MCID: VSC056
MIFTS: 12

Visceral Neuropathy, Familial, Autosomal Dominant

Categories: Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Visceral Neuropathy, Familial, Autosomal Dominant

MalaCards integrated aliases for Visceral Neuropathy, Familial, Autosomal Dominant:

Name: Visceral Neuropathy, Familial, Autosomal Dominant 57 29 6
Pseudoobstruction, Chronic Intestinal, Neuropathic 57
Pseudoobstruction, Idiopathic Intestinal 57
Enteric Neuropathy, Familial 57

Classifications:



External Ids:

OMIM 57 609629
MedGen 42 C1864996

Summaries for Visceral Neuropathy, Familial, Autosomal Dominant

MalaCards based summary : Visceral Neuropathy, Familial, Autosomal Dominant, also known as pseudoobstruction, chronic intestinal, neuropathic, is related to visceral myopathy and intestinal pseudo-obstruction. An important gene associated with Visceral Neuropathy, Familial, Autosomal Dominant is ACTG2 (Actin, Gamma 2, Smooth Muscle, Enteric).

Description from OMIM: 609629

Related Diseases for Visceral Neuropathy, Familial, Autosomal Dominant

Diseases in the Visceral Neuropathy Familial family:

Visceral Neuropathy, Familial, Autosomal Recessive Visceral Neuropathy, Familial, Autosomal Dominant

Diseases related to Visceral Neuropathy, Familial, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 visceral myopathy 11.3
2 intestinal pseudo-obstruction 11.2

Symptoms & Phenotypes for Visceral Neuropathy, Familial, Autosomal Dominant

Clinical features from OMIM:

609629

Drugs & Therapeutics for Visceral Neuropathy, Familial, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Visceral Neuropathy, Familial, Autosomal Dominant

Genetic Tests for Visceral Neuropathy, Familial, Autosomal Dominant

Genetic tests related to Visceral Neuropathy, Familial, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Visceral Neuropathy, Familial, Autosomal Dominant 29

Anatomical Context for Visceral Neuropathy, Familial, Autosomal Dominant

Publications for Visceral Neuropathy, Familial, Autosomal Dominant

Variations for Visceral Neuropathy, Familial, Autosomal Dominant

ClinVar genetic disease variations for Visceral Neuropathy, Familial, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTG2 NM_001615.3(ACTG2): c.119G> A (p.Arg40His) single nucleotide variant Conflicting interpretations of pathogenicity rs587777386 GRCh37 Chromosome 2, 74128557: 74128557
2 ACTG2 NM_001615.3(ACTG2): c.119G> A (p.Arg40His) single nucleotide variant Conflicting interpretations of pathogenicity rs587777386 GRCh38 Chromosome 2, 73901430: 73901430
3 ACTG2 NM_001615.3(ACTG2): c.769C> T (p.Arg257Cys) single nucleotide variant Pathogenic rs587777387 GRCh37 Chromosome 2, 74141962: 74141962
4 ACTG2 NM_001615.3(ACTG2): c.769C> T (p.Arg257Cys) single nucleotide variant Pathogenic rs587777387 GRCh38 Chromosome 2, 73914835: 73914835

Expression for Visceral Neuropathy, Familial, Autosomal Dominant

Search GEO for disease gene expression data for Visceral Neuropathy, Familial, Autosomal Dominant.

Pathways for Visceral Neuropathy, Familial, Autosomal Dominant

GO Terms for Visceral Neuropathy, Familial, Autosomal Dominant

Sources for Visceral Neuropathy, Familial, Autosomal Dominant

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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