Details of Disease

General Information of Disease (ID: DIS774EP)

Disease Name Hypomyelinating leukodystrophy 6
Synonyms
leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum; leukodystrophy, hypomyelinating, 6; hypomyelination with atrophy of basal ganglia and cerebellum; H-ABC; hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum; leukodystrophy, hypomyelinating, type 6; hypomyelinating leukodystrophy type 6; HLD6; HABC
Definition
A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISKOOXO: TUBB4A-related neurologic disorder
DIS774EP: Hypomyelinating leukodystrophy 6
Disease Identifiers
MONDO ID
MONDO_0012905
MESH ID
C567314
UMLS CUI
C2676244
OMIM ID
612438
MedGen ID
436642
Orphanet ID
139441
SNOMED CT ID
724283004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UFM1 OTC7QMYA Supportive Autosomal dominant [1]
TUBB4A OT6SQEO5 Definitive Autosomal dominant [2]
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References

1 UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology. 2017 Oct 24;89(17):1821-1828. doi: 10.1212/WNL.0000000000004578. Epub 2017 Sep 20.
2 A de novo mutation in the -tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet. 2013 May 2;92(5):767-73. doi: 10.1016/j.ajhg.2013.03.018. Epub 2013 Apr 11.