Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder involving degeneration of anterior horn cells in the spinal cord, resulting in symmetrical muscle weakness and atrophy. It is characterized by adult onset, slow disease progression, and the ability for patients to stand and walk. The disease typically manifests in the third decade of life and is caused by mutations in the SMN1 or SMN2 genes essential for motor neuron survival. Therapeutic strategies for SMA have been reviewed, focusing on clinical features and molecular pathogenesis.
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.