Details of Disease | DrugMAP

General Information of Disease (ID: DISX8TEG)

Disease Name	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Synonyms	spastic ataxia 8; SPAX8; spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Disease Hierarchy	DISVY1TT: Leukodystrophy DIS6VTRF: Autosomal recessive spastic ataxia DISX8TEG: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Disease Identifiers	MONDO ID MONDO_0033043 UMLS CUI C4479653 OMIM ID 617560 MedGen ID 1382553 Orphanet ID 527497 SNOMED CT ID 1217379007

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
NKX6-2	OT7FI94W	Strong	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.