MCID: HRS016
MIFTS: 17

Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction malady

Category: Genetic diseases (common)

Aliases & Classifications for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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Aliases & Descriptions for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction:

Name: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 51 12
Hirschsprung Disease Cardiac Defects and Autonomic Dysfunction 69 26
 
Hscrcdad 69

Characteristics:

HPO:

63
hirschsprung disease, cardiac defects, and autonomic dysfunction:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 613870
MedGen36 C3151237
MeSH38 D006627

Summaries for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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UniProtKB/Swiss-Prot:69 Hirschsprung disease cardiac defects and autonomic dysfunction: A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction.

MalaCards based summary: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction, also known as hirschsprung disease cardiac defects and autonomic dysfunction, is related to autonomic dysfunction, and has symptoms including micropenis, posteriorly rotated ears and cupped ear. An important gene associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction is ECE1 (Endothelin Converting Enzyme 1).

Description from OMIM:51 613870

Related Diseases for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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Diseases related to Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1autonomic dysfunction10.0

Symptoms for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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Clinical features from OMIM:

613870

Human phenotypes related to Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction:

 63 (show all 13)
id Description HPO Frequency HPO Source Accession
1 micropenis63 HP:0000054
2 posteriorly rotated ears63 HP:0000358
3 cupped ear63 HP:0000378
4 bulbous nose63 HP:0000414
5 tapered finger63 HP:0001182
6 ventricular septal defect63 HP:0001629
7 atria septal defect63 HP:0001631
8 patent ductus arteriosus63 HP:0001643
9 hyperconvex nail63 HP:0001795
10 aganglionic megacolon63 HP:0002251
11 dysautonomia63 HP:0002459
12 short nose63 HP:0003196
13 contractures of the interphalangeal joint of the thumb63 HP:0009626

Drugs & Therapeutics for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

Genetic Tests for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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Genetic tests related to Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction:

id Genetic test Affiliating Genes
1 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction26

Anatomical Context for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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Animal Models for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction or affiliated genes

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Publications for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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Articles related to Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction:

idTitleAuthorsYear
1
A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. (9915973)
1999

Variations for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction:

69
id Symbol AA change Variation ID SNP ID
1ECE1p.Arg754CysVAR_026747rs3026906

Clinvar genetic disease variations for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ECE1NM_001113348.1(ECE1): c.2212C> T (p.Arg738Cys)SNVPathogenicrs3026906GRCh37Chr 1, 21546501: 21546501

Expression for genes affiliated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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Search GEO for disease gene expression data for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction.

Pathways for genes affiliated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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GO Terms for genes affiliated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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Sources for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet