SMAX3
MCID: SPN188
MIFTS: 43
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Spinal Muscular Atrophy, Distal, X-Linked 3 (SMAX3)
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, X-Linked 3:
Characteristics:Orphanet epidemiological data:58
x-linked distal spinal muscular atrophy type 3
Inheritance: X-linked recessive; Age of onset: Childhood; OMIM:56
Miscellaneous:
onset in first decade slow disease progression adult onset may also occur affected individuals remain ambulatory in old age
Inheritance:
x-linked recessive HPO:31
spinal muscular atrophy, distal, x-linked 3:
Onset and clinical course juvenile onset slow progression Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Distal spinal muscular atrophy, X-linked, 3: A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.
MalaCards based summary : Spinal Muscular Atrophy, Distal, X-Linked 3, also known as smax3, is related to charcot-marie-tooth disease, x-linked dominant, 1 and menkes disease. An important gene associated with Spinal Muscular Atrophy, Distal, X-Linked 3 is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways/superpathways are Defensins and Copper homeostasis. Affiliated tissues include spinal cord, and related phenotypes are distal sensory impairment and pes cavus Disease Ontology : 12 A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has material basis in homozygous or hemizygous mutation in ATP7A on Xq21.1.
More information from OMIM:
300489
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Human phenotypes related to Spinal Muscular Atrophy, Distal, X-Linked 3:31 (show all 9)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:300489MGI Mouse Phenotypes related to Spinal Muscular Atrophy, Distal, X-Linked 3:45
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Cochrane evidence based reviews: spinal muscular atrophy, distal, x-linked 3 |
MalaCards organs/tissues related to Spinal Muscular Atrophy, Distal, X-Linked 3:40
Spinal Cord
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Articles related to Spinal Muscular Atrophy, Distal, X-Linked 3:
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ClinVar genetic disease variations for Spinal Muscular Atrophy, Distal, X-Linked 3:6 (show top 50) (show all 187)
UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Distal, X-Linked 3:73
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Search
GEO
for disease gene expression data for Spinal Muscular Atrophy, Distal, X-Linked 3.
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Cellular components related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:
Biological processes related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:
Molecular functions related to Spinal Muscular Atrophy, Distal, X-Linked 3 according to GeneCards Suite gene sharing:
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