HCAD
MCID: HRS016
MIFTS: 24

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 57 74 29 13 6
Hcad 57 74
Hirschsprung Disease, Cardiac Defects, Autonomic Dysfunction 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

OMIM 57 613870
MeSH 44 D006627
MedGen 42 C3151237

Summaries for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

UniProtKB/Swiss-Prot : 74 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). Affiliated tissues include smooth muscle, brain and lung, and related phenotypes are hypertension and short nose

More information 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 10.4
2 hirschsprung disease 1 10.2
3 heart disease 10.2
4 autonomic dysfunction 10.2

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

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

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 short nose 32 HP:0003196
3 patent ductus arteriosus 32 HP:0001643
4 atrial septal defect 32 HP:0001631
5 prominent nasal bridge 32 HP:0000426
6 aganglionic megacolon 32 HP:0002251
7 status epilepticus 32 HP:0002133
8 micropenis 32 HP:0000054
9 agitation 32 HP:0000713
10 bulbous nose 32 HP:0000414
11 ventricular septal defect 32 HP:0001629
12 tapered finger 32 HP:0001182
13 cupped ear 32 HP:0000378
14 tachycardia 32 HP:0001649
15 posteriorly rotated ears 32 HP:0000358
16 hyperconvex nail 32 HP:0001795
17 contractures of the interphalangeal joint of the thumb 32 HP:0009626
18 abnormal autonomic nervous system physiology 32 HP:0012332

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Genitourinary External Genitalia Male:
micropenis

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

Neurologic Behavioral Psychiatric Manifestations:
agitation

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 29 ECE1

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

MalaCards organs/tissues related to Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction:

41
Smooth Muscle, Brain, Lung, Testis, T Cells

Publications for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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

(show all 39)
# Title Authors PMID Year
1
A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. 38 8 71
9915973 1999
2
Organization of the gene encoding the human endothelin-converting enzyme (ECE-1). 8 71
8530372 1995
3
Role of Endothelin-1/Endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice. 8
9649553 1998
4
Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 8
9449664 1998
5
Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. 8
9449665 1998
6
BRS Violeta (BRS Rúbea × IAC 1398-21) grape juice powder produced by foam mat drying. Part I: Effect of drying temperature on phenolic compounds and antioxidant activity. 38
31260997 2019
7
Effect of the frying process on the composition of hydroxycinnamic acid derivatives and antioxidant activity in flesh colored potatoes. 38
30064800 2018
8
Pre-drying and submerged cap winemaking: Effects on polyphenolic compounds and sensory descriptors. Part II: BRS Carmem and Bordô (Vitis labrusca L.). 38
28455055 2015
9
Structure-activity study for (bis)ureidopropyl- and (bis)thioureidopropyldiamine LSD1 inhibitors with 3-5-3 and 3-6-3 carbon backbone architectures. 38
25725609 2015
10
Inhibitor of caspase-activated DNase expression enhances caspase-activated DNase expression and inhibits oxidative stress-induced chromosome breaks at the mixed lineage leukaemia gene in nasopharyngeal carcinoma cells. 38
26019688 2015
11
Low molecular weight amidoximes that act as potent inhibitors of lysine-specific demethylase 1. 38
22876979 2012
12
On the peroxyl scavenging activity of hydroxycinnamic acid derivatives: mechanisms, kinetics, and importance of the acid-base equilibrium. 38
22511179 2012
13
Hypoplastic coronary artery disease: A rare cause of sudden cardiac death and its treatment with an implantable defibrillator. 38
30532882 2011
14
Hypoplastic coronary artery disease causing sudden death. Report of two cases and review of the literature. 38
19616973 2010
15
Multi-step aberrant CpG island hyper-methylation is associated with the progression of adult T-cell leukemia/lymphoma. 38
20019193 2010
16
Accumulation of aberrant CpG hypermethylation by Helicobacter pylori infection promotes development and progression of gastric MALT lymphoma. 38
19639175 2009
17
Myocardial Infarction in a Young Man due to a Hypoplastic Coronary Artery. 38
19949606 2009
18
Herpes simplex virus type 1 thymidine kinase sequence fused to the lacz gene increases levels of {beta}-galactosidase activity per genome of high-capacity but not first-generation adenoviral vectors in vitro and in vivo. 38
19073729 2009
19
Targeted chromosomal insertion of large DNA into the human genome by a fiber-modified high-capacity adenovirus-based vector system. 38
18769728 2008
20
Genetic complementation of human muscle cells via directed stem cell fusion. 38
18334989 2008
21
Feasibility of a home-based telerehabilitation system compared to usual care: arm/hand function in patients with stroke, traumatic brain injury and multiple sclerosis. 38
18633000 2008
22
Application of a methylation gene panel by quantitative PCR for lung cancers. 38
16644104 2007
23
Identification of a novel testis-specific gene in mice and its potential roles in spermatogenesis. 38
17309138 2007
24
Transduction of myogenic cells by retargeted dual high-capacity hybrid viral vectors: robust dystrophin synthesis in duchenne muscular dystrophy muscle cells. 38
16443396 2006
25
Identification of a 94-bp GC-rich element in the smooth muscle myosin heavy-chain promoter controlling vascular smooth muscle cell-specific gene expression. 38
16845174 2006
26
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). 38
16202123 2005
27
High-frequency Alu-mediated genomic recombination/deletion within the caspase-activated DNase gene in human hepatoma. 38
16007181 2005
28
3-phenylpropionate catabolism and the Escherichia coli oxidative stress response. 38
15808934 2005
29
Transfer of the full-length dystrophin-coding sequence into muscle cells by a dual high-capacity hybrid viral vector with site-specific integration ability. 38
15709034 2005
30
Modulation of age at onset of Huntington disease patients by variations in TP53 and human caspase activated DNase (hCAD) genes. 38
15644269 2005
31
Hypoplastic coronary artery disease: report of one case. 38
15657202 2005
32
HCAD, closing the gap between breakpoints and genes. 38
15608250 2005
33
Identification and characterization of simple sequence repeats in the genomes of Shigella species. 38
14644500 2003
34
Genes for chlorogenate and hydroxycinnamate catabolism (hca) are linked to functionally related genes in the dca-pca-qui-pob-hca chromosomal cluster of Acinetobacter sp. strain ADP1. 38
12514037 2003
35
The human caspase-activated DNase gene (hCAD): genomic structure, exonic single-nucleotide polymorphisms, and a highly polymorphic dinucleotide repeat at the hCAD locus. 38
10570914 1999
36
The interaction of PTH and dietary phosphorus and calcium on serum calcitriol levels in the rat with experimental renal failure. 38
8856210 1996
37
Purification and properties of caldesmon-like protein from molluscan smooth muscle. 38
8205392 1994
38
Factors in the development of secondary hyperparathyroidism during graded renal failure in the rat. 38
8007598 1994
39
Hypoplastic coronary artery disease within the spectrum of sudden unexpected death in young and middle age adults. 38
8116584 1993

Variations for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ECE1 NM_001113348.2(ECE1): c.2212C> T (p.Arg738Cys) single nucleotide variant Pathogenic rs3026906 1:21546501-21546501 1:21220008-21220008

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

74
# Symbol AA change Variation ID SNP ID
1 ECE1 p.Arg754Cys VAR_026747 rs3026906

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

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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