Glycogen Storage Disease Xii malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases, Blood diseases, Neuronal diseases, Liver diseases, Cardiovascular diseases, Muscle diseases, Nephrological diseases, Endocrine diseases
Aliases & Descriptions for Glycogen Storage Disease Xii:
Orphanet epidemiological data:52
glycogen storage disease type 12:
Inheritance: Autosomal recessive; Age of onset: Neonatal
glycogen storage disease xii:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Blood diseases, Neuronal diseases, Liver diseases, Cardiovascular diseases, Muscle diseases, Nephrological diseases, Endocrine diseases
UniProtKB/Swiss-Prot:68 Glycogen storage disease 12: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis.
MalaCards based summary: Glycogen Storage Disease Xii, also known as aldolase a deficiency, is related to hemolytic anemia, and has symptoms including epicanthus, short neck and ptosis. An important gene associated with Glycogen Storage Disease Xii is ALDOA (Aldolase, Fructose-Bisphosphate A).
OMIM:50 Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al.,... (611881) more...
Diseases in the Glycogen Storage Disease family:
Diseases related to Glycogen Storage Disease Xii via text searches within MalaCards or GeneCards Suite gene sharing:
HPO human phenotypes related to Glycogen Storage Disease Xii:(show all 15)
UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Xii:68
Clinvar genetic disease variations for Glycogen Storage Disease Xii:5
Copy number variations for Glycogen Storage Disease Xii from CNVD:6
Search GEO for disease gene expression data for Glycogen Storage Disease Xii.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet