Glycogen storage disease iv

Preferred Label : Glycogen storage disease iv;

Symbol : GSD4;

CISMeF acronym : GSD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glycogenosis iv; Glycogen branching enzyme deficiency; Gbe1 deficiency; Andersen disease; Brancher deficiency; Gsd iv; Cirrhosis, familial, with deposition of abnormal glycogen; AMYLOPECTINOSIS;

Included titles and symbols : Gsd iv, neuromuscular form, adult, with isolated myopathy; Gsd iv, neuromuscular form, fatal perinatal; Gsd iv, neuromuscular form, congenital; Gsd iv, classic hepatic; Gsd iv, neuromuscular form, childhood; Gsd iv, nonprogressive hepatic;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glycogen branching enzyme gene (GBE1, 607839.0001);

Laboratory abnormalities : Amylo(1,4 - 1,6) transglucosidase deficiency (brancher enzyme); Broad tissue deposition of amylopectin-like material; Normal serum creatine kinase;

Prefixed ID : #232500;

Details

Origin ID

232500;

UMLS CUI

C0017923;

Automatic exact mappings (from CISMeF team)
- 1,4-alpha-glucan branching enzyme 1 [ORDO Gene]
- 1,4-alpha-glucan branching enzyme 1 [HGNC gene]
- Andersen disease [MedDRA LLT]
- Cirrhosis, familial, with deposition of abnormal glycogen [MeSH concept]
- GSD IV, classic hepatic [MeSH concept]
- GSD IV, classic hepatic [MeSH Supplementary Concept]
- GSD IV, neuromuscular form, adult, with isolated myopathy [MeSH concept]
- GSD IV, neuromuscular form, adult, with isolated myopathy [MeSH Supplementary Concept]
- GSD IV, neuromuscular form, childhood [MeSH concept]
- GSD IV, neuromuscular form, childhood [MeSH Supplementary Concept]
- GSD IV, neuromuscular form, congenital [MeSH concept]
- GSD IV, neuromuscular form, congenital [MeSH Supplementary Concept]
- GSD IV, neuromuscular form, fatal perinatal [MeSH concept]
- GSD IV, neuromuscular form, fatal perinatal [MeSH Supplementary Concept]
- GSD IV, nonprogressive hepatic [MeSH concept]
- GSD IV, nonprogressive hepatic [MeSH Supplementary Concept]
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form [ORDO Disease]
- cirrhosis, familial, with deposition of abnormal glycogen [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Dilated cardiomyopathy due to glycogen branching enzyme deficiency [ICD-11 More detail]
- Glycogen Storage Disease Type IV [NCIt concept]
- Glycogen storage disease due to glycogen branching enzyme deficiency [ORDO Disease]
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form [ORDO Disease]
- Glycogen storage disease type IV [MedDRA Preferred Term]
- Glycogen storage disease, type IV (disorder) [SNOMED CT concept]
- Glycogenosis type IV [MedDRA LLT]
- glycogen storage disease IV [DO Concept]
- glycogen storage disease type 4 [Disease (Nov.)]
- glycogen storage disease type IV [MeSH concept]
- glycogen storage disease type iv [MeSH Descriptor]
- glycogen storage disease, type iv [SNOMED Notion]
DO Cross reference
- glycogen storage disease IV [DO Concept]
Genes related to phenotype
- Glycogen branching enzyme [OMIM gene]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cirrhosis [HPO term]
- Decreased fetal movement [HPO term]
- Edema [HPO term]
- Esophageal varix [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Hepatic failure [HPO term]
- Hepatosplenomegaly [HPO term]
- Hydrops fetalis [HPO term]
- Hypotonia [HPO term]
- Interstitial fibrosis [HPO term]
- Muscle weakness [HPO term]
- Polyhydramnios [HPO term]
- Portal hypertension [HPO term]
- Reduced tendon reflexes [HPO term]
- Skeletal muscle atrophy [HPO term]
- Tubulointerstitial fibrosis [HPO term]
Not associated HPO term(s)
- Abnormal circulating creatine kinase concentration [HPO term]
ORDO concept(s)
- Glycogen storage disease due to glycogen branching enzyme deficiency [ORDO Disease]
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form [ORDO Disease]
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form [ORDO Disease]
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form [ORDO Disease]
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form [ORDO Disease]
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form [ORDO Disease]
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form [ORDO Disease]
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Andersen disease [MedDRA LLT]
- Deficiency of 1,4-alpha-glucan branching enzyme (disorder) [SNOMED CT concept]
- Dilated cardiomyopathy due to glycogen branching enzyme deficiency [ICD-11 More detail]
- Glycogen Storage Disease Type IV [NCIt concept]
- Glycogen storage disease due to glycogen branching enzyme deficiency [ORDO Disease]
- Glycogen storage disease type IV [MedDRA Preferred Term]
- Glycogen storage disease, type IV (disorder) [SNOMED CT concept]
- Glycogenosis type IV [MedDRA LLT]
- glycogen storage disease IV [DO Concept]
- glycogen storage disease type 4 [Disease (Nov.)]
- glycogen storage disease type IV [MeSH concept]
- glycogen storage disease type iv [MeSH Descriptor]
- glycogen storage disease, type iv [SNOMED Notion]
Validated automatic mappings to BTNT
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form [ORDO Disease]
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form [ORDO Disease]
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form [ORDO Disease]
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form [ORDO Disease]
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form [ORDO Disease]

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