Familial Visceral Myopathy

Description

Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Visceral Myopathy

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology
  • Umbilical hernia
  • Low-set, posteriorly rotated ears
  • Joint stiffness
  • Camptodactyly of finger
  • Prominent nasal bridge

And another 13 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Familial Visceral Myopathy Is also known as familial hollow visceral myopathy, megaduodenum and/or megacystis, hereditary hollow visceral myopathy.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Familial Visceral Myopathy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Visceral Myopathy (ACTG2).

By Center for Human Genetics, Inc (United States).

ACTG2
Specificity
100 %
Genes
100 %
Intestinal Pseudo-Obstruction (ACTG2).

By Center for Human Genetics, Inc (United States).

ACTG2
Specificity
100 %
Genes
100 %
ACTG2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ACTG2
Specificity
100 %
Genes
100 %
Centronuclear visceral (sequence analysis of ACTG2 gene).

By CGC Genetics (Portugal).

ACTG2
Specificity
100 %
Genes
100 %
ACTG2.

By MGZ Medical Genetics Center (Germany).

ACTG2
Specificity
100 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center (Germany).

BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A12, SLC25A3, SLC25A4, SLC6A8, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TIMM8A , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
100 %
Visceral myopathy.

By Centogene AG - the Rare Disease Company (Germany).

ACTG2
Specificity
100 %
Genes
100 %

We have 5 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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