loading...| Preferred Name |
SPINAL MUSCULAR ATROPHY, TYPE I |
| Synonyms |
SMA I |
| ID |
http://purl.bioontology.org/ontology/OMIM/253300 |
| altLabel |
SMA I MUSCULAR ATROPHY, INFANTILE SMA, INFANTILE ACUTE FORM SMA1 WERDNIG-HOFFMANN DISEASE |
| cui |
C0043116 |
| Gene Locus |
5q12.2-q13.3 |
| Gene Symbol |
SMA3 SMA2 SMA4 SMA1 SMN1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU011080 http://purl.bioontology.org/ontology/OMIM/MTHU003217 http://purl.bioontology.org/ontology/OMIM/MTHU003662 http://purl.bioontology.org/ontology/OMIM/MTHU037032 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU011078 http://purl.bioontology.org/ontology/OMIM/MTHU011076 http://purl.bioontology.org/ontology/OMIM/MTHU023159 http://purl.bioontology.org/ontology/OMIM/MTHU011081 http://purl.bioontology.org/ontology/OMIM/MTHU000317 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU011077 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
253300 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SPINAL MUSCULAR ATROPHY, TYPE I |
| Scope Statement |
Death secondary to respiratory infection or failure before age 2 years [MISCELLANEOUS] Onset birth to 6 months [MISCELLANEOUS] Caused by mutation in the survival of motor neuron 1 gene (SMN1, 600354.0001) [MOLECULAR BASIS] Incidence 1 in 6,000 to 1 in 8,000 live births [MISCELLANEOUS] Exon 7 of SMN1 is absent in 95.6% of SMA1 patients [MISCELLANEOUS] Approximately 45% of SMA1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (NAIP, 600355), which may play a role in modifying disease severity [MISCELLANEOUS] |
| tui |
T047 |