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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75390 | Citrate synthase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001645 | Sudden cardiac death |
| HP:0008209 | Premature ovarian insufficiency |
| HP:0000938 | Osteopenia |
| HP:0003324 | Generalized muscle weakness |
| HP:0003593 | Infantile onset |
| HP:0001290 | Generalized hypotonia |
| HP:0011924 | Decreased activity of mitochondrial complex III |
| HP:0002093 | Respiratory insufficiency |
| HP:0003737 | Mitochondrial myopathy |
| HP:0001510 | Growth delay |
