Moyamoya Disease 2; Mymy2

Description

Moyamoya disease is a progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage (summary by Kamada et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Moyamoya Disease 2; Mymy2

  • Headache
  • Mental deterioration
  • Stroke
  • Hemiparesis
  • Ischemic stroke
  • Involuntary movements
  • Abnormality of the vasculature
  • Transient ischemic attack

Incidence and onset information

Not enough data available about incidence and published cases.


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Moyamoya Disease 2; Mymy2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Moyamoya disease (sequence analysis of RNF213 gene).

By CGC Genetics in Portugal.

RNF213
Specificity
100 %
Genes
100 %
Moyamoya disease type 2.

By Centogene AG - the Rare Disease Company in Germany.

RNF213
Specificity
100 %
Genes
100 %
RNF213.

By Fulgent Genetics Fulgent Genetics in United States.

RNF213
Specificity
100 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Moyamoya Disease Type 2 , Sequencing RNF213 Gene.

By Reference Laboratory Genetics in Spain.

RNF213
Specificity
100 %
Genes
100 %
Moyamoya Disease , Panel Massive Sequencing (NGS) ACTA2,RNF213 Genes.

By Reference Laboratory Genetics in Spain.

ACTA2, RNF213
Specificity
50 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %


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