Galactosemia I

Preferred Label : Galactosemia I;

Symbol : GALAC1;

CISMeF acronym : GALAC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Galactose-1-phosphate uridylyltransferase deficiency; Galt deficiency; Galactosemia, classic;

Included titles and symbols : Galactosemia, duarte variant;

Description : Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in galactose-1-phosphate uridyltransferase gene (GALT, 230400.0001);

Laboratory abnormalities : Galactose-1-phosphate uridyltransferase deficiency; In untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria;

Prefixed ID : #230400;

Détails

Origin ID

230400;

UMLS CUI

C0268151;

Automatic exact mappings (from CISMeF team)
- Classic galactosemia [ORDO Disease]
- Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder) [SNOMED CT concept]
- Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) [SNOMED CT concept]
- Disorders of galactose metabolism [ICD-10 Sub-category (who)]
- Hypergalactosemia [HPO term]
- classic galactosemia [DO Concept]
- classical galactosemia [SNOMED Notion]
Currated CISMeF NLP mapping
- Galactosaemia [Vue CIM-11]
- Galactosaemia [MedDRA Preferred Term]
- Galactose intolerance [MedDRA Preferred Term]
- Galactose intolerance [HPO term]
- Galactosemia [PASCAL descriptor]
- Galactosemia [NCIt concept]
- Galactosemia [ORDO Disease]
- Galactosemia [MedDRA LLT]
- Galactosemia [ICD-9 code]
- Galactosemia (disorder) [SNOMED CT concept]
- Galactosemias [LOINC component]
- galactosemia [DO Concept]
- galactosemia [Disease (Nov.)]
- galactosemia, nos [SNOMED Notion]
- galactosemias [MeSH Descriptor]
- galactosemias [MeSH concept]
DO Cross reference
- classic galactosemia [DO Concept]
Genes related to phenotype
- Galactose-1-phosphate uridylyltransferase [OMIM gene]
HPO term(s)
- Albuminuria [HPO term]
- Aminoaciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cirrhosis [HPO term]
- Decreased liver function [HPO term]
- Decreased liver function, progressive [HPO term]
- Diarrhea [HPO term]
- Elevated liver enzymes [HPO term]
- Failure to thrive [HPO term]
- Galactosuria [HPO term]
- Hemolytic anemia [HPO term]
- Hepatomegaly [HPO term]
- Hyperchloremic metabolic acidosis [HPO term]
- Hypergalactosemia [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Increased level of galactitol in plasma [HPO term]
- Increased level of galactitol in red blood cells [HPO term]
- Increased level of galactitol in urine [HPO term]
- Increased level of galactonate in red blood cells [HPO term]
- Intellectual disability [HPO term]
- Metabolic acidosis [HPO term]
- Premature ovarian insufficiency [HPO term]
- Vomiting [HPO term]
Matching ORDO disease(s)
- Galactosemia [ORDO Disease]
ORDO concept(s)
- Classic galactosemia [ORDO Disease]
- Galactosemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic galactosemia [ORDO Disease]
- Classical galactosemia [LOINC component]
- Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder) [SNOMED CT concept]
- Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) [SNOMED CT concept]
- Galactose-1-Phosphate Uridyl-Transferase deficiency disease [MeSH concept]
- Galactose-1-phosphate uridyltransferase deficiency [ICD-11 Sub-sub category]
- UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency [NCIt concept]
- classic galactosemia [DO Concept]
- classical galactosemia [SNOMED Notion]
Validated automatic mappings to BTNT
- Classical galactosemia [LOINC component]

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

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