Details of Disease | DrugMAP

General Information of Disease (ID: DISWVOY7)

Disease Name	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Synonyms	spinocerebellar ataxia infantile with sensory neuropathy; spinocerebellar ataxia, infantile-onset; mitochondrial DNA depletion syndrome 7; spinocerebellar ataxia, infantile, with sensory neuropathy; spinocerebellar ataxia 8 (formerly); ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis; ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis; spinocerebellar ataxia 8, formerly; SCA8 (formerly); ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis; MTDPS7; spinocerebellar ataxia 8; IOSCA; Ohaha syndrome; autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK; ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome; OHAHA syndrome; infantile onset spinocerebellar ataxia; TWNK autosomal recessive degenerative and progressive cerebellar ataxia; mitochondrial DNA depletion syndrome type 7; mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Definition	Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
Disease Hierarchy	DISY8J7U: Autosomal recessive degenerative and progressive cerebellar ataxia DISXOJLH: Mitochondrial DNA depletion syndrome, hepatocerebral form DISWVOY7: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Disease Identifiers	MONDO ID MONDO_0010060 MESH ID C535523 UMLS CUI C1849096 OMIM ID 271245 MedGen ID 338613 Orphanet ID 1186 SNOMED CT ID 724227000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TWNK	OTUD091O	Strong	Autosomal recessive	[1]
SPTBN2	OTDMJ75N	moderate	Genetic Variation	[2]
CHMP1B	OTP715L8	Strong	Genetic Variation	[3]
SLF2	OTP8V0HC	Strong	Genetic Variation	[4]
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References

1	Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet. 2005 Oct 15;14(20):2981-90. doi: 10.1093/hmg/ddi328. Epub 2005 Aug 31.
2	Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report.Brain Dev. 2019 Aug;41(7):630-633. doi: 10.1016/j.braindev.2019.03.002. Epub 2019 Mar 18.
3	Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.Neurogenetics. 2014 Aug;15(3):171-82. doi: 10.1007/s10048-014-0405-1. Epub 2014 May 10.
4	cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia.Gene. 2002 Oct 16;299(1-2):111-5. doi: 10.1016/s0378-1119(02)01019-3.