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MCID: ATS211
MIFTS: 21
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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Categories:
Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q:
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Muscle diseases Neuronal diseases
ICD10:
33
External Ids:
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Disease Ontology
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12
An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the PLEC1 gene.
MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q, also known as autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency, is related to muscular dystrophy, limb-girdle, autosomal recessive 17 and autosomal recessive limb-girdle muscular dystrophy type 2w. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q is HNRNPDL (Heterogeneous Nuclear Ribonucleoprotein D Like). |
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Interventional clinical trials:
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Genes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q.
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Cellular components related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q according to GeneCards Suite gene sharing:
Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q according to GeneCards Suite gene sharing:
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