MCID: GLC004
MIFTS: 31

Galactokinase Deficiency malady

Summaries for Galactokinase Deficiency

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9Disease Ontology, 48OMIM, 34MalaCards
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Disease Ontology:9 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 VI - Maroteaux-Lamy syndrome and Galactose metabolism. The compounds Galactose 1-phosphate and galactose-1-phosphate have been mentioned in the context of this disorder. Affiliated tissues include whole blood and testes.

Description from OMIM:48 230200

Aliases & Classifications for Galactokinase Deficiency

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9Disease Ontology, 63UMLS, 36MeSH, 59SNOMED-CT, 48OMIM
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Aliases & Descriptions:

galactokinase deficiency 9
deficiency of galactokinase 63
galactosemia ii 9


External Ids:

Disease Ontology9 DOID:14695
MeSH36 C535999
SNOMED-CT59 124302001, 18612007
OMIM48 230200

Related Diseases for Galactokinase Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Galactokinase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1galactosemia31.0GALK1, GALT
2cataract30.9GALK1, GALT
3epimerase deficiency galactosemia30.1GALK1, GALT
4galactokinase deficiency with cataracts10.5
5hyperinsulinism10.1
6pseudotumor cerebri10.1
7mental retardation10.1
8cerebritis10.1
9retinitis10.1
10metabolic syndrome x10.0GALK1, GALT

Graphical network of diseases related to Galactokinase Deficiency:



Diseases related to galactokinase deficiency

Symptoms for Galactokinase Deficiency

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48OMIM
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Clinical features from OMIM:

230200

Drugs & Therapeutics for Galactokinase Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Galactokinase Deficiency:

34
Whole blood, Testes

Animal Models for Galactokinase Deficiency or affiliated genes

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Publications for Galactokinase Deficiency

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53PubMed
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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

Variations for Galactokinase Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Galactokinase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1GALK1NM_000154.1(GALK1): c.94G> A (p.Val32Met)single nucleotide variantPathogenicrs104894576GRCh37Chr 17, 73761124: 73761124
2GALK1NM_000154.1(GALK1): c.238G> T (p.Glu80Ter)single nucleotide variantPathogenicrs104894577GRCh37Chr 17, 73760095: 73760095
3GALK1NM_000154.1(GALK1): c.82C> A (p.Pro28Thr)single nucleotide variantPathogenicrs104894572GRCh37Chr 17, 73761136: 73761136
4GALK1NM_000154.1(GALK1): c.1144C> T (p.Gln382Ter)single nucleotide variantPathogenicrs111033608GRCh37Chr 17, 73754172: 73754172
5GALK1NM_000154.1(GALK1): c.593C> T (p.Ala198Val)single nucleotide variantPathogenicrs80084721GRCh37Chr 17, 73759113: 73759113

Expression for genes affiliated with Galactokinase Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Galactokinase Deficiency

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Pathways for genes affiliated with Galactokinase Deficiency

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51PathCards, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters, 31KEGG
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Pathways related to Galactokinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3GALT, GALK1
2
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I39
galactose degradation I (Leloir pathway)39
Cori Cycle39
8.8GALK2, GALT, GALK1
3
Show member pathways
8.8GALK2, GALT, GALK1
4
Show member pathways
colanic acid building blocks biosynthesis39
N-acetylglucosamine degradation I39
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)39
UDP-D-xylose and UDP-D-glucuronate biosynthesis39
N-acetylglucosamine degradation II39
UDP-N-acetyl-D-glucosamine biosynthesis II39
UDP-N-acetyl-D-galactosamine biosynthesis II39
GDP-L-fucose biosynthesis I (from GDP-D-mannose)39
8.8GALK1, GALT, GALK2

Compounds for genes affiliated with Galactokinase Deficiency

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25HMDB, 46Novoseek, 12DrugBank
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Compounds related to Galactokinase Deficiency according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1Galactose 1-phosphate259.6GALT, GALK1
2galactose-1-phosphate469.5GALK1, GALT
3udpglucose469.5GALT, GALK1
4lactose46 1210.5GALT, GALK1
5mannitol46 1210.4GALK1, GALT
6thymidine46 2510.1GALK1, MGMT
7glutamine469.0GALT, GALK1
8proline469.0MGMT, GALK1
9methionine469.0GALT, MGMT
10galactose469.0GALK2, GALT, GALK1
11glucose468.6GALT, GALK1, MGMT

GO Terms for genes affiliated with Galactokinase Deficiency

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17Gene 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:0059758.8GALK2, GALT, GALK1
3galactose metabolic processGO:0060128.7GALK2, GALT, GALK1

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

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

Products for genes affiliated with Galactokinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Galactokinase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet