Glycogen storage disease VI

Preferred Label : Glycogen storage disease VI;

Symbol : GSD6;

CISMeF acronym : GSD VI; GSD6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gsd VI; Hers disease; Phosphorylase deficiency glycogen-storage disease of liver;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the liver glycogen phosphorylase gene (PYGL, 613741.0001);

Laboratory abnormalities : Hepatic phosphorylase deficiency; Variable hyperlipidemia; Variable hypoglycemia; No lactic acidosis; No hyperuricemia;

Prefixed ID : #232700;

Details

Origin ID

232700;

UMLS CUI

C0017925;

Automatic exact mappings (from CISMeF team)
- Glycogen storage disease due to liver glycogen phosphorylase deficiency [ICD-11 More detail]
- glycogen phosphorylase L [ORDO Gene]
- glycogen phosphorylase L [HGNC gene]
- glycogen storage disease VI [DO Concept]
Currated CISMeF NLP mapping
- Glycogen Storage Disease Type VI [NCIt concept]
- Glycogen storage disease due to liver glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease type VI [MedDRA Preferred Term]
- Glycogen storage disease, type VI (disorder) [SNOMED CT concept]
- Glycogenosis VI Hers [PASCAL descriptor]
- Glycogenosis type VI [MedDRA LLT]
- glycogen storage disease type 6 [Disease (Nov.)]
- glycogen storage disease type VI [MeSH concept]
- glycogen storage disease type vi [MeSH Descriptor]
- glycogen storage disease, type vi [SNOMED Notion]
DO Cross reference
- glycogen storage disease VI [DO Concept]
False automatic mappings
- Hepatic glycogen phosphorylase deficiency (disorder) [Inactive SNOMED CT concept]
Genes related to phenotype
- Glycogen phosphorylase, liver [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive in infancy [HPO term]
- Growth retardation as children [HPO term]
- Hepatomegaly [HPO term]
- Hypercholesterolemia [HPO term]
- Hyperlipidemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypoglycemia [HPO term]
- Increased hepatic glycogen content [HPO term]
- Postnatal growth retardation [HPO term]
- Variable hyperlipidemia [HPO term]
- Variable hypoglycemia [HPO term]
Not associated HPO term(s)
- Hyperuricemia [HPO term]
- Lactic acidosis [HPO term]
ORDO concept(s)
- Glycogen storage disease due to liver glycogen phosphorylase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen Storage Disease Type VI [NCIt concept]
- Glycogen storage disease due to liver glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease type VI [MedDRA Preferred Term]
- Glycogen storage disease, type VI (disorder) [SNOMED CT concept]
- Glycogenosis type VI [MedDRA LLT]
- Hepatic glycogen phosphorylase deficiency (disorder) [Inactive SNOMED CT concept]
- Hers glycogenosis [MedDRA LLT]
- glycogen storage disease VI [DO Concept]
- glycogen storage disease type 6 [Disease (Nov.)]
- glycogen storage disease type VI [MeSH concept]
- glycogen storage disease type vi [MeSH Descriptor]
- glycogen storage disease, type vi [SNOMED Notion]

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