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

MP8462

Anzahl Gene

23 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

17,1 kb (Core-/Core-canditate-Gene)
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	131242	NM_207034.3	AD, AR, Sus
EDNRB	1329	131244	NM_000115.5	AD, AR, Sus
KIFBP	1866	609367	NM_015634.4	AR
L1CAM	3774	308840	NM_000425.5	XLR
PHOX2B	945	603851	NM_003924.4	AD
RET	3345	164761	NM_020975.6	AD
SOX10	1401	602229	NM_006941.4	AD
ZEB2	3645	605802	NM_014795.4	AD
CELSR3	9974	604264	NM_001407.3	AD
DENND3	4626	617503	NM_014957.5	AD
DHCR7	1428	602858	NM_001360.3	AR
ECE1	2313	600423	NM_001397.3	AD
GDNF	636	600837	NM_000514.4	AD
GFRA1	1398	601496	NM_005264.8	Sus
NCLN	1707	609156	NM_020170.4	AD, Sus
NKX2-1	1206	600635	NM_001079668.3	AD
NRG1	1938	142445	NM_013956.5	AD, Sus
NRG3	2091	605533	NM_001010848.4	AD
NUP98	5507	601021	NM_005387.7	AD, Sus
SEMA3C	2273	602645	NM_006379.5	AD, Sus
SEMA3D	2334	609907	NM_152754.3	AD, Sus
TBATA	2160	612640	NM_152710.4	AD, Sus
VCL	3405	193065	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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q43.1

Bioinformatik und klinische Interpretation

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