MCID: GLC004
MIFTS: 33

Galactokinase Deficiency malady

Metabolic diseases category
Download this MalaCard

Summaries for Galactokinase Deficiency

About this section


Fully expand this MalaCard
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 based summary: 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:46 230200

Aliases & Classifications for Galactokinase Deficiency

About this section

Galactokinase Deficiency, Aliases & Descriptions:

Name: Galactokinase Deficiency 8
Deficiency of Galactokinase 62
 
Galactosemia Ii 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


External Ids:

Disease Ontology8 DOID:14695
MeSH34 C535999
SNOMED-CT57 124302001, 18612007
OMIM46 230200

Related Diseases for Galactokinase Deficiency

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1galactosemia31.0GALK1, GALT
2cataract30.7GALK1, GALT
3epimerase deficiency galactosemia30.1GALK1, GALT
4galactokinase deficiency with cataracts10.6
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

About this section


Clinical features from OMIM:

230200

Drugs & Therapeutics for Galactokinase Deficiency

About this section

Drug clinical trials:

Search ClinicalTrials for Galactokinase Deficiency

Search NIH Clinical Center for Galactokinase Deficiency

Genetic Tests for Galactokinase Deficiency

About this section

Anatomical Context for Galactokinase Deficiency

About this section

MalaCards organs/tissues related to Galactokinase Deficiency:

32
Whole blood, Testes

Animal Models for Galactokinase Deficiency or affiliated genes

About this section

Publications for Galactokinase Deficiency

About this section

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

About this section

Clinvar genetic disease variations for Galactokinase Deficiency:

6
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

About this section
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

About this section

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 I37
galactose degradation I (Leloir pathway)37
Cori Cycle37
8.8GALK2, GALT, GALK1
3
Show member pathways
8.8GALK2, GALT, GALK1
4
Show member pathways
colanic acid building blocks biosynthesis37
N-acetylglucosamine degradation I37
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)37
UDP-D-xylose and UDP-D-glucuronate biosynthesis37
N-acetylglucosamine degradation II37
UDP-N-acetyl-D-glucosamine biosynthesis II37
UDP-N-acetyl-D-galactosamine biosynthesis II37
GDP-L-fucose biosynthesis I (from GDP-D-mannose)37
8.8GALK2, GALK1, GALT

Compounds for genes affiliated with Galactokinase Deficiency

About this section
Sources:
24HMDB, 44Novoseek, 11DrugBank
See all sources

Compounds related to Galactokinase Deficiency according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1Galactose 1-phosphate249.6GALT, GALK1
2galactose-1-phosphate449.5GALK1, GALT
3udpglucose449.5GALT, GALK1
4lactose44 1110.5GALT, GALK1
5mannitol44 1110.4GALK1, GALT
6thymidine44 2410.1GALK1, MGMT
7glutamine449.0GALT, GALK1
8proline449.0MGMT, GALK1
9methionine449.0GALT, MGMT
10galactose449.0GALK2, GALT, GALK1
11glucose448.6GALT, GALK1, MGMT

GO Terms for genes affiliated with Galactokinase Deficiency

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Galactokinase Deficiency

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet