MCID: ACT215
MIFTS: 4

Actg2-Related Disorders

Categories: Rare diseases

Aliases & Classifications for Actg2-Related Disorders

MalaCards integrated aliases for Actg2-Related Disorders:

Name: Actg2-Related Disorders 23 49

Characteristics:

GeneReviews:

23
Penetrance Thus far, penetrance of actg2-related disorders appears to be complete, as no family members heterozygous for a known actg2 pathogenic variant have been noted to be completely symptom free. however, the clinical severity can range within a family, and mildly affected individuals may not be aware of the diagnosis. examples: (1) one individual (in a multi-generation finnish family) with an actg2 pathogenic variant reported episodic mild abdominal pain but no surgery and no signs of visceral myopathy at age 19 years [lehtonen et al 2012]; (2) one individual diagnosed with “spastic colon” and irritable bowel syndrome had not required surgery or intervention in middle age [wangler et al 2014]...

Classifications:



Summaries for Actg2-Related Disorders

NIH Rare Diseases : 49 ACTG2-related disorders are a subset of visceral myopathy (a condition where the intestine is unable to push food through but where there is not a real intestinal obstruction) with variable involvement of the bladder and intestine. Bladder involvement can range from neonatal megacystis (a bladder with increased size) and megaureter (ureter abnormally wide) at the more severe end, to recurrent urinary tract infections and bladder dysfunction at the milder end. It includes three different conditions, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), Prune belly sequence or syndrome and chronic intestinal pseudoobstruction (CIPO). It is caused by alterations (mutations) of the ACTG2 gene and is inherited in an autosomal dominant manner.  Affected infants (with or without evidence of intestinal malrotation) often present with feeding intolerance and findings of non-mechanical bowel obstruction that persist after successful surgical correction of malrotation. Individuals who develop manifestations of CIPO in later childhood or adulthood oftenhave episodic waxing and waning of bowel motility. They may need frequent abdominal surgeries (perhaps related to  intestinal malrotation or adhesions causing mechanical obstruction) resulting in resection of dilated segments of bowel, often becoming dependent on total parenteral nutrition. Last updated: 8/19/2015

MalaCards based summary : Actg2-Related Disorders Affiliated tissues include colon.

GeneReviews: NBK299311

Related Diseases for Actg2-Related Disorders

Symptoms & Phenotypes for Actg2-Related Disorders

Drugs & Therapeutics for Actg2-Related Disorders

Search Clinical Trials , NIH Clinical Center for Actg2-Related Disorders

Genetic Tests for Actg2-Related Disorders

Anatomical Context for Actg2-Related Disorders

MalaCards organs/tissues related to Actg2-Related Disorders:

38
Colon

Publications for Actg2-Related Disorders

Articles related to Actg2-Related Disorders:

# Title Authors Year
1
ACTG2-Related Disorders ( 26072522 )
1993

Variations for Actg2-Related Disorders

Expression for Actg2-Related Disorders

Search GEO for disease gene expression data for Actg2-Related Disorders.

Pathways for Actg2-Related Disorders

GO Terms for Actg2-Related Disorders

Sources for Actg2-Related Disorders

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58 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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