Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012378 | Fatigue |
| HP:0001695 | Cardiac arrest |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0001252 | Hypotonia |
| HP:0003388 | Easy fatigability |
| HP:0000519 | Developmental cataract |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0003623 | Neonatal onset |
| HP:0001324 | Muscle weakness |
