Klinische FragestellungMorbus Hirschsprung, familiär; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Morbus Hirschsprung, familiär, mit 2 Leitlinien-kuratierten Genen und 6 weiteren "core candidate"-Genen bzw. zusammen genommen 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP8462
Anzahl Gene
23
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
17,1 kb (Core-/Core-canditate-Gene)
60,1 kb (Erweitertes Panel: inkl. additional genes)
60,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
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 |
Infos zur Erkrankung
Klinischer Kommentar
Angeborene Darmbewegungsstörung mit Anzeichen von Darmverschluss durch ein aganglionäres Segment unterschiedlichen Ausmasses im terminalen Teil des Dickdarms
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- Sus
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q43.1
Bioinformatik und klinische Interpretation
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