Glycogen Storage Disease Iv (GSD4) malady
Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases categories
22Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 64Wikipedia, 20GeneReviews, 32MalaCards
See all sources
NIH Rare Diseases:42 Glycogen storage disease type 4 (gsd 4) isÂ part of a group ofÂ disorders which lead to abnormal accumulation of glycogen (a storage form of glucose)Â in various parts of the body. symptoms of gsd 4Â usually begin in infancy and typically includeÂ failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. in rare cases individuals may have a form withÂ non-progressive liver disease, or a severe neuromuscular form. gsd 4 is caused byÂ mutations in the gbe1 gene and isÂ inheritedÂ in anÂ autosomal recessive manner. treatment typically focuses on the specific symptoms that are present in each individual. last updated: 12/23/2012
MalaCards based summary: Glycogen Storage Disease Iv, also known as glycogen storage disease type iv, is related to glycogen storage disease and andersen-tawil syndrome, and has symptoms including muscular hypotonia, hepatic failure and ascites. An important gene associated with Glycogen Storage Disease Iv is GBE1 (glucan (1,4-alpha-), branching enzyme 1). Affiliated tissues include liver, spleen and heart, and related mouse phenotypes are liver/biliary system and muscle.
Genetics Home Reference:22 Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.
OMIM:46 Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis,... (170390) more...
Wikipedia:64 Glycogen storage disease type IV is a rare hereditary metabolic disorder. more...
Descriptions from OMIM:46 232500,263570
GeneReviews summary for gsd4
Glycogen Storage Disease Iv, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Liver diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases
Characteristics (Orphanet epidemiological data):48
glycogen storage disease type 4:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age
glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form:
glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form:
glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form:
Symptoms by clinical synopsis from OMIM:170390
Clinical features from OMIM:232500,263570,170390
Symptoms:48 (show all 9)
HPO human phenotypes related to Glycogen Storage Disease Iv:(show all 68)
MalaCards organs/tissues related to Glycogen Storage Disease Iv:32
Liver, Spleen, Heart, Kidney
Articles related to Glycogen Storage Disease Iv:
UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Iv:63 (show all 17)
Clinvar genetic disease variations for Glycogen Storage Disease Iv:7 (show all 27)
Search GEO for disease gene expression data for Glycogen Storage Disease Iv.
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet