HSCR4
MCID: HRS029
MIFTS: 24

Hirschsprung Disease 4 (HSCR4)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hirschsprung Disease 4

MalaCards integrated aliases for Hirschsprung Disease 4:

Name: Hirschsprung Disease 4 57 72 29 6
Hirschsprung Disease, Susceptibility to, 4 57 13
Hscr4 57 72
Hirschsprung Disease, Type 4 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on 3 patients with little to no clinical details (last curated january 2011)


HPO:

31
hirschsprung disease 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 613712
OMIM Phenotypic Series 57 PS142623
MeSH 44 D006627
MedGen 41 C3150975

Summaries for Hirschsprung Disease 4

OMIM® : 57 The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see 142623. (613712) (Updated 20-May-2021)

MalaCards based summary : Hirschsprung Disease 4, also known as hirschsprung disease, susceptibility to, 4, is related to megacolon and hirschsprung disease 1. An important gene associated with Hirschsprung Disease 4 is EDN3 (Endothelin 3). Related phenotype is aganglionic megacolon.

UniProtKB/Swiss-Prot : 72 Hirschsprung disease 4: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.

Related Diseases for Hirschsprung Disease 4

Diseases in the Hirschsprung Disease 1 family:

Hirschsprung Disease 2 Hirschsprung Disease 5
Hirschsprung Disease 6 Hirschsprung Disease 7
Hirschsprung Disease 8 Hirschsprung Disease 9
Hirschsprung Disease 3 Hirschsprung Disease 4

Diseases related to Hirschsprung Disease 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 megacolon 9.6 HSCR5 EDN3
2 hirschsprung disease 1 9.5 HSCR5 EDN3

Symptoms & Phenotypes for Hirschsprung Disease 4

Human phenotypes related to Hirschsprung Disease 4:

31
# Description HPO Frequency HPO Source Accession
1 aganglionic megacolon 31 HP:0002251

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
hirschsprung disease
short aganglionic segment (sigmoidal, 1 patient)

Clinical features from OMIM®:

613712 (Updated 20-May-2021)

Drugs & Therapeutics for Hirschsprung Disease 4

Search Clinical Trials , NIH Clinical Center for Hirschsprung Disease 4

Genetic Tests for Hirschsprung Disease 4

Genetic tests related to Hirschsprung Disease 4:

# Genetic test Affiliating Genes
1 Hirschsprung Disease 4 29 EDN3

Anatomical Context for Hirschsprung Disease 4

Publications for Hirschsprung Disease 4

Articles related to Hirschsprung Disease 4:

# Title Authors PMID Year
1
A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease. 6 57
10231870 1999
2
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. 6 57
9359047 1997
3
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
4
New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. 57
20009762 2010
5
Hirschsprung disease, associated syndromes and genetics: a review. 57
17965226 2008
6
Congenital heart diseases and other major anomalies in patients with Down syndrome. 61
16501680 2006

Variations for Hirschsprung Disease 4

ClinVar genetic disease variations for Hirschsprung Disease 4:

6 (show top 50) (show all 67)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDN3 NM_207034.3(EDN3):c.262dup (p.Ala88fs) Duplication risk factor 16648 rs1568823467 GRCh37: 20:57876669-57876670
GRCh38: 20:59301614-59301615
2 EDN3 NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) SNV risk factor 16647 rs11570351 GRCh37: 20:57899467-57899467
GRCh38: 20:59324412-59324412
3 EDN3 NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) SNV Conflicting interpretations of pathogenicity 16646 rs11570255 GRCh37: 20:57875916-57875916
GRCh38: 20:59300861-59300861
4 EDN3 NM_207034.3(EDN3):c.*96G>A SNV Uncertain significance 339129 rs886056875 GRCh37: 20:57899610-57899610
GRCh38: 20:59324555-59324555
5 EDN3 NM_207034.3(EDN3):c.*904A>G SNV Uncertain significance 339152 rs886056887 GRCh37: 20:57900418-57900418
GRCh38: 20:59325363-59325363
6 EDN3 NM_207034.3(EDN3):c.*476G>A SNV Uncertain significance 895752 GRCh37: 20:57899990-57899990
GRCh38: 20:59324935-59324935
7 EDN3 NM_207034.3(EDN3):c.*1517C>A SNV Uncertain significance 895819 GRCh37: 20:57901031-57901031
GRCh38: 20:59325976-59325976
8 EDN3 NC_000020.11:g.59326005T>C SNV Uncertain significance 895820 GRCh37: 20:57901060-57901060
GRCh38: 20:59326005-59326005
9 EDN3 NM_207034.3(EDN3):c.*606A>C SNV Uncertain significance 896031 GRCh37: 20:57900120-57900120
GRCh38: 20:59325065-59325065
10 EDN3 NM_207034.3(EDN3):c.*708C>T SNV Uncertain significance 896032 GRCh37: 20:57900222-57900222
GRCh38: 20:59325167-59325167
11 EDN3 NM_207034.3(EDN3):c.*716C>G SNV Uncertain significance 896033 GRCh37: 20:57900230-57900230
GRCh38: 20:59325175-59325175
12 EDN3 NM_207034.3(EDN3):c.623T>C (p.Leu208Ser) SNV Uncertain significance 897565 GRCh37: 20:57899420-57899420
GRCh38: 20:59324365-59324365
13 EDN3 NM_207034.3(EDN3):c.651C>T (p.Pro217=) SNV Uncertain significance 897566 GRCh37: 20:57899448-57899448
GRCh38: 20:59324393-59324393
14 EDN3 NM_207034.3(EDN3):c.685C>T (p.Pro229Ser) SNV Uncertain significance 897567 GRCh37: 20:57899482-57899482
GRCh38: 20:59324427-59324427
15 EDN3 NM_207034.3(EDN3):c.*916G>A SNV Uncertain significance 897624 GRCh37: 20:57900430-57900430
GRCh38: 20:59325375-59325375
16 EDN3 NM_207034.3(EDN3):c.*143C>G SNV Uncertain significance 898723 GRCh37: 20:57899657-57899657
GRCh38: 20:59324602-59324602
17 EDN3 NM_207034.3(EDN3):c.*144C>A SNV Uncertain significance 898724 GRCh37: 20:57899658-57899658
GRCh38: 20:59324603-59324603
18 EDN3 NM_207034.3(EDN3):c.*963G>A SNV Uncertain significance 898784 GRCh37: 20:57900477-57900477
GRCh38: 20:59325422-59325422
19 EDN3 NM_207034.3(EDN3):c.*1123G>A SNV Uncertain significance 898785 GRCh37: 20:57900637-57900637
GRCh38: 20:59325582-59325582
20 EDN3 NM_207034.3(EDN3):c.*1176C>T SNV Uncertain significance 898786 GRCh37: 20:57900690-57900690
GRCh38: 20:59325635-59325635
21 EDN3 NM_207034.3(EDN3):c.*679A>G SNV Uncertain significance 339148 rs886056885 GRCh37: 20:57900193-57900193
GRCh38: 20:59325138-59325138
22 EDN3 NM_207034.3(EDN3):c.*145C>A SNV Uncertain significance 339137 rs886056881 GRCh37: 20:57899659-57899659
GRCh38: 20:59324604-59324604
23 EDN3 NM_207034.3(EDN3):c.*1147A>G SNV Uncertain significance 339158 rs3026571 GRCh37: 20:57900661-57900661
GRCh38: 20:59325606-59325606
24 EDN3 NM_207034.3(EDN3):c.257A>G (p.Glu86Gly) SNV Uncertain significance 339122 rs761348961 GRCh37: 20:57876669-57876669
GRCh38: 20:59301614-59301614
25 EDN3 NM_207034.3(EDN3):c.43T>G (p.Ser15Ala) SNV Uncertain significance 339121 rs374697035 GRCh37: 20:57875910-57875910
GRCh38: 20:59300855-59300855
26 EDN3 NM_207034.3(EDN3):c.-120C>T SNV Uncertain significance 339117 rs886056872 GRCh37: 20:57875748-57875748
GRCh38: 20:59300693-59300693
27 EDN3 NM_207034.3(EDN3):c.*586G>A SNV Uncertain significance 339146 rs886056884 GRCh37: 20:57900100-57900100
GRCh38: 20:59325045-59325045
28 EDN3 NM_207034.3(EDN3):c.689G>A (p.Arg230His) SNV Uncertain significance 339127 rs144250756 GRCh37: 20:57899486-57899486
GRCh38: 20:59324431-59324431
29 EDN3 NM_207034.3(EDN3):c.688C>T (p.Arg230Cys) SNV Uncertain significance 339126 rs372958987 GRCh37: 20:57899485-57899485
GRCh38: 20:59324430-59324430
30 EDN3 NM_207034.3(EDN3):c.*1271A>G SNV Uncertain significance 339160 rs886056889 GRCh37: 20:57900785-57900785
GRCh38: 20:59325730-59325730
31 EDN3 NM_207034.3(EDN3):c.*1398C>T SNV Uncertain significance 339162 rs886056890 GRCh37: 20:57900912-57900912
GRCh38: 20:59325857-59325857
32 EDN3 NM_207034.3(EDN3):c.*756C>T SNV Uncertain significance 339149 rs763311172 GRCh37: 20:57900270-57900270
GRCh38: 20:59325215-59325215
33 EDN3 NM_207034.3(EDN3):c.*571A>G SNV Uncertain significance 339144 rs886056882 GRCh37: 20:57900085-57900085
GRCh38: 20:59325030-59325030
34 EDN3 NM_207034.3(EDN3):c.*585C>T SNV Uncertain significance 339145 rs886056883 GRCh37: 20:57900099-57900099
GRCh38: 20:59325044-59325044
35 EDN3 NM_207034.3(EDN3):c.*147C>G SNV Uncertain significance 339139 rs576673862 GRCh37: 20:57899661-57899661
GRCh38: 20:59324606-59324606
36 EDN3 NM_207034.3(EDN3):c.*144C>T SNV Uncertain significance 339136 rs886056880 GRCh37: 20:57899658-57899658
GRCh38: 20:59324603-59324603
37 EDN3 NM_207034.3(EDN3):c.*1255C>T SNV Uncertain significance 339159 rs12322 GRCh37: 20:57900769-57900769
GRCh38: 20:59325714-59325714
38 EDN3 NM_207034.3(EDN3):c.*1111G>A SNV Uncertain significance 339157 rs886056888 GRCh37: 20:57900625-57900625
GRCh38: 20:59325570-59325570
39 EDN3 NM_207034.3(EDN3):c.543-7C>T SNV Uncertain significance 339125 rs886056874 GRCh37: 20:57897420-57897420
GRCh38: 20:59322365-59322365
40 EDN3 NM_207034.3(EDN3):c.*143C>T SNV Uncertain significance 339135 rs71321536 GRCh37: 20:57899657-57899657
GRCh38: 20:59324602-59324602
41 EDN3 NM_207034.3(EDN3):c.-164G>A SNV Uncertain significance 339116 rs749699689 GRCh37: 20:57875704-57875704
GRCh38: 20:59300649-59300649
42 EDN3 NM_207034.3(EDN3):c.-85G>A SNV Uncertain significance 339118 rs886056873 GRCh37: 20:57875783-57875783
GRCh38: 20:59300728-59300728
43 EDN3 NM_207034.3(EDN3):c.-115G>A SNV Uncertain significance 895679 GRCh37: 20:57875753-57875753
GRCh38: 20:59300698-59300698
44 EDN3 NM_207034.3(EDN3):c.-86G>A SNV Uncertain significance 895680 GRCh37: 20:57875782-57875782
GRCh38: 20:59300727-59300727
45 EDN3 NM_207034.3(EDN3):c.*147C>T SNV Uncertain significance 895749 GRCh37: 20:57899661-57899661
GRCh38: 20:59324606-59324606
46 EDN3 NM_207034.3(EDN3):c.*149C>A SNV Likely benign 895750 GRCh37: 20:57899663-57899663
GRCh38: 20:59324608-59324608
47 EDN3 NM_207034.3(EDN3):c.*531A>G SNV Likely benign 339143 rs11570355 GRCh37: 20:57900045-57900045
GRCh38: 20:59324990-59324990
48 EDN3 NM_207034.3(EDN3):c.*177C>A SNV Likely benign 339141 rs11570354 GRCh37: 20:57899691-57899691
GRCh38: 20:59324636-59324636
49 EDN3 NM_207034.3(EDN3):c.*962C>T SNV Likely benign 339155 rs138371508 GRCh37: 20:57900476-57900476
GRCh38: 20:59325421-59325421
50 EDN3 NM_207034.3(EDN3):c.*44T>C SNV Likely benign 339128 rs200872063 GRCh37: 20:57899558-57899558
GRCh38: 20:59324503-59324503

UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease 4:

72
# Symbol AA change Variation ID SNP ID
1 EDN3 p.Ala224Thr VAR_009079 rs11570351

Expression for Hirschsprung Disease 4

Search GEO for disease gene expression data for Hirschsprung Disease 4.

Pathways for Hirschsprung Disease 4

GO Terms for Hirschsprung Disease 4

Sources for Hirschsprung Disease 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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