MCID: GLC004
MIFTS: 28

Galactokinase Deficiency malady

Summaries for Galactokinase Deficiency

Sources:
8Disease Ontology, 47OMIM, 33MalaCards
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Disease Ontology:8 A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.

MalaCards: Galactokinase Deficiency, also known as deficiency of galactokinase, is related to epimerase deficiency galactosemia and galactokinase deficiency with cataracts. An important gene associated with Galactokinase Deficiency is GALK1 (galactokinase 1), and among its related pathways are MPS IIIC - Sanfilippo syndrome C and GDP-mannose biosynthesis. The compounds galactose-1-phosphate and udpglucose have been mentioned in the context of this disorder. Affiliated tissues include whole blood.

Description from OMIM:47 230200

Aliases & Classifications for Galactokinase Deficiency

Sources:
8Disease Ontology, 61UMLS, 57SNOMED-CT, 35MeSH, 47OMIM
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Aliases & Descriptions:

galactokinase deficiency 8
deficiency of galactokinase 61
galactosemia ii 8


External Ids:

Disease Ontology8 DOID:14695
MeSH35 C535999
SNOMED-CT57 18612007, 124302001
OMIM47 230200

Related Diseases for Galactokinase Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Galactokinase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1epimerase deficiency galactosemia30.1GALT, GALK1
2galactokinase deficiency with cataracts10.5
3pseudotumor cerebri10.1
4hyperinsulinism10.1
5t cell deficiency10.1
6mental retardation10.1
7ovarian cancer10.0GALT
8galactosemia10.0GALT, GALK1
9cataract10.0GALT, GALK1
10metabolic syndrome x10.0GALT, GALK1

Graphical network of diseases related to Galactokinase Deficiency:



Diseases related to galactokinase deficiency

Clinical Features for Galactokinase Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

230200

Drugs & Therapeutics for Galactokinase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Galactokinase Deficiency

Drug clinical trials:

Search ClinicalTrials for Galactokinase Deficiency

Search NIH Clinical Center for Galactokinase Deficiency

Search CenterWatch for Galactokinase Deficiency

Genetic Tests for Galactokinase Deficiency

Anatomical Context for Galactokinase Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Galactokinase Deficiency:

33
Whole blood

Animal Models for Galactokinase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Galactokinase Deficiency

Sources:
51PubMed
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Articles related to Galactokinase Deficiency:

(show all 45)
idTitleAuthorsYear
1
Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene. (22632133)
2012
2
Galactokinase deficiency in a patient with congenital hyperinsulinism. (23430910)
2012
3
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. (21290184)
2011
4
Early cataract formation due to galactokinase deficiency: impact of newborn screening. (22154682)
2011
5
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency. (17517531)
2007
6
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. (15024738)
2004
7
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. (11978884)
2002
8
Galactokinase deficiency: a case report. (11859915)
2002
9
Clinical features of galactokinase deficiency: a review of the literature. (12705493)
2002
10
Novel mutations in the GALK1 gene in patients with galactokinase deficiency. (11139256)
2001
11
Novel mutations in 13 probands with galactokinase deficiency. (10790206)
2000
12
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). (10521295)
1999
13
Molecular characterization of galactokinase deficiency in Japanese patients. (10570908)
1999
14
Galactokinase deficiency]. (9589978)
1998
15
Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency. (1859354)
1991
16
Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency. (2516175)
1989
17
Cytosolic thymidine kinase activity in cultured human fibroblasts from individuals with galactokinase deficiency. (2775171)
1989
18
Early morning urine galactitol levels in relation to galactose intake: a possible method of monitoring the diet in galactokinase deficiency. (3141712)
1988
19
Thymidine kinase activity in individuals with galactokinase deficiency. (3631083)
1987
20
Cataracts in patients heterozygous for galactokinase deficiency. (3949470)
1986
21
Macular deposits in galactokinase deficiency. (3870945)
1985
22
Thymidine-kinase activity of cultured cells from individuals with inherited galactokinase deficiency. (6475956)
1984
23
Galactokinase deficiency and mental retardation. (490246)
1979
24
Phenotypic expression of galactokinase deficiency in heterozygous and homozygous subjects: in vivo and in vitro studies. (182297)
1976
25
Detection of inborn errors of metabolism. IV. Galactokinase deficiency. (170030)
1975
26
Letter: Additional findings in galactokinase deficiency. (171359)
1975
27
Galactokinase deficiency presenting as pseudotumor cerebri. (163306)
1975
28
Galactokinase deficiency in twins: clinical and biochemical studies. (4360930)
1974
29
Some inferences from galactokinase deficiency. (4360929)
1974
30
Galactose metabolism in a patient with hereditary galactokinase deficiency. (4365005)
1974
31
A fluorescent spot test for the detection of galactokinase deficiency. (4364011)
1974
32
Galactokinase deficiency as a cause of cataracts. (4700553)
1973
33
Rapid method for screening for galactosemia and galactokinase deficiency by measuring galactose in whole blood spotted on paper. (4350016)
1973
34
Galactokinase deficiency and cataract formation. (5074466)
1972
35
Galactokinase deficiency and cataracts. (5036447)
1972
36
Cataracts and galactokinase deficiency. (5033541)
1972
37
Galactokinase deficiency: clinical and biochemical findings in a new kindred. (5034870)
1972
38
Substrate induction of galactokinase in cultured fibroblasts from subjects heterozygous and homozygous for galactokinase deficiency. (5018641)
1972
39
Galactokinase-deficiency cataracts in identical twins. (4644736)
1972
40
Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred. (5553957)
1971
41
Galactokinase deficiency in a newborn infant. (5129188)
1971
42
Hereditary galactokinase deficiency. (5109408)
1971
43
A patient with hereditary galactokinase deficiency. (5482251)
1970
44
Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn. (5695665)
1968
45
Detection of heterozygotes for galactokinase deficiency in a human population. (5715186)
1968

Genetic Variations for Galactokinase Deficiency

Expression for genes affiliated with Galactokinase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Galactokinase Deficiency

Search GEO for disease gene expression data for Galactokinase Deficiency.

Pathways for genes affiliated with Galactokinase Deficiency

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore
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Pathways related to Galactokinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3GALT, GALK1
2
Hide members
9.3GALK1, GALT
38.8GALT, GALK1, GALK2
4
Hide members
8.8GALT, GALK1, GALK2
5
Galactose metabolism
Hide members
8.8GALT, GALK1, GALK2

Compounds for genes affiliated with Galactokinase Deficiency

Sources:
45Novoseek, 11DrugBank
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Compounds related to Galactokinase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1galactose-1-phosphate459.4GALT, GALK1
2udpglucose459.4GALT, GALK1
3lactose45 1110.3GALK1, GALT
4mannitol45 1110.2GALT, GALK1
5methionine459.0MGMT, GALT
6galactose459.0GALT, GALK1, GALK2
7glucose458.2MGMT, GALT, GALK1

GO Terms for genes affiliated with Galactokinase Deficiency

Sources:
16Gene Ontology
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Biological processes related to Galactokinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1galactose catabolic processGO:0193889.0GALT, GALK1
2carbohydrate metabolic processGO:0059758.8GALT, GALK1, GALK2
3galactose metabolic processGO:0060128.7GALT, GALK1, GALK2

Molecular functions related to Galactokinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1galactokinase activityGO:0043359.4GALK1, GALK2

Products for genes affiliated with Galactokinase Deficiency

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  • Lysates
  • Antibodies

Sources for Galactokinase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet