ErkrankungMorbus Hirschsprung, syndromisch; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Morbus Hirschsprung, syndromisch, mit 1 Leitlinien-kuratierten, 8 weitern "core-candidate" und insgesamt 34 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP8463
Anzahl Gene
34
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,6 kb (Core-/Basis-Gene)
79,3 kb (Erweitertes Panel)
79,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
EDN3 | 717 | AD und/oder AR | |
EDNRB | 1329 | AD und/oder AR und/oder Sus | |
KIFBP | 1866 | AR | |
L1CAM | 3774 | XLR und/oder Dig | |
PHOX2B | 945 | AD | |
RET | 3345 | AD und/oder Dig und/oder Sus | |
SOX10 | 1401 | AD | |
TTC8 | 1518 | AR | |
ZEB2 | 3645 | AD | |
BBS1 | 1782 | AR und/oder Dig | |
BBS10 | 2172 | AR | |
BBS12 | 2133 | AR | |
BBS2 | 2166 | AR und/oder Dig | |
BBS4 | 1560 | AR | |
BBS7 | 2148 | AR und/oder Dig | |
CELSR3 | 9974 | AD | |
DENND3 | 4626 | AD | |
DHCR7 | 1428 | AR | |
ECE1 | 2313 | AD | |
GDNF | 636 | AD | |
GFRA1 | 1398 | Sus | |
MKKS | 1713 | AR und/oder Dig | |
MKS1 | 1680 | AR | |
NCLN | 1707 | AD | |
NKX2-1 | 1206 | AD | |
NRG1 | 1938 | Ass | |
NRG3 | 2091 | Sus | |
NUP98 | 5507 |
| AD |
RMRP | 300 | AR | |
SEMA3C | 2273 | AD | |
SEMA3D | 2334 | AD | |
TBATA | 2160 | AD | |
TCF4 | 2016 | AD und/oder Mult | |
VCL | 3405 | AD |
Infos zur Erkrankung
Klinischer Kommentar
- Hirschsprung IN Bardet-Biedl-Syndrom; Knorpel-Haar-Hypoplasie-anauxtische Dysplasie-Spektrum-Störungen; Kongenitales zentrales Hypoventilationssyndrom; Familiäre Dysautonomie (Riley-Day-Syndrom); Fryns-Syndrom; Goldberg-Shprintzen-Syndrom; Intestinale neuronale Dysplasie; L1-Syndrom; MEN 2A/FMTC; MEN 2B; Mowat-Wilson-Syndrom; Neurofibromatose 1; Pitt-Hopkins-Syndrom; Smith-Lemli-Opitz-Syndrom; Smith-Lemli-Opitz-Syndrom
Synonyme
- Alias: Aganglionic megacolon + other symptoms
- Alias: Agangliose + other symptoms
- Alias: Congenital intestinal aganglionosis + other symptoms
- Allelic: Anauxetic dysplasia 1 (RMRP)
- Allelic: CRASH syndrome (L1CAM)
- Allelic: Chorea, hereditary benign (NKX2-1)
- Allelic: Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
- Allelic: Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
- Allelic: Corpus callosum, partial agenesis of (L1CAM)
- Allelic: Hypertension, essential, susceptibility to (ECE1)
- Allelic: MASA syndrome (L1CAM)
- Allelic: McKusick-Kaufman syndrome (MKKS)
- Allelic: Medullary thyroid carcinoma (RET)
- Allelic: Metaphyseal dysplasia without hypotrichosis (RMRP)
- Allelic: Multiple endocrine neoplasia IIA (RET)
- Allelic: Multiple endocrine neoplasia IIB (RET)
- Allelic: Neuroblastoma, susceptibility to, 2 (PHOX2B)
- Allelic: Pheochromocytoma (RET)
- Allelic: Pheochromocytoma, modifier of (GDNF)
- Allelic: Retinitis pigmentosa 51 (TTC8)
- Allelic: Schizophrenia, susceptibility to (NRG1)
- Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
- ABCD syndrome (EDNRB)
- Acrocapitofemoral dysplasia (IHH)
- Bardet-Biedl syndrome 1 (BBS1, -4, -7, -10, -12)
- Bardet-Biedl syndrome 13 (MKS1)
- Bardet-Biedl syndrome 6 (MKKS)
- Bardet-Biedl syndrome 8 (TTC8)
- Brachydactyly, type A1 (IHH)
- Cartilage-hair hypoplasia (RMRP)
- Central hypoventilation syndrome, congenital, with/-out Hirschsprung disease (PHOX2B)
- Culler-Jones syndrome (GLI2)
- Epidermolysis bullosa, junctional 5A, intermediate (ITGB4)
- Epidermolysis bullosa, junctional 5B, with pyloric atresia (ITGB4)
- Episodic ataxia type 8 [panelapp?] (UBR4)
- Glycogen storage disease XIII (ENO3)
- Goldberg-Shprintzen megacolon syndrome (KIFBP)
- Greig cephalopolysyndactyly syndrome (GLI3)
- Hirschsprung disease [panelapp] (CELSR3)
- Hirschsprung disease, cardiac defects + autonomic dysfunction (ECE1)
- Hirschsprung disease, protection against (RET)
- Hirschsprung disease, short-segment aganglionosis (NKX2-1)
- Hirschsprung disease, susceptibility to [panelapp] (DENND3)
- Hirschsprung disease, susceptibility to [panelapp] (GFRA1)
- Hirschsprung disease, susceptibility to [panelapp] (NCLN)
- Hirschsprung disease, susceptibility to [panelapp] (NRG1)
- Hirschsprung disease, susceptibility to [panelapp] (NRG3)
- Hirschsprung disease, susceptibility to [panelapp] (NUP98)
- Hirschsprung disease, susceptibility to [panelapp] (SEMA3C)
- Hirschsprung disease, susceptibility to [panelapp] (SEMA3D)
- Hirschsprung disease, susceptibility to [panelapp] (TBATA)
- Hirschsprung disease, susceptibility to [panelapp] (VCL)
- Hirschsprung disease, susceptibility to, 1 (RET)
- Hirschsprung disease, susceptibility to, 2 (EDNRB)
- Hirschsprung disease, susceptibility to, 3 (GDNF)
- Hirschsprung disease, susceptibility to, 4 (EDN3)
- Hirschsprung disease,HSCR [panelapp] (BACE2)
- Holoprosencephaly 9 (GLI2)
- Hydrocephalus due to aqueductal stenosis (L1CAM)
- Hydrocephalus with Hirschsprung disease (L1CAM)
- Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (L1CAM)
- Joubert syndrome 28 (MKS1)
- Meckel syndrome 1 (MKS1)
- Mowat-Wilson syndrome (ZEB2)
- Neuroblastoma with Hirschsprung disease (PHOX2B)
- PCWH syndrome (SOX10)
- Pallister-Hall syndrome (GLI3)
- Pitt-Hopkins syndrome (TCF4)
- Polydactyly, postaxial, type A8 (GLI1)
- Polydactyly, postaxial, types A1 + B (GLI3)
- Polydactyly, preaxial I (GLI1)
- Polydactyly, preaxial, type IV (GLI3)
- Short-segment Hirschsprung disease [panelapp] (VCL)
- Smith-Lemli-Opitz syndrome (DHCR7)
- Susceptibility to Hirschsprung disease [panelapp] (NRTN)
- Susceptibility to Hirschsprung disease [panelapp] (PSPN)
- Visceral neuropathy, familial, 2, AR (ERBB2)
- Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
- Waardenburg syndrome, type 4A (EDNRB)
- Waardenburg syndrome, type 4B (EDN3)
- Waardenburg syndrome, type 4C (SOX10)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Sus
- AD und/oder Dig und/oder Sus
- AD und/oder Mult
- AR
- AR und/oder Dig
- Ass
- Sus
- XLR und/oder Dig
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q43.1
Bioinformatik und klinische Interpretation
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