GALCT
MCID: GLC006
MIFTS: 64

Galactosemia (GALCT) malady

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

Aliases & Classifications for Galactosemia

Aliases & Descriptions for Galactosemia:

Name: Galactosemia 54 12 71 50 24 25 66 29 13 14
Galt Deficiency 50 24 25 56 66
Galactose-1-Phosphate Uridyltransferase Deficiency 50 24 56
Classic Galactosemia 24 25 56
Galactokinase Deficiency Disease 25 29
Classical Galactosemia 52 69
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease 25
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency 25
Galactose-1-Phosphate Uridylyltransferase Deficiency 66
Udp-Galactose-4-Epimerase Deficiency Disease 25
Udpglucose 4-Epimerase Deficiency Disease 69
Galactose-1-Phosphate Uridyltransferase 13
Epimerase Deficiency Galactosemia 25
Galactose Epimerase Deficiency 25
Deficiency of Galactokinase 69
Udp Galactose-4-Epimerase 13
Galactose Intolerance 12
Galactosemia, Classic 50
Galactosemia Type 1 56
Gale Deficiency 25
Galk Deficiency 25
Galactosaemia 12
Galactosemias 69
Galct 66

Characteristics:

Orphanet epidemiological data:

56
classic galactosemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

HPO:

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


Classifications:



External Ids:

OMIM 54 230400
Disease Ontology 12 DOID:9870
ICD10 33 E74.21
ICD9CM 35 271.1
MeSH 42 D005693
NCIt 47 C84723
Orphanet 56 ORPHA79239
ICD10 via Orphanet 34 E74.2
UMLS via Orphanet 70 C0268151
UMLS 69 C0016952

Summaries for Galactosemia

NIH Rare Diseases : 50 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 galactose epimerase deficiency and duarte variant galactosemia, 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 Metabolism and Glycosaminoglycan metabolism. The drugs Tenofovir and Emtricitabine 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

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

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

OMIM : 54 Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal... (230400) more...

UniProtKB/Swiss-Prot : 66 Galactosemia: Inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation.

Wikipedia : 71 Galactosemia (British galactosaemia) is a rare genetic metabolic disorder that affects an individual\'s... more...

Related Diseases for Galactosemia

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

(show top 50) (show all 68)
id Related Disease Score Top Affiliating Genes
1 galactose epimerase deficiency 32.9 GALE GALK1 GALT
2 duarte variant galactosemia 12.4
3 epimerase deficiency galactosemia 12.0
4 classic galactosemia and clinical variant galactosemia 11.9
5 galactokinase deficiency with cataracts 11.8
6 generalized galactose epimerase deficiency 10.8
7 erythrocyte galactose epimerase deficiency 10.8
8 familial monosomy 7 syndrome 10.1 GALE GALK1 GALT
9 retinitis 10.1
10 cat-scratch disease 10.0 G6PD TF
11 microphthalmia, syndromic 13 10.0 G6PC G6PD
12 phenylketonuria 10.0
13 alexander disease 10.0 G6PC GALK1
14 anuria 10.0 G6PC GALK1 GALT
15 amelogenesis imperfecta, type ig 10.0 GALE GALK1 GALT SLC25A13
16 cerebritis 9.9
17 fanconi-bickel syndrome 9.9
18 cataract 9.9
19 hypothyroidism 9.9
20 hepatitis 9.9
21 poems syndrome 9.9 GIF TF
22 hypogonadism 9.9
23 premature ovarian failure 9.8
24 hemochromatosis 9.8
25 congenital hypothyroidism 9.8
26 hyperglycemia 9.8
27 fructose intolerance 9.8
28 siderosis 9.8
29 central nervous system leiomyoma 9.8 BGLAP GIF TF
30 congenital intrinsic factor deficiency 9.7 GIF TF
31 biliary atresia 9.7
32 homocystinuria 9.7
33 biotinidase deficiency 9.7
34 endotheliitis 9.7
35 cholestasis 9.7
36 friedreich ataxia 9.7
37 myopia 9.7
38 cryptorchidism 9.6
39 amenorrhea 9.6
40 hypoglycemia 9.6
41 obstructive hydrocephalus 9.6
42 hyperphenylalaninemia 9.6
43 diabetic neuropathy 9.6
44 hyperuricemia 9.6
45 schizophrenia 9.6
46 hemophagocytic lymphohistiocytosis 9.6
47 hemoglobinopathy 9.6
48 childhood apraxia of speech 9.6
49 cystathioninuria 9.6
50 hepatitis b 9.6

Graphical network of the top 20 diseases related to Galactosemia:



Diseases related to Galactosemia

Symptoms & Phenotypes for Galactosemia

Symptoms by clinical synopsis from OMIM:

230400

Clinical features from OMIM:

230400

Human phenotypes related to Galactosemia:

56 32 (show top 50) (show all 52)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 tremor 56 32 Occasional (29-5%) HP:0001337
3 nausea and vomiting 56 32 Frequent (79-30%) HP:0002017
4 lethargy 56 32 Occasional (29-5%) HP:0001254
5 intellectual disability 56 32 Frequent (79-30%) HP:0001249
6 dysarthria 56 32 Occasional (29-5%) HP:0001260
7 gait disturbance 56 32 Occasional (29-5%) HP:0001288
8 failure to thrive 56 32 Frequent (79-30%) HP:0001508
9 cataract 56 32 Frequent (79-30%) HP:0000518
10 osteoporosis 56 32 Very frequent (99-80%) HP:0000939
11 hypoglycemia 56 32 Very frequent (99-80%) HP:0001943
12 abnormal bleeding 56 32 Very frequent (99-80%) HP:0001892
13 weight loss 56 32 Very frequent (99-80%) HP:0001824
14 feeding difficulties 56 32 Frequent (79-30%) HP:0011968
15 abnormality of the ovary 56 32 Very frequent (99-80%) HP:0000137
16 jaundice 56 32 Very frequent (99-80%) HP:0000952
17 sepsis 56 32 Occasional (29-5%) HP:0100806
18 hepatic failure 56 32 Very frequent (99-80%) HP:0001399
19 decreased fertility in females 56 32 Frequent (79-30%) HP:0000868
20 speech apraxia 56 32 Frequent (79-30%) HP:0011098
21 speech articulation difficulties 56 32 Frequent (79-30%) HP:0009088
22 impairment of galactose metabolism 56 32 Frequent (79-30%) HP:0004915
23 seizures 32 HP:0001250
24 vomiting 32 HP:0002013
25 diarrhea 32 HP:0002014
26 muscular hypotonia 32 HP:0001252
27 global developmental delay 32 HP:0001263
28 hepatomegaly 32 HP:0002240
29 microcephaly 32 HP:0000252
30 visual impairment 32 HP:0000505
31 feeding difficulties in infancy 32 HP:0008872
32 cognitive impairment 32 HP:0100543
33 renal insufficiency 32 HP:0000083
34 aminoaciduria 32 HP:0003355
35 decreased liver function 32 HP:0001410
36 ascites 32 HP:0001541
37 abnormality of movement 56 Occasional (29-5%)
38 hemolytic anemia 32 HP:0001878
39 growth delay 32 HP:0001510
40 cirrhosis 32 HP:0001394
41 hypogonadotrophic hypogonadism 32 HP:0000044
42 hypergonadotropic hypogonadism 32 HP:0000815
43 abnormality of the voice 32 HP:0001608
44 failure to thrive in infancy 32 HP:0001531
45 abnormality of coagulation 32 HP:0001928
46 metabolic acidosis 32 HP:0001942
47 edema of the lower limbs 32 HP:0010741
48 premature ovarian failure 32 HP:0008209
49 hyperchloremic metabolic acidosis 32 HP:0004918
50 neonatal death 56 Occasional (29-5%)

UMLS symptoms related to Galactosemia:


diarrhea, vomiting, icterus

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.1 AMH BGLAP GALE GALT GIF TF

MGI Mouse Phenotypes related to Galactosemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.23 SLC25A13 TF AMH G6PC G6PD GALK1

Drugs & Therapeutics for Galactosemia

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

(show all 35)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tenofovir Approved, Investigational Phase 4,Phase 2 147127-20-6 464205
2
Emtricitabine Approved, Investigational Phase 4,Phase 2 143491-57-0 60877
3
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
4
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
5
Maraviroc Approved, Investigational Phase 4,Phase 2 376348-65-1 3002977
6
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
7 HIV Integrase Inhibitors Phase 4
8 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2
9 Anti-HIV Agents Phase 4,Phase 2
10 Anti-Infective Agents Phase 4,Phase 2
11 Integrase Inhibitors Phase 4
12 Raltegravir Potassium Phase 4
13 Anti-Retroviral Agents Phase 4,Phase 2
14 Reverse Transcriptase Inhibitors Phase 4,Phase 2
15 Antiviral Agents Phase 4,Phase 2
16
protease inhibitors Phase 4
17 HIV Protease Inhibitors Phase 4
18 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
19 Cytochrome P-450 CYP3A Inducers Phase 4
20 Cytochrome P-450 CYP3A Inhibitors Phase 4
21 Cytochrome P-450 Enzyme Inhibitors Phase 4
22 Acidophilus Nutraceutical Phase 3
23 glutamine Nutraceutical Phase 1, Phase 2
24
Vedolizumab Approved Phase 1 943609-66-3
25 Gastrointestinal Agents Phase 1
26 Immunoglobulins Phase 1
27 Antibodies, Monoclonal Phase 1
28 Antibodies Phase 1
29
Enfuvirtide Approved, Investigational 159519-65-0 16130199
30
Menthol Approved 2216-51-5 16666
31 Follicle Stimulating Hormone
32 Hormone Antagonists
33 Hormones
34 Hormones, Hormone Substitutes, and Hormone Antagonists
35 Cola Nutraceutical

Interventional clinical trials:

(show all 24)
id Name Status NCT ID Phase
1 HIV Persistence and Viral Reservoirs Unknown status NCT01025427 Phase 4
2 Mechanisms of Immune Reconstitution & Reduced Immune Activation Following Darunavir-based ART Completed NCT01869634 Phase 4
3 A Pilot Project of Virologic, Pharmacologic and Immunologic Correlates of Gastrointestinal-Associated Lymphoid Tissue Immune Reconstitution Following Maraviroc Therapy Completed NCT00870363 Phase 4
4 Fermented Milk and Fermented Rice on the Appearance of Respiratory and Gastrointestinal Symptoms Completed NCT01909128 Phase 3
5 Randomized Placebo-controlled Pilot Trial of Prebiotics+Glutamine in HIV Infection Completed NCT01838915 Phase 1, Phase 2
6 Evaluating the Safety and Tolerability of Antiretroviral Drug Regimens Used as Pre-Exposure Prophylaxis to Prevent HIV Infection in At-Risk Men Who Have Sex With Men and in At-Risk Women Completed NCT01505114 Phase 2
7 Vedolizumab (Anti-alpha4beta7) in Subjects With HIV Infection Undergoing Analytical Treatment Interruption Recruiting NCT02788175 Phase 1
8 Inactive FSH in Galactosemia Unknown status NCT00619333
9 The Role of Human Milk in Development of Breast Fed Child's Intestinal Microbiota Unknown status NCT01548313
10 Glycosylation in Patients With Galactosaemia Completed NCT02218632
11 Pregnancy Chances in Classic Galactosemia Completed NCT02091128
12 Gut Associated Lymphatic Tissue (GALT) in HIV (Human Immunodeficiency Virus)- Infected Patients Completed NCT01679067
13 Residual Replication of HIV-1 in the Gut Associated Lymphoid Tissue (GALT) of Patients on Highly Active Antiretroviral Therapy (HAART): the ANRS EP 44 Study Completed NCT01038401
14 The Early History of Universal Screening for Metabolic Disorders Completed NCT00309400
15 Pilot Project of Virologic and Immunologic Correlates of GALT Immune Reconstitution Following Raltegravir Therapy Completed NCT00661960
16 Impact of Pre-ART Blood CD4+ T Cell Level on the Rectal Reservoir in Long-term HIV-1 Treated Men Completed NCT02526940
17 Fuzeon Viral Decay Pilot Study Completed NCT00334022
18 Intervention and Outcomes in Duarte Galactosemia Recruiting NCT02519504
19 Gut-Associated Lymphocyte Trafficking Recruiting NCT02906137
20 Predictors of Time to Viremia With an Analytic Treatment Interruption Recruiting NCT03033017
21 HIV Eradication Through Cord-blood Transplantation Recruiting NCT02923076
22 Evaluation of Hypoallergenicity of a New Extensively Hydrolyzed Formula Recruiting NCT02450643
23 The Lymphoid Tissue Pharmacology of Antiretroviral Drugs Not yet recruiting NCT02707926
24 Raltegravir Activity In Lymphoid Tissues Withdrawn NCT00863668

Search NIH Clinical Center for Galactosemia

Genetic Tests for Galactosemia

Genetic tests related to Galactosemia:

id Genetic test Affiliating Genes
1 Deficiency of Galactokinase 29
2 Galactosemia 29 24 GALT

Anatomical Context for Galactosemia

MalaCards organs/tissues related to Galactosemia:

39
Liver, Testes, Brain, Bone, Eye, Ovary, Cortex

Publications for Galactosemia

Articles related to Galactosemia:

(show top 50) (show all 560)
id Title Authors Year
1
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. ( 28078493 )
2017
2
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. ( 28391442 )
2017
3
The galactose-induced decrease in phosphate levels leads to toxicity in yeast models of galactosemia. ( 28213126 )
2017
4
Drosophila melanogaster Models of Galactosemia. ( 28057307 )
2017
5
Vertically-Oriented and Shape-Tailored Electrocatalytic Metal Nanowire Arrays for Enzyme-Free Galactosemia Rapid Diagnosis. ( 28370567 )
2017
6
Sweet and sour: an update on classic galactosemia. ( 28281081 )
2017
7
Neonatal Screening: Cost-utility Analysis for Galactosemia. ( 28451536 )
2017
8
Classical galactosemia: Insight into molecular pathomechanisms by differential membrane proteomics of fibroblasts under galactose stress. ( 28075131 )
2017
9
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family. ( 28450132 )
2017
10
Evidence for dopaminergic denervation in classical galactosemia. ( 28370299 )
2017
11
Teaching NeuroImages: Galactitol peak and fatal cerebral edema in classic galactosemia: Too much sugar in the brain. ( 26783274 )
2016
12
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
13
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. ( 27995581 )
2016
14
Classic Galactosemia: Indian Scenario. ( 26840665 )
2016
15
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation. ( 27562100 )
2016
16
The galactosemia network (GalNet). ( 27837294 )
2016
17
Galactosemia , A Not to be Missed Inborn Error of Metabolism. ( 26840664 )
2016
18
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations. ( 27176039 )
2016
19
Grey matter density decreases as well as increases in patients with classic galactosemia: A voxel-based morphometry study. ( 27502028 )
2016
20
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. ( 27858262 )
2016
21
Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center. ( 26840667 )
2016
22
Clinical, molecular, and genetic evaluation of galactosemia in Turkish children. ( 28123333 )
2016
23
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models. ( 27466186 )
2016
24
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase. ( 27005423 )
2016
25
Liver Failure, Hepatic Siderosis, and Membrane Attack Complexes: Neonatal Hemochromatosis and/or Galactosemia?: RETRACTED. ( 27403610 )
2016
26
Gastrointestinal Health in Classic Galactosemia. ( 27363831 )
2016
27
Evidence of oxidative stress in brain and liver of young rats submitted to experimental galactosemia. ( 27389247 )
2016
28
The molecular basis of galactosemia - Past, present and future. ( 26143117 )
2015
29
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia. ( 25920691 )
2015
30
A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia. ( 25681079 )
2015
31
Rapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma. ( 25622686 )
2015
32
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study. ( 26053138 )
2015
33
Using a Personal Glucose Meter and Alkaline Phosphatase for Point-of-Care Quantification of Galactose-1-Phosphate Uridyltransferase in Clinical Galactosemia Diagnosis. ( 26350570 )
2015
34
Affected functional networks associated with sentence production in classic galactosemia. ( 25979518 )
2015
35
Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study. ( 25681083 )
2015
36
Spontaneous Recovery of Ovarian Function in an Adolescent with Galactosemia and Apparent Premature Ovarian Insufficiency. ( 26024933 )
2015
37
Capillary bedside blood glucose measurement in neonates: missing a diagnosis of galactosemia. ( 25800483 )
2015
38
Consensus on the guidelines for the dietary management of classical galactosemia. ( 28531441 )
2015
39
Negative Urine Benedict's Test in a Child with Galactosemia: A Diagnostic Challenge. ( 25680784 )
2015
40
Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia. ( 26217714 )
2015
41
Newborn screening for galactosemia: a 30-year single center experience. ( 25754754 )
2015
42
A brief overview of galactosemia newborn screening in the United States. ( 24658844 )
2014
43
Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia. ( 25086875 )
2014
44
Liver failure, hepatic siderosis, and membrane attack complexes: neonatal hemochromatosis and/or galactosemia?: Retraction. ( 25222808 )
2014
45
Usefulness of Benedict's test for the screening of galactosemia. ( 24530342 )
2014
46
The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding. ( 25150110 )
2014
47
Erratum to: Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead. ( 25381176 )
2014
48
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal. ( 23749220 )
2014
49
Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead. ( 24718839 )
2014
50
Developmental Defects in a Caenorhabditis elegans Model for Type III Galactosemia. ( 25298520 )
2014

Variations for Galactosemia

UniProtKB/Swiss-Prot genetic disease variations for Galactosemia:

66 (show top 50) (show all 134)
id 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 248)
id 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.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs111033800 GRCh37 Chromosome 9, 34649499: 34649499
3 GALT NM_000155.3(GALT): c.130G> A (p.Val44Met) single nucleotide variant Pathogenic rs111033647 GRCh37 Chromosome 9, 34647133: 34647133
4 GALT NM_000155.3(GALT): c.563A> G (p.Gln188Arg) single nucleotide variant Pathogenic rs75391579 GRCh37 Chromosome 9, 34648167: 34648167
5 GALT NM_000155.3(GALT): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs111033663 GRCh37 Chromosome 9, 34647224: 34647224
6 GALT NM_000155.3(GALT): c.512T> C (p.Phe171Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033715 GRCh37 Chromosome 9, 34648116: 34648116
7 GALT NM_000155.3(GALT): c.957C> A (p.His319Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033792 GRCh37 Chromosome 9, 34649459: 34649459
8 GALT NM_000155.3(GALT): c.404C> T (p.Ser135Leu) single nucleotide variant Pathogenic rs111033690 GRCh37 Chromosome 9, 34647855: 34647855
9 GALT NM_000155.3(GALT): c.547C> A (p.Pro183Thr) single nucleotide variant Pathogenic rs111033721 GRCh37 Chromosome 9, 34648151: 34648151
10 GALT NM_000155.3(GALT): c.855G> T (p.Lys285Asn) single nucleotide variant Pathogenic rs111033773 GRCh37 Chromosome 9, 34649029: 34649029
11 GALT NM_000155.3(GALT): c.607G> A (p.Glu203Lys) single nucleotide variant Pathogenic rs111033736 GRCh37 Chromosome 9, 34648373: 34648373
12 GALT NM_000155.3(GALT): c.997C> G (p.Arg333Gly) single nucleotide variant Pathogenic rs111033800 GRCh37 Chromosome 9, 34649499: 34649499
13 GALT NM_000155.3(GALT): c.580T> C (p.Phe194Leu) single nucleotide variant Pathogenic rs111033726 GRCh37 Chromosome 9, 34648346: 34648346
14 GALK1 NM_000154.1(GALK1): c.94G> A (p.Val32Met) single nucleotide variant Pathogenic rs104894576 GRCh37 Chromosome 17, 73761124: 73761124
15 GALK1 NM_000154.1(GALK1): c.238G> T (p.Glu80Ter) single nucleotide variant Pathogenic rs104894577 GRCh37 Chromosome 17, 73760095: 73760095
16 GALK1 NM_000154.1(GALK1): c.82C> A (p.Pro28Thr) single nucleotide variant Pathogenic rs104894572 GRCh37 Chromosome 17, 73761136: 73761136
17 GALK1 NM_000154.1(GALK1): c.1144C> T (p.Gln382Ter) single nucleotide variant Pathogenic rs111033608 GRCh37 Chromosome 17, 73754172: 73754172
18 GALK1 GALK1, 1-BP DEL, 761G deletion Pathogenic
19 GALK1 NM_000154.1(GALK1): c.593C> T (p.Ala198Val) single nucleotide variant Pathogenic rs80084721 GRCh37 Chromosome 17, 73759113: 73759113
20 GALT NG_009029.1: g.(?_4752)_(?_9014) deletion Pathogenic
21 GALT NG_009029.1: g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del] indel Pathogenic
22 GALT NM_000155.3(GALT): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs111033639 GRCh37 Chromosome 9, 34646702: 34646702
23 GALT NM_000155.3(GALT): c.18delC (p.Asp7Ilefs) deletion Pathogenic/Likely pathogenic rs111033638 GRCh37 Chromosome 9, 34646719: 34646719
24 GALT NM_000155.3(GALT): c.25C> T (p.Gln9Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033848 GRCh37 Chromosome 9, 34646726: 34646726
25 GALT NM_000155.3(GALT): c.27G> C (p.Gln9His) single nucleotide variant Pathogenic rs111033637 GRCh37 Chromosome 9, 34646728: 34646728
26 GALT NM_000155.3(GALT): c.41delCinsTT (p.Ala14Valfs) indel Pathogenic/Likely pathogenic rs111033634 GRCh37 Chromosome 9, 34646742: 34646742
27 GALT NM_000155.3(GALT): c.67A> G (p.Thr23Ala) single nucleotide variant Pathogenic rs111033635 GRCh37 Chromosome 9, 34646768: 34646768
28 GALT NM_000155.3(GALT): c.82G> T (p.Asp28Tyr) single nucleotide variant Pathogenic rs111033636 GRCh37 Chromosome 9, 34646783: 34646783
29 GALT NM_000155.3(GALT): c.82G> C (p.Asp28His) single nucleotide variant Pathogenic rs111033636 GRCh37 Chromosome 9, 34646783: 34646783
30 GALT NM_000155.3(GALT): c.90G> C (p.Gln30His) single nucleotide variant Pathogenic rs111033834 GRCh37 Chromosome 9, 34647093: 34647093
31 GALT NM_000155.3(GALT): c.91C> A (p.His31Asn) single nucleotide variant Pathogenic rs111033643 GRCh37 Chromosome 9, 34647094: 34647094
32 GALT NM_000155.3(GALT): c.95T> A (p.Ile32Asn) single nucleotide variant Pathogenic rs111033644 GRCh37 Chromosome 9, 34647098: 34647098
33 GALT NM_000155.3(GALT): c.98G> A (p.Arg33His) single nucleotide variant Pathogenic rs111033829 GRCh37 Chromosome 9, 34647101: 34647101
34 GALT NM_000155.3(GALT): c.100T> A (p.Tyr34Asn) single nucleotide variant Pathogenic rs111033836 GRCh37 Chromosome 9, 34647103: 34647103
35 GALT NM_000155.3(GALT): c.113A> C (p.Gln38Pro) single nucleotide variant Pathogenic rs111033646 GRCh37 Chromosome 9, 34647116: 34647116
36 GALT NM_000155.3(GALT): c.130G> T (p.Val44Leu) single nucleotide variant Pathogenic rs111033647 GRCh37 Chromosome 9, 34647133: 34647133
37 GALT NM_000155.3(GALT): c.134_138delCAGCT (p.Ala46Profs) deletion Pathogenic rs111033651 GRCh37 Chromosome 9, 34647137: 34647141
38 GALT NM_000155.3(GALT): c.152G> T (p.Arg51Leu) single nucleotide variant Pathogenic rs111033648 GRCh37 Chromosome 9, 34647155: 34647155
39 GALT NM_000155.3(GALT): c.160C> T (p.Gln54Ter) single nucleotide variant Pathogenic rs111033649 GRCh37 Chromosome 9, 34647163: 34647163
40 GALT NM_000155.3(GALT): c.197C> A (p.Pro66His) single nucleotide variant Pathogenic rs111033656 GRCh37 Chromosome 9, 34647200: 34647200
41 GALT NM_000155.3(GALT): c.197C> T (p.Pro66Leu) single nucleotide variant Pathogenic rs111033656 GRCh37 Chromosome 9, 34647200: 34647200
42 GALT NM_000155.3(GALT): c.199C> T (p.Arg67Cys) single nucleotide variant Pathogenic rs111033658 GRCh37 Chromosome 9, 34647202: 34647202
43 GALT NM_000155.3(GALT): c.207_214delCCCTCTCA (p.Asp69Glufs) deletion Pathogenic rs111033655 GRCh37 Chromosome 9, 34647210: 34647217
44 GALT NM_000155.3(GALT): c.220_221insG (p.Leu74Argfs) insertion Pathogenic rs111033659 GRCh37 Chromosome 9, 34647223: 34647224
45 GALT NM_000155.3(GALT): c.238C> T (p.Arg80Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033664 GRCh37 Chromosome 9, 34647241: 34647241
46 GALT NM_000155.3(GALT): c.253-2A> G single nucleotide variant Pathogenic rs111033661 GRCh37 Chromosome 9, 34647487: 34647487
47 GALT NM_000155.3(GALT): c.265T> G (p.Tyr89Asp) single nucleotide variant Pathogenic rs111033666 GRCh37 Chromosome 9, 34647501: 34647501
48 GALT NM_000155.3(GALT): c.265T> C (p.Tyr89His) single nucleotide variant Pathogenic rs111033666 GRCh37 Chromosome 9, 34647501: 34647501
49 GALT NM_000155.3(GALT): c.285T> G (p.Phe95Leu) single nucleotide variant Pathogenic rs111033668 GRCh37 Chromosome 9, 34647521: 34647521
50 GALT NM_000155.3(GALT): c.290A> G (p.Asn97Ser) single nucleotide variant Pathogenic rs111033669 GRCh37 Chromosome 9, 34647526: 34647526

Expression for Galactosemia

Search GEO for disease gene expression data for Galactosemia.

Pathways for Galactosemia

GO Terms for Galactosemia

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

id Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.54 AMH BGLAP G6PD
2 gluconeogenesis GO:0006094 9.46 G6PC SLC25A13
3 carbohydrate metabolic process GO:0005975 9.46 G6PD GALE GALK1 GALT
4 response to food GO:0032094 9.43 G6PC G6PD
5 phosphate-containing compound metabolic process GO:0006796 9.4 G6PC IMPA1
6 glucose 6-phosphate metabolic process GO:0051156 9.32 G6PC G6PD
7 NADP metabolic process GO:0006739 9.26 G6PD NOX1
8 galactose metabolic process GO:0006012 9.13 GALE GALK1 GALT
9 galactose catabolic process GO:0019388 8.8 GALE GALK1 GALT

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

id 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

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