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IllnessMorbus Hirschsprung, familial; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Morbus Hirschsprung, familial, comprising 1 guideline-curated, 7 additional core candidate and altogether 24 curated genes according to the clinical signs

ID
MP8462
Number of genes
23 Accredited laboratory test
Examined sequence length
17,1 kb (Core-/Core-canditate-Genes)
60,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
EDN3717NM_207034.3AD, AR, Sus
EDNRB1329NM_000115.5AD, AR, Sus
KIFBP1866NM_015634.4AR
L1CAM3774NM_000425.5XLR
PHOX2B945NM_003924.4AD
RET3345NM_020975.6AD
SOX101401NM_006941.4AD
ZEB23645NM_014795.4AD
CELSR39974NM_001407.3AD
DENND34626NM_014957.5AD
DHCR71428NM_001360.3AR
ECE12313NM_001397.3AD
GDNF636NM_000514.4AD
GFRA11398NM_005264.8Sus
NCLN1707NM_020170.4AD, Sus
NKX2-11206NM_001079668.3AD
NRG11938NM_013956.5AD, Sus
NRG32091NM_001010848.4AD
NUP985507NM_005387.7AD, Sus
SEMA3C2273NM_006379.5AD, Sus
SEMA3D2334NM_152754.3AD, Sus
TBATA2160NM_152710.4AD, Sus
VCL3405NM_014000.3AD

Informations about the disease

Clinical Comment

Congenital intestinal motility disorder with signs of intestinal obstruction due to an aganglionic segment of variable extent in the terminal part of the colon

 

Synonyms
  • Alias: Aganglionic megacolon
  • Alias: Agangliose
  • Alias: Congenital intestinal aganglionosis
  • Allelic: ABCD syndrome (EDNRB)
  • Allelic: COMMAD syndrome (MITF)
  • Allelic: CRASH syndrome (L1CAM)
  • Allelic: Cardiomyopathy, dilated, 1W (VCL)
  • Allelic: Cardiomyopathy, hypertrophic, 15 (VCL)
  • Allelic: Central hypoventilation syndrome (GDNF)
  • Allelic: Central hypoventilation syndrome, congenital (EDN3)
  • Allelic: Central hypoventilation syndrome, congenital (RET)
  • Allelic: Central hypoventilation syndrome, congenital, with/-out Hirschsprung disease (PHOX2B)
  • Allelic: Chorea, hereditary benign (NKX2-1)
  • Allelic: Choreoathetosis, hypothyroidism, and neonatal respiratory distress (NKX2-1)
  • Allelic: Corpus callosum, partial agenesis of (L1CAM)
  • Allelic: Craniofacial-deafness-hand syndrome (PAX3)
  • Allelic: Hydrocephalus due to aqueductal stenosis (L1CAM)
  • Allelic: Hypertension, essential, susceptibility to (ECE1)
  • Allelic: MASA syndrome (L1CAM)
  • Allelic: Medullary thyroid carcinoma (RET)
  • Allelic: Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
  • 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: Rhabdomyosarcoma 2, alveolar (PAX3)
  • Allelic: Schizophrenia, susceptibility to (NRG1)
  • Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • Allelic: Tietz albinism-deafness syndrome (MITF)
  • Central hypoventilation syndrome, congenital, 2, autonomic dysfunction (MYO1H)
  • Goldberg-Shprintzen megacolon syndrome (KIFBP)
  • Hirschsprung disease [panelapp] (CELSR3)
  • Hirschsprung disease, cardiac defects, autonomic dysfunction (ECE1)
  • Hirschsprung disease, protection against (RET)
  • Hirschsprung disease, susceptibility to [panelapp] (DENND3)
  • Hirschsprung disease, susceptibility to [panelapp] (NCLN)
  • Hirschsprung disease, susceptibility to [panelapp] (NUP98)
  • Hirschsprung disease, susceptibility to [panelapp] (SEMA3C)
  • 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, susceptobility to [panelapp] (TBATA)
  • Hydrocephalus with Hirschsprung disease (L1CAM)
  • Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (L1CAM)
  • Mowat-Wilson syndrome [Hirschsprung disease - mental retardation syndrome] (ZEB2)
  • Neuroblastoma with Hirschsprung disease (PHOX2B)
  • PCWH syndrome [periph. demyel. neuropathy, centr. dysmyel., Waardenburg s., M. Hirschsprung] (SOX10)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Waardenburg syndrome, type 1 (PAX3)
  • Waardenburg syndrome, type 2A (MITF)
  • Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
  • Waardenburg syndrome, type 3 (PAX3)
  • Waardenburg syndrome, type 4A (EDNRB)
  • Waardenburg syndrome, type 4B (EDN3)
  • Waardenburg syndrome, type 4C (SOX10)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined