GSD15
MCID: GLY009
MIFTS: 28
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Glycogen Storage Disease Xv (GSD15)
Categories:
Blood diseases, Cardiovascular diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Glycogen Storage Disease Xv:
Characteristics:Orphanet epidemiological data:59
glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases Nephrological diseases Liver diseases Blood diseases Endocrine diseases Cardiovascular diseases Gastrointestinal diseases Muscle diseases
ICD10:
34
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UniProtKB/Swiss-Prot
:
75
Glycogen storage disease 15: A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation.
MalaCards based summary : Glycogen Storage Disease Xv, is also known as glycogen storage disease type xv, and has symptoms including muscle weakness An important gene associated with Glycogen Storage Disease Xv is GYG1 (Glycogenin 1), and among its related pathways/superpathways is Starch and sucrose metabolism. Affiliated tissues include skeletal muscle, heart and liver, and related phenotypes are decreased muscle mass and abdominal wall muscle weakness Disease Ontology : 12 A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has material basis in mutation in the GYG1 gene that encodes glycogenin-1.
Description from OMIM:
613507
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613507Human phenotypes related to Glycogen Storage Disease Xv:59 32 (show all 28)
UMLS symptoms related to Glycogen Storage Disease Xv:muscle weakness |
Interventional clinical trials:
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MalaCards organs/tissues related to Glycogen Storage Disease Xv:41
Skeletal Muscle,
Heart,
Liver
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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Xv:75
ClinVar genetic disease variations for Glycogen Storage Disease Xv:6 (show all 19)
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Search
GEO
for disease gene expression data for Glycogen Storage Disease Xv.
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Pathways related to Glycogen Storage Disease Xv according to KEGG:37
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