Details of Disease | DrugMAP

General Information of Disease (ID: DISCQ6YL)

Disease Name	Autosomal recessive ataxia due to ubiquinone deficiency
Synonyms	COQ10D4; spinocerebellar ataxia, autosomal recessive 9; autosomal recessive spinocerebellar ataxia 9; coenzyme Q10 deficiency, primary, 4; SCAR9; autosomal recessive cerebellar ataxia type 2; autosomal recessive spinocerebellar ataxia type 9; coenzyme Q10 deficiency, primary, type 4; ARCA2; autosomal recessive ataxia due to coenzyme Q10 deficiency
Definition	This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.
Disease Hierarchy	DIS1HGDF: Coenzyme Q10 deficiency DISWBOUC: Autosomal recessive cerebellar ataxia DISCQ6YL: Autosomal recessive ataxia due to ubiquinone deficiency
Disease Identifiers	MONDO ID MONDO_0012784 MESH ID C567436 UMLS CUI C2677589 OMIM ID 612016 MedGen ID 436985 Orphanet ID 139485 SNOMED CT ID 725394006

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
COQ8A	OT1ETSA2	Supportive	Autosomal recessive	[1]
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References

1	Hereditary Ataxia Overview. 1998 Oct 28 [updated 2023 Nov 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.