Details for disease: Volkmann cataract


Retinal dystrophy and iris coloboma with congenital cataract (RDICC) is an autosomal dominant condition of retinal dystrophy and bilateral coloboma, present in varying degrees. A mutation in microRNA-204 (miR-204) has been identified in all affected individuals. It has been demonstrated that miR-204 is necessary for normal photoreceptor function.


Title
Volkmann cataract
KEGG ID
H02290/H01202/H02292/H00692/H01114/H01012/H02009/H02292    (more details)
OMIM ID
616722/116200/616108/309000/120200/612109/230200/616108
DisGeNet ID
C0009691    (more details)
Involved Genes
GALK1 / PAX6 / GJA8 / CRYGC / CRYBB2 / CRYGD / HSF4 / EPHA2 / CRYAA / CRYBA1 / PITX3 / BFSP2 / GCNT2 / GJA3 / MIP / CRYAB / CRYBB1 / FYCO1 / LIM2 / CRYGS / MAF / CRYBB3 / CRYBA4 / VIM / CHMP4B / BFSP1 / FOXE3 / TDRD7 / AGK / CRYGB / NHS / WFS1 / CRYBA2 / UNC45B / LSS / SIPA1L3 / LEMD2 / SLC16A12 / DNMBP / PANK4 / COL4A1 / PRX / RDH11 / SALL2 / YAP1 / HMX1 /

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