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Experimental Factor Ontology
| Preferred Name | spinal muscular atrophy | |
| Synonyms |
spinal muscular atrophy |
|
| Definitions |
A motor neuron disease that affect the muscles, and characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with spinal muscular atrophy (SMA) experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0008525 |
|
| database_cross_reference |
NANDO:2100231 ICD10:G12.9 NCIT:C85075 MEDGEN:7755 MESH:D009134 NANDO:1200003 MeSH:D009134 UMLS:C0026847 MedDRA:10041583 MedDRA:10041582 MedDRA:10080264 ICD9:335.10 ICD9:335.19 icd11.foundation:71074342 NANDO:2200853 SNOMEDCT:5262007 MONDO:0001516 SCTID:5262007 NCIt:C85075 DOID:12377 GARD:7674 ICD9:335.1
|
|
| definition |
A motor neuron disease that affect the muscles, and characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with spinal muscular atrophy (SMA) experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.
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| definition_citation | ||
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0026847 http://purl.obolibrary.org/obo/DOID_12377 http://identifiers.org/snomedct/5262007 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/71074342 http://purl.obolibrary.org/obo/NCIT_C85075 http://identifiers.org/mesh/D009134 |
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| has_exact_synonym |
spinal muscular atrophy
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|
| id |
EFO:0008525
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
| label |
spinal muscular atrophy
|
|
| notation |
EFO:0008525
|
|
| preferred label |
spinal muscular atrophy
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|
| prefLabel |
spinal muscular atrophy
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|
| see also |
https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy |
|
| term editor |
Laura Huerta
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| subClassOf | ||
| excluded_subClassOf |
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