The way property values are displayed:
The way concept relations are shown:
The way concept relations are shown:
Glycogen Storage Disease Type IV
Hierarchy: | ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type IV 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Glycogen Storage Disease Type IV 8 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Broader terms: | |
Annotation: | do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis
X |
History note: | Glucosyltransferases/metabolism (1966-1974) | Glycogenosis (1966-1974) | Liver Diseases (1966-1974)X |
historyNote*: | 91(89); was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 4 see under GLYCOGENOSIS 1975-88
X |
onlineNote*: | use GLYCOGEN STORAGE DISEASE TYPE IV to search GLYCOGENOSIS 4 1975-88
X |
publicMeSHNote*: | 91; was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 4 see under GLYCOGENOSIS 1975-88
X |
Scope note: | An autosomal recessive metabolic disorder due to a deficiency in expression of GLYCOGEN BRANCHING ENZYME 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1974-12-12X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | NLMX |
Type: | |
Coordinate terms: | |
URI: | |
Labels and equivalent concepts: | Glykogenoosi IV (fi) XType IV Glycogenosis (en, replaced) Glycogenosis 4 (en, replaced) Deficiency, Brancher (en, replaced) Brancher Deficiency (en, replaced) Amylopectinosis (en, replaced) Andersen's Disease (en, replaced) Andersen Disease (en, replaced) Enfermedad del Almacenamiento de Glucógeno Tipo IV (es) γλυκογονίαση 4 (el) Glykogenspeicherkrankheit Typ IV (de) glykogen - nemoc z ukládání typ IV (cs) Amilopectinosis (es, replaced) Deficiencia de la Enzima Ramificante (es, replaced) Glucogenosis 4 (es, replaced) Enfermedad de Andersen (es, replaced) Brancher-Mangel (de, replaced) Andersen-Krankheit (de, replaced) Glykogenose IV (de, replaced) Amylopektinose (de, replaced) |
Share: |
Loading results...