MCID: GLC006
MIFTS: 64

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 53 12 72 72 49 24 71 36 28 13 14
Galt Deficiency 53 49 24 55 71
Galactose-1-Phosphate Uridylyltransferase Deficiency 53 72 71
Galactose-1-Phosphate Uridyltransferase Deficiency 49 55
Deficiency of Galactokinase 28 69
Classical Galactosemia 51 69
Galactosemia, Classic 53 49
Classic Galactosemia 24 55
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease 24
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency 24
Udp-Galactose-4-Epimerase Deficiency Disease 24
Udpglucose 4-Epimerase Deficiency Disease 69
Galactose-1-Phosphate Uridyltransferase 13
Epimerase Deficiency Galactosemia 24
Galactokinase Deficiency Disease 24
Galactose Epimerase Deficiency 24
Udp Galactose-4-Epimerase 13
Galactose Intolerance 12
Galactosemia Type 1 55
Galk Deficiency 24
Gale Deficiency 24
Galactosaemia 12
Galactosemias 69
Galct 71

Characteristics:

Orphanet epidemiological data:

55
classic galactosemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
galactosemia:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Galactosemia

NIH Rare Diseases : 49 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. Last updated: 6/25/2015

MalaCards based summary : Galactosemia, also known as galt deficiency, is related to epimerase deficiency galactosemia and galactokinase deficiency, and has symptoms including ataxia, tremor and nausea and vomiting. 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 Resistant to vaccinia virus (VACV-A4L) infection and homeostasis/metabolism

OMIM : 53 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 : 71 Galactosemia: Inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation.

Genetics Home Reference : 24 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.

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 12.5
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 folic acid deficiency anemia 10.2 GIF TF
14 retinitis 10.2
15 phenylketonuria 10.1
16 tropical sprue 10.1 ALDOB GIF
17 cerebritis 10.1
18 mevalonic aciduria 10.1 GALK1 IL1B
19 vitamin b12 deficiency 10.1 GIF TF
20 nutritional deficiency disease 10.1 BGLAP GIF TF
21 haemophilus influenzae 10.0 IL1B TF
22 aging 10.0
23 cataract 10.0
24 hepatitis 10.0
25 hypothyroidism 10.0
26 small intestine lymphoma 10.0 ALDOB GIF
27 eales disease 10.0 IL1B TF
28 infantile liver failure syndrome 1 9.9
29 hydrops, lactic acidosis, and sideroblastic anemia 9.9
30 hypogonadism 9.9
31 blood group, i system 9.9
32 fructose intolerance, hereditary 9.9
33 hemochromatosis, neonatal 9.9
34 premature ovarian failure 1 9.9
35 congenital hypothyroidism 9.9
36 siderosis 9.9
37 hyperglycemia 9.9
38 fanconi syndrome 9.8
39 glycogen storage disease ia 9.8 ALDOB G6PC GALK1
40 biotinidase deficiency 9.8
41 alpha-1-antitrypsin deficiency 9.8
42 cholestasis 9.8
43 biliary atresia 9.8
44 bilirubin metabolic disorder 9.8
45 homocystinuria 9.8
46 endotheliitis 9.8
47 chronic granulomatous disease 9.7 G6PD IL1B NOX1
48 fructose-1,6-bisphosphatase deficiency 9.7 ALDOB G6PC
49 carbohydrate metabolic disorder 9.7 ALDOB G6PC GALK1 GALT
50 fibrosis of extraocular muscles, congenital, 1 9.6

Graphical network of the top 20 diseases related to Galactosemia:



Diseases related to Galactosemia

Symptoms & Phenotypes for Galactosemia

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
vomiting
diarrhea

Head And Neck Eyes:
cataract

Hematology:
hemolytic anemia

Genitourinary External Genitalia Female:
ovarian failure due to hypergonadotropic hypogonadism

Growth Other:
failure to thrive

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

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:

55 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001251
2 tremor 55 31 frequent (33%) Occasional (29-5%) HP:0001337
3 nausea and vomiting 55 31 hallmark (90%) Frequent (79-30%) HP:0002017
4 lethargy 55 31 hallmark (90%) Occasional (29-5%) HP:0001254
5 intellectual disability 55 31 hallmark (90%) Frequent (79-30%) HP:0001249
6 dysarthria 55 31 occasional (7.5%) Occasional (29-5%) HP:0001260
7 gait disturbance 55 31 occasional (7.5%) Occasional (29-5%) HP:0001288
8 failure to thrive 55 31 frequent (33%) Frequent (79-30%) HP:0001508
9 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
10 osteoporosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000939
11 hypoglycemia 55 31 occasional (7.5%) Very frequent (99-80%) HP:0001943
12 abnormal bleeding 55 31 hallmark (90%) Very frequent (99-80%) HP:0001892
13 weight loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0001824
14 feeding difficulties 55 31 frequent (33%) Frequent (79-30%) HP:0011968
15 abnormality of the ovary 55 31 hallmark (90%) Very frequent (99-80%) HP:0000137
16 jaundice 55 31 hallmark (90%) Very frequent (99-80%) HP:0000952
17 sepsis 55 31 frequent (33%) Occasional (29-5%) HP:0100806
18 hepatic failure 55 31 hallmark (90%) Very frequent (99-80%) HP:0001399
19 decreased fertility in females 55 31 frequent (33%) Frequent (79-30%) HP:0000868
20 speech apraxia 55 31 occasional (7.5%) Frequent (79-30%) HP:0011098
21 speech articulation difficulties 55 31 frequent (33%) Frequent (79-30%) HP:0009088
22 impairment of galactose metabolism 55 31 frequent (33%) Frequent (79-30%) HP:0004915
23 seizures 31 occasional (7.5%) HP:0001250
24 vomiting 31 HP:0002013
25 diarrhea 31 HP:0002014
26 muscular hypotonia 31 frequent (33%) HP:0001252
27 global developmental delay 31 hallmark (90%) HP:0001263
28 hepatomegaly 31 frequent (33%) HP:0002240
29 microcephaly 31 occasional (7.5%) HP:0000252
30 visual impairment 31 occasional (7.5%) HP:0000505
31 feeding difficulties in infancy 31 hallmark (90%) HP:0008872
32 cognitive impairment 31 hallmark (90%) HP:0100543
33 renal insufficiency 31 occasional (7.5%) HP:0000083
34 aminoaciduria 31 HP:0003355
35 decreased liver function 31 HP:0001410
36 ascites 31 frequent (33%) HP:0001541
37 abnormality of movement 55 Occasional (29-5%)
38 hemolytic anemia 31 occasional (7.5%) HP:0001878
39 growth delay 31 frequent (33%) HP:0001510
40 failure to thrive in infancy 31 hallmark (90%) HP:0001531
41 cirrhosis 31 HP:0001394
42 hypogonadotrophic hypogonadism 31 occasional (7.5%) HP:0000044
43 hypergonadotropic hypogonadism 31 HP:0000815
44 abnormality of the voice 31 frequent (33%) HP:0001608
45 abnormality of coagulation 31 frequent (33%) HP:0001928
46 metabolic acidosis 31 HP:0001942
47 edema of the lower limbs 31 frequent (33%) HP:0010741
48 hyperchloremic metabolic acidosis 31 HP:0004918
49 neonatal death 55 Occasional (29-5%)
50 galactosuria 31 HP:0012023

UMLS symptoms related to Galactosemia:


vomiting, icterus, diarrhea

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.23 AGA ALDOB AMH BGLAP GALE GALT

MGI Mouse Phenotypes related to Galactosemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.44 GIF IL1B NOX1 SLC25A13 TF AGA

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
2 Hormone Antagonists
3 Hormones
4 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inactive FSH in Galactosemia Unknown status NCT00619333 follitropin and lutropin
2 Glycosylation in Patients With Galactosaemia Completed NCT02218632
3 Intervention and Outcomes in Duarte Galactosemia Completed NCT02519504
4 Pregnancy Chances in Classic Galactosemia Completed NCT02091128
5 The Early History of Universal Screening for Metabolic Disorders Completed NCT00309400

Search NIH Clinical Center for Galactosemia

Genetic Tests for Galactosemia

Genetic tests related to Galactosemia:

# Genetic test Affiliating Genes
1 Galactosemia 28

Anatomical Context for Galactosemia

MalaCards organs/tissues related to Galactosemia:

38
Liver, Testes, Brain, Bone, Eye, Ovary, Cortex

Publications for Galactosemia

Articles related to Galactosemia:

(show top 50) (show all 578)
# Title Authors Year
1
GALT Deficiency Galactosemia. ( 29215423 )
2018
2
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia. ( 29350350 )
2018
3
Hereditary Galactosemia. ( 29409891 )
2018
4
GALT Deficiency Galactosemia. ( 29215431 )
2018
5
Molecular basis and clinical presentation of classic galactosemia in a Croatian population. ( 29252199 )
2018
6
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). ( 29261178 )
2018
7
The evolution of a Web resource: The Galactosemia Proteins Database 2.0. ( 28961353 )
2018
8
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family. ( 28450132 )
2017
9
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
10
Classical galactosemia: Insight into molecular pathomechanisms by differential membrane proteomics of fibroblasts under galactose stress. ( 28075131 )
2017
11
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. ( 28391442 )
2017
12
Evidence for dopaminergic denervation in classical galactosemia. ( 28370299 )
2017
13
Sweet and sour: an update on classic galactosemia. ( 28281081 )
2017
14
Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model. ( 28545161 )
2017
15
Brain MRI in a patient with classical galactosemia: acute event of unilateral hemispheric cerebral edema. ( 28900716 )
2017
16
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. ( 28078493 )
2017
17
Drosophila melanogaster Models of Galactosemia. ( 28057307 )
2017
18
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
19
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
20
Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities. ( 28932969 )
2017
21
Neonatal Screening: Cost-utility Analysis for Galactosemia. ( 28451536 )
2017
22
Galactose 1 Phosphate Uridyltransferase Deficiency (Galactosemia) ( 28722986 )
2017
23
Fertility in adult women with classic galactosemia and primary ovarian insufficiency. ( 28579413 )
2017
24
Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia. ( 28831125 )
2017
25
The galactose-induced decrease in phosphate levels leads to toxicity in yeast models of galactosemia. ( 28213126 )
2017
26
Impaired fertility and motor function in a zebrafish model for classic galactosemia. ( 28913702 )
2017
27
Vertically-Oriented and Shape-Tailored Electrocatalytic Metal Nanowire Arrays for Enzyme-Free Galactosemia Rapid Diagnosis. ( 28370567 )
2017
28
Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center. ( 26840667 )
2016
29
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. ( 27995581 )
2016
30
Clinical, molecular, and genetic evaluation of galactosemia in Turkish children. ( 28123333 )
2016
31
Classic Galactosemia: Indian Scenario. ( 26840665 )
2016
32
Grey matter density decreases as well as increases in patients with classic galactosemia: A voxel-based morphometry study. ( 27502028 )
2016
33
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase. ( 27005423 )
2016
34
The galactosemia network (GalNet). ( 27837294 )
2016
35
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation. ( 27562100 )
2016
36
Teaching NeuroImages: Galactitol peak and fatal cerebral edema in classic galactosemia: Too much sugar in the brain. ( 26783274 )
2016
37
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
38
Galactosemia , A Not to be Missed Inborn Error of Metabolism. ( 26840664 )
2016
39
Liver Failure, Hepatic Siderosis, and Membrane Attack Complexes: Neonatal Hemochromatosis and/or Galactosemia?: RETRACTED. ( 27403610 )
2016
40
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations. ( 27176039 )
2016
41
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. ( 27858262 )
2016
42
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models. ( 27466186 )
2016
43
Evidence of oxidative stress in brain and liver of young rats submitted to experimental galactosemia. ( 27389247 )
2016
44
Gastrointestinal Health in Classic Galactosemia. ( 27363831 )
2016
45
Newborn screening for galactosemia: a 30-year single center experience. ( 25754754 )
2015
46
Negative Urine Benedict's Test in a Child with Galactosemia: A Diagnostic Challenge. ( 25680784 )
2015
47
Using a Personal Glucose Meter and Alkaline Phosphatase for Point-of-Care Quantification of Galactose-1-Phosphate Uridyltransferase in Clinical Galactosemia Diagnosis. ( 26350570 )
2015
48
The molecular basis of galactosemia - Past, present and future. ( 26143117 )
2015
49
Consensus on the guidelines for the dietary management of classical galactosemia. ( 28531441 )
2015
50
Rapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma. ( 25622686 )
2015

Variations for Galactosemia

UniProtKB/Swiss-Prot genetic disease variations for Galactosemia:

71 (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 247)
# Gene Variation Type Significance SNP ID Assembly Location
1 GALT NG_009029.1: g.(?_4752)_(?_9014) deletion Pathogenic
2 GALT NG_009029.1: g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del] indel Pathogenic
3 GALT NM_000155.3(GALT): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs111033639 GRCh37 Chromosome 9, 34646702: 34646702
4 GALT NM_000155.3(GALT): c.18delC (p.Asp7Ilefs) deletion Pathogenic/Likely pathogenic rs111033638 GRCh37 Chromosome 9, 34646719: 34646719
5 GALT NM_000155.3(GALT): c.25C> T (p.Gln9Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033848 GRCh37 Chromosome 9, 34646726: 34646726
6 GALT NM_000155.3(GALT): c.27G> C (p.Gln9His) single nucleotide variant Pathogenic rs111033637 GRCh37 Chromosome 9, 34646728: 34646728
7 GALT NM_000155.3(GALT): c.41delCinsTT (p.Ala14Valfs) indel Pathogenic/Likely pathogenic rs111033634 GRCh37 Chromosome 9, 34646742: 34646742
8 GALT NM_000155.3(GALT): c.67A> G (p.Thr23Ala) single nucleotide variant Pathogenic rs111033635 GRCh37 Chromosome 9, 34646768: 34646768
9 GALT NM_000155.3(GALT): c.82G> T (p.Asp28Tyr) single nucleotide variant Pathogenic rs111033636 GRCh37 Chromosome 9, 34646783: 34646783
10 GALT NM_000155.3(GALT): c.82G> C (p.Asp28His) single nucleotide variant Pathogenic rs111033636 GRCh37 Chromosome 9, 34646783: 34646783
11 GALT NM_000155.3(GALT): c.90G> C (p.Gln30His) single nucleotide variant Pathogenic rs111033834 GRCh37 Chromosome 9, 34647093: 34647093
12 GALT NM_000155.3(GALT): c.91C> A (p.His31Asn) single nucleotide variant Pathogenic rs111033643 GRCh37 Chromosome 9, 34647094: 34647094
13 GALT NM_000155.3(GALT): c.95T> A (p.Ile32Asn) single nucleotide variant Pathogenic rs111033644 GRCh37 Chromosome 9, 34647098: 34647098
14 GALT NM_000155.3(GALT): c.98G> A (p.Arg33His) single nucleotide variant Pathogenic rs111033829 GRCh37 Chromosome 9, 34647101: 34647101
15 GALT NM_000155.3(GALT): c.100T> A (p.Tyr34Asn) single nucleotide variant Pathogenic rs111033836 GRCh37 Chromosome 9, 34647103: 34647103
16 GALT NM_000155.3(GALT): c.113A> C (p.Gln38Pro) single nucleotide variant Pathogenic rs111033646 GRCh37 Chromosome 9, 34647116: 34647116
17 GALT NM_000155.3(GALT): c.130G> T (p.Val44Leu) single nucleotide variant Pathogenic rs111033647 GRCh37 Chromosome 9, 34647133: 34647133
18 GALT NM_000155.3(GALT): c.134_138delCAGCT (p.Ala46Profs) deletion Pathogenic rs111033651 GRCh37 Chromosome 9, 34647137: 34647141
19 GALT NM_000155.3(GALT): c.152G> T (p.Arg51Leu) single nucleotide variant Pathogenic rs111033648 GRCh37 Chromosome 9, 34647155: 34647155
20 GALT NM_000155.3(GALT): c.160C> T (p.Gln54Ter) single nucleotide variant Pathogenic rs111033649 GRCh37 Chromosome 9, 34647163: 34647163
21 GALT NM_000155.3(GALT): c.197C> A (p.Pro66His) single nucleotide variant Pathogenic rs111033656 GRCh37 Chromosome 9, 34647200: 34647200
22 GALT NM_000155.3(GALT): c.197C> T (p.Pro66Leu) single nucleotide variant Pathogenic rs111033656 GRCh37 Chromosome 9, 34647200: 34647200
23 GALT NM_000155.3(GALT): c.199C> T (p.Arg67Cys) single nucleotide variant Pathogenic rs111033658 GRCh37 Chromosome 9, 34647202: 34647202
24 GALT NM_000155.3(GALT): c.207_214delCCCTCTCA (p.Asp69Glufs) deletion Pathogenic rs111033655 GRCh37 Chromosome 9, 34647210: 34647217
25 GALT NM_000155.3(GALT): c.220_221insG (p.Leu74Argfs) insertion Pathogenic rs111033659 GRCh37 Chromosome 9, 34647223: 34647224
26 GALT NM_000155.3(GALT): c.238C> T (p.Arg80Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033664 GRCh37 Chromosome 9, 34647241: 34647241
27 GALT NM_000155.3(GALT): c.253-2A> G single nucleotide variant Pathogenic rs111033661 GRCh37 Chromosome 9, 34647487: 34647487
28 GALT NM_000155.3(GALT): c.265T> G (p.Tyr89Asp) single nucleotide variant Pathogenic rs111033666 GRCh37 Chromosome 9, 34647501: 34647501
29 GALT NM_000155.3(GALT): c.265T> C (p.Tyr89His) single nucleotide variant Pathogenic rs111033666 GRCh37 Chromosome 9, 34647501: 34647501
30 GALT NM_000155.3(GALT): c.285T> G (p.Phe95Leu) single nucleotide variant Pathogenic rs111033668 GRCh37 Chromosome 9, 34647521: 34647521
31 GALT NM_000155.3(GALT): c.290A> G (p.Asn97Ser) single nucleotide variant Pathogenic rs111033669 GRCh37 Chromosome 9, 34647526: 34647526
32 GALT NM_000155.3(GALT): c.367C> G (p.Arg123Gly) single nucleotide variant Pathogenic rs111033674 GRCh37 Chromosome 9, 34647692: 34647692
33 GALT NM_000155.3(GALT): c.292G> A (p.Asp98Asn) single nucleotide variant Pathogenic rs111033670 GRCh37 Chromosome 9, 34647528: 34647528
34 GALT NM_000155.3(GALT): c.328+2T> C single nucleotide variant Pathogenic rs111033849 GRCh37 Chromosome 9, 34647566: 34647566
35 GALT NM_000155.3(GALT): c.308A> G (p.Gln103Arg) single nucleotide variant Pathogenic rs367543252 GRCh37 Chromosome 9, 34647544: 34647544
36 GALT NM_000155.3(GALT): c.329-2A> C single nucleotide variant Pathogenic rs111033667 GRCh37 Chromosome 9, 34647652: 34647652
37 GALT NM_000155.3(GALT): c.333_334insA (p.Ser112Lysfs) insertion Pathogenic rs111033676 GRCh37 Chromosome 9, 34647659: 34647659
38 GALT NM_000155.3(GALT): c.336T> C (p.Ser112=) single nucleotide variant Pathogenic rs367543254 GRCh37 Chromosome 9, 34647661: 34647661
39 GALT NM_000155.3(GALT): c.337G> A (p.Asp113Asn) single nucleotide variant Pathogenic rs111033677 GRCh37 Chromosome 9, 34647662: 34647662
40 GALT NM_000155.3(GALT): c.341A> T (p.His114Leu) single nucleotide variant Pathogenic rs111033678 GRCh37 Chromosome 9, 34647666: 34647666
41 GALT NM_000155.3(GALT): c.350T> C (p.Phe117Ser) single nucleotide variant Pathogenic rs111033679 GRCh37 Chromosome 9, 34647675: 34647675
42 GALT NM_000155.3(GALT): c.354A> C (p.Gln118His) single nucleotide variant Pathogenic rs111033673 GRCh37 Chromosome 9, 34647679: 34647679
43 GALT NM_000155.3(GALT): c.368G> A (p.Arg123Gln) single nucleotide variant Pathogenic rs111033675 GRCh37 Chromosome 9, 34647693: 34647693
44 GALT NM_000155.3(GALT): c.374T> C (p.Val125Ala) single nucleotide variant Pathogenic rs111033680 GRCh37 Chromosome 9, 34647699: 34647699
45 GALT NM_000155.3(GALT): c.377+1G> T single nucleotide variant Pathogenic rs111033681 GRCh37 Chromosome 9, 34647703: 34647703
46 GALT NM_000155.3(GALT): c.377+53_1059+87del deletion Pathogenic GRCh37 Chromosome 9, 34647755: 34649648
47 GALT NM_000155.3(GALT): c.392T> G (p.Phe131Cys) single nucleotide variant Pathogenic rs111033684 GRCh37 Chromosome 9, 34647843: 34647843
48 GALT NM_000155.3(GALT): c.396C> A (p.His132Gln) single nucleotide variant Pathogenic/Likely pathogenic rs367543256 GRCh37 Chromosome 9, 34647847: 34647847
49 GALT NM_000155.3(GALT): c.400delT (p.Trp134Glyfs) deletion Pathogenic rs111033689 GRCh37 Chromosome 9, 34647851: 34647851
50 GALT NM_000155.3(GALT): c.404C> G (p.Ser135Trp) single nucleotide variant Pathogenic/Likely pathogenic rs111033690 GRCh37 Chromosome 9, 34647855: 34647855

Expression for Galactosemia

Search GEO for disease gene expression data for Galactosemia.

Pathways for Galactosemia

Pathways related to Galactosemia according to KEGG:

36
# 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 space GO:0005615 9.5 AGA AMH BGLAP FSHB GIF IL1B
2 vesicle GO:0031982 9.33 BGLAP IL1B TF
3 extracellular exosome GO:0070062 9.28 AGA ALDOB FSHB G6PD GALE GALK1

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

(show all 11)
# 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 positive regulation of vascular endothelial growth factor production GO:0010575 9.49 IL1B NOX1
4 response to food GO:0032094 9.48 G6PC G6PD
5 phosphate-containing compound metabolic process GO:0006796 9.46 G6PC IMPA1
6 regulation of osteoclast differentiation GO:0045670 9.4 BGLAP FSHB
7 glucose 6-phosphate metabolic process GO:0051156 9.37 G6PC G6PD
8 gluconeogenesis GO:0006094 9.33 ALDOB G6PC SLC25A13
9 NADP metabolic process GO:0006739 9.32 G6PD NOX1
10 galactose metabolic process GO:0006012 9.13 GALE GALK1 GALT
11 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MeSH
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43 MGI
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50 NINDS
51 Novoseek
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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