Glycogen storage disease XII

Preferred Label : Glycogen storage disease XII;

Symbol : GSD12;

CISMeF acronym : GSD XII; GSD12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aldoa deficiency; Gsd XII; Red cell aldolase deficiency; Aldolase a deficiency; Aldolase deficiency, red cell;

Description : Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Aldolase A, fructose-bisphosphatase gene (ALDOA, 103850.0001);

Laboratory abnormalities : Aldolase A deficiency;

Prefixed ID : #611881;

Details

Origin ID

611881;

UMLS CUI

C0272066;

Automatic exact mappings (from CISMeF team)
- glycogen storage disease XIII [MeSH concept]
Currated CISMeF NLP mapping
- Glycogen storage disease due to aldolase A deficiency [ORDO Disease]
- Glycogen storage disease due to aldolase A deficiency [ICD-11 More detail]
- Glycogen storage disease due to aldolase A deficiency (disorder) [SNOMED CT concept]
- Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder) [Inactive SNOMED CT concept]
- glycogen storage disease XII [MeSH concept]
- glycogen storage disease XII [MeSH Supplementary Concept]
- hnsha due to aldolase deficiency [SNOMED Notion]
Genes related to phenotype
- Aldolase a, fructose-bisphosphate [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cholecystitis [HPO term]
- Cholelithiasis [HPO term]
- Delayed puberty [HPO term]
- Epicanthus [HPO term]
- Intellectual disability [HPO term]
- Jaundice [HPO term]
- Low posterior hairline [HPO term]
- Myopathy [HPO term]
- Nonspherocytic hemolytic anemia [HPO term]
- Normochromic anemia [HPO term]
- Normocytic anemia [HPO term]
- Ptosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Glycogen storage disease due to aldolase A deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to aldolase A deficiency [ORDO Disease]
- Glycogen storage disease due to aldolase A deficiency [ICD-11 More detail]
- Glycogen storage disease due to aldolase A deficiency (disorder) [SNOMED CT concept]
- Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder) [Inactive SNOMED CT concept]
- glycogen storage disease XII [MeSH Supplementary Concept]
- glycogen storage disease XII [MeSH concept]
- hnsha due to aldolase deficiency [SNOMED Notion]

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