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GENATLAS PHENOTYPE
last update : 26-01-2017
Symbol COMMAD
Location 3p14.1
Name coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Corresponding gene MITF
Main clinical features
  • colobomatous microphthalmia and microcornea with pannus, dense bilateral cataracts, translucent irides, profound congenital sensorineural hearing loss, and a lack of visible pigment in the hair, skin, and eyes
  • associated to facial dysmorphisms including frontal bossing, shallow orbits, preauricular pits, and posteriorly rotated ears; skeletal features included a prominent frontal bone, diffuse expansion of the anterior ends of the ribs
  • Genetic determination autosomal recessive
    Function/system disorder eye
    osteo-articular
    neurology
    Type disease
    Remark(s)
  • mutation alter nuclear migration and DNA binding of homo- and heterodimers and thus allow the mutant alleles to act as dominant negative (PMID: 27889061))