MCID: GLC006
MIFTS: 65

Galactosemia

Categories: Genetic diseases, Rare diseases, Eye diseases, Liver diseases, Nephrological diseases, Reproductive diseases, Metabolic diseases, Endocrine 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
Galactose-1-Phosphate Uridyltransferase Deficiency 53 59
Classical Galactosemia 55 73
Galactosemia, Classic 57 53
Classic Galactosemia 25 59
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease 25
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency 25
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
Galactosemia Type 1 59
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 Galactosemia, which means “galactose in the blood”, is a rare inherited condition. People with galactosemia have problems digesting a type of sugar called galactose from the food they eat. Because they cannot break galactose down properly, it builds up in their blood. Galactose is found in milk and all foods that contain milk. Galactosemia occurs when an enzyme, called ‘galactose-1-phosphate uridyl transferase’ (GALT), is either missing or not working properly. Without enough GALT enzyme activity, galactose cannot be changed to glucose so it builds up in the blood in large amounts. There are different types of galactosemia: classic galactosemia (also known as type I, is the most common and most severe form of the condition), galactosemia type II (also called galactokinase deficiency), and type III (also called galactose epimerase deficiency). The different types of galactosemia are caused by mutations in the GALT, GALE, and GALK1 genes. The condition is inherited in an autosomal recessive fashion.

MalaCards based summary : Galactosemia, also known as galt deficiency, is related to epimerase deficiency galactosemia and galactokinase deficiency, and has symptoms including diarrhea, vomiting 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 Follicle Stimulating Hormone and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and brain, and related phenotypes are intellectual disability and ataxia

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.

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.

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.

Wikipedia : 76 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 79)
# Related Disease Score Top Affiliating Genes
1 epimerase deficiency galactosemia 33.8 GALE GALK1 GALT
2 galactokinase deficiency 33.7 GALE GALK1 GALT
3 galactose epimerase deficiency 33.5 GALE GALK1 GALT
4 duarte variant galactosemia 12.5
5 fructose and galactose intolerance 12.3
6 classic galactosemia and clinical variant galactosemia 12.2
7 fanconi-bickel syndrome 11.4
8 childhood apraxia of speech 11.2
9 generalized galactose epimerase deficiency 11.2
10 bile acid synthesis defect, congenital, 2 10.9
11 bile acid synthesis defect, congenital, 1 10.9
12 erythrocyte galactose epimerase deficiency 10.9
13 retinitis 10.2
14 phenylketonuria 10.1
15 cerebritis 10.1
16 aging 10.0
17 cataract 10.0
18 hepatitis 10.0
19 hypothyroidism 10.0
20 infantile liver failure syndrome 1 10.0
21 hypogonadism 10.0
22 neonatal hypothyroidism 10.0
23 fructose intolerance, hereditary 9.9
24 hemochromatosis, neonatal 9.9
25 biotinidase deficiency 9.9
26 premature ovarian failure 1 9.9
27 congenital hypothyroidism 9.9
28 siderosis 9.9
29 hyperglycemia 9.9
30 type i 9.9
31 fanconi syndrome 9.8
32 alpha-1-antitrypsin deficiency 9.8
33 cholestasis 9.8
34 biliary atresia 9.8
35 homocystinuria 9.8
36 encephalopathy 9.8
37 endotheliitis 9.8
38 glycogen storage disease ia 9.7 ALDOB G6PC
39 folic acid deficiency anemia 9.7 GIF TF
40 schizophrenia 9.7
41 cystathioninuria 9.7
42 cystic fibrosis 9.7
43 intracranial hypertension, idiopathic 9.7
44 maple syrup urine disease 9.7
45 peters-plus syndrome 9.7
46 adrenoleukodystrophy 9.7
47 citrullinemia, type ii, adult-onset 9.7
48 congenital disorder of glycosylation, type in 9.7
49 diabetic neuropathy 9.7
50 hemophagocytic lymphohistiocytosis 9.7

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 56)
# 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:


diarrhea, vomiting, icterus

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 9.35 AMH BGLAP GALK1 GALT IL11RA
2 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.23 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 9.4 AGA ALDOB AMH FSHB G6PC G6PD

Drugs & Therapeutics for Galactosemia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Follicle Stimulating Hormone Not Applicable
2 Hormone Antagonists Not Applicable
3 Hormones Not Applicable
4 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Arginine on Classic Galactosemia Active, not recruiting 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, Brain, Bone, Eye, Ovary, Cortex

Publications for Galactosemia

Articles related to Galactosemia:

(show top 50) (show all 590)
# 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
Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model. ( 28545161 )
2017
15
Classical galactosemia: Insight into molecular pathomechanisms by differential membrane proteomics of fibroblasts under galactose stress. ( 28075131 )
2017
16
Galactose 1 Phosphate Uridyltransferase Deficiency (Galactosemia) ( 28722986 )
2017
17
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
18
Evidence for dopaminergic denervation in classical galactosemia. ( 28370299 )
2017
19
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
20
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. ( 28078493 )
2017
21
Neonatal Screening: Cost-utility Analysis for Galactosemia. ( 28451536 )
2017
22
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
23
Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities. ( 28932969 )
2017
24
Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia. ( 28831125 )
2017
25
Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency. ( 27783170 )
2017
26
Sweet and sour: an update on classic galactosemia. ( 28281081 )
2017
27
Brain MRI in a patient with classical galactosemia: acute event of unilateral hemispheric cerebral edema. ( 28900716 )
2017
28
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family. ( 28450132 )
2017
29
Fertility in adult women with classic galactosemia and primary ovarian insufficiency. ( 28579413 )
2017
30
Vertically-Oriented and Shape-Tailored Electrocatalytic Metal Nanowire Arrays for Enzyme-Free Galactosemia Rapid Diagnosis. ( 28370567 )
2017
31
Impaired fertility and motor function in a zebrafish model for classic galactosemia. ( 28913702 )
2017
32
Drosophila melanogaster Models of Galactosemia. ( 28057307 )
2017
33
The galactose-induced decrease in phosphate levels leads to toxicity in yeast models of galactosemia. ( 28213126 )
2017
34
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. ( 28391442 )
2017
35
Grey matter density decreases as well as increases in patients with classic galactosemia: A voxel-based morphometry study. ( 27502028 )
2016
36
Evidence of oxidative stress in brain and liver of young rats submitted to experimental galactosemia. ( 27389247 )
2016
37
Clinical, molecular, and genetic evaluation of galactosemia in Turkish children. ( 28123333 )
2016
38
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models. ( 27466186 )
2016
39
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
40
The galactosemia network (GalNet). ( 27837294 )
2016
41
Gastrointestinal Health in Classic Galactosemia. ( 27363831 )
2016
42
Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center. ( 26840667 )
2016
43
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations. ( 27176039 )
2016
44
Teaching NeuroImages: Galactitol peak and fatal cerebral edema in classic galactosemia: Too much sugar in the brain. ( 26783274 )
2016
45
Classic Galactosemia: Indian Scenario. ( 26840665 )
2016
46
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase. ( 27005423 )
2016
47
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation. ( 27562100 )
2016
48
Liver Failure, Hepatic Siderosis, and Membrane Attack Complexes: Neonatal Hemochromatosis and/or Galactosemia?: RETRACTED. ( 27403610 )
2016
49
Galactosemia , A Not to be Missed Inborn Error of Metabolism. ( 26840664 )
2016
50
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. ( 27858262 )
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
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 569)
# 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.563A> G (p.Gln188Arg) single nucleotide variant Pathogenic rs75391579 GRCh37 Chromosome 9, 34648167: 34648167
8 GALT NM_000155.3(GALT): c.563A> G (p.Gln188Arg) single nucleotide variant Pathogenic rs75391579 GRCh38 Chromosome 9, 34648170: 34648170
9 GALT NM_000155.3(GALT): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs111033663 GRCh37 Chromosome 9, 34647224: 34647224
10 GALT NM_000155.3(GALT): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs111033663 GRCh38 Chromosome 9, 34647227: 34647227
11 GALT NM_000155.3(GALT): c.512T> C (p.Phe171Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033715 GRCh37 Chromosome 9, 34648116: 34648116
12 GALT NM_000155.3(GALT): c.512T> C (p.Phe171Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033715 GRCh38 Chromosome 9, 34648119: 34648119
13 GALT NM_000155.3(GALT): c.957C> A (p.His319Gln) single nucleotide variant Likely pathogenic rs111033792 GRCh37 Chromosome 9, 34649459: 34649459
14 GALT NM_000155.3(GALT): c.957C> A (p.His319Gln) single nucleotide variant Likely pathogenic rs111033792 GRCh38 Chromosome 9, 34649462: 34649462
15 GALT NM_000155.3(GALT): c.404C> T (p.Ser135Leu) single nucleotide variant Pathogenic rs111033690 GRCh37 Chromosome 9, 34647855: 34647855
16 GALT NM_000155.3(GALT): c.404C> T (p.Ser135Leu) single nucleotide variant Pathogenic rs111033690 GRCh38 Chromosome 9, 34647858: 34647858
17 GALT NM_000155.3(GALT): c.547C> A (p.Pro183Thr) single nucleotide variant Pathogenic rs111033721 GRCh37 Chromosome 9, 34648151: 34648151
18 GALT NM_000155.3(GALT): c.547C> A (p.Pro183Thr) single nucleotide variant Pathogenic rs111033721 GRCh38 Chromosome 9, 34648154: 34648154
19 GALT NM_000155.3(GALT): c.855G> T (p.Lys285Asn) single nucleotide variant Pathogenic rs111033773 GRCh37 Chromosome 9, 34649029: 34649029
20 GALT NM_000155.3(GALT): c.855G> T (p.Lys285Asn) single nucleotide variant Pathogenic rs111033773 GRCh38 Chromosome 9, 34649032: 34649032
21 GALT NM_000155.3(GALT): c.607G> A (p.Glu203Lys) single nucleotide variant Pathogenic rs111033736 GRCh37 Chromosome 9, 34648373: 34648373
22 GALT NM_000155.3(GALT): c.607G> A (p.Glu203Lys) single nucleotide variant Pathogenic rs111033736 GRCh38 Chromosome 9, 34648376: 34648376
23 GALT NM_000155.3(GALT): c.997C> G (p.Arg333Gly) single nucleotide variant Pathogenic rs111033800 GRCh37 Chromosome 9, 34649499: 34649499
24 GALT NM_000155.3(GALT): c.997C> G (p.Arg333Gly) single nucleotide variant Pathogenic rs111033800 GRCh38 Chromosome 9, 34649502: 34649502
25 GALT NM_000155.3(GALT): c.580T> C (p.Phe194Leu) single nucleotide variant Pathogenic rs111033726 GRCh37 Chromosome 9, 34648346: 34648346
26 GALT NM_000155.3(GALT): c.580T> C (p.Phe194Leu) single nucleotide variant Pathogenic rs111033726 GRCh38 Chromosome 9, 34648349: 34648349
27 GALK1 NM_000154.1(GALK1): c.94G> A (p.Val32Met) single nucleotide variant Pathogenic rs104894576 GRCh37 Chromosome 17, 73761124: 73761124
28 GALK1 NM_000154.1(GALK1): c.94G> A (p.Val32Met) single nucleotide variant Pathogenic rs104894576 GRCh38 Chromosome 17, 75765043: 75765043
29 GALK1 NM_000154.1(GALK1): c.238G> T (p.Glu80Ter) single nucleotide variant Pathogenic rs104894577 GRCh37 Chromosome 17, 73760095: 73760095
30 GALK1 NM_000154.1(GALK1): c.238G> T (p.Glu80Ter) single nucleotide variant Pathogenic rs104894577 GRCh38 Chromosome 17, 75764014: 75764014
31 GALK1 NM_000154.1(GALK1): c.82C> A (p.Pro28Thr) single nucleotide variant Pathogenic rs104894572 GRCh37 Chromosome 17, 73761136: 73761136
32 GALK1 NM_000154.1(GALK1): c.82C> A (p.Pro28Thr) single nucleotide variant Pathogenic rs104894572 GRCh38 Chromosome 17, 75765055: 75765055
33 GALK1 NM_000154.1(GALK1): c.1144C> T (p.Gln382Ter) single nucleotide variant Pathogenic rs111033608 GRCh37 Chromosome 17, 73754172: 73754172
34 GALK1 NM_000154.1(GALK1): c.1144C> T (p.Gln382Ter) single nucleotide variant Pathogenic rs111033608 GRCh38 Chromosome 17, 75758091: 75758091
35 GALK1 GALK1, 1-BP DEL, 761G deletion Pathogenic
36 GALT NG_009029.1: g.(?_4752)_(?_9014) deletion Pathogenic
37 GALT NG_009029.1: g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del] indel Pathogenic
38 GALT NM_000155.3(GALT): c.-67-52_-67-49delGTCA deletion Pathogenic rs111033640 GRCh37 Chromosome 9, 34646583: 34646586
39 GALT NM_000155.3(GALT): c.-67-52_-67-49delGTCA deletion Pathogenic rs111033640 GRCh38 Chromosome 9, 34646586: 34646589
40 GALT NM_000155.3(GALT): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs111033639 GRCh37 Chromosome 9, 34646702: 34646702
41 GALT NM_000155.3(GALT): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs111033639 GRCh38 Chromosome 9, 34646705: 34646705
42 GALT NM_000155.3(GALT): c.18delC (p.Asp7Ilefs) deletion Likely pathogenic rs111033638 GRCh37 Chromosome 9, 34646719: 34646719
43 GALT NM_000155.3(GALT): c.18delC (p.Asp7Ilefs) deletion Likely pathogenic rs111033638 GRCh38 Chromosome 9, 34646722: 34646722
44 GALT NM_000155.3(GALT): c.25C> T (p.Gln9Ter) single nucleotide variant Likely pathogenic rs111033848 GRCh37 Chromosome 9, 34646726: 34646726
45 GALT NM_000155.3(GALT): c.25C> T (p.Gln9Ter) single nucleotide variant Likely pathogenic rs111033848 GRCh38 Chromosome 9, 34646729: 34646729
46 GALT NM_000155.3(GALT): c.27G> C (p.Gln9His) single nucleotide variant Pathogenic rs111033637 GRCh37 Chromosome 9, 34646728: 34646728
47 GALT NM_000155.3(GALT): c.27G> C (p.Gln9His) single nucleotide variant Pathogenic rs111033637 GRCh38 Chromosome 9, 34646731: 34646731
48 GALT NM_000155.3(GALT): c.41delCinsTT (p.Ala14Valfs) indel Pathogenic/Likely pathogenic rs111033634 GRCh37 Chromosome 9, 34646742: 34646742
49 GALT NM_000155.3(GALT): c.41delCinsTT (p.Ala14Valfs) indel Pathogenic/Likely pathogenic rs111033634 GRCh38 Chromosome 9, 34646745: 34646745
50 GALT NM_000155.3(GALT): c.67A> G (p.Thr23Ala) single nucleotide variant Pathogenic rs111033635 GRCh37 Chromosome 9, 34646768: 34646768

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

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.23 AGA ALDOB FSHB G6PD GALE GALK1

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

# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.61 AMH BGLAP G6PD
2 carbohydrate metabolic process GO:0005975 9.56 G6PD GALE GALK1 GALT
3 phosphate-containing compound metabolic process GO:0006796 9.48 G6PC IMPA1
4 response to food GO:0032094 9.46 G6PC G6PD
5 regulation of osteoclast differentiation GO:0045670 9.4 BGLAP FSHB
6 glucose 6-phosphate metabolic process GO:0051156 9.37 G6PC G6PD
7 gluconeogenesis GO:0006094 9.33 ALDOB G6PC SLC25A13
8 NADP metabolic process GO:0006739 9.32 G6PD NOX1
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 NADP binding GO:0050661 8.96 G6PD NOX1
2 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 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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