mitochondrial DNA depletion syndrome 12b

Summary
Definition
A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.
Super Class
autosomal recessive disease mitochondrial DNA depletion syndrome
External Links
Disease Ontology
DOID:0080335
Mondo Disease Ontology
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1431 CS citrate synthase
55750 AGK acylglycerol kinase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O75390 Citrate synthase, mitochondrial
The Human Phenotype Ontology
Displaying all 10 entries
HPO ID HPO Term
HP:0000512 Abnormal electroretinogram
HP:0000501 Glaucoma
HP:0001131 Corneal dystrophy
HP:0000486 Strabismus
HP:0003128 Lactic acidosis
HP:0001639 Hypertrophic cardiomyopathy
HP:0003198 Myopathy
HP:0000639 Nystagmus
HP:0000518 Cataract
HP:0000545 Myopia
Displaying all 2 entries
Gene ID Gene Symbol Description
26007 TKFC triokinase and FMN cyclase
55750 AGK acylglycerol kinase

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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