torsion dystonia 2

Summary
Definition
A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35.
Super Class
autosomal recessive disease dystonia
External Links
Disease Ontology
DOID:0090038
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7915 ALDH5A1 aldehyde dehydrogenase 5 family member A1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P51649 Succinate-semialdehyde dehydrogenase, mitochondrial

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024