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Werdnig-Hoffmann disease
Summary
- Synonym
-
- HMN (Hereditary motor Neuropathy) Proximal type I
- SMA1
- Spinal muscular atrophy 1
- hereditary motor neuropathy proximal type I
- infantile muscular atrophy
- progressive muscular atrophy of infancy
- Definition
- A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.
- Super Class
- childhood spinal muscular atrophy
External Links
- Disease Ontology
- DOID:13137
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06865 | Beta-hexosaminidase subunit alpha | |
| P07741 | Adenine phosphoribosyltransferase | |
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein |
