MCID: HRS016
MIFTS: 20

Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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 75 29 13 6
Hcad 57 75
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:



Summaries for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

UniProtKB/Swiss-Prot : 75 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 aging. An important gene associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction is ECE1 (Endothelin Converting Enzyme 1). Related phenotypes are hypertension and dysautonomia

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 10.1
2 aging 10.1
3 hirschsprung disease 1 10.0
4 autonomic dysfunction 10.0

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

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 Behavioral Psychiatric Manifestations:
agitation

Neurologic Central Nervous System:
status epilepticus

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

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 dysautonomia 32 HP:0002459
3 short nose 32 HP:0003196
4 patent ductus arteriosus 32 HP:0001643
5 atrial septal defect 32 HP:0001631
6 prominent nasal bridge 32 HP:0000426
7 aganglionic megacolon 32 HP:0002251
8 agitation 32 HP:0000713
9 bulbous nose 32 HP:0000414
10 ventricular septal defect 32 HP:0001629
11 tapered finger 32 HP:0001182
12 micropenis 32 HP:0000054
13 status epilepticus 32 HP:0002133
14 cupped ear 32 HP:0000378
15 tachycardia 32 HP:0001649
16 posteriorly rotated ears 32 HP:0000358
17 hyperconvex nail 32 HP:0001795
18 contractures of the interphalangeal joint of the thumb 32 HP:0009626

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

Publications for Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

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

# 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:

75
# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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