GALCT
MCID: GLC006
MIFTS: 66

Galactosemia (GALCT)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Galactosemia

MalaCards integrated aliases for Galactosemia:

Name: Galactosemia 57 12 76 53 25 75 37 29 13 6 15 40
Galt Deficiency 57 53 25 59 75
Galactose-1-Phosphate Uridylyltransferase Deficiency 57 76 75
Deficiency of Galactokinase 29 6 73
Classic Galactosemia 53 25 59
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease 53 25
Galactose-1-Phosphate Uridyltransferase Deficiency 53 59
Classical Galactosemia 55 73
Galactosemia, Classic 57 53
Galactosemia Type 1 53 59
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency 25
Galactose-1-Phosphate Uridyl Transferase Deficiency 53
Galactose-1-Phosphate Uridyltranferase Deficiency 53
Udp-Galactose-4-Epimerase Deficiency Disease 25
Udpglucose 4-Epimerase Deficiency Disease 73
Galactose-1-Phosphate Uridyltransferase 13
Epimerase Deficiency Galactosemia 25
Galactokinase Deficiency Disease 25
Galactose Epimerase Deficiency 25
Udp Galactose-4-Epimerase 13
Galactose Intolerance 12
Galk Deficiency 25
Gale Deficiency 25
Galactosaemia 12
Galactosemias 73
Galct 75

Characteristics:

Orphanet epidemiological data:

59
classic galactosemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
high incidence of e. coli sepsis in untreated neonates


HPO:

32
galactosemia:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Galactosemia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79239Disease definitionClassic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.EpidemiologyGlobal prevalence is unknown but estimated annual incidence has been reported to be between 1/40,000 and 1/60,000 in Western countries. The disorder appears to be more common in the Caucasian population than in other ethnic groups but figures in other populations may be underestimated. Males and females are equally affected.Clinical descriptionWhen ingesting breast milk or lactose-containing formula, infants develop feeding problems, failure to thrive, and signs of liver damage (jaundice, bleeding tendency, hypoglycemia). In the absence of appropriate treatment (galactose restriction), sepsis (E-coli) and neonatal death may occur. Despite adequate treatment, long-term complications appear including cognitive impairments, motor deficits, ovarian dysfunction with reduced fertility in women and diminished bone density. Male fertility has not yet been thoroughly studied.EtiologyClassic galactosemia is caused by mutations in the GALT (9p13) gene encoding the galactose-1-phosphate uridyltransferase enzyme. Mutations that severely impair enzyme activity result in the classic galactosemia phenotype. The so-called variants are mutations associated with higher residual enzyme activity resulting in milder or no features of galactosemia such as the Duarte variant (GALT gene mutation).Diagnostic methodsIn many countries, infants are routinely screened for galactosemia at birth. When neonatal screening is not performed, diagnosis is based on the clinical picture. Diagnosis can be confirmed by assay of the relevant metabolites, enzyme activity and GALT gene mutational analysis.Differential diagnosisDifferential diagnoses include galactose epimerase deficiency and other diseases causing acute liver disease in the neonate.Antenatal diagnosisPrenatal testing is usually performed via gene mutation analysis by chorionic villus sampling. In at-risk relatives, testing is also possible to search for the mutation when already identified in a family.Genetic counselingGalactosemia follows an autosomal recessive pattern of inheritance. Parents of an affected child have a 25% chance of having affected children in subsequent pregnancies.Management and treatmentTreatment is based primarily on galactose restriction in the diet. Infants should be fed with soy formula or other lactose-free formula. Patients are advised to follow a lifelong diet. To prevent a diminished bone mass, calcium, vitamin D and vitamin K supplements are recommended if dietary intake does not meet the recommended daily allowance. Monitoring of cognitive and motor development, gonadal function and bone mass is mandatory. Eye examinations are recommended in case of neonatal cataracts or in case of poor dietary compliance. Despite dietary treatment long-term complications occur.PrognosisPrognosis is dependent on age of diagnosis, disease severity and compliance with dietary restrictions, which affects the onset and course of secondary complications.Visit the Orphanet disease page for more resources.

MalaCards based summary : Galactosemia, also known as galt deficiency, is related to epimerase deficiency galactosemia and galactokinase deficiency, and has symptoms including vomiting, diarrhea and icterus. An important gene associated with Galactosemia is GALT (Galactose-1-Phosphate Uridylyltransferase), and among its related pathways/superpathways are Galactose metabolism and Amino sugar and nucleotide sugar metabolism. The drugs Aspartic Acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and bone, and related phenotypes are intellectual disability and ataxia

Disease Ontology : 12 A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.

Genetics Home Reference : 25 Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.

OMIM : 57 Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006). (230400)

UniProtKB/Swiss-Prot : 75 Galactosemia: Inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation.

Wikipedia : 76 Galactosemia (British galactosaemia, from Greek γαλακ�?�?ζη + αίμα, meaning galactose + blood,... more...

Related Diseases for Galactosemia

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 epimerase deficiency galactosemia 33.6 GALE GALK1 GALT
2 galactokinase deficiency 33.6 GALE GALK1 GALT
3 galactose epimerase deficiency 33.3 GALE GALK1 GALT
4 duarte variant galactosemia 12.6
5 fructose and galactose intolerance 12.5
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 ovarian cancer 10.3
13 infertility 10.3
14 hepatoblastoma 10.3
15 phenylketonuria 10.2
16 fanconi-bickel syndrome 10.2
17 osteoarthritis 10.2
18 thrombocytopenia 10.2
19 noonan syndrome 8 10.2 GALE GALK1
20 infantile liver failure syndrome 1 10.1
21 hypothyroidism 10.1
22 hypogonadism 10.1
23 fructose intolerance, hereditary 10.1
24 hemochromatosis, neonatal 10.1
25 premature ovarian failure 1 10.1
26 siderosis 10.1
27 hyperglycemia 10.1
28 neonatal hypothyroidism 10.1
29 osteoporosis, juvenile 10.0 BGLAP CD36
30 osteofibrous dysplasia 10.0 BGLAP CD36
31 biotinidase deficiency 10.0
32 alpha-1-antitrypsin deficiency 10.0
33 cataract 10.0
34 congenital hypothyroidism 10.0
35 cholestasis 10.0
36 biliary atresia 10.0
37 homocystinuria 10.0
38 encephalopathy 10.0
39 fanconi syndrome 9.9
40 kwashiorkor 9.9
41 friedreich ataxia 1 9.9
42 patent ductus venosus 9.9
43 diabetes mellitus 9.9
44 lens subluxation 9.9
45 neonatal diabetes mellitus 9.9
46 myopia 9.9
47 aminoaciduria 9.9
48 fructose-1,6-bisphosphatase deficiency 9.9 ALDOB G6PC
49 glycogen storage disease ia 9.8 ALDOB G6PC GALK1
50 schizophrenia 9.8

Graphical network of the top 20 diseases related to Galactosemia:



Diseases related to Galactosemia

Symptoms & Phenotypes for Galactosemia

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly
decreased liver function, progressive
cirrhosis if untreated

Hematology:
hemolytic anemia

Genitourinary External Genitalia Female:
ovarian failure due to hypergonadotropic hypogonadism

Head And Neck Eyes:
cataract

Abdomen Gastrointestinal:
vomiting
diarrhea

Neurologic:
mental retardation if untreated
speech abnormality if untreated

Laboratory Abnormalities:
galactose-1-phosphate uridyltransferase deficiency
in untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria


Clinical features from OMIM:

230400

Human phenotypes related to Galactosemia:

59 32 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Frequent (79-30%) HP:0001249
2 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
4 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
5 tremor 59 32 frequent (33%) Occasional (29-5%) HP:0001337
6 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
7 nausea and vomiting 59 32 hallmark (90%) Frequent (79-30%) HP:0002017
8 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
9 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
10 hypoglycemia 59 32 occasional (7.5%) Very frequent (99-80%) HP:0001943
11 abnormal bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0001892
12 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
13 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
14 abnormality of the ovary 59 32 hallmark (90%) Very frequent (99-80%) HP:0000137
15 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
16 sepsis 59 32 frequent (33%) Occasional (29-5%) HP:0100806
17 hepatic failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0001399
18 lethargy 59 32 hallmark (90%) Occasional (29-5%) HP:0001254
19 decreased fertility in females 59 32 frequent (33%) Frequent (79-30%) HP:0000868
20 speech apraxia 59 32 occasional (7.5%) Frequent (79-30%) HP:0011098
21 speech articulation difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0009088
22 impairment of galactose metabolism 59 32 frequent (33%) Frequent (79-30%) HP:0004915
23 seizures 32 occasional (7.5%) HP:0001250
24 muscular hypotonia 32 frequent (33%) HP:0001252
25 global developmental delay 32 hallmark (90%) HP:0001263
26 hepatomegaly 32 frequent (33%) HP:0002240
27 microcephaly 32 occasional (7.5%) HP:0000252
28 visual impairment 32 occasional (7.5%) HP:0000505
29 feeding difficulties in infancy 32 hallmark (90%) HP:0008872
30 cognitive impairment 32 hallmark (90%) HP:0100543
31 renal insufficiency 32 occasional (7.5%) HP:0000083
32 vomiting 32 HP:0002013
33 aminoaciduria 32 HP:0003355
34 decreased liver function 32 HP:0001410
35 ascites 32 frequent (33%) HP:0001541
36 abnormality of movement 59 Occasional (29-5%)
37 hemolytic anemia 32 occasional (7.5%) HP:0001878
38 growth delay 32 frequent (33%) HP:0001510
39 premature ovarian insufficiency 32 HP:0008209
40 failure to thrive in infancy 32 hallmark (90%) HP:0001531
41 cirrhosis 32 HP:0001394
42 hypogonadotrophic hypogonadism 32 occasional (7.5%) HP:0000044
43 hypergonadotropic hypogonadism 32 HP:0000815
44 abnormality of the voice 32 frequent (33%) HP:0001608
45 diarrhea 32 HP:0002014
46 abnormality of coagulation 32 frequent (33%) HP:0001928
47 metabolic acidosis 32 HP:0001942
48 edema of the lower limbs 32 frequent (33%) HP:0010741
49 hyperchloremic metabolic acidosis 32 HP:0004918
50 neonatal death 59 Occasional (29-5%)

UMLS symptoms related to Galactosemia:


vomiting, diarrhea, icterus

GenomeRNAi Phenotypes related to Galactosemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 9.46 BGLAP CD36 G6PD IL11RA
2 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 9.35 AMH BGLAP GALK1 GALT IL11RA
3 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.17 AGA ALDOB AMH BGLAP GALE GALT

MGI Mouse Phenotypes related to Galactosemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 AGA ALDOB AMH CASP1 CD36 FSHB
2 liver/biliary system MP:0005370 9.43 AGA ALDOB CD36 G6PC GALT SLC25A13
3 mortality/aging MP:0010768 9.32 AGA ALDOB CASP1 CD36 G6PC G6PD

Drugs & Therapeutics for Galactosemia

Drugs for Galactosemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Aspartic Acid Phase 2
2 Neurotransmitter Agents Phase 2
3 arginine Phase 2
4 N-Methylaspartate Phase 2
5 Excitatory Amino Acid Agonists Phase 2
6 Excitatory Amino Acids Phase 2
7 Hormones Not Applicable
8 Follicle Stimulating Hormone Not Applicable
9 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
10 Hormone Antagonists Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Arginine on Classic Galactosemia Completed NCT03580122 Phase 2 Arginine Aspartate
2 Inactive FSH in Galactosemia Unknown status NCT00619333 Not Applicable follitropin and lutropin
3 Glycosylation in Patients With Galactosaemia Completed NCT02218632 Not Applicable
4 Intervention and Outcomes in Duarte Galactosemia Completed NCT02519504
5 Pregnancy Chances in Classic Galactosemia Completed NCT02091128
6 The Early History of Universal Screening for Metabolic Disorders Completed NCT00309400
7 Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland Recruiting NCT03534752

Search NIH Clinical Center for Galactosemia

Genetic Tests for Galactosemia

Genetic tests related to Galactosemia:

# Genetic test Affiliating Genes
1 Deficiency of Galactokinase 29 GALK1
2 Galactosemia 29

Anatomical Context for Galactosemia

MalaCards organs/tissues related to Galactosemia:

41
Liver, Testes, Bone, Eye, Breast, Brain, Ovary

Publications for Galactosemia

Articles related to Galactosemia:

(show top 50) (show all 677)
# Title Authors Year
1
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia. ( 29350350 )
2018
2
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). ( 29261178 )
2018
3
The evolution of a Web resource: The Galactosemia Proteins Database 2.0. ( 28961353 )
2018
4
Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia. ( 29721917 )
2018
5
Hereditary Galactosemia. ( 29409891 )
2018
6
GALT Deficiency Galactosemia. ( 29215431 )
2018
7
GALT Deficiency Galactosemia. ( 29215423 )
2018
8
Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia. ( 29892033 )
2018
9
Cryopreservation of ovarian tissue may be considered in young girls with galactosemia. ( 29804175 )
2018
10
Molecular basis and clinical presentation of classic galactosemia in a Croatian population. ( 29252199 )
2018
11
Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects. ( 29671189 )
2018
12
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2. ( 29893426 )
2018
13
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers. ( 29680633 )
2018
14
Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt. ( 30038819 )
2018
15
Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research. ( 30143026 )
2018
16
Effect of genotype on galactose-1-phosphate in classic galactosemia patients. ( 30172461 )
2018
17
A patient with classical galactosemia is graduated with a university degree. ( 30265653 )
2018
18
Biallelic GALM pathogenic variants cause a novel type of galactosemia. ( 30451973 )
2018
19
Type IV galactosemia. ( 30459459 )
2018
20
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. ( 30477550 )
2018
21
Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model. ( 28545161 )
2017
22
Classical galactosemia: Insight into molecular pathomechanisms by differential membrane proteomics of fibroblasts under galactose stress. ( 28075131 )
2017
23
Letter to the editor on "Evidence for dopaminergic denervation in classical galactosemia". ( 29082548 )
2017
24
Galactose 1 Phosphate Uridyltransferase Deficiency (Galactosemia) ( 28722986 )
2017
25
Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases. ( 28672748 )
2017
26
Evidence for dopaminergic denervation in classical galactosemia. ( 28370299 )
2017
27
Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases. ( 28693120 )
2017
28
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. ( 28078493 )
2017
29
Neonatal Screening: Cost-utility Analysis for Galactosemia. ( 28451536 )
2017
30
Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia. ( 28695375 )
2017
31
Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities. ( 28932969 )
2017
32
Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia. ( 28831125 )
2017
33
Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency. ( 27783170 )
2017
34
Sweet and sour: an update on classic galactosemia. ( 28281081 )
2017
35
Brain MRI in a patient with classical galactosemia: acute event of unilateral hemispheric cerebral edema. ( 28900716 )
2017
36
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family. ( 28450132 )
2017
37
Fertility in adult women with classic galactosemia and primary ovarian insufficiency. ( 28579413 )
2017
38
Vertically-Oriented and Shape-Tailored Electrocatalytic Metal Nanowire Arrays for Enzyme-Free Galactosemia Rapid Diagnosis. ( 28370567 )
2017
39
Impaired fertility and motor function in a zebrafish model for classic galactosemia. ( 28913702 )
2017
40
Drosophila melanogaster Models of Galactosemia. ( 28057307 )
2017
41
The galactose-induced decrease in phosphate levels leads to toxicity in yeast models of galactosemia. ( 28213126 )
2017
42
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. ( 27995581 )
2017
43
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. ( 28391442 )
2017
44
Grey matter density decreases as well as increases in patients with classic galactosemia: A voxel-based morphometry study. ( 27502028 )
2016
45
Evidence of oxidative stress in brain and liver of young rats submitted to experimental galactosemia. ( 27389247 )
2016
46
Clinical, molecular, and genetic evaluation of galactosemia in Turkish children. ( 28123333 )
2016
47
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models. ( 27466186 )
2016
48
Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes. ( 28065439 )
2016
49
The galactosemia network (GalNet). ( 27837294 )
2016
50
Gastrointestinal Health in Classic Galactosemia. ( 27363831 )
2016

Variations for Galactosemia

UniProtKB/Swiss-Prot genetic disease variations for Galactosemia:

75 (show top 50) (show all 134)
# Symbol AA change Variation ID SNP ID
1 GALT p.Asp28Tyr VAR_002548 rs111033636
2 GALT p.Ile32Asn VAR_002549 rs111033644
3 GALT p.Gln38Pro VAR_002550 rs111033646
4 GALT p.Val44Leu VAR_002551 rs111033647
5 GALT p.Val44Met VAR_002552 rs111033647
6 GALT p.Arg51Leu VAR_002553 rs111033648
7 GALT p.Gly55Cys VAR_002554 rs111033654
8 GALT p.Arg67Cys VAR_002556 rs111033658
9 GALT p.Leu74Pro VAR_002557 rs111033663
10 GALT p.Ala81Thr VAR_002558 rs111033665
11 GALT p.Asn97Ser VAR_002559 rs111033669
12 GALT p.Asp98Asn VAR_002560 rs111033670
13 GALT p.Asp113Asn VAR_002561 rs111033677
14 GALT p.His114Leu VAR_002562 rs111033678
15 GALT p.Phe117Ser VAR_002563 rs111033679
16 GALT p.Gln118His VAR_002564 rs111033673
17 GALT p.Arg123Gly VAR_002565 rs111033674
18 GALT p.Arg123Gln VAR_002566 rs111033675
19 GALT p.Val125Ala VAR_002567 rs111033680
20 GALT p.Lys127Glu VAR_002568 rs111033682
21 GALT p.Cys130Tyr VAR_002569 rs367543255
22 GALT p.His132Tyr VAR_002570 rs111033688
23 GALT p.Ser135Leu VAR_002571 rs111033690
24 GALT p.Thr138Met VAR_002572 rs111033686
25 GALT p.Leu139Pro VAR_002573 rs111033687
26 GALT p.Met142Lys VAR_002574 rs111033695
27 GALT p.Met142Val VAR_002575 rs111033692
28 GALT p.Ser143Leu VAR_002576 rs111033697
29 GALT p.Arg148Gly VAR_002577 rs111033693
30 GALT p.Arg148Gln VAR_002578 rs111033694
31 GALT p.Arg148Trp VAR_002579 rs111033693
32 GALT p.Val150Leu VAR_002580 rs111033699
33 GALT p.Val151Ala VAR_002581 rs111033701
34 GALT p.Trp154Gly VAR_002582 rs111033702
35 GALT p.Phe171Ser VAR_002583 rs111033715
36 GALT p.Gly179Asp VAR_002584 rs111033720
37 GALT p.Pro183Thr VAR_002585 rs111033721
38 GALT p.His184Gln VAR_002586 rs111033717
39 GALT p.Gln188Arg VAR_002587 rs75391579
40 GALT p.Ser192Asn VAR_002588 rs111033734
41 GALT p.Phe194Leu VAR_002589 rs111033726
42 GALT p.Leu195Pro VAR_002590 rs111033728
43 GALT p.Ile198Met VAR_002591 rs111033729
44 GALT p.Ile198Thr VAR_002592 rs148346135
45 GALT p.Ala199Thr VAR_002593 rs111033730
46 GALT p.Arg201His VAR_002594 rs111033735
47 GALT p.Glu203Lys VAR_002595 rs111033736
48 GALT p.Tyr209Cys VAR_002596 rs111033744
49 GALT p.Tyr209Ser VAR_002597 rs111033744
50 GALT p.Gln212His VAR_002598

ClinVar genetic disease variations for Galactosemia:

6 (show top 50) (show all 689)
# Gene Variation Type Significance SNP ID Assembly Location
1 GALT NM_000155.3(GALT): c.425T> A (p.Met142Lys) single nucleotide variant Pathogenic rs111033695 GRCh37 Chromosome 9, 34647876: 34647876
2 GALT NM_000155.3(GALT): c.425T> A (p.Met142Lys) single nucleotide variant Pathogenic rs111033695 GRCh38 Chromosome 9, 34647879: 34647879
3 GALT NM_000155.3(GALT): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs111033800 GRCh37 Chromosome 9, 34649499: 34649499
4 GALT NM_000155.3(GALT): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs111033800 GRCh38 Chromosome 9, 34649502: 34649502
5 GALT NM_000155.3(GALT): c.130G> A (p.Val44Met) single nucleotide variant Pathogenic rs111033647 GRCh37 Chromosome 9, 34647133: 34647133
6 GALT NM_000155.3(GALT): c.130G> A (p.Val44Met) single nucleotide variant Pathogenic rs111033647 GRCh38 Chromosome 9, 34647136: 34647136
7 GALT NM_000155.3(GALT): c.184C> A (p.Leu62Met) single nucleotide variant Benign rs1800461 GRCh37 Chromosome 9, 34647187: 34647187
8 GALT NM_000155.3(GALT): c.184C> A (p.Leu62Met) single nucleotide variant Benign rs1800461 GRCh38 Chromosome 9, 34647190: 34647190
9 GALT NM_000155.3(GALT): c.940A> G (p.Asn314Asp) single nucleotide variant Conflicting interpretations of pathogenicity, other rs2070074 GRCh37 Chromosome 9, 34649442: 34649442
10 GALT NM_000155.3(GALT): c.940A> G (p.Asn314Asp) single nucleotide variant Conflicting interpretations of pathogenicity, other rs2070074 GRCh38 Chromosome 9, 34649445: 34649445
11 GALT NM_000155.3(GALT): c.563A> G (p.Gln188Arg) single nucleotide variant Pathogenic rs75391579 GRCh37 Chromosome 9, 34648167: 34648167
12 GALT NM_000155.3(GALT): c.563A> G (p.Gln188Arg) single nucleotide variant Pathogenic rs75391579 GRCh38 Chromosome 9, 34648170: 34648170
13 GALT NM_000155.3(GALT): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs111033663 GRCh37 Chromosome 9, 34647224: 34647224
14 GALT NM_000155.3(GALT): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs111033663 GRCh38 Chromosome 9, 34647227: 34647227
15 GALT NM_000155.3(GALT): c.512T> C (p.Phe171Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033715 GRCh37 Chromosome 9, 34648116: 34648116
16 GALT NM_000155.3(GALT): c.512T> C (p.Phe171Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033715 GRCh38 Chromosome 9, 34648119: 34648119
17 GALT NM_000155.3(GALT): c.957C> A (p.His319Gln) single nucleotide variant Likely pathogenic rs111033792 GRCh37 Chromosome 9, 34649459: 34649459
18 GALT NM_000155.3(GALT): c.957C> A (p.His319Gln) single nucleotide variant Likely pathogenic rs111033792 GRCh38 Chromosome 9, 34649462: 34649462
19 GALT NM_000155.3(GALT): c.404C> T (p.Ser135Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111033690 GRCh37 Chromosome 9, 34647855: 34647855
20 GALT NM_000155.3(GALT): c.404C> T (p.Ser135Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111033690 GRCh38 Chromosome 9, 34647858: 34647858
21 GALT NM_000155.3(GALT): c.547C> A (p.Pro183Thr) single nucleotide variant Uncertain significance rs111033721 GRCh37 Chromosome 9, 34648151: 34648151
22 GALT NM_000155.3(GALT): c.547C> A (p.Pro183Thr) single nucleotide variant Uncertain significance rs111033721 GRCh38 Chromosome 9, 34648154: 34648154
23 GALT NM_000155.3(GALT): c.652C> T (p.Leu218=) single nucleotide variant Benign/Likely benign, other rs2070075 GRCh37 Chromosome 9, 34648418: 34648418
24 GALT NM_000155.3(GALT): c.652C> T (p.Leu218=) single nucleotide variant Benign/Likely benign, other rs2070075 GRCh38 Chromosome 9, 34648421: 34648421
25 GALT NM_000155.3(GALT): c.855G> T (p.Lys285Asn) single nucleotide variant Pathogenic rs111033773 GRCh37 Chromosome 9, 34649029: 34649029
26 GALT NM_000155.3(GALT): c.855G> T (p.Lys285Asn) single nucleotide variant Pathogenic rs111033773 GRCh38 Chromosome 9, 34649032: 34649032
27 GALT NM_000155.3(GALT): c.607G> A (p.Glu203Lys) single nucleotide variant Uncertain significance rs111033736 GRCh37 Chromosome 9, 34648373: 34648373
28 GALT NM_000155.3(GALT): c.607G> A (p.Glu203Lys) single nucleotide variant Uncertain significance rs111033736 GRCh38 Chromosome 9, 34648376: 34648376
29 GALT NM_000155.3(GALT): c.997C> G (p.Arg333Gly) single nucleotide variant Pathogenic rs111033800 GRCh37 Chromosome 9, 34649499: 34649499
30 GALT NM_000155.3(GALT): c.997C> G (p.Arg333Gly) single nucleotide variant Pathogenic rs111033800 GRCh38 Chromosome 9, 34649502: 34649502
31 GALT NM_000155.3(GALT): c.580T> C (p.Phe194Leu) single nucleotide variant Pathogenic rs111033726 GRCh37 Chromosome 9, 34648346: 34648346
32 GALT NM_000155.3(GALT): c.580T> C (p.Phe194Leu) single nucleotide variant Pathogenic rs111033726 GRCh38 Chromosome 9, 34648349: 34648349
33 GALT NG_009029.1: g.(?_4752)_(?_9014) deletion Pathogenic
34 GALT NG_009029.1: g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del] indel Pathogenic
35 GALT NM_000155.3(GALT): c.-67-52_-67-49delGTCA deletion Pathogenic rs111033640 GRCh37 Chromosome 9, 34646583: 34646586
36 GALT NM_000155.3(GALT): c.-67-52_-67-49delGTCA deletion Pathogenic rs111033640 GRCh38 Chromosome 9, 34646586: 34646589
37 GALT NM_000155.3(GALT): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs111033639 GRCh37 Chromosome 9, 34646702: 34646702
38 GALT NM_000155.3(GALT): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs111033639 GRCh38 Chromosome 9, 34646705: 34646705
39 GALT NM_000155.3(GALT): c.18delC (p.Asp7Ilefs) deletion Likely pathogenic rs111033638 GRCh37 Chromosome 9, 34646719: 34646719
40 GALT NM_000155.3(GALT): c.18delC (p.Asp7Ilefs) deletion Likely pathogenic rs111033638 GRCh38 Chromosome 9, 34646722: 34646722
41 GALT NM_000155.3(GALT): c.25C> T (p.Gln9Ter) single nucleotide variant Likely pathogenic rs111033848 GRCh37 Chromosome 9, 34646726: 34646726
42 GALT NM_000155.3(GALT): c.25C> T (p.Gln9Ter) single nucleotide variant Likely pathogenic rs111033848 GRCh38 Chromosome 9, 34646729: 34646729
43 GALT NM_000155.3(GALT): c.27G> C (p.Gln9His) single nucleotide variant Uncertain significance rs111033637 GRCh37 Chromosome 9, 34646728: 34646728
44 GALT NM_000155.3(GALT): c.27G> C (p.Gln9His) single nucleotide variant Uncertain significance rs111033637 GRCh38 Chromosome 9, 34646731: 34646731
45 GALT NM_000155.3(GALT): c.33C> T (p.Arg11=) single nucleotide variant Benign rs111033633 GRCh37 Chromosome 9, 34646734: 34646734
46 GALT NM_000155.3(GALT): c.33C> T (p.Arg11=) single nucleotide variant Benign rs111033633 GRCh38 Chromosome 9, 34646737: 34646737
47 GALT NM_000155.3(GALT): c.41delCinsTT (p.Ala14Valfs) indel Pathogenic/Likely pathogenic rs111033634 GRCh37 Chromosome 9, 34646742: 34646742
48 GALT NM_000155.3(GALT): c.41delCinsTT (p.Ala14Valfs) indel Pathogenic/Likely pathogenic rs111033634 GRCh38 Chromosome 9, 34646745: 34646745
49 GALT NM_000155.3(GALT): c.67A> G (p.Thr23Ala) single nucleotide variant Pathogenic rs111033635 GRCh37 Chromosome 9, 34646768: 34646768
50 GALT NM_000155.3(GALT): c.67A> G (p.Thr23Ala) single nucleotide variant Pathogenic rs111033635 GRCh38 Chromosome 9, 34646771: 34646771

Expression for Galactosemia

Search GEO for disease gene expression data for Galactosemia.

Pathways for Galactosemia

Pathways related to Galactosemia according to KEGG:

37
# Name Kegg Source Accession
1 Galactose metabolism hsa00052
2 Amino sugar and nucleotide sugar metabolism hsa00520

GO Terms for Galactosemia

Biological processes related to Galactosemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.62 G6PD GALE GALK1 GALT
2 response to organic cyclic compound GO:0014070 9.61 AMH BGLAP G6PD
3 response to food GO:0032094 9.48 G6PC G6PD
4 phosphate-containing compound metabolic process GO:0006796 9.46 G6PC IMPA1
5 gluconeogenesis GO:0006094 9.43 ALDOB G6PC SLC25A13
6 regulation of osteoclast differentiation GO:0045670 9.4 BGLAP FSHB
7 glucose 6-phosphate metabolic process GO:0051156 9.37 G6PC G6PD
8 galactose catabolic process via UDP-galactose GO:0033499 9.16 GALK1 GALT
9 galactose metabolic process GO:0006012 9.13 GALE GALK1 GALT
10 galactose catabolic process GO:0019388 8.8 GALE GALK1 GALT

Molecular functions related to Galactosemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.1 ALDOB CASP1 G6PD GALE IMPA1 SLC25A13
2 phosphotransferase activity, alcohol group as acceptor GO:0016773 8.96 G6PC GALK1

Sources for Galactosemia

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
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44 MeSH
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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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