Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder that affects motor neurons, leading to progressive muscle weakness and wasting. It can manifest from infancy to adulthood, with symptoms including respiratory issues, scoliosis, and joint contractures. SMA is caused by mutations in the SMN1 gene, resulting in different types of the disease based on age of onset and severity. Types range from severe symptoms at birth (Type 0) to milder forms appearing in adulthood (Type IV). The disorder is characterized by symmetric muscle weakness, particularly in the trunk and upper limbs, with respiratory muscle involvement. SMA is linked to chromosome 5q13 and is an autosomal recessive condition. New treatments are improving outcomes, especially for Types I and II, changing the disease's natural course.
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.