Galactosemia II

Preferred Label : Galactosemia II;

Symbol : GALAC2;

CISMeF acronym : GALAC2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Galk deficiency; Galactokinase deficiency;

Description : Galactokinase deficiency is an autosomal recessive disorder which causes cataract formation in children not maintained on a lactose-free diet. Cataract formation is the result of osmotic phenomena caused by the accumulation of galactitol in the lens (Asada et al., 1999).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the galactokinase 1 gene (GALK1, 604313.0001);

Laboratory abnormalities : Galactosuria; Galactosemia; Decreased galactokinase activity;

Prefixed ID : #230200;

Details

Origin ID

230200;

UMLS CUI

C0268155;

Automatic exact mappings (from CISMeF team)
- Disorders of galactose metabolism [ICD-10 Sub-category (who)]
- Galactosemia [PASCAL descriptor]
- Galactosemia [NCIt concept]
- galactosemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Deficiency of galactokinase (disorder) [SNOMED CT concept]
- Galactokinase Deficiency [NCIt concept]
- Galactokinase deficiency [ICD-11 Sub-sub category]
- Galactokinase deficiency [LOINC component]
- Galactokinase deficiency [ORDO Disease]
- galactokinase deficiency [DO Concept]
- galactokinase deficiency disease [MeSH concept]
- galactokinase deficiency galactosemia [SNOMED Notion]
DO Cross reference
- galactokinase deficiency [DO Concept]
Genes related to phenotype
- Galactokinase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Galactosuria [HPO term]
- Hypergalactosemia [HPO term]
- Increased intracranial pressure [HPO term]
- Neonatal jaundice [HPO term]
- Prolonged neonatal jaundice [HPO term]
ORDO concept(s)
- Galactokinase deficiency [ORDO Disease]
- Galactosemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of galactokinase (disorder) [SNOMED CT concept]
- Galactokinase Deficiency [NCIt concept]
- Galactokinase deficiency [LOINC component]
- Galactokinase deficiency [ORDO Disease]
- Galactokinase deficiency [ICD-11 Sub-sub category]
- galactokinase deficiency [DO Concept]
- galactokinase deficiency disease [MeSH concept]
- galactokinase deficiency galactosemia [SNOMED Notion]
Validated automatic mappings to NTBT
- Galactosemia [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients