Glycogen storage disease III

Preferred Label : Glycogen storage disease III;

Symbol : GSD3;

CISMeF acronym : GSD IIIA; GSD IIIB; GSD IIIC; GSD IIID; GSD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Forbes disease; Cori disease; Limit dextrinosis; Amylo-1,6-glucosidase deficiency; Agl deficiency; Glycogen debrancher deficiency; Gde deficiency;

Included titles and symbols : GSD IIIa; GSD IIIb; GSD IIIc; GSD IIId; Glycogen storage disease iiia; Glycogen storage disease iiib; Glycogen storage disease iiic; Glycogen storage disease iiid;

Description : Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990). Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996). Lucchiari et al. (2007) provided a review of GSD III.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the amylo-1,6-glucosidase, 4-alpha-glucanotransferase gene (AGL, 610860.0001);

Laboratory abnormalities : Amylo-1,6-glucosidase deficiency; Hypoglycemia; Hyperlipidemia; Normal blood lactate; Normal uric acid; Elevated transaminases; Increased serum creatine kinase;

Prefixed ID : #232400;

Details

Origin ID

232400;

UMLS CUI

C0017922;

Automatic exact mappings (from CISMeF team)
- Glycogen Storage Disease [NCIt concept]
- glycogen storage disease [MeSH Descriptor]
- glycogen storage disease [MeSH concept]
- glycogen storage disease III [DO Concept]
- glycogen storage disease IIIA [MeSH Supplementary Concept]
- glycogen storage disease IIIA [MeSH concept]
- glycogen storage disease IIIB [MeSH Supplementary Concept]
- glycogen storage disease IIIB [MeSH concept]
- glycogen storage disease IIIC [MeSH Supplementary Concept]
- glycogen storage disease IIIC [MeSH concept]
- glycogen storage disease IIID [MeSH Supplementary Concept]
- glycogen storage disease IIID [MeSH concept]
- glycogen storage disease id [MeSH concept]
- glycogen storage disease id [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Debrancher deficiency [MedDRA LLT]
- Deficiency of amylo-1,6-glucosidase (disorder) [SNOMED CT concept]
- Forbes' disease [MedDRA LLT]
- Glycogen Storage Disease Type III [NCIt concept]
- Glycogen storage disease due to glycogen debranching enzyme deficiency [ORDO Disease]
- Glycogen storage disease due to glycogen debranching enzyme deficiency [ICD-11 More detail]
- Glycogen storage disease type III [MedDRA Preferred Term]
- Glycogen storage disease, type III (disorder) [SNOMED CT concept]
- glycogen storage disease type 3 [Disease (Nov.)]
- glycogen storage disease type III [MeSH concept]
- glycogen storage disease type iii [MeSH Descriptor]
- glycogen storage disease, type iii [SNOMED Notion]
DO Cross reference
- glycogen storage disease III [DO Concept]
Genes related to phenotype
- Amylo-1,6-glucosidase, 4-alpha-glucanotransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad nasal tip [HPO term]
- Broad upturned nasal tip [HPO term]
- Cardiomyopathy [HPO term]
- Deeply set eye [HPO term]
- Depressed nasal bridge [HPO term]
- Distal amyotrophy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Flattened nasal bridge [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperlipidemia [HPO term]
- Hypoglycemia [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Short stature [HPO term]
- Thin upper lip vermilion [HPO term]
- Thin vermilion border [HPO term]
- Ventricular hypertrophy [HPO term]
- Ventricular hypertrophy on ECG [HPO term]
ORDO concept(s)
- Glycogen storage disease due to glycogen debranching enzyme deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Debrancher deficiency [MedDRA LLT]
- Forbes' disease [MedDRA LLT]
- Glycogen Storage Disease Type III [NCIt concept]
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form [ORDO Disease]
- Glycogen storage disease type III [MedDRA Preferred Term]
- Glycogen storage disease, type III (disorder) [SNOMED CT concept]
- glycogen storage disease III [DO Concept]
- glycogen storage disease type 3 [Disease (Nov.)]
- glycogen storage disease type III [MeSH concept]
- glycogen storage disease type iii [MeSH Descriptor]
- glycogen storage disease, type iii [SNOMED Notion]

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