glycogen storage disease type iv

Preferred Label : glycogen storage disease type iv;

MeSH definition : An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.;

MeSH synonym : glycogen branching enzyme deficiency; glycogen storage disease type 4; glycogenoses, type IV; glycogenosis 4s; type IV glycogenoses; disease, andersen's; andersens disease; type iv glycogenosis; glycogenosis 4; andersen's disease; deficiency, brancher; amylopectinoses; brancher deficiency; amylopectinosis; brancher deficiencies; deficiencies, brancher; andersen disease; disease, andersen; glycogenosis, type iv; glycogenosis IV; glycogenosis IVs; Gbe1 deficiency; deficiencies, Gbe1; deficiency, Gbe1; Gbe1 deficiencies;

MeSH annotation : do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis;

Wikipedia link : https://en.wikipedia.org/wiki/Andersen's disease;

Details

Origin ID

D006011;

UMLS CUI

C0017923;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
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]
- GDS - Prefer to Avoid Social Gatherings [NCIt concept]
- Glycogen storage disease [ICD-10 Sub-category]
- Glycogen storage disease [ICD-10 Sub-category (who)]
- Glycogenosis IV Andersen [PASCAL descriptor]
Currated CISMeF NLP mapping
- 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 iv [OMIM Phenotype]
- 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 [SNOMED Notion]
DO Cross reference
- glycogen storage disease IV [DO Concept]
Manual NTBT mappings (CISMeF)
- Muscular glycogenosis [ORDO Disease]
- Rare metabolic liver disease [ORDO Disease]
Record concept(s)
- glycogen storage disease type IV [MeSH concept]
Related MeSH Supplementary Concept(s)
- GSD IV, classic hepatic [MeSH Supplementary Concept]
- GSD IV, neuromuscular form, adult, with isolated myopathy [MeSH Supplementary Concept]
- GSD IV, neuromuscular form, childhood [MeSH Supplementary Concept]
- GSD IV, neuromuscular form, congenital [MeSH Supplementary Concept]
- GSD IV, neuromuscular form, fatal perinatal [MeSH Supplementary Concept]
- GSD IV, nonprogressive hepatic [MeSH Supplementary Concept]
- cirrhosis, familial, with deposition of abnormal glycogen [MeSH Supplementary Concept]
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 iv [OMIM Phenotype]
- 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 [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients