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)
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
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
EDN3 | 717 | NM_207034.3 | AD, AR, Sus | |
EDNRB | 1329 | NM_000115.5 | AD, AR, Sus | |
KIFBP | 1866 | NM_015634.4 | AR | |
L1CAM | 3774 | NM_000425.5 | XLR | |
PHOX2B | 945 | NM_003924.4 | AD | |
RET | 3345 | NM_020975.6 | AD | |
SOX10 | 1401 | NM_006941.4 | AD | |
ZEB2 | 3645 | NM_014795.4 | AD | |
CELSR3 | 9974 | NM_001407.3 | AD | |
DENND3 | 4626 | NM_014957.5 | AD | |
DHCR7 | 1428 | NM_001360.3 | AR | |
ECE1 | 2313 | NM_001397.3 | AD | |
GDNF | 636 | NM_000514.4 | AD | |
GFRA1 | 1398 | NM_005264.8 | Sus | |
NCLN | 1707 | NM_020170.4 | AD, Sus | |
NKX2-1 | 1206 | NM_001079668.3 | AD | |
NRG1 | 1938 | NM_013956.5 | AD, Sus | |
NRG3 | 2091 | NM_001010848.4 | AD | |
NUP98 | 5507 | NM_005387.7 | AD, Sus | |
SEMA3C | 2273 | NM_006379.5 | AD, Sus | |
SEMA3D | 2334 | NM_152754.3 | AD, Sus | |
TBATA | 2160 | NM_152710.4 | AD, Sus | |
VCL | 3405 | NM_014000.3 | AD |
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