GALCT
MCID: GLC006
MIFTS: 65

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 58 12 77 54 26 76 38 30 13 6 15 41
Galt Deficiency 58 54 26 60 76
Galactose-1-Phosphate Uridylyltransferase Deficiency 58 77 76
Deficiency of Galactokinase 30 6 74
Classic Galactosemia 54 26 60
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease 54 26
Galactose-1-Phosphate Uridyltransferase Deficiency 54 60
Classical Galactosemia 56 74
Galactosemia, Classic 58 54
Galactosemia Type 1 54 60
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency 26
Galactose-1-Phosphate Uridyl Transferase Deficiency 54
Galactose-1-Phosphate Uridyltranferase Deficiency 54
Udp-Galactose-4-Epimerase Deficiency Disease 26
Udpglucose 4-Epimerase Deficiency Disease 74
Galactose-1-Phosphate Uridyltransferase 13
Epimerase Deficiency Galactosemia 26
Galactokinase Deficiency Disease 26
Galactose Epimerase Deficiency 26
Udp Galactose-4-Epimerase 13
Galactose Intolerance 12
Galk Deficiency 26
Gale Deficiency 26
Galactosaemia 12
Galactosemias 74
Galct 76

Characteristics:

Orphanet epidemiological data:

60
classic galactosemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
galactosemia:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Galactosemia

NIH Rare Diseases : 54 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 N-Methylaspartate and arginine have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and bone, and related phenotypes are intellectual disability and nausea and vomiting

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 : 26 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 : 58 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 : 76 Galactosemia: Inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation.

Wikipedia : 77 Galactosemia (British galactosaemia, from Greek γαλακτόζη + 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 91)
# Related Disease Score Top Affiliating Genes
1 epimerase deficiency galactosemia 33.7 GALE GALK1 GALT
2 galactokinase deficiency 33.7 GALE GALK1 GALT
3 galactose epimerase deficiency 33.5 GALE GALK1 GALT
4 duarte variant galactosemia 12.7
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 11.1
10 bile acid synthesis defect, congenital, 1 11.1
11 erythrocyte galactose epimerase deficiency 11.1
12 ovarian cancer 10.3
13 infertility 10.3
14 hepatoblastoma 10.3
15 phenylketonuria 10.3
16 noonan syndrome 8 10.3 GALE GALK1
17 cataract 10.3
18 hypothyroidism 10.2
19 osteoarthritis 10.2
20 thrombocytopenia 10.2
21 fanconi-bickel syndrome 10.2
22 infantile liver failure syndrome 1 10.1
23 hypogonadism 10.1
24 neonatal hypothyroidism 10.1
25 hypogonadotropism 10.1
26 fructose intolerance, hereditary 10.1
27 hemochromatosis, neonatal 10.1
28 biotinidase deficiency 10.1
29 premature ovarian failure 1 10.1
30 congenital hypothyroidism 10.1
31 siderosis 10.1
32 hyperglycemia 10.1
33 carbohydrate metabolic disorder 10.0 G6PC GALK1 GALT
34 alpha-1-antitrypsin deficiency 10.0
35 cholestasis 10.0
36 biliary atresia 10.0
37 movement disease 10.0
38 homocystinuria 10.0
39 encephalopathy 10.0
40 multiple sclerosis 10.0
41 glycogen storage disease ia 10.0 G6PC GALK1
42 friedreich ataxia 1 9.9
43 patent ductus venosus 9.9
44 diabetes mellitus 9.9
45 lens subluxation 9.9
46 neonatal diabetes mellitus 9.9
47 myopia 9.9
48 aminoaciduria 9.9
49 chronic bilirubin encephalopathy 9.9
50 fanconi syndrome 9.9

Graphical network of the top 20 diseases related to Galactosemia:



Diseases related to Galactosemia

Symptoms & Phenotypes for Galactosemia

Human phenotypes related to Galactosemia:

60 33 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Frequent (79-30%) HP:0001249
2 nausea and vomiting 60 33 hallmark (90%) Frequent (79-30%) HP:0002017
3 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
4 hypoglycemia 60 33 occasional (7.5%) Very frequent (99-80%) HP:0001943
5 abnormal bleeding 60 33 hallmark (90%) Very frequent (99-80%) HP:0001892
6 weight loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0001824
7 abnormality of the ovary 60 33 hallmark (90%) Very frequent (99-80%) HP:0000137
8 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
9 hepatic failure 60 33 hallmark (90%) Very frequent (99-80%) HP:0001399
10 lethargy 60 33 hallmark (90%) Occasional (29-5%) HP:0001254
11 global developmental delay 33 hallmark (90%) HP:0001263
12 feeding difficulties in infancy 33 hallmark (90%) HP:0008872
13 cognitive impairment 33 hallmark (90%) HP:0100543
14 failure to thrive in infancy 33 hallmark (90%) HP:0001531
15 tremor 60 33 frequent (33%) Occasional (29-5%) HP:0001337
16 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
17 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
18 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
19 sepsis 60 33 frequent (33%) Occasional (29-5%) HP:0100806
20 decreased fertility in females 60 33 frequent (33%) Frequent (79-30%) HP:0000868
21 speech apraxia 60 33 occasional (7.5%) Frequent (79-30%) HP:0011098
22 speech articulation difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0009088
23 impairment of galactose metabolism 60 33 frequent (33%) Frequent (79-30%) HP:0004915
24 muscular hypotonia 33 frequent (33%) HP:0001252
25 hepatomegaly 33 frequent (33%) HP:0002240
26 ascites 33 frequent (33%) HP:0001541
27 growth delay 33 frequent (33%) HP:0001510
28 abnormality of the voice 33 frequent (33%) HP:0001608
29 abnormality of coagulation 33 frequent (33%) HP:0001928
30 pedal edema 33 frequent (33%) HP:0010741
31 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
32 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
33 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
34 seizures 33 occasional (7.5%) HP:0001250
35 microcephaly 33 occasional (7.5%) HP:0000252
36 visual impairment 33 occasional (7.5%) HP:0000505
37 renal insufficiency 33 occasional (7.5%) HP:0000083
38 hemolytic anemia 33 occasional (7.5%) HP:0001878
39 hypogonadotrophic hypogonadism 33 occasional (7.5%) HP:0000044
40 vomiting 33 HP:0002013
41 aminoaciduria 33 HP:0003355
42 decreased liver function 33 HP:0001410
43 abnormality of movement 60 Occasional (29-5%)
44 premature ovarian insufficiency 33 HP:0008209
45 cirrhosis 33 HP:0001394
46 hypergonadotropic hypogonadism 33 HP:0000815
47 diarrhea 33 HP:0002014
48 metabolic acidosis 33 HP:0001942
49 hyperchloremic metabolic acidosis 33 HP:0004918
50 neonatal death 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Galactosemia:


vomiting, diarrhea, icterus

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 9.1 AMH BGLAP CRYAA GALK1 GALT IL11RA

MGI Mouse Phenotypes related to Galactosemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.4 AGA AMH FSHB G6PC G6PD GALK1

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 N-Methylaspartate Phase 2
2 arginine Phase 2
3 Neurotransmitter Agents Phase 2
4 Aspartic Acid Phase 2
5 Excitatory Amino Acid Agonists Phase 2
6 Excitatory Amino Acids Phase 2
7 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
8 Hormone Antagonists Not Applicable
9 Follicle Stimulating Hormone Not Applicable
10 Hormones 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 Preventing Speech and Language Disorders in Children With Classic Galactosemia Recruiting NCT03838016 Not Applicable
8 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 30 GALK1
2 Galactosemia 30

Anatomical Context for Galactosemia

MalaCards organs/tissues related to Galactosemia:

42
Liver, Testes, Bone, Eye, Breast, Brain, Ovary

Publications for Galactosemia

Articles related to Galactosemia:

(show top 50) (show all 688)
# Title Authors Year
1
Web medical information produces anxiety in parents of infants with suspected galactosemia. ( 30753164 )
2019
2
Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia. ( 30808388 )
2019
3
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia. ( 30815886 )
2019
4
Classical galactosemia patients can achieve high IQ scores. ( 30875330 )
2019
5
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants. ( 30910422 )
2019
6
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. ( 30718057 )
2019
7
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia. ( 29350350 )
2018
8
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). ( 29261178 )
2018
9
The evolution of a Web resource: The Galactosemia Proteins Database 2.0. ( 28961353 )
2018
10
Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia. ( 29721917 )
2018
11
Hereditary Galactosemia. ( 29409891 )
2018
12
GALT Deficiency Galactosemia. ( 29215431 )
2018
13
GALT Deficiency Galactosemia. ( 29215423 )
2018
14
Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia. ( 29892033 )
2018
15
Cryopreservation of ovarian tissue may be considered in young girls with galactosemia. ( 29804175 )
2018
16
Molecular basis and clinical presentation of classic galactosemia in a Croatian population. ( 29252199 )
2018
17
Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects. ( 29671189 )
2018
18
Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2. ( 29893426 )
2018
19
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
20
Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia. ( 30593448 )
2018
21
Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt. ( 30038819 )
2018
22
Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research. ( 30143026 )
2018
23
Effect of genotype on galactose-1-phosphate in classic galactosemia patients. ( 30172461 )
2018
24
A patient with classical galactosemia is graduated with a university degree. ( 30265653 )
2018
25
Biallelic GALM pathogenic variants cause a novel type of galactosemia. ( 30451973 )
2018
26
Type IV galactosemia. ( 30459459 )
2018
27
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. ( 30477550 )
2018
28
Developmental Outcomes in Duarte Galactosemia. ( 30593450 )
2018
29
Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study. ( 30667068 )
2018
30
Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model. ( 28545161 )
2017
31
Classical galactosemia: Insight into molecular pathomechanisms by differential membrane proteomics of fibroblasts under galactose stress. ( 28075131 )
2017
32
Letter to the editor on "Evidence for dopaminergic denervation in classical galactosemia". ( 29082548 )
2017
33
Galactose 1 Phosphate Uridyltransferase Deficiency (Galactosemia) ( 28722986 )
2017
34
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
35
Evidence for dopaminergic denervation in classical galactosemia. ( 28370299 )
2017
36
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
37
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. ( 28078493 )
2017
38
Neonatal Screening: Cost-utility Analysis for Galactosemia. ( 28451536 )
2017
39
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
40
Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities. ( 28932969 )
2017
41
Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia. ( 28831125 )
2017
42
Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency. ( 27783170 )
2017
43
Sweet and sour: an update on classic galactosemia. ( 28281081 )
2017
44
Brain MRI in a patient with classical galactosemia: acute event of unilateral hemispheric cerebral edema. ( 28900716 )
2017
45
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family. ( 28450132 )
2017
46
Fertility in adult women with classic galactosemia and primary ovarian insufficiency. ( 28579413 )
2017
47
Vertically-Oriented and Shape-Tailored Electrocatalytic Metal Nanowire Arrays for Enzyme-Free Galactosemia Rapid Diagnosis. ( 28370567 )
2017
48
Impaired fertility and motor function in a zebrafish model for classic galactosemia. ( 28913702 )
2017
49
Drosophila melanogaster Models of Galactosemia. ( 28057307 )
2017
50
The galactose-induced decrease in phosphate levels leads to toxicity in yeast models of galactosemia. ( 28213126 )
2017

Variations for Galactosemia

UniProtKB/Swiss-Prot genetic disease variations for Galactosemia:

76 (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 658)
# Gene Variation Type Significance SNP ID Assembly Location
1 GALT NM_000155.3(GALT): c.445dupG (p.Ala149Glyfs) duplication Pathogenic rs786200978 GRCh37 Chromosome 9, 34647896: 34647896
2 GALT NM_000155.3(GALT): c.445dupG (p.Ala149Glyfs) duplication Pathogenic rs786200978 GRCh38 Chromosome 9, 34647899: 34647899
3 GALT NM_000155.3(GALT): c.775C> T (p.Arg259Trp) single nucleotide variant Pathogenic/Likely pathogenic rs786204763 GRCh38 Chromosome 9, 34648849: 34648849
4 GALT NM_000155.3(GALT): c.775C> T (p.Arg259Trp) single nucleotide variant Pathogenic/Likely pathogenic rs786204763 GRCh37 Chromosome 9, 34648846: 34648846
5 GALT NM_000155.3(GALT): c.1052delC (p.Pro351Leufs) deletion Pathogenic/Likely pathogenic rs111033813 GRCh37 Chromosome 9, 34649554: 34649554
6 GALT NM_000155.3(GALT): c.1052delC (p.Pro351Leufs) deletion Pathogenic/Likely pathogenic rs111033813 GRCh38 Chromosome 9, 34649557: 34649557
7 GALT NM_000155.3(GALT): c.572C> T (p.Ala191Val) single nucleotide variant Conflicting interpretations of pathogenicity rs794727838 GRCh37 Chromosome 9, 34648338: 34648338
8 GALT NM_000155.3(GALT): c.572C> T (p.Ala191Val) single nucleotide variant Conflicting interpretations of pathogenicity rs794727838 GRCh38 Chromosome 9, 34648341: 34648341
9 GALT NM_000155.3(GALT): c.200G> A (p.Arg67His) single nucleotide variant Uncertain significance rs758430398 GRCh37 Chromosome 9, 34647203: 34647203
10 GALT NM_000155.3(GALT): c.200G> A (p.Arg67His) single nucleotide variant Uncertain significance rs758430398 GRCh38 Chromosome 9, 34647206: 34647206
11 GALT NM_000155.3(GALT): c.367C> T (p.Arg123Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 34647695: 34647695
12 GALT NM_000155.3(GALT): c.367C> T (p.Arg123Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 34647692: 34647692
13 GALT NM_001258332.1(GALT): c.537C> T (p.Asn179=) single nucleotide variant Uncertain significance rs372134800 GRCh37 Chromosome 9, 34649038: 34649038
14 GALT NM_001258332.1(GALT): c.537C> T (p.Asn179=) single nucleotide variant Uncertain significance rs372134800 GRCh38 Chromosome 9, 34649041: 34649041
15 GALT NM_000155.3(GALT): c.425T> A (p.Met142Lys) single nucleotide variant Pathogenic rs111033695 GRCh37 Chromosome 9, 34647876: 34647876
16 GALT NM_000155.3(GALT): c.425T> A (p.Met142Lys) single nucleotide variant Pathogenic rs111033695 GRCh38 Chromosome 9, 34647879: 34647879
17 GALT NM_000155.3(GALT): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs111033800 GRCh37 Chromosome 9, 34649499: 34649499
18 GALT NM_000155.3(GALT): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs111033800 GRCh38 Chromosome 9, 34649502: 34649502
19 GALT NM_000155.3(GALT): c.130G> A (p.Val44Met) single nucleotide variant Pathogenic rs111033647 GRCh37 Chromosome 9, 34647133: 34647133
20 GALT NM_000155.3(GALT): c.130G> A (p.Val44Met) single nucleotide variant Pathogenic rs111033647 GRCh38 Chromosome 9, 34647136: 34647136
21 GALT NM_000155.3(GALT): c.184C> A (p.Leu62Met) single nucleotide variant Benign rs1800461 GRCh37 Chromosome 9, 34647187: 34647187
22 GALT NM_000155.3(GALT): c.184C> A (p.Leu62Met) single nucleotide variant Benign rs1800461 GRCh38 Chromosome 9, 34647190: 34647190
23 GALT NM_000155.3(GALT): c.940A> G (p.Asn314Asp) single nucleotide variant Conflicting interpretations of pathogenicity, other rs2070074 GRCh37 Chromosome 9, 34649442: 34649442
24 GALT NM_000155.3(GALT): c.940A> G (p.Asn314Asp) single nucleotide variant Conflicting interpretations of pathogenicity, other rs2070074 GRCh38 Chromosome 9, 34649445: 34649445
25 GALT NM_000155.3(GALT): c.563A> G (p.Gln188Arg) single nucleotide variant Pathogenic rs75391579 GRCh37 Chromosome 9, 34648167: 34648167
26 GALT NM_000155.3(GALT): c.563A> G (p.Gln188Arg) single nucleotide variant Pathogenic rs75391579 GRCh38 Chromosome 9, 34648170: 34648170
27 GALT NM_000155.3(GALT): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs111033663 GRCh37 Chromosome 9, 34647224: 34647224
28 GALT NM_000155.3(GALT): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs111033663 GRCh38 Chromosome 9, 34647227: 34647227
29 GALT NM_000155.3(GALT): c.512T> C (p.Phe171Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033715 GRCh37 Chromosome 9, 34648116: 34648116
30 GALT NM_000155.3(GALT): c.512T> C (p.Phe171Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033715 GRCh38 Chromosome 9, 34648119: 34648119
31 GALT NM_000155.3(GALT): c.957C> A (p.His319Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033792 GRCh37 Chromosome 9, 34649459: 34649459
32 GALT NM_000155.3(GALT): c.957C> A (p.His319Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033792 GRCh38 Chromosome 9, 34649462: 34649462
33 GALT NM_000155.3(GALT): c.404C> T (p.Ser135Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111033690 GRCh37 Chromosome 9, 34647855: 34647855
34 GALT NM_000155.3(GALT): c.404C> T (p.Ser135Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111033690 GRCh38 Chromosome 9, 34647858: 34647858
35 GALT NM_000155.3(GALT): c.547C> A (p.Pro183Thr) single nucleotide variant Uncertain significance rs111033721 GRCh37 Chromosome 9, 34648151: 34648151
36 GALT NM_000155.3(GALT): c.547C> A (p.Pro183Thr) single nucleotide variant Uncertain significance rs111033721 GRCh38 Chromosome 9, 34648154: 34648154
37 GALT NM_000155.3(GALT): c.652C> T (p.Leu218=) single nucleotide variant Benign/Likely benign, other rs2070075 GRCh37 Chromosome 9, 34648418: 34648418
38 GALT NM_000155.3(GALT): c.652C> T (p.Leu218=) single nucleotide variant Benign/Likely benign, other rs2070075 GRCh38 Chromosome 9, 34648421: 34648421
39 GALT NM_000155.3(GALT): c.855G> T (p.Lys285Asn) single nucleotide variant Pathogenic rs111033773 GRCh37 Chromosome 9, 34649029: 34649029
40 GALT NM_000155.3(GALT): c.855G> T (p.Lys285Asn) single nucleotide variant Pathogenic rs111033773 GRCh38 Chromosome 9, 34649032: 34649032
41 GALT NM_000155.3(GALT): c.607G> A (p.Glu203Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs111033736 GRCh37 Chromosome 9, 34648373: 34648373
42 GALT NM_000155.3(GALT): c.607G> A (p.Glu203Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs111033736 GRCh38 Chromosome 9, 34648376: 34648376
43 GALT NM_000155.3(GALT): c.997C> G (p.Arg333Gly) single nucleotide variant Pathogenic rs111033800 GRCh37 Chromosome 9, 34649499: 34649499
44 GALT NM_000155.3(GALT): c.997C> G (p.Arg333Gly) single nucleotide variant Pathogenic rs111033800 GRCh38 Chromosome 9, 34649502: 34649502
45 GALT NM_000155.3(GALT): c.580T> C (p.Phe194Leu) single nucleotide variant Pathogenic rs111033726 GRCh37 Chromosome 9, 34648346: 34648346
46 GALT NM_000155.3(GALT): c.580T> C (p.Phe194Leu) single nucleotide variant Pathogenic rs111033726 GRCh38 Chromosome 9, 34648349: 34648349
47 GALT NG_009029.1: g.(?_4752)_(?_9014) deletion Pathogenic
48 GALT NG_009029.1: g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del] indel Pathogenic
49 GALT NM_000155.3(GALT): c.-67-52_-67-49delGTCA deletion Conflicting interpretations of pathogenicity, other rs111033640 GRCh37 Chromosome 9, 34646583: 34646586
50 GALT NM_000155.3(GALT): c.-67-52_-67-49delGTCA deletion Conflicting interpretations of pathogenicity, other rs111033640 GRCh38 Chromosome 9, 34646586: 34646589

Expression for Galactosemia

Search GEO for disease gene expression data for Galactosemia.

Pathways for Galactosemia

Pathways related to Galactosemia according to KEGG:

38
# Name Kegg Source Accession
1 Galactose metabolism hsa00052
2 Amino sugar and nucleotide sugar metabolism hsa00520

GO Terms for Galactosemia

Cellular components related to Galactosemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 8.8 BGLAP IL1B TF

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.62 G6PD GALE GALK1 GALT
2 positive regulation of vascular endothelial growth factor production GO:0010575 9.52 IL1B NOX1
3 response to food GO:0032094 9.51 G6PC G6PD
4 phosphate-containing compound metabolic process GO:0006796 9.49 G6PC IMPA1
5 response to ethanol GO:0045471 9.46 BGLAP G6PD
6 regulation of osteoclast differentiation GO:0045670 9.43 BGLAP FSHB
7 glucose 6-phosphate metabolic process GO:0051156 9.4 G6PC G6PD
8 NADP metabolic process GO:0006739 9.37 G6PD NOX1
9 response to organic cyclic compound GO:0014070 9.33 AMH BGLAP G6PD
10 galactose catabolic process via UDP-galactose GO:0033499 9.26 GALK1 GALT
11 response to vitamin D GO:0033280 9.18 BGLAP
12 galactose metabolic process GO:0006012 9.13 GALE GALK1 GALT
13 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 phosphotransferase activity, alcohol group as acceptor GO:0016773 8.62 G6PC GALK1

Sources for Galactosemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....