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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Digestive System Abnormalities (D004065)
Parent Node: Megacolon (D008531)
..Starting node ..Hirschsprung Disease (D006627)
Child Nodes:
........Aganglionosis, total intestinal (C538058)
........Al Gazali Hirschsprung syndrome (C535615)
........Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
........Cartilage hair hypoplasia like syndrome (C535915)
........Cartilage-hair hypoplasia (C535916)
........Goldberg-Shprintzen megacolon syndrome (C537279)
........Hirschsprung disease 1 (C538540)
........Hirschsprung disease ganglioneuroblastoma (C538119)
........Hirschsprung disease polydactyly heart disease (C538120)
........Hirschsprung disease type 3 (C538121)
........Hirschsprung disease type d brachydactyly (C538319)
........Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
........Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
........Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
........Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
........Laurence Prosser Rocker syndrome (C537882)
........Mowat-Wilson syndrome (C536990)
........Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
........Santos Mateus Leal syndrome (C537235)
........WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
........Waardenburg Syndrome, Type 4b (C567680)
........Waardenburg Syndrome, Type 4c (C567679)
Sister Nodes:
..Hirschsprung Disease (D006627) 22
..Megacolon, Toxic (D008532)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5195

Name:

Hirschsprung Disease

Definition:

Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.

Alternative IDs:

ParentIDs:

MESH:D004065|MESH:D008531

TreeNumbers:

C06.198.439 |C06.405.469.158.701.439 |C16.131.314.439

Synonyms:

Slim Mappings:

Congenital abnormality|Digestive system disease

Reference:

MedGen: D006627
MeSH: D006627
OMIM: 142623;

Genes: EDNRB; GDNF; RET;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003270	Abdominal distention
3	HP:0004362	Abnormality of enteric ganglion morphology
4	HP:0002251	Aganglionic megacolon
5	HP:0002019	Constipation
6	HP:0004387	Enterocolitis
7	HP:0002013	Vomiting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001301131.1(POLR2F):c.294-27388_*10734del	-1	-	Pathogenic	-1	RCV000144842;	N	MedGen:C2931876,OMIM:142623	22	38409687	38447833	-	-		-	C2931876 142623 Hirschsprung disease 1
NM_001301130.1(POLR2F):c.453-24860G>A	-1	-	Likely pathogenic	606231342	RCV000144844;	N	MedGen:C2931876,OMIM:142623	22	38412215	38412215	-	-	NC_000022.10:g.38412215G>A	-	C2931876 142623 Hirschsprung disease 1
NM_001301130.1(POLR2F):c.453-24294G>C	-1	-	Likely pathogenic	533778281	RCV000144843;	N	MedGen:C2931876,OMIM:142623	22	38412781	38412781	-	-	NC_000022.10:g.38412781G>C	-	C2931876 142623 Hirschsprung disease 1
NM_001145031.2(PLAU):c.121G>A (p.Gly41Arg)	-1	-	Uncertain significance	55744193	RCV000201293;	N	MedGen:C2931876,OMIM:142623	10	75672059	75672059	NM_001145031.2:c.121G>A	NP_001138503.1:p.Gly41Arg	NC_000010.10:g.75672059G>A	-	C2931876 142623 Hirschsprung disease 1
NM_001306212.1(THBS4):c.1612C>T (p.Gln538Ter)	-1	-	Uncertain significance	745310807	RCV000201285;	N	MedGen:C2931876,OMIM:142623	5	79369143	79369143	NM_001306212.1:c.1612C>T	NP_001293141.1:p.Gln538Ter	NC_000005.9:g.79369143C>T	-	C2931876 142623 Hirschsprung disease 1
NM_001620.2(AHNAK):c.7562C>G (p.Pro2521Arg)	79026	AHNAK	Uncertain significance	143391519	RCV000201288;	N	MedGen:C2931876,OMIM:142623	11	62294327	62294327	NM_001620.2:c.7562C>G	NP_001611.1:p.Pro2521Arg	NC_000011.9:g.62294327G>C	-	C2931876 142623 Hirschsprung disease 1
NM_001620.2(AHNAK):c.6539A>G (p.Lys2180Arg)	79026	AHNAK	Uncertain significance	200438956	RCV000201295;	N	MedGen:C2931876,OMIM:142623	11	62295350	62295350	NM_001620.2:c.6539A>G	NP_001611.1:p.Lys2180Arg	NC_000011.9:g.62295350T>C	-	C2931876 142623 Hirschsprung disease 1
NM_014361.3(CNTN5):c.3016G>A (p.Val1006Ile)	53942	CNTN5	Uncertain significance	200028794	RCV000201286;	N	MedGen:C2931876,OMIM:142623	11	100211923	100211923	NM_014361.3:c.3016G>A	NP_055176.1:p.Val1006Ile	NC_000011.9:g.100211923G>A	-	C2931876 142623 Hirschsprung disease 1
NM_004380.2(CREBBP):c.7210G>A (p.Glu2404Lys)	1387	CREBBP	Uncertain significance	863223334	RCV000201310;	N	MedGen:C2931876,OMIM:142623	16	3777838	3777838	NM_004380.2:c.7210G>A	NP_004371.2:p.Glu2404Lys	NC_000016.9:g.3777838C>T	-	C2931876 142623 Hirschsprung disease 1
NM_000110.3(DPYD):c.1905+1G>A	1806	DPYD	drug response	3918290	RCV000000460; RCV000201291; RCV000086468; RCV000030868; RCV000211317; RCV000211404; RCV000211354; RCV000211222;	Y	MedGen:C2720286,OMIM:274270; MedGen:C2931876,OMIM:142623; MedGen:CN077983; MedGen:CN221809; MedGen:CN236468; MedGen:CN236492; MedGen:CN236593; MedGen:CN236622	1	97915614	97915614	NM_000110.3:c.1905+1G>A		NC_000001.10:g.97915614C>T	OMIM Allelic Variant:612779.0001,PharmGKB Clinical Annotation:827843617,PharmGKB:827843617	CN236492 capecitabine response - Toxicity/ADR; C2720286 274270 Dihydropyrimidine dehydrogenase deficiency; CN077983 Fluorouracil response; CN236593 fluorouracil response - Toxicity/ADR; C2931876 142623 Hirschsprung disease 1; CN221809 not provided; C
NM_001008781.2(FAT3):c.6916G>A (p.Val2306Ile)	120114	FAT3	Uncertain significance	863223333	RCV000201304;	N	MedGen:C2931876,OMIM:142623	11	92533095	92533095	NM_001008781.2:c.6916G>A	NP_001008781.2:p.Val2306Ile	NC_000011.9:g.92533095G>A	-	C2931876 142623 Hirschsprung disease 1
NM_000138.4(FBN1):c.1547G>A (p.Arg516Gln)	2200	FBN1	Uncertain significance	775489067	RCV000201287;	N	MedGen:C2931876,OMIM:142623	15	48805787	48805787	NM_000138.4:c.1547G>A	NP_000129.3:p.Arg516Gln	NC_000015.9:g.48805787C>T	-	C2931876 142623 Hirschsprung disease 1
NM_005264.5(GFRA1):c.779T>C (p.Leu260Pro)	2674	GFRA1	Uncertain significance	863223332	RCV000201303;	N	MedGen:C2931876,OMIM:142623	10	117856267	117856267	NM_005264.5:c.779T>C	NP_005255.1:p.Leu260Pro	NC_000010.10:g.117856267A>G	-	C2931876 142623 Hirschsprung disease 1
	11213	IRAK3	Uncertain significance	-1	RCV000201309;	N	MedGen:C2931876,OMIM:142623	12	66641620	66641621	-	-		-	C2931876 142623 Hirschsprung disease 1
NM_002253.2(KDR):c.2066C>T (p.Thr689Met)	3791	KDR	Uncertain significance	34038364	RCV000201301; RCV000121297;	N	MedGen:C2931876,OMIM:142623; MedGen:CN169374	4	55968597	55968597	NM_002253.2:c.2066C>T	NP_002244.1:p.Thr689Met	NC_000004.11:g.55968597G>A	-	C2931876 142623 Hirschsprung disease 1; CN169374 not specified
NM_001102654.1(NTF3):c.265G>A (p.Gly89Arg)	4908	NTF3	Uncertain significance	540320780	RCV000201299;	N	MedGen:C2931876,OMIM:142623	12	5603606	5603606	NM_001102654.1:c.265G>A	NP_001096124.1:p.Gly89Arg	NC_000012.11:g.5603606G>A	-	C2931876 142623 Hirschsprung disease 1
NM_000264.3(PTCH1):c.1306G>A (p.Asp436Asn)	5727	PTCH1	Benign;Likely benign;Uncertain significance	142274954	RCV000122998; RCV000201284; RCV000121906; RCV000207385;	N	MedGen:C0004779,OMIM:109400,ORPHA:377,SNOMED CT:69408002; MedGen:C2931876,OMIM:142623; MedGen:CN169374; MedGen:CN235161	9	98240378	98240378	NM_000264.3:c.1306G>A	NP_000255.2:p.Asp436Asn	NC_000009.11:g.98240378C>T	-	CN235161 Anophthalmia - microphthalmia; C0004779 109400 Gorlin syndrome; C2931876 142623 Hirschsprung disease 1; CN169374 not specified
NM_020630.4(RET):c.73+9277T>C	5979	RET	risk factor	2435357	RCV000014980;	N	MedGen:C2931876,OMIM:142623	10	43582056	43582056	NM_020630.4:c.73+9277T>C		NC_000010.10:g.43582056T>C	OMIM Allelic Variant:164761.0050	C2931876 142623 Hirschsprung disease 1
NM_020975.4(RET):c.95C>T (p.Ser32Leu)	5979	RET	risk factor	76764689	RCV000014948;	N	MedGen:C2931876,OMIM:142623	10	43595928	43595928	NM_020975.4:c.95C>T	NP_066124.1:p.Ser32Leu	NC_000010.10:g.43595928C>T	OMIM Allelic Variant:164761.0018	C2931876 142623 Hirschsprung disease 1
NM_020975.4(RET):c.135G>A (p.Ala45=)	5979	RET	Benign;risk factor	1800858	RCV000014967; RCV000205827; RCV000127776; RCV000216697;	N	MedGen:C2931876,OMIM:142623; MedGen:CN073359, Orphanet:ORPHA653,SNOMED CT:61808009; MedGen:CN169374; MedGen:CN221809	10	43595968	43595968	NM_020975.4:c.135G>A	NP_066124.1:p.Ala45=	NC_000010.10:g.43595968Ax3d,NC_000010.10:g.43595968A>G	OMIM Allelic Variant:164761.0038	C2931876 142623 Hirschsprung disease 1; CN073359 Multiple endocrine neoplasia, type 2; CN221809 not provided; CN169374 not specified
NM_020975.4(RET):c.191C>T (p.Pro64Leu)	5979	RET	risk factor	77596424	RCV000014949;	N	MedGen:C2931876,OMIM:142623	10	43596024	43596024	NM_020975.4:c.191C>T	NP_066124.1:p.Pro64Leu	NC_000010.10:g.43596024C>T	OMIM Allelic Variant:164761.0019	C2931876 142623 Hirschsprung disease 1
NM_020975.4(RET):c.406G>T (p.Glu136Ter)	5979	RET	risk factor	79014735	RCV000014931;	N	MedGen:C2931876,OMIM:142623	10	43597858	43597858	NM_020975.4:c.406G>T	NP_066124.1:p.Glu136Ter	NC_000010.10:g.43597858G>A,NC_000010.10:g.43597858G>T	OMIM Allelic Variant:164761.0020	C2931876 142623 Hirschsprung disease 1
NM_020975.4(RET):c.538C>T (p.Arg180Ter)	5979	RET	risk factor	76449634	RCV000014950;	N	MedGen:C2931876,OMIM:142623	10	43597990	43597990	NM_020975.4:c.538C>T	NP_066124.1:p.Arg180Ter	NC_000010.10:g.43597990C>T	OMIM Allelic Variant:164761.0021	C2931876 142623 Hirschsprung disease 1
NM_020975.4(RET):c.692G>A (p.Arg231His)	5979	RET	risk factor	79661516	RCV000014964;	N	MedGen:C2931876,OMIM:142623	10	43600466	43600466	NM_020975.4:c.692G>A	NP_066124.1:p.Arg231His	NC_000010.10:g.43600466G>A	OMIM Allelic Variant:164761.0035	C2931876 142623 Hirschsprung disease 1
NM_020975.4(RET):c.938G>A (p.Arg313Gln)	5979	RET	risk factor	77702891	RCV000014957;	N	MedGen:C2931876,OMIM:142623	10	43601894	43601894	NM_020975.4:c.938G>A	NP_066124.1:p.Arg313Gln	NC_000010.10:g.43601894G>A	OMIM Allelic Variant:164761.0028	C2931876 142623 Hirschsprung disease 1
NM_020975.4(RET):c.989G>A (p.Arg330Gln)	5979	RET	risk factor	80236571	RCV000014951;	N	MedGen:C2931876,OMIM:142623	10	43601945	43601945	NM_020975.4:c.989G>A	NP_066124.1:p.Arg330Gln	NC_000010.10:g.43601945G>A	OMIM Allelic Variant:164761.0022	C2931876 142623 Hirschsprung disease 1
NM_020975.4(RET):c.1179C>A (p.Phe393Leu)	5979	RET	risk factor	78098482	RCV000014952;	N	MedGen:C2931876,OMIM:142623	10	43604594	43604594	NM_020975.4:c.1179C>A	NP_066124.1:p.Phe393Leu	NC_000010.10:g.43604594C>A	OMIM Allelic Variant:164761.0023	C2931876 142623 Hirschsprung disease 1
NM_020630.4(RET):c.1880-2A>G	5979	RET	Likely pathogenic	193922699	RCV000030404;	N	MedGen:C2931876,OMIM:142623	10	43609926	43609926	NM_020630.4:c.1880-2A>G		NC_000010.10:g.43609926A>G	-	C2931876 142623 Hirschsprung disease 1
NM_020975.4(RET):c.1941C>T (p.Ile647=)	5979	RET	Likely benign;risk factor	75225191	RCV000014966; RCV000220871; RCV000204407;	N	MedGen:C2931876,OMIM:142623; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN073359, Orphanet:ORPHA653,SNOMED CT:61808009	10	43609989	43609989	NM_020975.4:c.1941C>T	NP_066124.1:p.Ile647=	NC_000010.10:g.43609989C>T	OMIM Allelic Variant:164761.0037	C2931876 142623 Hirschsprung disease 1; CN073359 Multiple endocrine neoplasia, type 2; C3280492 614327 Tumor predisposition syndrome
NM_020975.4(RET):c.2293T>C (p.Ser765Pro)	5979	RET	risk factor	75075748	RCV000014921;	N	MedGen:C2931876,OMIM:142623	10	43613829	43613829	NM_020975.4:c.2293T>C	NP_066124.1:p.Ser765Pro	NC_000010.10:g.43613829T>C	OMIM Allelic Variant:164761.0015	C2931876 142623 Hirschsprung disease 1
NM_020975.4(RET):c.2690G>A (p.Arg897Gln)	5979	RET	risk factor	76087194	RCV000014946;	N	MedGen:C2931876,OMIM:142623	10	43615611	43615611	NM_020975.4:c.2690G>A	NP_066124.1:p.Arg897Gln	NC_000010.10:g.43615611G>A	OMIM Allelic Variant:164761.0016	C2931876 142623 Hirschsprung disease 1
NM_020975.4(RET):c.2914A>G (p.Arg972Gly)	5979	RET	risk factor	76534745	RCV000014947;	N	MedGen:C2931876,OMIM:142623	10	43619231	43619231	NM_020975.4:c.2914A>G	NP_066124.1:p.Arg972Gly	NC_000010.10:g.43619231A>G	OMIM Allelic Variant:164761.0017	C2931876 142623 Hirschsprung disease 1
NM_020975.4(RET):c.2944C>T (p.Arg982Cys)	5979	RET	Benign;Likely benign;risk factor	17158558	RCV000014965; RCV000119132; RCV000034774; RCV000082055; RCV000162949; RCV000202663;	N	MedGen:C0027662,ORPHA:276161,SNOMED CT:46724008; MedGen:C0027672,SNOMED CT:699346009; MedGen:C2931876,OMIM:142623; MedGen:CN073359, Orphanet:ORPHA653,SNOMED CT:61808009; MedGen:CN169374; MedGen:CN221809	10	43620335	43620335	NM_020975.4:c.2944C>T	NP_066124.1:p.Arg982Cys	NC_000010.10:g.43620335C>T	HGMD:CM033451,OMIM Allelic Variant:164761.0036	C0027672 Hereditary cancer-predisposing syndrome; C2931876 142623 Hirschsprung disease 1; C0027662 Multiple endocrine neoplasia; CN073359 Multiple endocrine neoplasia, type 2; CN221809 not provided; CN169374 not specified
NM_152754.2(SEMA3D):c.592G>A (p.Glu198Lys)	223117	SEMA3D	Uncertain significance	549337695	RCV000201294;	N	MedGen:C2931876,OMIM:142623	7	84694866	84694866	NM_152754.2:c.592G>A	NP_689967.2:p.Glu198Lys	NC_000007.13:g.84694866C>T	-	C2931876 142623 Hirschsprung disease 1
NM_000548.4(TSC2):c.1318G>A (p.Gly440Ser)	7249	TSC2	Likely benign;Uncertain significance	45484298	RCV000201296; RCV000054863; RCV000034643; RCV000122204; RCV000163424;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C2931876,OMIM:142623; MedGen:CN169374; MedGen:CN221809	16	2112558	2112558	NM_000548.4:c.1318G>A	NP_000539.2:p.Gly440Ser		Tuberous sclerosis database (TSC2):TSC2_00167	C0027672 Hereditary cancer-predisposing syndrome; C2931876 142623 Hirschsprung disease 1; CN221809 not provided; CN169374 not specified; C0041341 Tuberous sclerosis syndrome
NM_014943.3(ZHX2):c.1682G>A (p.Arg561Gln)	22882	ZHX2	Uncertain significance	138450443	RCV000201300;	N	MedGen:C2931876,OMIM:142623	8	123965432	123965432	NM_014943.3:c.1682G>A	NP_055758.1:p.Arg561Gln	NC_000008.10:g.123965432G>A	-	C2931876 142623 Hirschsprung disease 1