Glycogen storage disease XI

Preferred Label : Glycogen storage disease XI;

Symbol : GSD11;

CISMeF acronym : GSD11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gsd XI; Lactate dehydrogenase a deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lactate dehydrogenase A gene (LDHA, 150000.0001);

Laboratory abnormalities : Increased serum creatine kinase; Increased serum lactate; Increased serum pyruvate;

Prefixed ID : #612933;

Details

Origin ID

612933;

UMLS CUI

C2931743;

Automatic exact mappings (from CISMeF team)
- LDHA wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- FANCONI SYNDROME [WHO-ART Included Term]
- Fanconi Syndrome [NCIt concept]
- Fanconi syndrome [MedDRA Preferred Term]
- Fanconi syndrome (disorder) [SNOMED CT concept]
- Fanconi-Bickel syndrome [ORDO Disease]
- Glycogen Storage Disease Type XI [NCIt concept]
- Glycogen storage disease due to GLUT2 deficiency [ICD-11 More detail]
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ORDO Disease]
- Glycogen storage disease due to lactate dehydrogenase deficiency [ORDO Disease]
- Glycogenosis with glucoaminophosphaturia (disorder) [SNOMED CT concept]
- Lactate dehydrogenase deficiency (disorder) [SNOMED CT concept]
- fanconi bickel syndrome [MeSH concept]
- fanconi syndrome [MeSH Descriptor]
- fanconi syndrome [MeSH concept]
- fanconi syndrome, nos [SNOMED Notion]
- glycogen storage disease type 11 [Disease (Nov.)]
- glycogenosis with glucoaminophosphaturia [SNOMED Notion]
- lactate dehydrogenase deficiency [MeSH concept]
- lactate dehydrogenase deficiency [MeSH Supplementary Concept]
- lactate dehydrogenase deficiency type A [MeSH Supplementary Concept]
False automatic mappings
- Fanconi syndrome [ICD-11 Sub-sub category]
Genes related to phenotype
- Lactate dehydrogenase a [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise intolerance [HPO term]
- Increased serum lactate [HPO term]
- Increased serum pyruvate [HPO term]
- Juvenile onset [HPO term]
- Muscle spasm [HPO term]
- Muscle stiffness [HPO term]
- Myalgia [HPO term]
- Myoglobinuria [HPO term]
- Renal insufficiency [HPO term]
- Rhabdomyolysis [HPO term]
- Rigidity [HPO term]
ORDO concept(s)
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ORDO Disease]
- Glycogen storage disease due to lactate dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ORDO Disease]
- Lactate dehydrogenase deficiency type A [MeSH concept]
- glycogen storage disease type 11 [Disease (Nov.)]
- lactate dehydrogenase deficiency type A [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Lactate dehydrogenase deficiency [ICD-11 Sub-sub category]

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