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 50 12
Hirschsprung Disease Cardiac Defects and Autonomic Dysfunction 68 25
 
Hscrcdad 68

Characteristics:

HPO:

62
hirschsprung disease, cardiac defects, and autonomic dysfunction:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 613870
MedGen35 C3151237
MeSH37 D006627

Summaries for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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UniProtKB/Swiss-Prot:68 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:50 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 dysfunction10.1

Symptoms for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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Clinical features from OMIM:

613870

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

(show all 13)
id Description Frequency HPO Source Accession
1 micropenis HP:0000054
2 posteriorly rotated ears HP:0000358
3 cupped ear HP:0000378
4 bulbous nose HP:0000414
5 tapered finger HP:0001182
6 ventricular septal defect HP:0001629
7 atria septal defect HP:0001631
8 patent ductus arteriosus HP:0001643
9 hyperconvex nail HP:0001795
10 aganglionic megacolon HP:0002251
11 dysautonomia HP:0002459
12 short nose HP:0003196
13 contractures of the interphalangeal joint of the thumb 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 Dysfunction25

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:

68
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)single nucleotide variantPathogenicrs3026906GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet