Optic Atrophy 4

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

OPA1, DNM1L, OPA3, MFN2, MFN1, DENR, DAPK2, OMA1, FIS1, UTRN, CRMP1, SIRT3, IMMT, MFF, MED12, YME1L1, SSBP1, PRKAB1, NFE2L2, PPARGC1A, PPARG, PRKAA1, KIF1B, OPA5, PRKAA2, GSTM1, FXN, WFS1, SLC14A1, LEP, TOMM70, TOMM40, SQSTM1, YAP1, OPTN, COX5A, MRPS30, MAD2L1BP, KEAP1, PAPOLA, ACO2, TPPP, PACC1, PGAM5, CCDC50, MCU, MAP1LC3B, MUL1, PINK1, TFB2M, OPA4, SEMA6A, ADCK1, MTPAP, TREH, APTX, TMED9, ASAP1, CD274, FGF21, GABARAPL1, TUSC2, CDK5R1, PDAP1, PHB2, ASAP2, TP53BP1, BECN1, CNR2, GABPA, ERG, EPHB2, ELAVL1, DGKG, CYP1B1, CYC1, CTRL, CPOX, COX8A, CDKN1A, AKAP1, CDH1, CAV1, CAST, CAPN1, BNIP3L, BNIP3, CEACAM1, BGLAP, BCL2, AFM, GSTT1, H2AX, HRES1, HES1, VEGFA, PHLDA2, ACP3, CLDN5, SPG7, SOD1, SLC5A1, SDHA, MAPK1, PRKCA, PLXNA2, PLIN1, PKLR, REG3A, NRF1, NOS3, NFE2L1, NDUFV2, MYC, LCN2, LAMP1, OPA8

Drugs

Alpha-tocotrienol quinone ( VINCERINONE )

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For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).

Mapping

In a family of German descent living in western Maryland, Kivlin et al. (1983, 1984) found possible linkage of autosomal dominant optic atrophy to Kidd blood group (111000) (maximum lod score of 2.0 at theta 0.18), then thought to be on chromosome 2, but later mapped to chromosome 18q. By genetic linkage studies in the same family, Kerrison et al. (1999) mapped the locus to 18q12.2-q12.3.

Delettre et al. (2000) suggested that a mitochondrial protein may be involved in OPA4 inasmuch as OPA1 and Leber hereditary optic neuropathy (LHON; 535000) are caused by defects in mitochondrial proteins.