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.
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
Search interest in ACTG2
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 United States.
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 United States.
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 United States.
Centronuclear visceral (sequence analysis of ACTG2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACTG2 gene.
More info about this panel Portugal.
ACTG2 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ACTG2 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
Visceral myopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ACTG2 gene.
More info about this panel Germany.
Single gene testing ACTG2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ACTG2 gene.
More info about this panel Germany.
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 Spain.
ACTG2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACTG2 gene.
More info about this panel United States.
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 Finland.
FAMILIAL VISCERAL MYOPATHY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ACTG2 gene.
More info about this panel Spain.
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