MCID: VSC056
MIFTS: 15

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
Autosomal Dominant Familial Visceral Neuropathy 12
Pseudoobstruction, Idiopathic Intestinal 57
Enteric Neuropathy, Familial 57

Classifications:



External Ids:

Disease Ontology 12 DOID:0080682
OMIM® 57 609629
MedGen 41 C1864996

Summaries for Visceral Neuropathy, Familial, Autosomal Dominant

Disease Ontology : 12 An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait.

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

More information 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

Symptoms & Phenotypes for Visceral Neuropathy, Familial, Autosomal Dominant

Clinical features from OMIM®:

609629 (Updated 20-May-2021)

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

Articles related to Visceral Neuropathy, Familial, Autosomal Dominant:

# Title Authors PMID Year
1
Familial visceral neuropathy: a defined entity? 57
16088914 2005
2
Familial coexistence of achalasia and non-achalasic oesophageal dysmotility: evidence for a common pathogenesis. 57
1446873 1992
3
Familial enteric neuropathy with pseudoobstruction. 57
1864212 1991
4
Familial visceral neuropathy with autosomal dominant transmission. 57
3770377 1986
5
Idiopathic intestinal pseudo-obstruction: a familial visceral neuropathy. 57
7438508 1980

Variations for Visceral Neuropathy, Familial, Autosomal Dominant

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTG2 NM_001615.4(ACTG2):c.119G>A (p.Arg40His) SNV Pathogenic 132802 rs587777386 GRCh37: 2:74128557-74128557
GRCh38: 2:73901430-73901430
2 ACTG2 NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) SNV Pathogenic 132803 rs587777387 GRCh37: 2:74141962-74141962
GRCh38: 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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