MCID: GLC006
MIFTS: 66

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 54 12 72 50 24 25 71 29 13 14
Galt Deficiency 50 24 25 56 71
Galactose-1-Phosphate Uridyltransferase Deficiency 50 24 56
Classic Galactosemia 24 25 56
Deficiency of Galactokinase 29 69
Classical Galactosemia 52 69
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease 25
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency 25
Galactose-1-Phosphate Uridylyltransferase Deficiency 71
Udp-Galactose-4-Epimerase Deficiency Disease 25
Udpglucose 4-Epimerase Deficiency Disease 69
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, Classic 50
Galactosemia Type 1 56
Gale Deficiency 25
Galk Deficiency 25
Galactosaemia 12
Galactosemias 69
Galct 71

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;

OMIM:

54
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 : 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 failure to thrive, dysarthria and ataxia. An important gene associated with Galactosemia is GALT (Galactose-1-Phosphate Uridylyltransferase), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Emtricitabine and Darunavir 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

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

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 : 72 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 72)
id Related Disease Score Top Affiliating Genes
1 galactose epimerase deficiency 33.3 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 childhood apraxia of speech 11.1
7 bile acid synthesis defect, congenital, 1 10.8
8 bile acid synthesis defect, congenital, 2 10.8
9 generalized galactose epimerase deficiency 10.8
10 erythrocyte galactose epimerase deficiency 10.8
11 fgfr-related craniosynostosis syndromes 10.4 GALE GALK1 GALT
12 poems syndrome 10.3 GIF TF
13 usher syndrome, type 1g 10.1 GALE GALK1 GALT SLC25A13
14 pancreatic steatorrhea 10.1 ALDOB GIF
15 microphthalmia, syndromic 13 10.1 G6PC G6PD
16 mediastinum leiomyoma 10.1 BGLAP GIF TF
17 retinitis 10.1
18 phenylketonuria 10.0
19 cerebritis 10.0
20 fanconi-bickel syndrome 9.9
21 cataract 9.9
22 hypothyroidism 9.9
23 hepatitis 9.9
24 early-onset zonular cataract 9.9 IL1B TF
25 hypogonadism 9.9
26 methylmalonic aciduria and homocystinuria type cblg 9.9 GIF TF
27 solitary bone cyst 9.9 ALDOB GIF
28 fructose intolerance, hereditary 9.8 ALDOB G6PC
29 siderosis 9.8
30 hemochromatosis 9.8
31 congenital hypothyroidism 9.8
32 hyperglycemia 9.8
33 neutropenia, severe congenital 4, autosomal recessive 9.8 ALDOB G6PC GALK1
34 cholestasis 9.7
35 biliary atresia 9.7
36 homocystinuria 9.7
37 biotinidase deficiency 9.7
38 endotheliitis 9.7
39 myopia 9.7
40 friedreich ataxia 9.7
41 chronic kidney failure 9.7 G6PD IL1B NOX1
42 perinephritis 9.6 ALDOB G6PC GALK1 GALT
43 rubella 9.6
44 learning disability 9.6
45 speech disorder 9.6
46 cryptorchidism 9.6
47 amenorrhea 9.6
48 hypoglycemia 9.6
49 alpha 1-antitrypsin deficiency 9.6
50 obstructive hydrocephalus 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:

54

Growth- Other:
failure to thrive

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

Head And Neck- Eyes:
cataract

Genitourinary- External Genitalia Female:
ovarian failure due to hypergonadotropic hypogonadism

Abdomen- Gastroin testinal:
diarrhea
vomiting

Neurologic:
mental retardation if untreated
speech abnormality if untreated

Hematology:
hemolytic anemia

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:

56 32 (show top 50) (show all 52)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 frequent (33%) Frequent (79-30%) HP:0001508
2 dysarthria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001260
3 ataxia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001251
4 tremor 56 32 frequent (33%) Occasional (29-5%) HP:0001337
5 jaundice 56 32 hallmark (90%) Very frequent (99-80%) HP:0000952
6 lethargy 56 32 hallmark (90%) Occasional (29-5%) HP:0001254
7 osteoporosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000939
8 intellectual disability 56 32 hallmark (90%) Frequent (79-30%) HP:0001249
9 hypoglycemia 56 32 occasional (7.5%) Very frequent (99-80%) HP:0001943
10 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
11 speech articulation difficulties 56 32 frequent (33%) Frequent (79-30%) HP:0009088
12 feeding difficulties 56 32 frequent (33%) Frequent (79-30%) HP:0011968
13 hepatic failure 56 32 hallmark (90%) Very frequent (99-80%) HP:0001399
14 weight loss 56 32 hallmark (90%) Very frequent (99-80%) HP:0001824
15 gait disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0001288
16 abnormal bleeding 56 32 hallmark (90%) Very frequent (99-80%) HP:0001892
17 sepsis 56 32 frequent (33%) Occasional (29-5%) HP:0100806
18 decreased fertility in females 56 32 frequent (33%) Frequent (79-30%) HP:0000868
19 speech apraxia 56 32 occasional (7.5%) Frequent (79-30%) HP:0011098
20 nausea and vomiting 56 32 hallmark (90%) Frequent (79-30%) HP:0002017
21 abnormality of the ovary 56 32 hallmark (90%) Very frequent (99-80%) HP:0000137
22 impairment of galactose metabolism 56 32 frequent (33%) Frequent (79-30%) HP:0004915
23 visual impairment 32 occasional (7.5%) HP:0000505
24 diarrhea 32 HP:0002014
25 cognitive impairment 32 hallmark (90%) HP:0100543
26 hepatomegaly 32 frequent (33%) HP:0002240
27 seizures 32 occasional (7.5%) HP:0001250
28 microcephaly 32 occasional (7.5%) HP:0000252
29 metabolic acidosis 32 HP:0001942
30 global developmental delay 32 hallmark (90%) HP:0001263
31 aminoaciduria 32 HP:0003355
32 vomiting 32 HP:0002013
33 renal insufficiency 32 occasional (7.5%) HP:0000083
34 hemolytic anemia 32 occasional (7.5%) HP:0001878
35 cirrhosis 32 HP:0001394
36 muscular hypotonia 32 frequent (33%) HP:0001252
37 feeding difficulties in infancy 32 hallmark (90%) HP:0008872
38 hypergonadotropic hypogonadism 32 HP:0000815
39 ascites 32 frequent (33%) HP:0001541
40 decreased liver function 32 HP:0001410
41 neonatal death 56 Occasional (29-5%)
42 growth delay 32 frequent (33%) HP:0001510
43 failure to thrive in infancy 32 hallmark (90%) HP:0001531
44 hyperchloremic metabolic acidosis 32 HP:0004918
45 galactosuria 32 HP:0012023
46 hypogonadotrophic hypogonadism 32 occasional (7.5%) HP:0000044
47 edema of the lower limbs 32 frequent (33%) HP:0010741
48 abnormality of movement 56 Occasional (29-5%)
49 abnormality of the voice 32 frequent (33%) HP:0001608
50 abnormality of coagulation 32 frequent (33%) HP:0001928

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 9.23 AGA ALDOB AMH BGLAP GALE GALT

MGI Mouse Phenotypes related to Galactosemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 NOX1 SLC25A13 TF AGA AMH FSHB

Drugs & Therapeutics for Galactosemia

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

(show all 37)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
2
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
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 376348-65-1 3002977
6 Anti-HIV Agents Phase 4
7 Anti-Infective Agents Phase 4
8 Anti-Retroviral Agents Phase 4
9 Antiviral Agents Phase 4
10 HIV Integrase Inhibitors Phase 4
11 Integrase Inhibitors Phase 4
12 Nucleic Acid Synthesis Inhibitors Phase 4
13 Raltegravir Potassium Phase 4
14 Reverse Transcriptase Inhibitors Phase 4
15
Tenofovir Phase 4 147127-20-6 464205
16 Cytochrome P-450 CYP3A Inhibitors Phase 4
17 Cytochrome P-450 Enzyme Inhibitors Phase 4
18 HIV Protease Inhibitors Phase 4
19
protease inhibitors Phase 4
20 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
21 Cytochrome P-450 CYP3A Inducers Phase 4
22 Acidophilus Nutraceutical Phase 3
23 glutamine Nutraceutical Phase 1, Phase 2
24 Vedolizumab Approved Phase 1 943609-66-3
25 Antibodies Phase 1
26 Immunoglobulins Phase 1
27 Antibodies, Monoclonal Phase 1
28 Gastrointestinal Agents Phase 1
29
Enfuvirtide Approved, Investigational 159519-65-0 16130199
30 Follicle Stimulating Hormone
31 Hormone Antagonists
32 Hormones
33 Hormones, Hormone Substitutes, and Hormone Antagonists
34 Caseins
35 Soy Bean Nutraceutical
36 Whey Protein Nutraceutical
37 Cola Nutraceutical

Interventional clinical trials:

(show all 23)

id Name Status NCT ID Phase Drugs
1 HIV Persistence and Viral Reservoirs Unknown status NCT01025427 Phase 4 Raltegravir, tenofovir/emtricitabine
2 Mechanisms of Immune Reconstitution & Reduced Immune Activation Following Darunavir-based ART Completed NCT01869634 Phase 4 darunavir with ritonavir and fixed-dose viread+emtricitabine daily
3 A Pilot Project of Virologic, Pharmacologic and Immunologic Correlates of Gastrointestinal-Associated Lymphoid Tissue Immune Reconstitution Following Maraviroc Therapy Completed NCT00870363 Phase 4 maraviroc in combination with 2 NRTIs (dual nucleoside reverse transcriptase inhibitor);maraviroc plus raltegravir in combination with 2 NRTIs (dual nucleoside reverse transcriptase inhibitor);efavirenz [or other NNRTI (non-nucleoside reverse transcriptase inhibitor)]
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 Active, not recruiting NCT01838915 Phase 1, Phase 2
6 Vedolizumab (Anti-alpha4beta7) in Subjects With HIV Infection Undergoing Analytical Treatment Interruption Recruiting NCT02788175 Phase 1
7 Inactive FSH in Galactosemia Unknown status NCT00619333 follitropin and lutropin
8 The Role of Human Milk in Development of Breast Fed Child's Intestinal Microbiota Unknown status NCT01548313
9 Glycosylation in Patients With Galactosaemia Completed NCT02218632
10 Pregnancy Chances in Classic Galactosemia Completed NCT02091128
11 Gut Associated Lymphatic Tissue (GALT) in HIV (Human Immunodeficiency Virus)- Infected Patients Completed NCT01679067
12 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
13 The Early History of Universal Screening for Metabolic Disorders Completed NCT00309400
14 Pilot Project of Virologic and Immunologic Correlates of GALT Immune Reconstitution Following Raltegravir Therapy Completed NCT00661960 raltegravir;efavirenz
15 Impact of Pre-ART Blood CD4+ T Cell Level on the Rectal Reservoir in Long-term HIV-1 Treated Men Completed NCT02526940
16 Fuzeon Viral Decay Pilot Study Completed NCT00334022 enfuvirtide
17 Impact of SBI, a Medical Food, on Nutritional Status in Patients With HIV-associated Enteropathy Completed NCT01828593
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 The Lymphoid Tissue Pharmacology of Antiretroviral Drugs Not yet recruiting NCT02707926 Anti-HIV Agents
23 Raltegravir Activity In Lymphoid Tissues Withdrawn NCT00863668 Efavirenz + Tenofovir DF/Emtricitabine;Raltegravir + Tenofovir DF/Emtricitabine

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, Ovary, Eye, Breast

Publications for Galactosemia

Articles related to Galactosemia:

(show top 50) (show all 569)
id Title Authors Year
1
Brain MRI in a patient with classical galactosemia: acute event of unilateral hemispheric cerebral edema. ( 28900716 )
2017
2
The galactose-induced decrease in phosphate levels leads to toxicity in yeast models of galactosemia. ( 28213126 )
2017
3
Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia. ( 28831125 )
2017
4
Classical galactosemia: Insight into molecular pathomechanisms by differential membrane proteomics of fibroblasts under galactose stress. ( 28075131 )
2017
5
Neonatal Screening: Cost-utility Analysis for Galactosemia. ( 28451536 )
2017
6
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
7
Galactose 1 Phosphate Uridyltransferase Deficiency (Galactosemia) ( 28722986 )
2017
8
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family. ( 28450132 )
2017
9
Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities. ( 28932969 )
2017
10
Impaired fertility and motor function in a zebrafish model for classic galactosemia. ( 28913702 )
2017
11
Evidence for dopaminergic denervation in classical galactosemia. ( 28370299 )
2017
12
Vertically-Oriented and Shape-Tailored Electrocatalytic Metal Nanowire Arrays for Enzyme-Free Galactosemia Rapid Diagnosis. ( 28370567 )
2017
13
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. ( 28078493 )
2017
14
Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model. ( 28545161 )
2017
15
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
16
Fertility in adult women with classic galactosemia and primary ovarian insufficiency. ( 28579413 )
2017
17
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. ( 28391442 )
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
Sweet and sour: an update on classic galactosemia. ( 28281081 )
2017
20
Drosophila melanogaster Models of Galactosemia. ( 28057307 )
2017
21
Classic Galactosemia: Indian Scenario. ( 26840665 )
2016
22
Evidence of oxidative stress in brain and liver of young rats submitted to experimental galactosemia. ( 27389247 )
2016
23
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations. ( 27176039 )
2016
24
Teaching NeuroImages: Galactitol peak and fatal cerebral edema in classic galactosemia: Too much sugar in the brain. ( 26783274 )
2016
25
Liver Failure, Hepatic Siderosis, and Membrane Attack Complexes: Neonatal Hemochromatosis and/or Galactosemia?: RETRACTED. ( 27403610 )
2016
26
The galactosemia network (GalNet). ( 27837294 )
2016
27
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
28
Galactosemia , A Not to be Missed Inborn Error of Metabolism. ( 26840664 )
2016
29
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase. ( 27005423 )
2016
30
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. ( 27858262 )
2016
31
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation. ( 27562100 )
2016
32
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. ( 27995581 )
2016
33
Grey matter density decreases as well as increases in patients with classic galactosemia: A voxel-based morphometry study. ( 27502028 )
2016
34
Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center. ( 26840667 )
2016
35
Clinical, molecular, and genetic evaluation of galactosemia in Turkish children. ( 28123333 )
2016
36
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models. ( 27466186 )
2016
37
Gastrointestinal Health in Classic Galactosemia. ( 27363831 )
2016
38
Using a Personal Glucose Meter and Alkaline Phosphatase for Point-of-Care Quantification of Galactose-1-Phosphate Uridyltransferase in Clinical Galactosemia Diagnosis. ( 26350570 )
2015
39
Rapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma. ( 25622686 )
2015
40
Consensus on the guidelines for the dietary management of classical galactosemia. ( 28531441 )
2015
41
Negative Urine Benedict's Test in a Child with Galactosemia: A Diagnostic Challenge. ( 25680784 )
2015
42
A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia. ( 25681079 )
2015
43
Capillary bedside blood glucose measurement in neonates: missing a diagnosis of galactosemia. ( 25800483 )
2015
44
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia. ( 25920691 )
2015
45
The molecular basis of galactosemia - Past, present and future. ( 26143117 )
2015
46
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study. ( 26053138 )
2015
47
Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia. ( 26217714 )
2015
48
Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study. ( 25681083 )
2015
49
Affected functional networks associated with sentence production in classic galactosemia. ( 25979518 )
2015
50
Spontaneous Recovery of Ovarian Function in an Adolescent with Galactosemia and Apparent Premature Ovarian Insufficiency. ( 26024933 )
2015

Variations for Galactosemia

UniProtKB/Swiss-Prot genetic disease variations for Galactosemia:

71 (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

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

id 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)
id Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.63 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 9.43 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:

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

3 CDC
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10 dbSNP
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16 ExPASy
18 FMA
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