Glycogen Storage Disease Type Ia

Preferred Label : Glycogen Storage Disease Type Ia;

NCIt synonyms : Von Gierke Disease; Hepatorenal Glycogenosis; Glucose-6 Phosphatase Deficiency; GSD1A;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the G6PC gene, encoding glucose-6-phosphatase. It is characterized by accumulation of glycogen in the kidneys and liver resulting in hypoglycemia, hyperlipidemia, and hyperuricemia. Adults may have a high incidence of hepatic adenomas.;

Details

Origin ID

C162398;

UMLS CUI

C2919796;

Currated CISMeF NLP mapping
- 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 ia [OMIM Phenotype]
- Glycogen storage disease type IA [MedDRA LLT]
- Glycogen storage disease type Ia (disorder) [SNOMED CT concept]
- Hepatorenal form of glycogen storage disease [MeSH concept]
- Von Gierke's disease [MedDRA LLT]
- hepatorenal form of glycogen storage disease [MeSH Supplementary Concept]
See also inter- (CISMeF)
- glucose-6-phosphatase catalytic subunit 1 [ORDO Gene]
- glucose-6-phosphatase catalytic subunit 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia [ORDO Disease]
- Glycogen storage disease ia [OMIM Phenotype]
- Glycogen storage disease type IA [MedDRA LLT]
- Glycogen storage disease type Ia (disorder) [SNOMED CT concept]
- Hepatorenal form of glycogen storage disease [MeSH concept]
- hepatorenal form of glycogen storage disease [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
- Glycogen storage disease, type I (disorder) [SNOMED CT concept]
- glycogen storage disease I [DO Concept]
- glycogen storage disease type i [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- G6PC3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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