HCAD
MCID: HRS016
MIFTS: 21

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

Categories: Genetic diseases

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

MalaCards integrated aliases for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction:

Name: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 58 76 30 13 6
Hcad 58 76
Hirschsprung Disease, Cardiac Defects, Autonomic Dysfunction 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
normal karyotype
one patient has been reported (last curated november 2016)


HPO:

33
hirschsprung disease, cardiac defects, and autonomic dysfunction:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

UniProtKB/Swiss-Prot : 76 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 hirschsprung disease 1. An important gene associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction is ECE1 (Endothelin Converting Enzyme 1). Related phenotypes are hypertension and short nose

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:

# Related Disease Score Top Affiliating Genes
1 huntington disease 10.3
2 hirschsprung disease 1 10.2

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

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

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 short nose 33 HP:0003196
3 patent ductus arteriosus 33 HP:0001643
4 atrial septal defect 33 HP:0001631
5 prominent nasal bridge 33 HP:0000426
6 aganglionic megacolon 33 HP:0002251
7 status epilepticus 33 HP:0002133
8 agitation 33 HP:0000713
9 bulbous nose 33 HP:0000414
10 ventricular septal defect 33 HP:0001629
11 tapered finger 33 HP:0001182
12 micropenis 33 HP:0000054
13 cupped ear 33 HP:0000378
14 tachycardia 33 HP:0001649
15 posteriorly rotated ears 33 HP:0000358
16 hyperconvex nail 33 HP:0001795
17 contractures of the interphalangeal joint of the thumb 33 HP:0009626
18 abnormal autonomic nervous system physiology 33 HP:0012332

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypertension

Neurologic Behavioral Psychiatric Manifestations:
agitation

Cardiovascular Heart:
tachycardia
ductus arteriosus
ventricular septal defect, subaortic, small
atrial septal defect, small

Head And Neck Nose:
small nose
high nasal bridge
bulbous nasal tip

Skeletal Hands:
tapered fingers
contractures at the interphalangeal joints of the thumbs
contractures at the proximal interphalangeal joints, bilaterally

Metabolic Features:
core temperatures as high as 40.5 degrees c

Neurologic Central Nervous System:
status epilepticus

Genitourinary External Genitalia Male:
micropenis

Head And Neck Ears:
posteriorly rotated ears
cupped ears

Skin Nails Hair Nails:
hyperconvex nails

Skin Nails Hair Skin:
single left palmar crease

Clinical features from OMIM:

613870

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:

# Genetic test Affiliating Genes
1 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 30 ECE1

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:

# Title Authors Year
1
Age at onset of Huntington disease is not modulated by the R72P variation in TP53 and the R196K variation in the gene coding for the human caspase activated DNase (hCAD). ( 16202123 )
2005
2
Modulation of age at onset of Huntington disease patients by variations in TP53 and human caspase activated DNase (hCAD) genes. ( 15644269 )
2005
3
HCAD, closing the gap between breakpoints and genes. ( 15608250 )
2005
4
A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. ( 9915973 )
1999
5
The human caspase-activated DNase gene (hCAD): genomic structure, exonic single-nucleotide polymorphisms, and a highly polymorphic dinucleotide repeat at the hCAD locus. ( 10570914 )
1999
6
Organization of the gene encoding the human endothelin-converting enzyme (ECE-1). ( 8530372 )
1995

Variations for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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

76
# 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
# 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
2 ECE1 NM_001113348.1(ECE1): c.2212C> T (p.Arg738Cys) single nucleotide variant Pathogenic rs3026906 GRCh38 Chromosome 1, 21220008: 21220008

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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