Details of Disease | DrugMAP

General Information of Disease (ID: DISACNLZ)

Disease Name	Spinocerebellar ataxia type 34
Synonyms	spinocerebellar ataxia 34; Giroux Barbeau syndrome; erythrokeratodermia - ataxia; SCA34; spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with Ataxia; spinocerebellar ataxia type 34; erythrokeratodermia with ataxia
Definition	A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.
Disease Hierarchy	DIS947AF: Autosomal dominant cerebellar ataxia type I DISQGG08: Erythrokeratoderma DISSCALK: Hereditary skin disorder DISACNLZ: Spinocerebellar ataxia type 34
Disease Identifiers	MONDO ID MONDO_0007574 MESH ID C535738 UMLS CUI C1851481 OMIM ID 133190 MedGen ID 338703 Orphanet ID 1955 SNOMED CT ID 719255000

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
ELOVL4	OT2M9W26	Strong	Autosomal dominant	[1]
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References

1	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.