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ONTOLOGY REPORT - ANNOTATIONS


Term:galactosemia
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Accession:DOID:9870 term browser browse the term
Definition:A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
Synonyms:exact_synonym: DEFICIENCY OF UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;   Galactosaemia;   Galactose intolerance;   UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency;   UTP Hexose 1 Phosphate Uridylyltransferase Deficiency;   UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease;   galactosemias
 narrow_synonym: GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT;   Hereditary Galactokinase Deficiencies;   Hereditary Galactokinase Deficiency
 primary_id: MESH:D005693
 alt_id: RDO:0001401
 xref: GARD:2424;   ICD10CM:E74.21;   ICD9CM:271.1;   NCI:C84723
For additional species annotation, visit the Alliance of Genome Resources.


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galactosemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akr1b1 aldo-keto reductase family 1 member B JBrowse link 4 61,706,866 61,720,959 RGD:1599728
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:1600994
G Ddit3 DNA-damage inducible transcript 3 JBrowse link 7 70,578,564 70,585,074 RGD:1599728
G Gale UDP-galactose-4-epimerase JBrowse link 5 154,310,453 154,314,959 RGD:11554173
G Galk1 galactokinase 1 JBrowse link 10 104,560,322 104,564,499 RGD:11554173
G Galt galactose-1-phosphate uridylyltransferase JBrowse link 5 58,144,679 58,147,946 RGD:8554872
RGD:11554173
G Il11ra1 interleukin 11 receptor subunit alpha 1 JBrowse link 5 58,149,150 58,159,072 RGD:8554872
classic galactosemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Galt galactose-1-phosphate uridylyltransferase JBrowse link 5 58,144,679 58,147,946 RGD:8554872
RGD:7240710
galactokinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Galk1 galactokinase 1 JBrowse link 10 104,560,322 104,564,499 RGD:8554872
RGD:7240710
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:8554872
galactose epimerase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gale UDP-galactose-4-epimerase JBrowse link 5 154,310,453 154,314,959 RGD:8554872
RGD:7240710
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase JBrowse link 5 154,294,841 154,308,582 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        inherited metabolic disorder 1895
          carbohydrate metabolic disorder 327
            galactosemia 9
              classic galactosemia 1
              galactokinase deficiency 2
              galactose epimerase deficiency 2
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            Metabolic Brain Diseases 481
              Metabolic Brain Diseases, Inborn 414
                galactosemia 9
                  classic galactosemia 1
                  galactokinase deficiency 2
                  galactose epimerase deficiency 2
paths to the root

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