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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
spinal muscular atrophy with progressive myoclonic epilepsy
Summary
- Synonym
-
- Jankovic-Rivera syndrome
- SMA-PME
- SMAPME
- hereditary myoclonus-progressive distal muscular atrophy syndrome
- Definition
- A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22.
- Super Class
- autosomal recessive disease spinal muscular atrophy
External Links
- Disease Ontology
- DOID:0111527
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13510 | Acid ceramidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0002515 | Waddling gait |
| HP:0200036 | Skin nodule |
| HP:0002359 | Frequent falls |
| HP:0001433 | Hepatosplenomegaly |
| HP:0007340 | Lower limb muscle weakness |
| HP:0001268 | Mental deterioration |
| HP:0002650 | Scoliosis |
| HP:0002100 | Recurrent aspiration pneumonia |
| HP:0003202 | Skeletal muscle atrophy |
