GALCT2
MCID: GLC004
MIFTS: 45

Galactokinase Deficiency (GALCT2)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Galactokinase Deficiency

MalaCards integrated aliases for Galactokinase Deficiency:

Name: Galactokinase Deficiency 57 12 76 53 59 37 55 15 40
Galk Deficiency 57 53 59
Galactosemia Ii 57 12 75
Galactokinase Deficiency with Cataracts 57 13
Galactokinase Deficiency Galactosemia 53 59
Galactosemia Type 2 53 59
Galactosemias 44 73
Galk-D 53 59
Hereditary Galactokinase Deficiency 53
Deficiency of Galactokinase 73
Galactosemia 2 53
Galct2 75

Characteristics:

Orphanet epidemiological data:

59
galactokinase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
distinct disorder from galactosemia


HPO:

32
galactokinase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 230200
Disease Ontology 12 DOID:14695
ICD10 33 E74.29
MeSH 44 D005693
NCIt 50 C114767
SNOMED-CT 68 18612007
Orphanet 59 ORPHA79237
MESH via Orphanet 45 C535999
UMLS via Orphanet 74 C0268155 C0751158
ICD10 via Orphanet 34 E74.2
MedGen 42 C0268155
KEGG 37 H02009

Summaries for Galactokinase Deficiency

NIH Rare Diseases : 53 Galactokinase deficiency (GALK), a mild type of galactosemia, is an inherited disorder that impairs the body's ability to process and produce energy from a simple sugar called galactose. If babies with GALK eat foods containing galactose, undigested sugars build up in the blood. Galactose is present in many foods, including all dairy products, many baby formulas, and some fruits and vegetables. Children with GALK who are not treated with dietary therapy develop cataracts in the eyes, but otherwise they typically do not have long-term health problems. Rarely, a child with GALK will have pseudotumor cerebri, a condition which mimics the symptoms of a large brain tumor when no brain tumor is present. This is thought to be caused by increased pressure in the brain from cerebrospinal fluid (CSF) due to elevated levels of a galactose product in the CSF. The severe medical problems that occur with "classic" galactosemia (type 1), such as liver, kidney, and brain damage, typically are not present in people with GALK. GALK is caused by mutations in the GALK1 gene and inheritance is autosomal recessive. The disorder may be suspected in babies with an abnormal newborn screening result, or in babies with cataracts. The diagnosis can be confirmed with biochemical and molecular genetic testing. The treatment is dietary therapy, which involves taking calcium supplements and restricting galactose in the diet throughout life to prevent cataracts. If cataracts develop, they usually resolve with dietary therapy. Children with GALK should have their growth monitored, and both children and adults should consult with a dietitian and have regular eye exams. 

MalaCards based summary : Galactokinase Deficiency, also known as galk deficiency, is related to epimerase deficiency galactosemia and galactosemia. An important gene associated with Galactokinase Deficiency is GALK1 (Galactokinase 1), and among its related pathways/superpathways are Galactose metabolism and Glycosaminoglycan metabolism. Affiliated tissues include brain, eye and testes, and related phenotypes are cataract and impairment of galactose metabolism

Disease Ontology : 12 A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.

OMIM : 57 Galactokinase deficiency is an autosomal recessive disorder that causes cataract formation in children not maintained on a lactose-free diet. Cataract formation is the result of osmotic phenomena caused by the accumulation of galactitol in the lens (Asada et al., 1999). (230200)

UniProtKB/Swiss-Prot : 75 Galactosemia II: Autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.

Wikipedia : 76 Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is an autosomal... more...

Related Diseases for Galactokinase Deficiency

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

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 epimerase deficiency galactosemia 33.1 GALE GALK1 GALT
2 galactosemia 32.3 GALE GALK1 GALT
3 galactose epimerase deficiency 31.4 GALE GALK1 GALT
4 cataract 29.6 AKR1B1 GALK1 GALT
5 duarte variant galactosemia 12.6
6 classic galactosemia and clinical variant galactosemia 12.4
7 childhood apraxia of speech 11.4
8 generalized galactose epimerase deficiency 11.4
9 bile acid synthesis defect, congenital, 2 11.0
10 bile acid synthesis defect, congenital, 1 11.0
11 erythrocyte galactose epimerase deficiency 11.0
12 phenylketonuria 10.2
13 infantile liver failure syndrome 1 10.1
14 hypothyroidism 10.1
15 hypogonadism 10.1
16 fructose intolerance, hereditary 10.1
17 hemochromatosis, neonatal 10.1
18 premature ovarian failure 1 10.1
19 siderosis 10.1
20 hyperglycemia 10.1
21 neonatal hypothyroidism 10.1
22 intracranial hypertension, idiopathic 10.0
23 hyperinsulinemic hypoglycemia, familial, 3 10.0
24 hyperinsulinemic hypoglycemia, familial, 5 10.0
25 hyperinsulinemic hypoglycemia, familial, 4 10.0
26 hyperinsulinism 10.0
27 inherited metabolic disorder 10.0
28 biotinidase deficiency 10.0
29 alpha-1-antitrypsin deficiency 10.0
30 congenital hypothyroidism 10.0
31 cholestasis 10.0
32 biliary atresia 10.0
33 homocystinuria 10.0
34 encephalopathy 10.0
35 noonan syndrome 8 9.9 GALE GALK1
36 carbohydrate metabolic disorder 9.9 GALK1 GALT
37 schizophrenia 9.8
38 cystathioninuria 9.8
39 cystic fibrosis 9.8
40 maple syrup urine disease 9.8
41 peters-plus syndrome 9.8
42 adrenoleukodystrophy 9.8
43 citrullinemia, type ii, adult-onset 9.8
44 diabetic neuropathy 9.8
45 glycogen storage disease 9.8
46 hemophagocytic lymphohistiocytosis 9.8
47 hepatitis 9.8
48 hepatitis b 9.8
49 hydrocephalus 9.8
50 liver cirrhosis 9.8

Graphical network of the top 20 diseases related to Galactokinase Deficiency:



Diseases related to Galactokinase Deficiency

Symptoms & Phenotypes for Galactokinase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
galactosuria
galactosemia
decreased galactokinase activity

Neurologic Central Nervous System:
pseudotumor cerebri

Head And Neck Eyes:
cataracts, formation may be reversible with early dietary management


Clinical features from OMIM:

230200

Human phenotypes related to Galactokinase Deficiency:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
2 impairment of galactose metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004915
3 increased intracranial pressure 32 occasional (7.5%) HP:0002516
4 prolonged neonatal jaundice 32 HP:0006579
5 galactosuria 32 HP:0012023
6 hypergalactosemia 32 HP:0012024

GenomeRNAi Phenotypes related to Galactokinase Deficiency according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.7 GALE
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.7 MGMT
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.7 GALE
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.7 GALE
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.7 GALE
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.7 GALE
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.7 MGMT
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.7 MGMT
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.7 GALE MGMT
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.7 GALE
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.44 AKR1B1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.44 AKR1B1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.44 AKR1B1 GALE
14 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.44 AKR1B1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.44 GALE
16 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.44 GALE
17 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.44 GALE
18 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.44 GALE
19 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.44 AKR1B1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.44 AKR1B1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.44 AKR1B1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.44 GALE

Drugs & Therapeutics for Galactokinase Deficiency

Search Clinical Trials , NIH Clinical Center for Galactokinase Deficiency

Cochrane evidence based reviews: galactosemias

Genetic Tests for Galactokinase Deficiency

Anatomical Context for Galactokinase Deficiency

MalaCards organs/tissues related to Galactokinase Deficiency:

41
Brain, Eye, Testes, Kidney, Liver, Whole Blood

Publications for Galactokinase Deficiency

Articles related to Galactokinase Deficiency:

(show all 48)
# Title Authors Year
1
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data. ( 29580649 )
2018
2
Cataract and early nystagmus due to galactokinase deficiency. ( 28429145 )
2017
3
Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene. ( 22632133 )
2012
4
Galactokinase deficiency in a patient with congenital hyperinsulinism. ( 23430910 )
2012
5
Early cataract formation due to galactokinase deficiency: impact of newborn screening. ( 22154682 )
2011
6
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. ( 21290184 )
2011
7
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency. ( 17517531 )
2007
8
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. ( 15024738 )
2004
9
Galactokinase deficiency: a case report. ( 11859915 )
2002
10
Clinical features of galactokinase deficiency: a review of the literature. ( 12705493 )
2002
11
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. ( 11978884 )
2002
12
Novel mutations in the GALK1 gene in patients with galactokinase deficiency. ( 11139256 )
2001
13
Novel mutations in 13 probands with galactokinase deficiency. ( 10790206 )
2000
14
Molecular characterization of galactokinase deficiency in Japanese patients. ( 10570908 )
1999
15
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). ( 10521295 )
1999
16
[Galactokinase deficiency]. ( 9589978 )
1998
17
Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency. ( 1859354 )
1991
18
Cytosolic thymidine kinase activity in cultured human fibroblasts from individuals with galactokinase deficiency. ( 2775171 )
1989
19
Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency. ( 2516175 )
1989
20
Early morning urine galactitol levels in relation to galactose intake: a possible method of monitoring the diet in galactokinase deficiency. ( 3141712 )
1988
21
Thymidine kinase activity in individuals with galactokinase deficiency. ( 3631083 )
1987
22
Cataracts in patients heterozygous for galactokinase deficiency. ( 3949470 )
1986
23
Macular deposits in galactokinase deficiency. ( 3870945 )
1985
24
Thymidine-kinase activity of cultured cells from individuals with inherited galactokinase deficiency. ( 6475956 )
1984
25
Galactokinase deficiency and mental retardation. ( 490246 )
1979
26
Phenotypic expression of galactokinase deficiency in heterozygous and homozygous subjects: in vivo and in vitro studies. ( 182297 )
1976
27
Letter: Additional findings in galactokinase deficiency. ( 171359 )
1975
28
Detection of inborn errors of metabolism. IV. Galactokinase deficiency. ( 170030 )
1975
29
Galactokinase deficiency presenting as pseudotumor cerebri. ( 163306 )
1975
30
Galactokinase deficiency in twins: clinical and biochemical studies. ( 4360930 )
1974
31
A fluorescent spot test for the detection of galactokinase deficiency. ( 4364011 )
1974
32
Galactose metabolism in a patient with hereditary galactokinase deficiency. ( 4365005 )
1974
33
Some inferences from galactokinase deficiency. ( 4360929 )
1974
34
Letter: Galactokinase deficiency in twins. ( 4375802 )
1974
35
Rapid method for screening for galactosemia and galactokinase deficiency by measuring galactose in whole blood spotted on paper. ( 4350016 )
1973
36
Galactokinase deficiency as a cause of cataracts. ( 4700553 )
1973
37
Galactokinase deficiency and cataract formation. ( 5074466 )
1972
38
Galactokinase deficiency and cataracts. ( 5036447 )
1972
39
Substrate induction of galactokinase in cultured fibroblasts from subjects heterozygous and homozygous for galactokinase deficiency. ( 5018641 )
1972
40
Galactokinase deficiency: clinical and biochemical findings in a new kindred. ( 5034870 )
1972
41
Cataracts and galactokinase deficiency. ( 5033541 )
1972
42
Galactokinase-deficiency cataracts in identical twins. ( 4644736 )
1972
43
Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred. ( 5553957 )
1971
44
Hereditary galactokinase deficiency. ( 5109408 )
1971
45
Galactokinase deficiency in a newborn infant. ( 5129188 )
1971
46
A patient with hereditary galactokinase deficiency. ( 5482251 )
1970
47
Detection of heterozygotes for galactokinase deficiency in a human population. ( 5715186 )
1968
48
Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn. ( 5695665 )
1968

Variations for Galactokinase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Galactokinase Deficiency:

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 GALK1 p.Val32Met VAR_002547 rs104894576
2 GALK1 p.Pro28Thr VAR_008514 rs104894572
3 GALK1 p.Ala198Val VAR_015746 rs80084721
4 GALK1 p.Gly36Arg VAR_023486
5 GALK1 p.His44Tyr VAR_023487
6 GALK1 p.Arg68Cys VAR_023488
7 GALK1 p.Arg239Gln VAR_023490 rs575139300
8 GALK1 p.Thr288Met VAR_023492 rs759284637
9 GALK1 p.Gly346Ser VAR_023494 rs375690568
10 GALK1 p.Gly349Ser VAR_023495 rs754967473
11 GALK1 p.Ala384Pro VAR_023496

ClinVar genetic disease variations for Galactokinase Deficiency:

6 (show top 50) (show all 121)
# Gene Variation Type Significance SNP ID Assembly Location
1 GALK1 NM_000154.1(GALK1): c.94G> A (p.Val32Met) single nucleotide variant Uncertain significance rs104894576 GRCh37 Chromosome 17, 73761124: 73761124
2 GALK1 NM_000154.1(GALK1): c.94G> A (p.Val32Met) single nucleotide variant Uncertain significance rs104894576 GRCh38 Chromosome 17, 75765043: 75765043
3 GALK1 NM_000154.1(GALK1): c.238G> T (p.Glu80Ter) single nucleotide variant Pathogenic rs104894577 GRCh37 Chromosome 17, 73760095: 73760095
4 GALK1 NM_000154.1(GALK1): c.238G> T (p.Glu80Ter) single nucleotide variant Pathogenic rs104894577 GRCh38 Chromosome 17, 75764014: 75764014
5 GALK1 NM_000154.1(GALK1): c.82C> A (p.Pro28Thr) single nucleotide variant Pathogenic rs104894572 GRCh37 Chromosome 17, 73761136: 73761136
6 GALK1 NM_000154.1(GALK1): c.82C> A (p.Pro28Thr) single nucleotide variant Pathogenic rs104894572 GRCh38 Chromosome 17, 75765055: 75765055
7 GALK1 NM_000154.1(GALK1): c.1144C> T (p.Gln382Ter) single nucleotide variant Pathogenic rs111033608 GRCh37 Chromosome 17, 73754172: 73754172
8 GALK1 NM_000154.1(GALK1): c.1144C> T (p.Gln382Ter) single nucleotide variant Pathogenic rs111033608 GRCh38 Chromosome 17, 75758091: 75758091
9 GALK1 GALK1, 1-BP DEL, 761G deletion Pathogenic
10 GALK1 NM_000154.1(GALK1): c.593C> T (p.Ala198Val) single nucleotide variant Conflicting interpretations of pathogenicity rs80084721 GRCh37 Chromosome 17, 73759113: 73759113
11 GALK1 NM_000154.1(GALK1): c.593C> T (p.Ala198Val) single nucleotide variant Conflicting interpretations of pathogenicity rs80084721 GRCh38 Chromosome 17, 75763032: 75763032
12 GALK1 NM_000154.1(GALK1): c.189G> A (p.Leu63=) single nucleotide variant Benign/Likely benign rs7211385 GRCh37 Chromosome 17, 73760144: 73760144
13 GALK1 NM_000154.1(GALK1): c.189G> A (p.Leu63=) single nucleotide variant Benign/Likely benign rs7211385 GRCh38 Chromosome 17, 75764063: 75764063
14 GALK1 NM_000154.1(GALK1): c.863C> T (p.Thr288Met) single nucleotide variant Uncertain significance rs759284637 GRCh37 Chromosome 17, 73754611: 73754611
15 GALK1 NM_000154.1(GALK1): c.863C> T (p.Thr288Met) single nucleotide variant Uncertain significance rs759284637 GRCh38 Chromosome 17, 75758530: 75758530
16 GALK1; ITGB4 NM_000213.4(ITGB4): c.4521C> G (p.Pro1507=) single nucleotide variant Benign rs8669 GRCh37 Chromosome 17, 73750859: 73750859
17 GALK1; ITGB4 NM_000213.4(ITGB4): c.4521C> G (p.Pro1507=) single nucleotide variant Benign rs8669 GRCh38 Chromosome 17, 75754778: 75754778
18 GALK1; ITGB4 NM_000213.4(ITGB4): c.5336T> C (p.Leu1779Pro) single nucleotide variant Benign rs871443 GRCh38 Chromosome 17, 75757422: 75757422
19 GALK1; ITGB4 NM_000213.4(ITGB4): c.5336T> C (p.Leu1779Pro) single nucleotide variant Benign rs871443 GRCh37 Chromosome 17, 73753503: 73753503
20 GALK1 NM_000154.1(GALK1): c.1096C> T (p.Arg366Trp) single nucleotide variant Uncertain significance rs536478616 GRCh38 Chromosome 17, 75758221: 75758221
21 GALK1 NM_000154.1(GALK1): c.1096C> T (p.Arg366Trp) single nucleotide variant Uncertain significance rs536478616 GRCh37 Chromosome 17, 73754302: 73754302
22 GALK1 NM_000154.1(GALK1): c.840C> T (p.His280=) single nucleotide variant Uncertain significance rs375779311 GRCh38 Chromosome 17, 75758553: 75758553
23 GALK1 NM_000154.1(GALK1): c.840C> T (p.His280=) single nucleotide variant Uncertain significance rs375779311 GRCh37 Chromosome 17, 73754634: 73754634
24 GALK1 NM_000154.1(GALK1): c.165+6G> A single nucleotide variant Uncertain significance rs779996721 GRCh38 Chromosome 17, 75764966: 75764966
25 GALK1 NM_000154.1(GALK1): c.165+6G> A single nucleotide variant Uncertain significance rs779996721 GRCh37 Chromosome 17, 73761047: 73761047
26 GALK1 NM_000154.1(GALK1): c.*85C> T single nucleotide variant Uncertain significance rs542735255 GRCh38 Chromosome 17, 75757971: 75757971
27 GALK1 NM_000154.1(GALK1): c.*85C> T single nucleotide variant Uncertain significance rs542735255 GRCh37 Chromosome 17, 73754052: 73754052
28 GALK1 NM_000154.1(GALK1): c.1024C> T (p.Arg342Cys) single nucleotide variant Uncertain significance rs769167240 GRCh38 Chromosome 17, 75758293: 75758293
29 GALK1 NM_000154.1(GALK1): c.1024C> T (p.Arg342Cys) single nucleotide variant Uncertain significance rs769167240 GRCh37 Chromosome 17, 73754374: 73754374
30 GALK1; ITGB4 NM_001005731.2(ITGB4): c.*4C> T single nucleotide variant Likely benign rs189610725 GRCh38 Chromosome 17, 75757559: 75757559
31 GALK1; ITGB4 NM_001005731.2(ITGB4): c.*4C> T single nucleotide variant Likely benign rs189610725 GRCh37 Chromosome 17, 73753640: 73753640
32 GALK1; ITGB4 NM_000213.4(ITGB4): c.*25C> T single nucleotide variant Benign rs9367 GRCh38 Chromosome 17, 75757580: 75757580
33 GALK1; ITGB4 NM_000213.4(ITGB4): c.*25C> T single nucleotide variant Benign rs9367 GRCh37 Chromosome 17, 73753661: 73753661
34 GALK1 NM_000154.1(GALK1): c.1044C> T (p.Phe348=) single nucleotide variant Uncertain significance rs372653001 GRCh38 Chromosome 17, 75758273: 75758273
35 GALK1 NM_000154.1(GALK1): c.1044C> T (p.Phe348=) single nucleotide variant Uncertain significance rs372653001 GRCh37 Chromosome 17, 73754354: 73754354
36 GALK1 NM_000154.1(GALK1): c.856C> T (p.Arg286Trp) single nucleotide variant Uncertain significance rs370987432 GRCh38 Chromosome 17, 75758537: 75758537
37 GALK1 NM_000154.1(GALK1): c.856C> T (p.Arg286Trp) single nucleotide variant Uncertain significance rs370987432 GRCh37 Chromosome 17, 73754618: 73754618
38 GALK1 NM_000154.1(GALK1): c.787C> T (p.Leu263=) single nucleotide variant Uncertain significance rs886053420 GRCh38 Chromosome 17, 75762710: 75762710
39 GALK1 NM_000154.1(GALK1): c.787C> T (p.Leu263=) single nucleotide variant Uncertain significance rs886053420 GRCh37 Chromosome 17, 73758791: 73758791
40 GALK1 NM_000154.1(GALK1): c.786G> A (p.Glu262=) single nucleotide variant Uncertain significance rs756263074 GRCh38 Chromosome 17, 75762711: 75762711
41 GALK1 NM_000154.1(GALK1): c.786G> A (p.Glu262=) single nucleotide variant Uncertain significance rs756263074 GRCh37 Chromosome 17, 73758792: 73758792
42 GALK1 NM_000154.1(GALK1): c.-44C> T single nucleotide variant Uncertain significance rs758902207 GRCh38 Chromosome 17, 75765180: 75765180
43 GALK1 NM_000154.1(GALK1): c.-44C> T single nucleotide variant Uncertain significance rs758902207 GRCh37 Chromosome 17, 73761261: 73761261
44 GALK1; ITGB4 NM_001005731.2(ITGB4): c.4844-15A> G single nucleotide variant Benign rs8078247 GRCh37 Chromosome 17, 73753009: 73753009
45 GALK1; ITGB4 NM_001005731.2(ITGB4): c.4844-15A> G single nucleotide variant Benign rs8078247 GRCh38 Chromosome 17, 75756928: 75756928
46 GALK1 NM_000154.1(GALK1): c.*32C> T single nucleotide variant Uncertain significance rs116845474 GRCh38 Chromosome 17, 75758024: 75758024
47 GALK1 NM_000154.1(GALK1): c.*32C> T single nucleotide variant Uncertain significance rs116845474 GRCh37 Chromosome 17, 73754105: 73754105
48 GALK1 NM_000154.1(GALK1): c.995C> T (p.Ala332Val) single nucleotide variant Uncertain significance rs886053419 GRCh38 Chromosome 17, 75758322: 75758322
49 GALK1 NM_000154.1(GALK1): c.995C> T (p.Ala332Val) single nucleotide variant Uncertain significance rs886053419 GRCh37 Chromosome 17, 73754403: 73754403
50 GALK1 NM_000154.1(GALK1): c.746C> T (p.Ala249Val) single nucleotide variant Uncertain significance rs149825190 GRCh38 Chromosome 17, 75762751: 75762751

Expression for Galactokinase Deficiency

Search GEO for disease gene expression data for Galactokinase Deficiency.

Pathways for Galactokinase Deficiency

Pathways related to Galactokinase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Galactose metabolism hsa00052

GO Terms for Galactokinase Deficiency

Biological processes related to Galactokinase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.46 AKR1B1 GALE GALK1 GALT
2 galactose catabolic process via UDP-galactose GO:0033499 9.26 GALK1 GALT
3 galactose metabolic process GO:0006012 9.13 GALE GALK1 GALT
4 galactose catabolic process GO:0019388 8.8 GALE GALK1 GALT

Sources for Galactokinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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