Possible Causes for Abdominal Distension & Mutation in the ACTG2 Gene Chronic Intestinal Pseudo-Obstruction Moreover, a mutational hotspot in the ACTG2 gene was recognized. Genetic heterogeneity is evident. [ncbi.nlm.nih.gov] A 59-year-old woman presented to our hospital with a 6-month history of nausea, weight loss, and abdominal distension. [ncbi.nlm.nih.gov] We report the case of a male with a diagnosis of sarcoidosis that was admitted due to abdominal distension and pain. [ncbi.nlm.nih.gov] Megacystis - Microcolon - Intestinal Hypoperistalsis Syndrome This female newborn with MMIHS had a c.532C>A /p.Arg178Ser heterozygous de novo mutation detected in the ACTG2 gene. [ncbi.nlm.nih.gov] Abdominal distension is a consequence of the distended, unobstructed urinary bladder with or without hydronephrosis. [ncbi.nlm.nih.gov] […] in the ACTG2 gene. [rarediseases.info.nih.gov] Megaduodenum and/or Megacystis ACTG2 gene mutations lead to production of an altered γ-2 actin protein. [medlineplus.gov] It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhoea, [bioportal.bioontology.org] Abdominal distention Abdominal distension, Bloating, Abdominal bloating, Belly bloating, Distended abdomen, Abdominal swelling [more] Distention of the abdomen. [rarediseases.oscar.ncsu.edu] X-Linked Chronic Intestinal Pseudoobstruction Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. [ghr.nlm.nih.gov] Symptoms Abdominal distension and discomfort, bloating and nausea are common, particularly after meals. [my.clevelandclinic.org] The typical clinical manifestation is characterized by recurrent episodes of abdominal pain, abdominal distension, and inability to defecate. [genome.jp] Familial Visceral Myopathy […] in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 29387497 ) Whittington J.R.. [malacards.org] A 55-year-old woman with a history of bowel dysmotility presented with abdominal distension and peritonitis. [ncbi.nlm.nih.gov] Characteristic clinical features included a chronic, insidious history of repeated attacks of abdominal distension, abdominal pain, and vomiting. [scipers.com] Intestinal Pseudo-Obstruction Moreover, a mutational hotspot in the ACTG2 gene was recognized. Genetic heterogeneity is evident. [journals.lww.com] Although intravenous immunoglobulin was administered, the fever and abdominal distension persisted. [ncbi.nlm.nih.gov] Although As(2)O(3) was discontinued and dexamethasone was administered, vomiting and abdominal distension worsened. [ncbi.nlm.nih.gov] Chronic Intestinal Pseudoobstruction In some people with CIPO, the condition is caused by variations ( mutations ) affecting the FLNA or ACTG2 gene. [rarediseases.info.nih.gov] CASE REPORT A 60-year-old white male patient had been complaining of abdominal distension and discomfort episodes for 24 years. [scielo.br] […] in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 29387497 ) Whittington J.R.. [malacards.org] Intestinal Pseudo-Obstruction - Patent Ductus Arteriosus - Natal Teeth Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. [ghr.nlm.nih.gov] At 2 weeks of age he had anepisode of abdominal distension and visibleperistalsis. [pdfslide.net] […] in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 6 Wangler MF...Beaudet A 24676022 2014 3 Megacystis-Microcolon-Intestinal [malacards.org] Megacystis - Megaureter Syndrome […] in the ACTG2 gene. [rarediseases.info.nih.gov] distension. [jnsbm.org] […] wall distension, heart disease, potters syndrome (oligo +pulm hypoplasia_ club feet, limb contractures mild (category 3) - treat symptoms, rarely needs intervention moderate [quizlet.com] Mungan Syndrome Heterozygous mutations in the ACTG2 gene were found in patients with CIPO characterized by degeneration of enteric smooth muscle, as well as in the “megacystis, microcolon [jnmjournal.org] distension, bilious vomiting and fever of 38oC. [scielo.isciii.es] Relatives reported that they were affected by abdominal distension, diarrhea, and recurrent abdominal pain. Their brother and sister are alive and well. [nature.com] Familial Congenital Nasolacrimal Duct Obstruction USHER SYNDROME TYPE 3A CPT CODE: 81401 Go to top VISCERAL MYOPATHY GENE: ACTG2 (actin, gamma-2, smooth muscle, enteric) CHROMOSOMAL LOCATION: 2p13.1 Individuals with pathogenic [chginc.org] After 12 hours of onset, there may be generalised abdominal pain, vomiting, abdominal distension and constipation due to complete intestinal obstruction. [aimted.com] Prenatal testing is available when a mutation is known in the family. [chginc.org] Autosomal Recessive Spinocerebellar Ataxia Type 17 USHER SYNDROME TYPE 3A CPT CODE: 81401 Go to top VISCERAL MYOPATHY GENE: ACTG2 (actin, gamma-2, smooth muscle, enteric) CHROMOSOMAL LOCATION: 2p13.1 Individuals with pathogenic [chginc.org] distension Pes cavus and scoliosis present in some patients Pigmentary retinopathy Laboratory findings Acanthocytosis on peripheral blood smears (constant finding) Decreased [emedicine.medscape.com] Prenatal testing is available when a mutation is known in the family. [chginc.org] Spinocerebellar Ataxia Type 4 USHER SYNDROME TYPE 3A CPT CODE: 81401 Go to top VISCERAL MYOPATHY GENE: ACTG2 (actin, gamma-2, smooth muscle, enteric) CHROMOSOMAL LOCATION: 2p13.1 Individuals with pathogenic [chginc.org] distension Pes cavus and scoliosis present in some patients Pigmentary retinopathy Laboratory findings Acanthocytosis on peripheral blood smears (constant finding) Decreased [emedicine.medscape.com] Prenatal testing is available when a mutation is known in the family. [chginc.org] Spinocerebellar Ataxia Type 22 USHER SYNDROME TYPE 3A CPT CODE: 81401 Go to top VISCERAL MYOPATHY GENE: ACTG2 (actin, gamma-2, smooth muscle, enteric) CHROMOSOMAL LOCATION: 2p13.1 Individuals with pathogenic [chginc.org] distension Pes cavus and scoliosis present in some patients Pigmentary retinopathy Laboratory findings Acanthocytosis on peripheral blood smears (constant finding) Decreased [emedicine.medscape.com] Prenatal testing is available when a mutation is known in the family. [chginc.org]