Details of Disease

General Information of Disease (ID: DIS6ASFI)

Disease Name Tremor-ataxia-central hypomyelination syndrome
Synonyms TACH syndrome
Disease Hierarchy
DIS1L24B: Eye degenerative disorder
DIS6JNI3: Hereditary ataxia
DISPN7D2: Inherited neurodegenerative disorder
DIS6ASFI: Tremor-ataxia-central hypomyelination syndrome
Disease Identifiers
MONDO ID
MONDO_0018656
UMLS CUI
C5680067
MedGen ID
1842823
Orphanet ID
447896

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
POLR3A OT5MSK10 Supportive Autosomal recessive [1]
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References

1 Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics. 2010 Oct;11(4):457-64. doi: 10.1007/s10048-010-0251-8. Epub 2010 Jul 17.