Galactosemia iv

Preferred Label : Galactosemia iv;

Symbol : GALAC4;

CISMeF acronym : GALAC4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Galactose mutarotase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the galactose mutarotase gene (GALM, 137030.0001);

Laboratory abnormalities : Elevated liver transaminases (rare); Elevated blood galactose (in untreated patients); Elevated blood galactose-1-phosphate (in the newborn period);

Prefixed ID : #618881;

Details

Origin ID

618881;

UMLS CUI

C5394377;

Automatic exact mappings (from CISMeF team)
- GALM wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Deficiency of galactose mutarotase (disorder) [SNOMED CT concept]
- Galactose mutarotase deficiency [ORDO Disease]
Genes related to phenotype
- Galactose mutarotase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Hypergalactosemia [HPO term]
- Prolonged neonatal jaundice [HPO term]
Not associated HPO term(s)
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
ORDO concept(s)
- Galactose mutarotase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of galactose mutarotase (disorder) [SNOMED CT concept]

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