KEGG   DISEASE: Moyamoya diseaseHelp
Entry
H01396                      Disease                                

Name
Moyamoya disease
Description
Moyamoya disease is a rare cerebrovascular disease characterized by a progressive stenosis or occlusion of the terminal portion of the internal carotid artery. This disease is associated with the compensatory development of abnormally thin and fragile collateral vessels at the base of the brain.
Category
Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H01396  Moyamoya disease
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Cerebrovascular diseases
   8B22  Certain specified cerebrovascular diseases
    H01396  Moyamoya disease
BRITE hierarchy
Pathway
hsa04270  Vascular smooth muscle contraction
Gene
RNF213 [HSA:57674] [KO:K22754]
ACTA2 [HSA:59] [KO:K12313]
GUCY1A3 [HSA:2982] [KO:K12318]
Comment
The homozygous c.14576G>A variant in RNF213 could be a good DNA biomarker for predicting the severe type of Moyamoya Disease.
Other DBs
ICD-11: 8B22.B
ICD-10: I67.5
MeSH: D009072
OMIM: 252350 607151 614042 615750
Reference
  Authors
Komiyama M
  Title
Moyamoya Disease is a Progressive Occlusive Arteriopathy of the Primitive Internal Carotid Artery.
  Journal
Interv Neuroradiol 9:39-45 (2003)
DOI:10.1177/159101990300900105
Reference
  Authors
Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S
  Title
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
  Journal
J Hum Genet 56:34-40 (2011)
DOI:10.1038/jhg.2010.132
Reference
  Authors
Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Matsumoto N
  Title
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.
  Journal
Neurology 78:803-10 (2012)
DOI:10.1212/WNL.0b013e318249f71f
Reference
  Authors
Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, Buja LM, Milewicz DM
  Title
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
  Journal
Am J Hum Genet 84:617-27 (2009)
DOI:10.1016/j.ajhg.2009.04.007
Reference
  Authors
Herve D, Philippi A, Belbouab R, Zerah M, Chabrier S, Collardeau-Frachon S, Bergametti F, Essongue A, Berrou E, Krivosic V, Sainte-Rose C, Houdart E, Adam F, Billiemaz K, Lebret M, Roman S, Passemard S, Boulday G, Delaforge A, Guey S, Dray X, Chabriat H, Brouckaert P, Bryckaert M, Tournier-Lasserve E
  Title
Loss of alpha1beta1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.
  Journal
Am J Hum Genet 94:385-94 (2014)
DOI:10.1016/j.ajhg.2014.01.018
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