Glycogen storage disease ia

Preferred Label : Glycogen storage disease ia;

Symbol : GSD1A;

CISMeF acronym : GSD1A; GSD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glycogen storage disease I; Von gierke disease; Gsd ia; Hepatorenal form of glycogen storage disease; Hepatorenal glycogenosis; Glucose-6-phosphatase deficiency; GSD1;

Description : Glycogen storage disease type I (GSD1a), also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glucose-6-phosphatase, catalytic gene (G6PC, 613742.0001);

Laboratory abnormalities : Glucose-6-phosphate deficiency; Hyperlipidemia; Hyperuricemia; Lactic acidosis; Hypoglycemia; Proteinuria; Liver transaminases normal to slightly increased;

Prefixed ID : #232200;

Details

Origin ID

232200;

UMLS CUI

C2919796;

Automatic exact mappings (from CISMeF team)
- glucose-6-phosphatase catalytic subunit 1 [ORDO Gene]
- glucose-6-phosphatase catalytic subunit 1 [HGNC gene]
- glycogen storage disease id [MeSH concept]
- glycogen storage disease id [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
CISMeF manual mappings
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Deficiency of glucose-6-phosphatase (disorder) [SNOMED CT concept]
- Glucose-6-phosphatase deficiency [MedDRA LLT]
- Glycogen Storage Disease [NCIt concept]
- Glycogen Storage Disease Type I [NCIt concept]
- Glycogen Storage Disease Type Ia [NCIt concept]
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ICD-11 More detail]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphate system deficiency [ICD-11 More detail]
- Glycogen storage disease type I [MedDRA Preferred Term]
- Glycogen storage disease type IA [MedDRA LLT]
- Glycogen storage disease type Ia (disorder) [SNOMED CT concept]
- Glycogen storage disease, type I (disorder) [SNOMED CT concept]
- Hepatorenal form of glycogen storage disease [MeSH concept]
- Type I glycogen storage disease [MedDRA LLT]
- Von Gierke's disease [MedDRA LLT]
- glycogen storage disease [MeSH Descriptor]
- glycogen storage disease [MeSH concept]
- glycogen storage disease I [DO Concept]
- glycogen storage disease type 1 [Disease (Nov.)]
- glycogen storage disease type 1a [Disease (Nov.)]
- glycogen storage disease type I [MeSH concept]
- glycogen storage disease type i [MeSH Descriptor]
- glycogen storage disease, type i [SNOMED Notion]
- hepatorenal form of glycogen storage disease [MeSH Supplementary Concept]
DO Cross reference
- glycogen storage disease I [DO Concept]
Genes related to phenotype
- Glucose-6-phosphatase, catalytic [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased glomerular filtration rate [HPO term]
- Decreased muscle mass [HPO term]
- Delayed puberty [HPO term]
- Doll-like facies [HPO term]
- Elevated hepatic transaminase [HPO term]
- Enlarged kidney [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Gout [HPO term]
- Hepatocellular carcinoma [HPO term]
- Hepatomegaly [HPO term]
- Hyperlipidemia [HPO term]
- Hypertension [HPO term]
- Hyperuricemia [HPO term]
- Hypoglycemia [HPO term]
- Intermittent diarrhea [HPO term]
- Lactic acidosis [HPO term]
- Lipemia retinalis [HPO term]
- Liver transaminases normal to slightly increased [HPO term]
- Nephrolithiasis [HPO term]
- Osteoporosis [HPO term]
- Pancreatitis [HPO term]
- Proteinuria [HPO term]
- Protuberant abdomen [HPO term]
- Reduced creatinine clearance [HPO term]
- Short stature [HPO term]
- Xanthelasma [HPO term]
- Xanthomatosis [HPO term]
ORDO concept(s)
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of glucose-6-phosphatase (disorder) [SNOMED CT concept]
- Glucose-6-phosphatase deficiency [MedDRA LLT]
- Glycogen Storage Disease Type I [NCIt concept]
- Glycogen Storage Disease Type Ia [NCIt concept]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia [ORDO Disease]
- Glycogen storage disease type I [MedDRA Preferred Term]
- Glycogen storage disease type IA [MedDRA LLT]
- Glycogen storage disease type Ia (disorder) [SNOMED CT concept]
- Glycogen storage disease, type I (disorder) [SNOMED CT concept]
- Hepatorenal form of glycogen storage disease [MeSH concept]
- Type I glycogen storage disease [MedDRA LLT]
- Von Gierke's disease [MedDRA LLT]
- glycogen storage disease I [DO Concept]
- glycogen storage disease type 1 [Disease (Nov.)]
- glycogen storage disease type I [MeSH concept]
- glycogen storage disease type i [MeSH Descriptor]
- glycogen storage disease, type i [SNOMED Notion]
- hepatorenal form of glycogen storage disease [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Glycogen storage disease [ICD-11 Subcategory]

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