Moyamoya Disease 3

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

ACTA2, RNF213, BRCC3, ELN, HLA-DRB1, HLA-DQB1, SAMHD1, HTRA1, GLA, HLA-B, SLC2A10, MYMY1, ATP7A, ABCC6, PCNT, NF1, JAG1, MTHFR, DOCK9, FBXO25, RPTOR, LRP1, CARD14, PLOD1, NLN, SMPDL3B, SBF2, CFDP1, RNF213-AS1, TSC22D2, MYRF, TCN2, MAGI2, RAPGEF4, JAZF1, EMD, GCY, VEGFA, TGFB1, MMD, ACTB, DSC3, GUCY1A1, ASL, CAV1, MMP3, MMP9, TIMP2, CEBPZ, PDGFRB, IL10, ALDH1A2, KDR, ANGPT2, APOE, CASP3, MMS, CBL, MIRLET7C, CRLF1, CD163, CMC4, USP15, CCER2, FLVCR1, MRVI1, DYM, CXCR6, OGFR, ECD, MTFMT, OBSCN, DYNC2H1, SGCE, SETD5, GEN1, PTPN11, APLN, SHOC2, CXCL8, IL1B, HP, HLA-A, HGF, CFH, GJA1, FLG, EPO, DFFA, CSF2, CRABP1, CCR5, CLU, CD40, BRCA1, BMPR2, LAMC2, RPSA, MMP2, SIX3, TIMP4, TIMP1, THBD, TGIF1, STAT3, SPTAN1, SLC25A1, CXCL5, MYLK, CCL5, CCL2, PKD1, SERPINA1, PENK, CNOT3, NOS3, MIR6722

Drugs

Theranost 68 Ga RGD

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Description

In moyamoya disease, stenosis of the intracranial portion of the internal carotid artery leads to secondary establishment of intracranial compensatory anastomoses at different levels (leptomeninges, basal ganglia, and transdural) (summary by Sakurai et al., 2004).

For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).

Mapping

Sakurai et al. (2004) searched for loci linked to moyamoya disease in 12 Japanese families using 428 microsatellite markers and found significant evidence for linkage to 8q23 (maximum lod score of 3.6 at marker D8S546) and suggestive evidence for linkage to 12p12 (maximum lod score of 2.3 at marker D12S1690).