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
combined malonic and methylmalonic acidemia
Summary
- Synonym
-
- CMAMMA
- combined malonic and methylmalonic aciduria
- Definition
- An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.
- Super Class
- autosomal recessive disease organic acidemia
External Links
- Disease Ontology
- DOID:0111263
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002076 | Migraine |
| HP:0000252 | Microcephaly |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0001263 | Global developmental delay |
| HP:0008936 | Axial hypotonia |
| HP:0001943 | Hypoglycemia |
| HP:0012120 | Methylmalonic aciduria |
| HP:0001508 | Failure to thrive |
| HP:0001332 | Dystonia |
| HP:0002912 | Methylmalonic acidemia |
