Glycogen Storage Disease Type VII

Preferred Label : Glycogen Storage Disease Type VII;

NCIt synonyms : PFKM Deficiency; Tarui Disease; Glycogen Storage Disease VII; GSDVII; GSD7; Muscle Phosphofructokinase Deficiency;

NCIt related terms : Phosphofructokinase Deficiency;

NCIt definition : A rare, autosomal recessive inherited metabolic disorder caused by mutation in the PFKM gene. It results in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise. Affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness.;

Alternative definition : NICHD: A rare, autosomal recessive, inherited, metabolic disorder that is caused by mutation of the PFKM gene, resulting in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise; affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness.;

Détails

Origin ID

C118437;

UMLS CUI

C0017926;

Currated CISMeF NLP mapping
- Glycogen storage disease VII [OMIM Phenotype]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ICD-11 More detail]
- Glycogen storage disease type VII [MedDRA Preferred Term]
- Glycogen storage disease, type VII (disorder) [SNOMED CT concept]
- Tarui disease [MedDRA LLT]
- glycogen storage disease VII [DO Concept]
- glycogen storage disease type VII [MeSH concept]
- glycogen storage disease type vii [MeSH Descriptor]
- glycogen storage disease, type vii [SNOMED Notion]
DO Cross reference
- glycogen storage disease VII [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease VII [OMIM Phenotype]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ICD-11 More detail]
- Glycogen storage disease type VII [MedDRA Preferred Term]
- Glycogen storage disease, type VII (disorder) [SNOMED CT concept]
- Glycogenosis type VII [MedDRA LLT]
- Muscle phosphofructokinase deficiency (disorder) [Inactive SNOMED CT concept]
- Tarui disease [MedDRA LLT]
- glycogen storage disease VII [DO Concept]
- glycogen storage disease type 7 [Disease (Nov.)]
- glycogen storage disease type VII [MeSH concept]
- glycogen storage disease type vii [MeSH Descriptor]
- glycogen storage disease, type vii [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PFKM Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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