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Spinal Muscular Atrophy, Type Iv (SMA4)
Alias:
Sma4
|
Spinal Muscular Atrophy, Adult Form
|
Spinal Muscular Atrophy 4
|
Adult Spinal Muscular Atrophy
|
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive
|
Spinal Muscular Atrophy Proximal Adult Autosomal Recessive
|
Proximal Spinal Muscular Atrophy Type 4
|
Spinal Muscular Atrophy Adult Form
|
Spinal Muscular Atrophy Type Iv
|
Myelopathic Muscular Atrophy
|
Spinal Muscular Atrophy-4
|
Sma Type Iv
|
Sma Type 4
|
Sma-Iv
|
Sma Iv
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
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.
Related ID:
MALACARDS: SPN398
|
OMIM: 271150
|
MESH: C563948
|
ICD11: 443229384
Basic Information
Inheritance
Age of Onset
Prevalence
Related Genes
Related Mouse Models
Reference
MALACARDS
AR
Autosomal recessive
Adult
--
21
69
17
SPN398
Medical Symptom
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.
Data Source: UniProt, PubMed
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