Disorders of galactose metabolism (Homo sapiens)

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SGLT1 deficiencyGalactokinase deficiency(Liver) CellEnterocytesGLUT2 deficiencygalactoseGlucose-1-Phosphateglactose dehydrogenase ????Galactose-1-phosphateAKR1B1GALK1PGM1PGAM1SLC5A1ADPUDP-galactoseATPSLC2A2GALTGlucose-6-phosphateD-galactonateGlucose-1-phosphateGlycogenUDP-glucoseglucose-6-phosphategalactoseGalactitolGALEgalactose


Description

diseases of galactose metabolism

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Quality Tags

Ontology Terms

 

Bibliography

  1. Coelho AI, Berry GT, Rubio-Gozalbo ME; ''Galactose metabolism and health.''; Curr Opin Clin Nutr Metab Care, 2015 PubMed Europe PMC Scholia
  2. Blau, Nenad, Duran, Marinus, Gibson, K. Michael, Dionisi-Vici, Carlo.; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; Springer-Verlag Berlin Heidelberg, ed.4. 2014. DOI Scholia
  3. Dorit Koren, Andrew Palladino; ''Hypoglycemia. Genetic Diagnosis of endocrine disorders''; https://doi.org/10.1016/B978-0-12-800892-8.00003-8, 2016 DOI Scholia
  4. Morava E; ''Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG.''; Mol Genet Metab, 2014 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128234view13:48, 29 January 2024EweitzSoften disease color; standardize case, pathway node shape
125325view22:16, 31 January 2023LarsgwAdd DOI to reference
124893view14:29, 29 December 2022EgonwManually added the DOI identifier as identifier too
122082view13:13, 10 March 2022AlexandraboschOntology Term : 'glycogen storage disease XV' added !
122081view12:48, 10 March 2022Alexandraboschdisease label changed
122060view13:41, 9 March 2022Alexandraboschlayout changes
122043view10:59, 9 March 2022AlexandraboschOntology Term : 'GALE deficiency pathway' added !
122042view10:58, 9 March 2022AlexandraboschOntology Term : 'DOID:0050570' removed !
122041view10:58, 9 March 2022AlexandraboschOntology Term : 'congenital disorder of glycosylation It' added !
122040view10:58, 9 March 2022AlexandraboschOntology Term : 'congenital disorder of glycosylation type I' added !
122034view10:51, 9 March 2022AlexandraboschOntology Term : 'glycogen storage disease IV' added !
122033view10:49, 9 March 2022AlexandraboschOntology Term : 'glycogen storage disease' added !
122031view10:49, 9 March 2022AlexandraboschOntology Term : 'glycogen storage disease VI' added !
122028view10:43, 9 March 2022Alexandraboschcorrection of anchor attachment of disease labels
122024view10:26, 9 March 2022Alexandraboschaddition of new diseases
122001view08:52, 9 March 2022Alexandraboschaddition of legend, reference and correction of disease labels
121833view09:38, 7 March 2022AlexandraboschModified description
121832view09:35, 7 March 2022AlexandraboschModified description
121753view11:41, 3 March 2022DeSllayout changes top right corner
121752view11:39, 3 March 2022DeSlConnected PGM1, small layout changes
121751view11:37, 3 March 2022DeSlSmall layout changes
121750view11:34, 3 March 2022DeSlFixed galactose dehydrogenase ID+database
121749view11:33, 3 March 2022DeSlDisconnected GBE1 due to unclear conversion direction. Converted 1 disease to have background colour (intestinal...)
121747view11:22, 3 March 2022DeSlConverted MIM-conversion to arrow (GBE1 reaction glycogen)
121689view08:00, 25 February 2022EgonwRemoved the RHEA prefix
121537view10:07, 21 February 2022EnzoChiaradiaOntology Term : 'galactose epimerase deficiency' added !
121536view10:03, 21 February 2022EnzoChiaradiaOntology Term : 'galactokinase deficiency' added !
121514view15:06, 20 February 2022EnzoChiaradiaadded missing Rhea annotations and added identifier to PYGL
121439view13:39, 17 February 2022AlexandraboschOntology Term : 'carbohydrate metabolic pathway' added !
121438view13:38, 17 February 2022AlexandraboschOntology Term : 'classic metabolic pathway' added !
121400view10:09, 17 February 2022AlexandraboschModified description
121399view10:09, 17 February 2022AlexandraboschModified description
121391view09:47, 17 February 2022AlexandraboschOntology Term : 'glycolysis pathway' added !
121386view09:27, 17 February 2022AlexandraboschOntology Term : 'altered galactose metabolic pathway' added !
121385view09:22, 17 February 2022AlexandraboschOntology Term : 'galactose metabolic pathway' added !
121384view09:21, 17 February 2022AlexandraboschOntology Term : 'galactosemia' added !
121383view09:21, 17 February 2022AlexandraboschOntology Term : 'disease pathway' added !
121382view09:10, 17 February 2022Alexandraboschremoved wrongly placed pathway node
121184view15:08, 10 February 2022Alexandraboschaddition of OMIM disease links

correction of direction of Rhea-reactions

addition of parts to glycogen synthesis pathway
121168view12:29, 10 February 2022Alexandraboschaddition of references
121161view09:56, 10 February 2022AlexandraboschModified title
121132view15:17, 9 February 2022Alexandraboschaddition of Rhea interactions
121127view12:59, 9 February 2022AlexandraboschNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ADPMetaboliteCHEBI:456216 (ChEBI)
AKR1B1GeneProductENSG00000085662 (Ensembl)
ATPMetaboliteCHEBI:30616 (ChEBI)
D-galactonateMetaboliteCHEBI:12931 (ChEBI)
GALEGeneProductENSG00000117308 (Ensembl)
GALK1GeneProductENSG00000108479 (Ensembl)
GALTGeneProductENSG00000213930 (Ensembl)
GalactitolMetaboliteHMDB00107 (HMDB)
Galactose-1-phosphateMetaboliteCHEBI:17973 (ChEBI)
Glucose-1-PhosphateMetaboliteCHEBI:16077 (ChEBI)
  • search as Glc-1-P
  • Type your comment here
Glucose-1-phosphateMetaboliteCHEBI:16077 (ChEBI)
Glucose-6-phosphateMetaboliteHMDB01401 (HMDB)
  • search for glucose 6-phosphate
  • Type your comment here
GlycogenMetaboliteCHEBI:28087 (ChEBI)
PGAM1GeneProductENSG00000171314 (Ensembl)
PGM1GeneProductENSG00000079739 (Ensembl)
SLC2A2GeneProductENSG00000163581 (Ensembl)
SLC5A1GeneProductENSG00000100170 (Ensembl)
UDP-galactoseMetaboliteCHEBI:67119 (ChEBI)
UDP-glucoseMetaboliteCHEBI:18066 (ChEBI)
galactoseMetaboliteCHEBI:28260 (ChEBI)
glactose dehydrogenase ????GeneProduct
glucose-6-phosphate

Annotated Interactions

No annotated interactions

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