Details of Disease | DrugMAP

General Information of Disease (ID: DISIRQ3E)

Disease Name	Ataxia - oculomotor apraxia type 4
Synonyms	ataxia-oculomotor apraxia-4; ataxia-oculomotor apraxia 4; AOA4; oculomotor apraxia or related oculomotor disease caused by mutation in PNKP; ataxia - oculomotor apraxia type 4; PNKP oculomotor apraxia or related oculomotor disease
Definition	Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.
Disease Hierarchy	DISEIJV9: Inherited dystonia DISSYRHC: Hereditary peripheral neuropathy DISGMOMI: Autosomal recessive syndromic cerebellar ataxia DISIRQ3E: Ataxia - oculomotor apraxia type 4
Disease Identifiers	MONDO ID MONDO_0014557 UMLS CUI C4225397 OMIM ID 616267 MedGen ID 902323 Orphanet ID 459033

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PNKP	TTHR3IE	Limited	Genetic Variation	[1]
PNKP	TTHR3IE	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PNKP	OTXJNXVW	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

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	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.