KEGG   DISEASE: Visceral myopathy
Entry
H02553                      Disease                                
Name
Visceral myopathy
Description
Visceral myopathy (VSCM) is a rare inherited form of myopathic pseudo-obstruction. It is characterized by impaired functions of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. VSCM is most commonly caused by mutations in contractile apparatus cytoskeletal proteins.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 13 Diseases of the digestive system
  Diseases of small intestine
   DA90  Nonstructural developmental anomalies of small intestine
    H02553  Visceral myopathy
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H02553  Visceral myopathy
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa04270  Vascular smooth muscle contraction
hsa04810  Regulation of actin cytoskeleton
Network
nt06539 Cytoskeleton in muscle cells
Gene
(VSCM1) ACTG2 [HSA:72] [KO:K12315]
(VSCM2) MYH11 [HSA:4629] [KO:K10352]
Other DBs
ICD-11: DA90.2
MeSH: D007418
OMIM: 155310 619350
Reference
PMID:22960657 (VSCM1)
  Authors
Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Jarvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S
  Title
Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy.
  Journal
Gastroenterology 143:1482-1491.e3 (2012)
DOI:10.1053/j.gastro.2012.08.045
Reference
PMID:31389005 (VSCM2)
  Authors
Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A
  Title
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.
  Journal
Clin Genet 96:473-477 (2019)
DOI:10.1111/cge.13617
Reference
PMID:33729000
  Authors
Hashmi SK, Ceron RH, Heuckeroth RO
  Title
Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.
  Journal
Am J Physiol Gastrointest Liver Physiol 320:G919-G935 (2021)
DOI:10.1152/ajpgi.00066.2021
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