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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
EDN3717AD und/oder AR
EDNRB1329AD und/oder AR und/oder Sus
KIFBP1866AR
L1CAM3774XLR und/oder Dig
PHOX2B945AD
RET3345AD und/oder Dig und/oder Sus
SOX101401AD
TTC81518AR
ZEB23645AD
BBS11782AR und/oder Dig
BBS102172AR
BBS122133AR
BBS22166AR und/oder Dig
BBS41560AR
BBS72148AR und/oder Dig
CELSR39974AD
DENND34626AD
DHCR71428AR
ECE12313AD
GDNF636AD
GFRA11398Sus
MKKS1713AR und/oder Dig
MKS11680AR
NCLN1707AD
NKX2-11206AD
NRG11938Ass
NRG32091Sus
NUP985507
  • Keine OMIM-Gs verknüpft
AD
RMRP300AR
SEMA3C2273AD
SEMA3D2334AD
TBATA2160AD
TCF42016AD und/oder Mult
VCL3405AD

Infos zur Erkrankung

Klinischer Kommentar
  1. 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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