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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 7 134,442,350 134,459,239 RGD:1599728
G CRYAA crystallin alpha A JBrowse link 21 43,169,008 43,172,810 RGD:1600994
G DDIT3 DNA damage inducible transcript 3 JBrowse link 12 57,516,588 57,520,517 RGD:1599728
G GALE UDP-galactose-4-epimerase JBrowse link 1 23,795,599 23,800,754 RGD:11554173
G GALK1 galactokinase 1 JBrowse link 17 75,757,894 75,765,192 RGD:11554173
G GALT galactose-1-phosphate uridylyltransferase JBrowse link 9 34,646,589 34,651,035 RGD:8554872
RGD:11554173
G IL11RA interleukin 11 receptor subunit alpha JBrowse link 9 34,652,185 34,661,902 RGD:8554872
classic galactosemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GALT galactose-1-phosphate uridylyltransferase JBrowse link 9 34,646,589 34,651,035 RGD:8554872
RGD:7240710
galactokinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GALK1 galactokinase 1 JBrowse link 17 75,757,894 75,765,192 RGD:8554872
RGD:7240710
G ITGB4 integrin subunit beta 4 JBrowse link 17 75,721,339 75,757,819 RGD:8554872
galactose epimerase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GALE UDP-galactose-4-epimerase JBrowse link 1 23,795,599 23,800,754 RGD:8554872
RGD:7240710
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase JBrowse link 1 23,801,877 23,825,459 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16490
    Nutritional and Metabolic Diseases 4550
      disease of metabolism 4550
        inherited metabolic disorder 1942
          carbohydrate metabolic disorder 358
            galactosemia 9
              classic galactosemia 1
              galactokinase deficiency 2
              galactose epimerase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16490
    disease of anatomical entity 15415
      nervous system disease 11653
        central nervous system disease 9763
          brain disease 9037
            Metabolic Brain Diseases 518
              Metabolic Brain Diseases, Inborn 451
                galactosemia 9
                  classic galactosemia 1
                  galactokinase deficiency 2
                  galactose epimerase deficiency 2
paths to the root

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