MMD3
MCID: MYS014
MIFTS: 41
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Miyoshi Muscular Dystrophy 3 (MMD3)
Categories:
Blood diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Miyoshi Muscular Dystrophy 3:
Characteristics:Orphanet epidemiological data:58
distal anoctaminopathy
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
variable severity onset age 20 to 51 years independent ambulation is maintained female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase limb-girdle muscular dystrophy type 2l (lgmd2l, ) is an allelic disorder HPO:31
miyoshi muscular dystrophy 3:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity adult onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases Gastrointestinal diseases Blood diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Miyoshi muscular dystrophy 3: A late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric.
MalaCards based summary : Miyoshi Muscular Dystrophy 3, also known as mmd3, is related to limb-girdle muscular dystrophy and muscular dystrophy, limb-girdle, autosomal recessive 2, and has symptoms including calf muscle weakness An important gene associated with Miyoshi Muscular Dystrophy 3 is ANO5 (Anoctamin 5), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Affiliated tissues include skeletal muscle, and related phenotypes are distal lower limb muscle weakness and waddling gait Disease Ontology : 12 A Miyoshi muscular dystrophy that has material basis in mutation in the ANO5 gene on chromosome 11p14. |
Human phenotypes related to Miyoshi Muscular Dystrophy 3:58 31 (show all 20)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:613319UMLS symptoms related to Miyoshi Muscular Dystrophy 3:calf muscle weakness |
Interventional clinical trials:
Cochrane evidence based reviews: miyoshi muscular dystrophy 3 |
MalaCards organs/tissues related to Miyoshi Muscular Dystrophy 3:40
Skeletal Muscle
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Articles related to Miyoshi Muscular Dystrophy 3:(show all 18)
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ClinVar genetic disease variations for Miyoshi Muscular Dystrophy 3:6 (show all 13)
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Search
GEO
for disease gene expression data for Miyoshi Muscular Dystrophy 3.
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Pathways related to Miyoshi Muscular Dystrophy 3 according to GeneCards Suite gene sharing:
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Cellular components related to Miyoshi Muscular Dystrophy 3 according to GeneCards Suite gene sharing:
Biological processes related to Miyoshi Muscular Dystrophy 3 according to GeneCards Suite gene sharing:(show all 16)
Molecular functions related to Miyoshi Muscular Dystrophy 3 according to GeneCards Suite gene sharing:
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