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 58 30 6
Pseudoobstruction, Chronic Intestinal, Neuropathic 58
Pseudoobstruction, Idiopathic Intestinal 58
Enteric Neuropathy, Familial 58

Classifications:



External Ids:

OMIM 58 609629
MedGen 43 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).

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 11.4
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 30

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 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
38 KEGG
39 LifeMap
41 LOVD
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
Content
Loading form....