| H01396 | |
| H number | H01396 |
| 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 |
| Network | - |
| Gene | RNF213 [HSA:57674] [KO:K22754] ACTA2 [HSA:59] [KO:K12313] GUCY1A3 [HSA:2982] [KO:K12318] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| 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 | PMID:20591301 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 PMID:21048783 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 PMID:22377813 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 PMID:19409525 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 PMID:24581742 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 |