HCAD
MCID: HRS016
MIFTS: 17

Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (HCAD) malady

Categories: Genetic diseases

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

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

Name: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 54 66 29 13
Hcad 66

Characteristics:

HPO:

32
hirschsprung disease, cardiac defects, and autonomic dysfunction:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613870
MedGen 40 C3151237
MeSH 42 D006627

Summaries for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

UniProtKB/Swiss-Prot : 66 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 hcad, is related to huntington disease and autonomic dysfunction, and has symptoms including dysautonomia, short nose and patent ductus arteriosus. An important gene associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction is ECE1 (Endothelin Converting Enzyme 1).

Description from OMIM: 613870

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

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

id Related Disease Score Top Affiliating Genes
1 huntington disease 10.0
2 autonomic dysfunction 10.0

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

Clinical features from OMIM:

613870

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

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 dysautonomia 32 HP:0002459
2 short nose 32 HP:0003196
3 patent ductus arteriosus 32 HP:0001643
4 aganglionic megacolon 32 HP:0002251
5 bulbous nose 32 HP:0000414
6 ventricular septal defect 32 HP:0001629
7 tapered finger 32 HP:0001182
8 micropenis 32 HP:0000054
9 cupped ear 32 HP:0000378
10 hyperconvex nail 32 HP:0001795
11 posteriorly rotated ears 32 HP:0000358
12 contractures of the interphalangeal joint of the thumb 32 HP:0009626
13 atrial septal defect 32 HP:0001631

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

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

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

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

id Genetic test Affiliating Genes
1 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 29

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

Publications for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 ECE1 p.Arg754Cys VAR_026747 rs3026906

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ECE1 NM_001113348.1(ECE1): c.2212C> T (p.Arg738Cys) single nucleotide variant Pathogenic rs3026906 GRCh37 Chromosome 1, 21546501: 21546501

Expression for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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

Pathways for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

GO Terms for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

Sources for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....