KEGG   DISEASE: 腹部ミオパチー
エントリ  
H02553                                                             
名称    
腹部ミオパチー
概要    
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.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 13 消化器系の疾患
  小腸の疾患
   DA90  小腸の非構造的発達異常
    H02553  腹部ミオパチー
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06539  筋細胞の細胞骨格
   H02553  腹部ミオパチー
パスウェイ 
hsa04820  Cytoskeleton in muscle cells
hsa04270  Vascular smooth muscle contraction
hsa04810  Regulation of actin cytoskeleton
ネットワーク
nt06539 Cytoskeleton in muscle cells
病因遺伝子 
(VSCM1) ACTG2 [HSA:72] [KO:K12315]
(VSCM2) MYH11 [HSA:4629] [KO:K10352]
リンク   
ICD-11: DA90.2
MeSH: D007418
OMIM: 155310 619350
文献    
PMID:22960657 (VSCM1)
  著者
Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Jarvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S
  タイトル
Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy.
  雑誌
Gastroenterology 143:1482-1491.e3 (2012)
DOI:10.1053/j.gastro.2012.08.045
文献    
PMID:31389005 (VSCM2)
  著者
Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A
  タイトル
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.
  雑誌
Clin Genet 96:473-477 (2019)
DOI:10.1111/cge.13617
文献    
  著者
Hashmi SK, Ceron RH, Heuckeroth RO
  タイトル
Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.
  雑誌
Am J Physiol Gastrointest Liver Physiol 320:G919-G935 (2021)
DOI:10.1152/ajpgi.00066.2021
LinkDB    

» English version

DBGET integrated database retrieval system