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 / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
mitochondrial DNA depletion syndrome 14
Summary
- Definition
- A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29.
- Super Class
- mitochondrial DNA depletion syndrome
External Links
- Disease Ontology
- DOID:0080336
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60313 | Dynamin-like GTPase OPA1, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002151 | Increased circulating lactate concentration |
| HP:0000546 | Retinal degeneration |
| HP:0011410 | Caesarian section |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0011923 | Decreased activity of mitochondrial complex I |
| HP:0001612 | Weak cry |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0000407 | Sensorineural hearing impairment |
