Details of Disease | DrugMAP

General Information of Disease (ID: DIS8CFD7)

Disease Name	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Synonyms	ataxia-oculomotor apraxia 1; EOCA-HA; cerebellar ataxia, early-onset, with hypoalbuminemia; ataxia-telangiectasia-like syndrome; ataxia-oculomotor apraxia type 1; early-onset cerebellar ataxia with hypoalbuminemia; EAOH; early-onset ataxia with oculomotor apraxia and hypoalbuminemia; ataxia, adult-onset, with oculomotor apraxia; ataxia-oculomotor apraxia syndrome; oculomotor apraxia or related oculomotor disease caused by mutation in APTX; AOA1; ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; ataxia with oculomotor apraxia type 1; APTX oculomotor apraxia or related oculomotor disease
Definition	A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.\|Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency,
Disease Hierarchy	DIS98DFM: Ataxia-telangiectasia-like disorder DISN7YWO: DNA repair disease DIS8CFD7: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Disease Identifiers	MONDO ID MONDO_0008842 MESH ID C538013 UMLS CUI C1859598 OMIM ID 208920 MedGen ID 395301 Orphanet ID 1168 SNOMED CT ID 715366004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PNKP	TTHR3IE	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXN	DEXVHDB	Strong	Biomarker	[2]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SETX	OTG3JNOQ	Strong	Genetic Variation	[3]
APTX	OTPAS5G8	Definitive	Autosomal recessive	[4]
NRF1	OTOXWNV8	Definitive	Altered Expression	[5]
SDHA	OTOJ8QFF	Definitive	Altered Expression	[5]
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References

1	Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.Clin Genet. 2018 Jul;94(1):185-186. doi: 10.1111/cge.13216. Epub 2018 Mar 2.
2	A new MRI marker of ataxia with oculomotor apraxia.Eur J Radiol. 2019 Jan;110:187-192. doi: 10.1016/j.ejrad.2018.11.035. Epub 2018 Nov 29.
3	Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.Neurogenetics. 2010 Feb;11(1):91-100. doi: 10.1007/s10048-009-0206-0. Epub 2009 Jul 11.
4	The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet. 2001 Oct;29(2):189-93. doi: 10.1038/ng1001-189.
5	Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.Hum Mol Genet. 2015 Aug 15;24(16):4516-29. doi: 10.1093/hmg/ddv183. Epub 2015 May 14.