Details of Disease

General Information of Disease (ID: DISSCOVT)

Disease Name Hypomyelinating leukodystrophy 5
Synonyms
hypomyelination and congenital cataract: HCC; hypomyelination - congenital cataract; hypomyelination and congenital cataract; leukodystrophy, hypomyelinating, 5; hypomyelination-congenital cataract syndrome; leukodystrophy, hypomyelinating, type 5; FAM126A leukodystrophy; leukodystrophy caused by mutation in FAM126A; hypomyelinating leukodystrophy type 5; HLD5
Definition
Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISSCOVT: Hypomyelinating leukodystrophy 5
Disease Identifiers
MONDO ID
MONDO_0012514
MESH ID
C567166
UMLS CUI
C1864663
OMIM ID
610532
MedGen ID
501134
Orphanet ID
85163
SNOMED CT ID
702379005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HYCC1 OTO65AE3 Definitive Autosomal recessive [1]
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References

1 A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract. Eur J Hum Genet. 2008 Feb;16(2):261-4. doi: 10.1038/sj.ejhg.5201935. Epub 2007 Oct 10.