 |
Fenylketonurie (PKU) | PAH | 261600 |
Fenylketonurie type III | PTPS | 261640 |
Feochromocytomen, erfelijke | MAX | 171300 |
Floating-Harbor Syndroom | SRCAP | 136140 |
FMTC | RET | 155240 |
Focal segmental glomerulosclerosis 5 (FSGS5) | INF2 | 613237 |
Focale segmentale glomerulosclerosis 2; FSGS2 | TRPC6 | 603965 |
Focale Segmentale Glomerulosclerosis 3; FSGS3 | CD2AP | 607832 |
Fragiel X syndroom (FRAXA) | FMR1 | 300624 |
Fraser syndroom | FRAS1 | 607830 |
Fraser syndroom | FREM2 | 608945 |
Frontotemporal dementia (FTD) | C9ORF72 | 600274 |
Frontotemporal dementia (FTD) | GRN | 607485 |
Frontotemporale dementie (FTD), ziekte van Pick | MAPT | 172700 |
Gitelman syndroom | SLC12A3 | 263800 |
GLUT1 deficiëntie, glucose transport defect | SLC2A1 | 606777 |
Glycerolkinase deficiëntie | GK | 307030 |
Glycine Encephalopathie/ Non-ketotische hyperglycinemie / Aminomethyltransferase deficiëntie | AMT | 605899 |
Glycine Encephalopathie/ Non-ketotische hyperglycinemie / Glycine cleavage system H-protein deficiency | GCSH | 605899 |
Glycine Encephalopathie/ Non-ketotische hyperglycinemie / Glycine decarboxylase deficiëntie | GLDC | 605899 |
Glycogeenstapelingsziekte type 2 (ziekte van Pompe) | GAA | 232300 |
Hartnup disorder | SLC6A19 | 234500 |
Hemochromatose, type 1 | HFE | 235200 |
Hemofagocyterende lymfo histiocytose (HLH) type 2 | PRF1 | 170280 |
Hemofagocyterende lymfo histiocytose (HLH) type 3 | UNC13D | 608897 |
Hemofagocyterende lymfo histiocytose (HLH) type 4 | STX11 | 605014 |
Hemofagocyterende lymfohistiocytose type 5 | STXBP2 | 613101 |
Hemofilie A | FVIII | 306700 |
Hemolytisch Uremisch syndroom | CFI | 612923 |
Holt-Oram syndroom | TBX5 | 142900 |
HPRT-gerelateerde jicht & Lesch-Nyhan syndroom | HPRT1 | 300323 |
Hydatidiform mole, NLRP7 | NLRP7 | 231090 |
Hyper IgD syndroom (mevalonaat kinase deficiëntie) | MVK | 260920 |
Hyper IgE recurrent infection syndrome, autosomal dominant | STAT3 | 147060 |
Hypodontia | PAX9 | 106600 |
Hypodontie, autosomaal dominant | MSX1 | 106600 |
Hypoparathyroidism, Sensorineural deafness and renal disease (HDR) | GATA3 | 146255 |
ICOS deficiëntie | ICOS | 604558 |
IL1RN deficiëntie (DIRA) | IL1RN | 147679 |
Inclusielichaam myopathie met vroegtijdige ziekte van Paget en frontotemporale dementia | VCP | 167320 |
Inflammatoire Arthritis | PLCG2 | 614468 |
Interstitiële longfibrose en congenitaal nefrotisch syndroom | ITGA3 | 605025 |
Joubert Syndroom type 1 | NPHP1 | 213300 |
Joubert syndroom type 12 | KIF7 | 200990 |
Joubert Syndroom type 3 | AHI1 | 608629 |
Leptin receptor; lepr obesity, morbid, with hypogonadism, included | LEPR | 601007 |
Lesch-Nyhan syndroom | HPRT1 | 308000 |
Leukemie, acute myeloide (AML), familiaire | RUNX1 | 151385 |
Leukemie, acute myeloide (AML), familiaire | CEBPA | 116897 |
Lymfoproliferatief syndroom, X-gebonden (XLP) | XIAP | 300079 |
Lynch Syndroom (HNPCC) | MLH1 | 609310 |
Lynch Syndroom (HNPCC) | MSH2 | 120435 |
Lynch Syndroom (HNPCC) | MSH6 | 600678 |
Mannelijke infertiliteit, DSD, POF. | NR5A1 | 184757 |
MCAD deficiëntie (midden lang ketenacyl-CoA dehydrogenase) | ACADM | 201450 |
McCune-Albright syndroom (MAS) | GNAS | 174800 |
Mediterrane koorts, familiaire | MEFV | 249100 |
Mentale retardatie met epilepsie, X-gebonden | ARX | 308350 |
Mentale retardatie, autosomaal dominant, type 20 (stereotypic movements, epilepsy, cerebral malfomations | MEF2C | 613443 |
Metachromatische leukodystrofie | ARSA | 250100 |
Methylmalonic aciduria (cobalamin deficiency), type cblA | MMAA | 251100 |
Mevalonaat kinase deficiëntie (mevalonacidurie) | MVK | 251170 |
Microvillus inclusion disease (MVID) of Diarrhea 2, with microvillus atrophy (DIAR2) | MYO5B | 251850 |
Muckle-Wells syndroom | NLRP3 | 191900 |
Muckle-Wells syndroom (MWS) | NLRP3 | 191900 |
Multipele endocriene neoplasie | CDKN1B | 600778 |
Multipele endocriene neoplasie | AIP | 605555 |
Multipele Endocriene Neoplasie type 1A | CDKN1A | 116899 |
Multipele Endocriene Neoplasie type 2B | CDKN2B | 600431 |
Multipele Endocriene Neoplasie type 2C | CDKN2C | 603369 |
Multiple endocrine neoplasie 1 | MEN1 | 131100 |
Multiple endocrine neoplasie 2A | RET | 171400 |
Multiple endocrine neoplasie 2B | RET | 162300 |
Myotone dystrofie type 1 | DMPK | 605377 |
Myotone dystrofie type 2 | CNBP | 602668 |
Nakajo Syndrome | PSMB8 | 256040 |
Nefrotisch syndroom met diffuse mesangiale sclerose (IDMS) | WT1 | 256370 |
Nefrotisch syndroom type 3, NPHS3 | PLCE1 | 610725 |
Nefrotisch syndroom, congenitaal | NPHS1 | 256300 |
Nefrotisch syndroom, focaal gesegmenteerde glomerulosclerose (FSGS1) | ACTN4 | 603278 |
Nefrotisch syndroom, steroïde resistent | NPHS2 | 600995 |
Nemaline myopathie 6 (NEM6) | KBTBD13 | 609273 |
Nemaline myopathie type 1 | TPM3 | 609284 |
Nemaline myopathie type 4 | TPM2 | 609285 |
Nemaline Myopathie type 5 (NEM5) | TNNT1 | 605355 |
Nemaline myopathy type 3 | ACTA1 | 161800 |
Nemaline myopathy type 7 | CFL2 | 610687 |
Nephronophthisis | NPHP1 | 256100 |
Nephronophtisis-3 | NPHP3 | 608002 |
Niercelcarcinoom, Papillair | MET | 164860 |
Obesitas | MC4R | 601665 |
Obesity, severe, dü to leptin deficiency, included | LEP | 164160 |
Oculofaciocardiodental syndroom (OFCD), Syndromaal Microphthalmia 2 (MCOPS2), BCOR | BCOR | 300166 |
PAPA syndroom, Pyogene Steriele Arthritis, Pyoderma Gangrenosum en Acne | PSTPIP1 | 604416 |
Persisterende Mulleriaanse buis syndroom, type 1 | AMH | 261550 |
Phaeochromocytomen, erfelijke | SDHC | 171300 |
Phaeochromocytomen, erfelijke | SDHD | 171300 |
Phaeochromocytomen, erfelijke | SDHB | 171300 |
Pierson syndroom | LAMB2 | 609049 |
Pitt Hopkins-like Syndroom 2 | NRXN1 | 600565 |
Polyposis coli, familiaire adenomateuze (FAP) | SMAD4 | 174900 |
Polyposis coli, juveniele | SMAD4 | 174900 |
Progressieve Myoclonische Epilepsie type 1B | PRICKLE1 | 612437 |
Progressieve Myoclonische Epilepsie type 6 | GOSR2 | 614018 |
Proopiomelanocortin deficiency | POMC | 609734 |
Proopiomelanocortin; POMC | POMC | 176830 |
Proprotein convertase 1/3 deficiency obesity and endocrinopathy dü to impaired processing of prohormones | PCSK1 | 600955 |
Proprotein convertase, subtilisin/kexin-type, 1; PSCK1 | PCSK1 | 162150 |
Pseudohypoparathyreoidie type IA (PHP-IA) | GNAS | 103580 |
Psoriasis, generalized pustular | IL36RN | 614204 |
Pyridoxine afhankelijke epilepsie (PDE) | PNPO | 610090 |
Pyruvaatkinase deficiëntie | PKLR | 266200 |
Renaal coloboom syndroom | PAX2 | 120330 |
Rendu Osler Weber (HHT1) | ENG | 187300 |
Rendu Osler Weber (HHT2) | ALK1 | 600376 |
Rett syndroom | MECP2 | 312750 |
Rett syndroom, congenitale variant | FOXG1 | 613454 |
RETT syndroom, early-onset met epilepsie en spasmen | CDKL5 | 300672 |
Rolandische epilepsie, mentale retardatie, X-gebonden, met spraak dyspraxie (RESDX) | SRPX2 | 300643 |
SCA23 | PDYN | 610245 |
Schizencephalie / congenital bilateral perisylvian syndroom | EMX2 | 269160 |
SCID, X-gebonden | IL2RG | 308380 |
Serine Biosynthese Defect | PSAT1 | 610992 |
Serine Biosynthese Defect | PSPH | 614023 |
Severe combined immunodeficiency (SCID). RAG1 | RAG1 | 601457 |
Severe combined immunodeficiency (SCID). RAG2 | RAG2 | 601457 |
Severe permanent tooth agenesis (oligodontia) | AXIN2 | 604025 |
Spinale spieratrofie (SMA) | SMN1 | 253300 |
Spinocerebellaire ataxie type 1 (SCA1) | ATXN1 | 164400 |
Spinocerebellaire ataxie type 12 (SCA12) | PPP2R2B | 604326 |
Spinocerebellaire ataxie type 13 (SCA13) | KCNC3 | 605259 |
Spinocerebellaire ataxie type 14 (SCA14) | PRKCG | 605361 |
Spinocerebellaire ataxie type 17 (SCA17) | TBP | 607136 |
Spinocerebellaire ataxie type 2 (SCA2) | ATXN2 | 183090 |
Spinocerebellaire ataxie type 3 (SCA3) (Machado-Joseph) | ATXN3 | 109150 |
Spinocerebellaire ataxie type 6 (SCA6) | CACNA1A | 183086 |
Spinocerebellaire ataxie type 7 (SCA7) | ATXN7 | 164500 |
Subtelomere deleties bij mentale retardatie | n.v.t. | n.v.t. |
Susceptibilty to Hirschsprung Disease 3 (HSCR3) | GDNF | 613711 |
Tetralogie van Fallot | NKX2.5 | 187500 |
Thrombocythemia, essential | THPO | 187950 |
Thyroid-stimulerend hormoon resistentie | GNAS | 603372 |
TRAPS (familial hibernian fever) | TNFRSF1A | 142680 |
Tyrosinemie type 1 | FAH | 276700 |
Uniparentale disomie (UPD) | n.v.t. | n.v.t. |
Velocardiofaciaal Syndroom (VCF)/ DiGeorge Syndroom | TBX1 | 192430 |
Von Hippel-Lindau, ziekte van | VHL | 193300 |
Wilson, ziekte van | ATP7B | 277900 |
Wiskott Aldrich syndroom | WAS | 300392 |
X-gebonden lymfoproliferatief syndroom (XLP) | SH2D1A | 300490 |
X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy XMPMA | FHL1 | 300696 |
ZAP70-deficiënte SCID | ZAP7 | 176947 |