Glycogen Storage Disease Ic malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases, Endocrine diseases
Aliases & Descriptions for Glycogen Storage Disease Ic:
glycogen storage disease ic:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Liver diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases, Endocrine diseases
UniProtKB/Swiss-Prot:68 Glycogen storage disease 1C: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.
MalaCards based summary: Glycogen Storage Disease Ic, is also known as glycogen storage disease 1d, and has symptoms including renal insufficiency, proteinuria and focal segmental glomerulosclerosis. An important gene associated with Glycogen Storage Disease Ic is SLC37A4 (Solute Carrier Family 37 Member 4). Affiliated tissues include kidney.
Description from OMIM:50 232240
HPO human phenotypes related to Glycogen Storage Disease Ic:(show all 20)
MalaCards organs/tissues related to Glycogen Storage Disease Ic:34
UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ic:68
Clinvar genetic disease variations for Glycogen Storage Disease Ic:5
Search GEO for disease gene expression data for Glycogen Storage Disease Ic.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet