Visceral myopathy 1
- Synonyms
- Infantile visceral myopathy; Megaduodenum and/or megacystis; Pseudoobstruction idiopathic intestinal; Visceral myopathy
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Pranjali K Bhagwat
- Michael F Wangler
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (13 available)
Genes See tests for all associated and related genes
Also known as: ACT, ACTA3, ACTE, ACTL3, ACTSG, MMIHS5, VSCM, VSCM1, ACTG2
Summary: actin gamma 2, smooth muscle
Clinical features
Help- Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Polyhydramnios
- Abnormality of the digestive system
- Abdominal distention
Abdominal distention
- MedGen UID: 34
- Concept ID: C0000731
- Finding: Finding
Abnormality of the digestive system
- Aganglionic megacolon
Aganglionic megacolon
- MedGen UID: 5559
- Concept ID: C0019569
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Diarrhea
Diarrhea
- MedGen UID: 8360
- Concept ID: C0011991
- Finding: Sign or Symptom
Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Gastroparesis
Gastroparesis
- MedGen UID: 101809
- Concept ID: C0152020
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Intestinal pseudo-obstruction
Intestinal pseudo-obstruction
- MedGen UID: 5864
- Concept ID: C0021847
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Malnutrition
Malnutrition
- MedGen UID: 56429
- Concept ID: C0162429
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Megaduodenum
Megaduodenum
- MedGen UID: 75604
- Concept ID: C0266177
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Microcolon
Microcolon
- MedGen UID: 82734
- Concept ID: C0266200
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Thinning of outer muscular layer of small bowel
Thinning of outer muscular layer of small bowel
- MedGen UID: 860148
- Concept ID: C4011711
- Finding: Finding
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Abdominal distention
- Abnormality of the genitourinary system
- Hydronephrosis
Hydronephrosis
- MedGen UID: 42531
- Concept ID: C0020295
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Megacystis
Megacystis
- MedGen UID: 343318
- Concept ID: C1855311
- Finding: Finding
Abnormality of the genitourinary system
- Urinary retention
Urinary retention
- MedGen UID: 38289
- Concept ID: C0080274
- Finding: Functional Concept
Abnormality of the genitourinary system
- Vesicoureteral reflux
Vesicoureteral reflux
- MedGen UID: 21852
- Concept ID: C0042580
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hydronephrosis
- Abnormality of the immune system
- Pancreatitis
Pancreatitis
- MedGen UID: 14586
- Concept ID: C0030305
- Finding: Disease or Syndrome
Abnormality of the immune system
- Pancreatitis
- Constitutional symptom
- Abdominal pain
Abdominal pain
- MedGen UID: 7803
- Concept ID: C0000737
- Finding: Sign or Symptom
Constitutional symptom
- Abdominal pain
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