|
Erkrankung |
Gen |
OMIM |
|
|
Achondroplasie |
FGFR3 |
100800 |
|
Adrenogenitales Syndrom |
CYP21A2 |
201910 |
|
Akrozephalosyndaktylie Syndrome |
FGFR1, FGFR2 |
123150 |
|
Alagille Syndrom |
JAG1 |
118450 |
|
Angelman Syndrom |
SNRPN, UBE3A |
105830 |
|
Apert Syndrom |
FGFR2 |
101200 |
|
ARX-assoziierte Erkrankungen |
ARX |
300382 |
|
Beare-Stevenson Syndrom |
FGFR2 |
123790 |
|
CHARGE-Syndrom |
CHD7, SEMA3E |
214800 |
|
Coffin-Lowry Syndrom |
RSK2 |
303600 |
|
Cohen Syndrom |
COH1 |
216550 |
|
Cornelia de Lange Syndrom Typ I |
NIPBL |
122470 |
|
Cornelia de Lange Syndrom Typ II |
SMC1A (SMC1L1) |
300590 |
|
Cornelia de Lange Syndrom Typ III |
SMC3 |
610759 |
|
Costello Syndrom |
HRAS |
218040 |
|
Cri du Chat Syndrom |
|
123450 |
|
Crouzon Syndrom |
FGFR2 |
123500 |
|
Diabetes-Deafness Syndrom |
MTTL1 |
520000 |
|
Fra(X) Syndrom |
FMR1 |
309550 |
|
Hutchinson-Gilford Progerie Syndrom |
LMNA |
176670 |
|
Holoprosenzephalie |
SHH, ZIC2, SIX3, TGIF, GLI2 |
236100 |
|
Hydrocephalus, X-chromosomal |
L1CAM |
307000 |
|
Hypochondroplasie |
FGFR3 |
146000 |
|
Jackson-Weiss Syndrom |
FGFR2 |
123150 |
|
Kallmann Syndrom Typ 1 |
KAL1 |
308700 |
|
Kardiofaziokutanes Syndrom |
BRAF, MAP2K1, MAP2K2, KRAS |
115150 |
|
Kraniosynostose Syndrome |
FGFR1, FGFR2, FGFR3, MSX2 |
602849 |
|
L1 Syndrom |
L1CAM |
307000 |
|
Langer-Giedion Syndrom |
EXT1, TRPS1 |
150230 |
|
Langer Syndrom |
SHOX |
249700 |
|
LEOPARD Syndrom 1 |
PTPN11 |
151100 |
|
LEOPARD Syndrom 2 |
RAF1 |
611554 |
|
LEOPARD Syndrom 3 |
BRAF |
613707 |
|
Leri-Weill Dyschondrosteose |
SHOX |
127300 |
|
Mandibulo-akrale Dysplasie (MAD) |
LMNA |
248370 |
|
MASA Syndrom |
L1CAM |
303350 |
|
Mikrodeletionssyndrom 1p36 |
- |
607872 |
|
Mikrodeletionssyndrom 22q11.2 |
- |
192430 |
|
Mikrodeletionssyndrom 22q13.3 |
- |
606232 |
|
Morbus Hirschsprung |
RET |
142623 |
|
Mowat Wilsom Syndrom |
ZEB2 |
235730 |
|
Muenke Syndrom |
FGFR3 |
602849 |
|
Noonan Syndrom 1 |
PTPN11 |
163950 |
|
Noonan Syndrom 3 |
KRAS |
609942 |
|
Noonan Syndrom 4 |
SOS1 |
610733 |
|
Noonan Syndrom 5 |
RAF1 |
611553 |
|
Noonan Syndrom 6 |
NRAS |
613224 |
|
Noonan Syndrom 7 |
BRAF |
613706 |
|
Noonanähnliches Syndrom |
SHOC2 |
607721 |
|
Pfeiffer Syndrom |
FGFR1 |
101600 |
|
Pitt-Hopkins Syndrom |
TCF4 |
610954 |
|
Prader-Willi Syndrom |
SNRPN |
176270 |
|
Rett Syndrom |
MECP2, CDKL5, FOXG1 |
312750 |
|
Rubinstein-Taybi Syndrom |
CREBBP |
180849 |
|
Saethre-Chotzen Syndrom |
TWIST1 |
101400 |
|
Sensorineurale Schwerhörigkeit Typ 1 |
CX26, CX30 |
220290 |
|
Smith-Lemli-Opitz Syndrom |
DHCR7 |
270400 |
|
Smith-Magenis Syndrom |
- |
182290 |
|
Sotos Syndrom |
NSD1 |
117550 |
|
Subtelomerscreening |
- |
- |
|
Thanatophore Dysplasie |
FGFR3 |
187600 |
|
Uniparentale Disomie |
- |
- |
|
Waardenburg Syndrom Typ I |
PAX3 |
193500 |
|
Waardenburg Syndrom Typ II |
MITF |
193510 |
|
Waardenburg Syndrom Typ III |
PAX3 |
148820 |
|
Weaver Syndrom |
NSD1 |
277590 |
|
Williams-Beuren Syndrom |
ELN |
194050 |
|
Wolf-Hirschhorn Syndrom |
- |
194190 |
|
X-chromosomale Ichthyosis |
STS |
308100 |
|
Xq28 Duplikationssyndrom |
MECP2 |
312750 |
