LGMD1A
MCID: ATS295
MIFTS: 40
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Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a (LGMD1A)
Categories:
Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a:
Characteristics:Orphanet epidemiological data:59
autosomal dominant limb-girdle muscular dystrophy type 1a
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: normal life expectancy; Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
33
34
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 266Disease definitionAutosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.Visit the Orphanet disease page for more resources.
MalaCards based summary : Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a, also known as lgmd1a, is related to myopathy, myofibrillar, 3 and myopathy. An important gene associated with Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a is MYOT (Myotilin), and among its related pathways/superpathways is Focal Adhesion. Affiliated tissues include skeletal muscle and myeloid, and related phenotypes are dysphagia and elevated serum creatine phosphokinase Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the gene encoding myotilin (MYOT1) on chromosome 5q31. |
Human phenotypes related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a:59 32 (show all 25)
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MalaCards organs/tissues related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a:41
Skeletal Muscle,
Myeloid
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Articles related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a:
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ClinVar genetic disease variations for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a:6
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Search
GEO
for disease gene expression data for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a.
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Cellular components related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a according to GeneCards Suite gene sharing:
Biological processes related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a according to GeneCards Suite gene sharing:
Molecular functions related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a according to GeneCards Suite gene sharing:
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