Sengers syndrome

Summary
Synonym
  • mitochondrial DNA depletion syndrome 10
  • mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)
Definition
A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34.
Super Class
autosomal recessive disease mitochondrial DNA depletion syndrome
External Links
Disease Ontology
DOID:0080132
Mondo Disease Ontology
MeSH
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 entries 1 - 10 of 39 in total
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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Last updated: August 19, 2024