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last update : 12-11-2014
Symbol HCC
Location 7p15.3
Name hypomyelination and cataract
Other name(s) leukodystrophy, hypomyelinating, 5
Corresponding gene FAM126A
Other symbol(s) HLD5
Main clinical features
  • congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency at the MRI, bilateral cataract at birth, at the end of the first year of life, development delayed, slowly progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs, mental retardation ranged from mild to moderate
  • Pelizaeus-Merzbacher-like disease
  • on MRI abnormalities consistent with diffuse cerebral hypomyelination, whereas the cortex and deep gray matter structures were preserved
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
  • L53P mutant aggregates in cells, accumulating primarily in the ER, in contrast to the wild type FAM126A, which distributes throughout the cytoplasm (PMID: 24417797))