Glycogen storage disease ixa1

Preferred Label : Glycogen storage disease ixa1;

Symbol : GSD9A1;

CISMeF acronym : GSD IXA2; GSD8; GSD9A1; GSD9A2; XLG1; XLG2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Liver glycogenosis, X-linked, type I; Glycogen storage disease VIII; Gsd VIII; XLG1; GSD8;

Included titles and symbols : Glycogen storage disease ixa2; Gsd ixa2; Liver glycogenosis, X-linked, type II; GSD9A2; XLG2;

Description : Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB; 172490), gamma (PHKG2; 172471), and delta (CALM1; 114180). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9a, GSD9b (261750), and GSD9c (613027), respectively. GSD9a is an X-linked recessive disorder, whereas the others are autosomal recessive. See also X-linked muscle PHK deficiency (GSD9D; 300559), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1; 311870). GSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes (Keating et al., 1985; Hendrickx et al., 1994; Beauchamp et al., 2007).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the liver phosphorylase alpha-2 subunit gene (PHKA2, 306000.0001);

Laboratory abnormalities : Liver phosphorylase kinase (PHK) deficiency; Phosphorylase kinase normal in muscle; Variable hypoglycemia; Mild elevation of transaminases; Mild elevation of cholesterol; Mild elevation of triglycerides; Fasting ketosis;

Prefixed ID : #306000;

Details

Origin ID

306000;

UMLS CUI

C3694531;

Automatic exact mappings (from CISMeF team)
- Glycogen storage disease type VIII (disorder) [SNOMED CT concept]
- glycogen storage disease VIII [DO Concept]
- liver glycogenosis, X-Linked, type II [MeSH concept]
- liver glycogenosis, X-Linked, type II [MeSH Supplementary Concept]
DO Cross reference
- glycogen storage disease IXa [DO Concept]
Genes related to phenotype
- Phosphorylase kinase, liver, alpha-2 subunit [OMIM gene]
HPO term(s)
- Elevated hepatic transaminase [HPO term]
- Growth delay [HPO term]
- Hepatomegaly [HPO term]
- Hypercholesterolemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypoglycemia [HPO term]
- Ketosis [HPO term]
- Mild hypertriglyceridemia [HPO term]
- Motor delay [HPO term]
- Variable hypoglycemia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Glycogen storage disease due to liver phosphorylase kinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- glycogen storage disease, type IXA2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Glycogen storage disease due to liver phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease due to phosphorylase kinase deficiency [ORDO Disease]

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