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

About this section

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

Name: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 52 12
Hirschsprung Disease Cardiac Defects and Autonomic Dysfunction 70 27
 
Hscrcdad 70

Characteristics:

HPO:

64
hirschsprung disease, cardiac defects, and autonomic dysfunction:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 613870
MedGen37 C3151237
MeSH39 D006627

Summaries for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

About this section
UniProtKB/Swiss-Prot:70 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:52 613870

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

About this section

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 & Phenotypes for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

About this section


Clinical features from OMIM:

613870

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

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 micropenis64 HP:0000054
2 posteriorly rotated ears64 HP:0000358
3 cupped ear64 HP:0000378
4 bulbous nose64 HP:0000414
5 tapered finger64 HP:0001182
6 ventricular septal defect64 HP:0001629
7 atria septal defect64 HP:0001631
8 patent ductus arteriosus64 HP:0001643
9 hyperconvex nail64 HP:0001795
10 aganglionic megacolon64 HP:0002251
11 dysautonomia64 HP:0002459
12 short nose64 HP:0003196
13 contractures of the interphalangeal joint of the thumb64 HP:0009626

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

About this section

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

About this section

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

id Genetic test Affiliating Genes
1 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction27

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

About this section

Publications for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

About this section

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

About this section

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

70
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

About this section
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

About this section

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

About this section

Sources for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet