Results for "microphthalmia with cataract 2": 23 genes

Name

MCOPCT1 Gene

cataract, congenital, with microphthalmia

MITF Gene

microphthalmia-associated transcription factor

The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]

CPBHM Gene

Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

MAA Gene

microphthalmia or anophthalmia and associated anomalies

MCOP1 Gene

microphthalmia, autosomal recessive

MCOPCB1 Gene

Microphthalmia, colobomatous, 1

MCOPCB2 Gene

Microphthalmia, colobomatous, 2

CTRCT37 Gene

Cataract, congenital cerulean type, 5

CTRCT34 Gene

Cataract, autosomal recessive congenital 3

CTRCT35 Gene

cataract, congenital nuclear, autosomal recessive

CTAA1 Gene

cataract, anterior polar 1

CTAA2 Gene

cataract, anterior polar 2

CTPP5 Gene

Cataract, posterior polar, 5

CTRCT25 Gene

Cataract, central pouch-like, with sutural opacities

CTRCT27 Gene

Cataract, congenital, nuclear progressive

CTRCT28 Gene

Cataract 28

CTPL1 Gene

cataract, pulverulent (autosomal recessive, early-onset)

CCA1 Gene

cataract, congenital, cerulean type, 1

CCT Gene

cataract, congenital, total

CCV Gene

cataract, congenital, Volkmann type

CTRCT29 Gene

Cataract 29, coralliform

DFCTRPS Gene

Deafness, cataract, retinitis pigmentosa, and sperm abnormalities

CTPP Gene

Cataract, posterior polar