ACTG2 gene related symptoms and diseases

All the information presented here about the ACTG2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ACTG2 gene

Symptoms // Phenotype % Cases
Hydroureter Common - Between 50% and 80% cases
Abnormality of cardiovascular system morphology Common - Between 50% and 80% cases
Umbilical hernia Common - Between 50% and 80% cases
Megacystis Common - Between 50% and 80% cases
Abdominal distention Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ACTG2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Microcephaly
  • Hypoperistalsis
  • Microcolon
  • Intestinal malrotation
  • Polyhydramnios
  • Cryptorchidism
  • Abdominal situs inversus
  • Aplasia/Hypoplasia of the abdominal wall musculature

And 64 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ACTG2 gene

Here you will find a list of rare diseases related to the ACTG2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL VISCERAL MYOPATHY


Alternate names

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy, megaduodenum and/or megacystis, hereditary hollow 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.

Most common symptoms of FAMILIAL VISCERAL MYOPATHY

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


More info about FAMILIAL VISCERAL MYOPATHY

SOURCES: ORPHANET

MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME


Alternate names

MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME Is also known as mmihs, megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome, berdon syndrome

Description

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.

Most common symptoms of MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Polyhydramnios
  • Umbilical hernia
  • Nausea and vomiting


More info about MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

SOURCES: ORPHANET

VISCERAL MYOPATHY; VSCM


Alternate names

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome, infantile visceral myopathy, mmih, megaduodenum and/or megacystis, pseudoobstruction, idiopathic intestinal, berdon syndrome

Description

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

Most common symptoms of VISCERAL MYOPATHY; VSCM

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


More info about VISCERAL MYOPATHY; VSCM

SOURCES: OMIM

MYOPATHIC INTESTINAL PSEUDOOBSTRUCTION



More info about MYOPATHIC INTESTINAL PSEUDOOBSTRUCTION

SOURCES: ORPHANET


Potential gene panels for ACTG2 gene

Visceral Myopathy (ACTG2) Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the ACTG2 gene.

More info about this panel

Intestinal Pseudo-Obstruction (ACTG2) Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the ACTG2 gene.

More info about this panel

ACTG2 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the ACTG2 gene.

More info about this panel

Centronuclear visceral (sequence analysis of ACTG2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ACTG2 gene.

More info about this panel

ACTG2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ACTG2 gene.

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Visceral myopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ACTG2 gene.

More info about this panel

Single gene testing ACTG2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ACTG2 gene.

More info about this panel

Visceral myopathy: ACTG2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ACTG2 gene.

More info about this panel

ACTG2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACTG2 gene.

More info about this panel

Renal Malformation Panel Panel

Finland.

By Blueprint Genetics Renal Malformation Panel that also includes the following genes: ROBO2 SALL1 BMP4 SIX1 SIX5 HNF1B WT1 ACTG2 FREM1 FREM2

More info about this panel

FAMILIAL VISCERAL MYOPATHY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ACTG2 gene.

More info about this panel


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