MCID: GLC004
MIFTS: 30

Galactokinase Deficiency malady

Summaries for Galactokinase Deficiency

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8Disease Ontology, 46OMIM, 32MalaCards
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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 galactosemia and cataract. 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 and testes.

Description from OMIM:46 230200

Aliases & Classifications for Galactokinase Deficiency

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8Disease Ontology, 60UMLS, 56SNOMED-CT, 34MeSH, 46OMIM
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Aliases & Descriptions:

galactokinase deficiency 8
deficiency of galactokinase 60
galactosemia ii 8


External Ids:

Disease Ontology8 DOID:14695
MeSH34 C535999
SNOMED-CT56 18612007, 124302001
OMIM46 230200

Related Diseases for Galactokinase Deficiency

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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
1galactosemia30.9GALT, GALK1
2cataract30.8GALT, GALK1
3epimerase deficiency galactosemia30.0GALT, GALK1
4galactokinase deficiency with cataracts10.4
5pseudotumor cerebri10.1
6hyperinsulinism10.1
7cerebritis10.0
8retinitis10.0
9ovarian cancer10.0GALT
10metabolic syndrome x10.0GALT, GALK1

Graphical network of diseases related to Galactokinase Deficiency:



Diseases related to galactokinase deficiency

Clinical Features for Galactokinase Deficiency

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46OMIM
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Clinical features from OMIM:

230200

Drugs & Therapeutics for Galactokinase Deficiency

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5CenterWatch, 41NIH 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

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Anatomical Context for Galactokinase Deficiency

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32MalaCards
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MalaCards organs/tissues related to Galactokinase Deficiency:

32
Whole blood, Testes

Animal Models for Galactokinase Deficiency or affiliated genes

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Publications for Galactokinase Deficiency

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50PubMed
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Articles related to Galactokinase Deficiency:

(show all 46)
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
Problems in the diagnosis of transferase and galactokinase deficient galactosemia. (7362195)
1980
24
Galactokinase deficiency and mental retardation. (490246)
1979
25
Phenotypic expression of galactokinase deficiency in heterozygous and homozygous subjects: in vivo and in vitro studies. (182297)
1976
26
Detection of inborn errors of metabolism. IV. Galactokinase deficiency. (170030)
1975
27
Letter: Additional findings in galactokinase deficiency. (171359)
1975
28
Galactokinase deficiency presenting as pseudotumor cerebri. (163306)
1975
29
Galactokinase deficiency in twins: clinical and biochemical studies. (4360930)
1974
30
Some inferences from galactokinase deficiency. (4360929)
1974
31
Galactose metabolism in a patient with hereditary galactokinase deficiency. (4365005)
1974
32
A fluorescent spot test for the detection of galactokinase deficiency. (4364011)
1974
33
Galactokinase deficiency as a cause of cataracts. (4700553)
1973
34
Rapid method for screening for galactosemia and galactokinase deficiency by measuring galactose in whole blood spotted on paper. (4350016)
1973
35
Galactokinase deficiency and cataract formation. (5074466)
1972
36
Galactokinase deficiency and cataracts. (5036447)
1972
37
Cataracts and galactokinase deficiency. (5033541)
1972
38
Galactokinase deficiency: clinical and biochemical findings in a new kindred. (5034870)
1972
39
Substrate induction of galactokinase in cultured fibroblasts from subjects heterozygous and homozygous for galactokinase deficiency. (5018641)
1972
40
Galactokinase-deficiency cataracts in identical twins. (4644736)
1972
41
Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred. (5553957)
1971
42
Galactokinase deficiency in a newborn infant. (5129188)
1971
43
Hereditary galactokinase deficiency. (5109408)
1971
44
A patient with hereditary galactokinase deficiency. (5482251)
1970
45
Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn. (5695665)
1968
46
Detection of heterozygotes for galactokinase deficiency in a human population. (5715186)
1968

Genetic Variations for Galactokinase Deficiency

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Expression for genes affiliated with Galactokinase Deficiency

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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

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53Reactome, 37NCBI BioSystems Database, 29KEGG, 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
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8.8GALT, GALK1, GALK2

Compounds for genes affiliated with Galactokinase Deficiency

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44Novoseek, 11DrugBank
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Compounds related to Galactokinase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1galactose-1-phosphate449.4GALT, GALK1
2udpglucose449.4GALT, GALK1
3lactose44 1110.3GALK1, GALT
4mannitol44 1110.2GALT, GALK1
5methionine449.0MGMT, GALT
6galactose449.0GALT, GALK1, GALK2
7glucose448.2MGMT, GALT, GALK1

GO Terms for genes affiliated with Galactokinase Deficiency

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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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  • Antibodies
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Sources for Galactokinase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet