GALCT
MCID: GLC006
MIFTS: 63

Galactosemia (GALCT)

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

Aliases & Classifications for Galactosemia

MalaCards integrated aliases for Galactosemia:

Name: Galactosemia 57 12 75 53 25 59 74 37 29 13 6 15 40
Galt Deficiency 57 53 25 59 74
Galactose-1-Phosphate Uridylyltransferase Deficiency 57 75 74
Classic Galactosemia 53 25 59
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease 53 25
Galactose-1-Phosphate Uridyltransferase Deficiency 53 59
Classical Galactosemia 55 72
Galactosemia, Classic 57 53
Galactosemia Type 1 53 59
Galactosemias 55 72
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency 25
Galactose-1-Phosphate Uridyl Transferase Deficiency 53
Galactose-1-Phosphate Uridyltranferase Deficiency 53
Udp-Galactose-4-Epimerase Deficiency Disease 25
Udpglucose 4-Epimerase Deficiency Disease 72
Epimerase Deficiency Galactosemia 25
Galactokinase Deficiency Disease 25
Galactose Epimerase Deficiency 25
Deficiency of Galactokinase 72
Galactose Intolerance 12
Galk Deficiency 25
Gale Deficiency 25
Galactosaemia 12
Galct 74

Characteristics:

Orphanet epidemiological data:

59
galactosemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood,Infancy,Neonatal;
classic galactosemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
galactosemia:
Clinical modifier neonatal death
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:9870
OMIM 57 230400
KEGG 37 H00070
ICD9CM 35 271.1
MeSH 44 D005693
NCIt 50 C84723
SNOMED-CT 68 38177000
ICD10 33 E74.21
MESH via Orphanet 45 D005693
ICD10 via Orphanet 34 E74.2
UMLS via Orphanet 73 C0016952 C0268151
UMLS 72 C0016952 C0268151 C0268155 more

Summaries for Galactosemia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79239DefinitionA life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.EpidemiologyGlobal prevalence is unknown but estimated annual incidence has been reported to be between 1/40,000 and 1/60,000 in Western countries. The disorder appears to be more common in the Caucasian population than in other ethnic groups but figures in other populations may be underestimated. Males and females are equally affected.Clinical descriptionWhen ingesting breast milk or lactose-containing formula, infants develop feeding problems, failure to thrive, and signs of liver damage (jaundice, bleeding tendency, hypoglycemia). In the absence of appropriate treatment (galactose restriction), sepsis (E-coli) and neonatal death may occur. Despite adequate treatment, long-term complications appear including cognitive impairments, motor deficits, ovarian dysfunction with reduced fertility in women and diminished bone density. Male fertility has not yet been thoroughly studied.EtiologyClassic galactosemia is caused by mutations in the GALT (9p13) gene encoding the galactose-1-phosphate uridyltransferase enzyme. Mutations that severely impair enzyme activity result in the classic galactosemia phenotype. The so-called variants are mutations associated with higher residual enzyme activity resulting in milder or no features of galactosemia such as the Duarte variant (GALT gene mutation).Diagnostic methodsIn many countries, infants are routinely screened for galactosemia at birth. When neonatal screening is not performed, diagnosis is based on the clinical picture. Diagnosis can be confirmed by assay of the relevant metabolites, enzyme activity and GALT gene mutational analysis.Differential diagnosisDifferential diagnoses include galactose epimerase deficiency and other diseases causing acute liver disease in the neonate.Antenatal diagnosisPrenatal testing is usually performed via gene mutation analysis by chorionic villus sampling. In at-risk relatives, testing is also possible to search for the mutation when already identified in a family.Genetic counselingGalactosemia follows an autosomal recessive pattern of inheritance. Parents of an affected child have a 25% chance of having affected children in subsequent pregnancies.Management and treatmentTreatment is based primarily on galactose restriction in the diet. Infants should be fed with soy formula or other lactose-free formula. Patients are advised to follow a lifelong diet. To prevent a diminished bone mass, calcium, vitamin D and vitamin K supplements are recommended if dietary intake does not meet the recommended daily allowance. Monitoring of cognitive and motor development, gonadal function and bone mass is mandatory. Eye examinations are recommended in case of neonatal cataracts or in case of poor dietary compliance. Despite dietary treatment long-term complications occur.PrognosisPrognosis is dependent on age of diagnosis, disease severity and compliance with dietary restrictions, which affects the onset and course of secondary complications.Visit the Orphanet disease page for more resources.

MalaCards based summary : Galactosemia, also known as galt deficiency, is related to galactose epimerase deficiency and epimerase deficiency galactosemia, and has symptoms including vomiting, diarrhea and icterus. An important gene associated with Galactosemia is GALT (Galactose-1-Phosphate Uridylyltransferase), and among its related pathways/superpathways are Galactose metabolism and Amino sugar and nucleotide sugar metabolism. The drugs Aspartic acid and N-Methylaspartate have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and eye, and related phenotypes are intellectual disability and nausea and vomiting

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

Genetics Home Reference : 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. Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose. Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and abnormal bleeding. Other serious complications of this condition can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems caused by an early loss of function of the ovaries (premature ovarian insufficiency). Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.

OMIM : 57 Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006). (230400)

KEGG : 37
Galactosemia is an autosomal recessive disorder caused by a defect in one of the three enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar. Without treatment, toxic metabolites can cause severe growth problems including cataracts.

UniProtKB/Swiss-Prot : 74 Galactosemia: Inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation.

Wikipedia : 75 Galactosemia (British galactosaemia, from Greek ????????? + ????, meaning galactose + blood,... more...

Related Diseases for Galactosemia

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

(show top 50) (show all 189)
# Related Disease Score Top Affiliating Genes
1 galactose epimerase deficiency 34.1 GALT GALK1 GALE
2 epimerase deficiency galactosemia 34.0 GALT GALK1 GALE
3 galactokinase deficiency 34.0 GALT GALK1 GALE
4 carbohydrate metabolic disorder 30.6 GALT GALK1
5 phenylketonuria 30.5 G6PD BGLAP
6 hyperphenylalaninemia 30.1 G6PD BGLAP
7 duarte variant galactosemia 12.8
8 fructose and galactose intolerance 12.6
9 classic galactosemia and clinical variant galactosemia 12.5
10 childhood apraxia of speech 11.5
11 generalized galactose epimerase deficiency 11.5
12 bile acid synthesis defect, congenital, 2 11.2
13 bile acid synthesis defect, congenital, 1 11.2
14 hypermethioninemia 11.2
15 erythrocyte galactose epimerase deficiency 11.2
16 cataract 10.7
17 autosomal recessive disease 10.6
18 disorder of galactose metabolism 10.5
19 noonan syndrome 8 10.5 GALK1 GALE
20 apraxia 10.4
21 hypogonadism 10.4
22 hypogonadotropism 10.4
23 premature ovarian failure 1 10.4
24 microvascular complications of diabetes 5 10.4
25 hyperglycemia 10.4
26 tremor 10.4
27 ataxia and polyneuropathy, adult-onset 10.3
28 inherited metabolic disorder 10.3
29 ovarian disease 10.3
30 bilirubin metabolic disorder 10.3
31 hypoglycemia 10.3
32 fructose intolerance, hereditary 10.2
33 hypothyroidism 10.2
34 hydrops, lactic acidosis, and sideroblastic anemia 10.2
35 speech disorder 10.2
36 aminoaciduria 10.2
37 splenomegaly 10.2
38 hypotonia 10.2
39 dilated cardiomyopathy 10.2
40 senile cataract 10.2 G6PD CRYAA
41 congenital hypothyroidism 10.2
42 amenorrhea 10.2
43 movement disease 10.2
44 liver cirrhosis 10.2
45 congenital disorders of n-linked glycosylation and multiple pathway 10.2
46 mccune-albright syndrome 10.1 BGLAP AMH
47 hemochromatosis, neonatal 10.1
48 hemochromatosis, type 1 10.1
49 biotinidase deficiency 10.1
50 siderosis 10.1

Graphical network of the top 20 diseases related to Galactosemia:



Diseases related to Galactosemia

Symptoms & Phenotypes for Galactosemia

Human phenotypes related to Galactosemia:

59 32 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001249
2 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002017
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
5 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
6 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000939
7 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001943
8 abnormal bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0001892
9 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
10 abnormality of the ovary 59 32 hallmark (90%) Very frequent (99-80%) HP:0000137
11 failure to thrive in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001531
12 jaundice 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000952
13 hepatic failure 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001399
14 lethargy 59 32 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001254
15 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
16 tremor 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001337
17 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
18 cataract 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000518
19 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
20 ascites 59 32 frequent (33%) Frequent (79-30%) HP:0001541
21 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
22 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
23 abnormality of the voice 59 32 frequent (33%) Frequent (79-30%) HP:0001608
24 sepsis 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0100806
25 abnormality of coagulation 59 32 frequent (33%) Frequent (79-30%) HP:0001928
26 speech apraxia 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0011098
27 decreased fertility in females 59 32 frequent (33%) Frequent (79-30%) HP:0000868
28 speech articulation difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0009088
29 impairment of galactose metabolism 59 32 frequent (33%) Frequent (79-30%) HP:0004915
30 pedal edema 32 frequent (33%) HP:0010741
31 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
32 ataxia 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001251
33 dysarthria 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001260
34 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
35 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
36 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
37 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
38 hemolytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001878
39 hypogonadotrophic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000044
40 neurological speech impairment 59 Frequent (79-30%)
41 vomiting 32 HP:0002013
42 aminoaciduria 32 HP:0003355
43 abnormality of metabolism/homeostasis 59 Very frequent (99-80%)
44 decreased liver function 32 HP:0001410
45 abnormality of movement 59 Occasional (29-5%)
46 cirrhosis 32 HP:0001394
47 premature ovarian insufficiency 32 HP:0008209
48 hypergonadotropic hypogonadism 32 HP:0000815
49 diarrhea 32 HP:0002014
50 metabolic acidosis 32 HP:0001942

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

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

Hematology:
hemolytic anemia

Genitourinary External Genitalia Female:
ovarian failure due to hypergonadotropic hypogonadism

Head And Neck Eyes:
cataract

Abdomen Gastrointestinal:
vomiting
diarrhea

Neurologic:
mental retardation if untreated
speech abnormality if untreated

Laboratory Abnormalities:
galactose-1-phosphate uridyltransferase deficiency
in untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria

Clinical features from OMIM:

230400

UMLS symptoms related to Galactosemia:


vomiting, diarrhea, icterus

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 9.26 BGLAP CD36 G6PD IL11RA
2 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 9.1 AMH BGLAP CRYAA GALK1 GALT IL11RA

Drugs & Therapeutics for Galactosemia

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspartic acid Approved, Nutraceutical Phase 2 56-84-8 5960
2 N-Methylaspartate Phase 2
3 Neurotransmitter Agents Phase 2
4 arginine Phase 2
5 Excitatory Amino Acids Phase 2
6 Excitatory Amino Acid Agonists Phase 2
7
Warfarin Approved Phase 1 81-81-2 6691 54678486
8 Pharmaceutical Solutions Phase 1
9 Follicle Stimulating Hormone
10 Hormones
11 Hormone Antagonists
12 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Does Arginine Enhance Galactose Oxidative Capacity in Classic Galactosemia: A Pilot Study Completed NCT03580122 Phase 2 Arginine Aspartate
2 Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of Glycosylation Terminated NCT02511041 Phase 1 N-Acetylglucosamine (GlcNAc);Uridine
3 The Role of Inactive Follicle Stimulating Hormone in Ovarian Dysfunction in Galactosemia Unknown status NCT00619333 follitropin and lutropin
4 Premature Ovarian Failure : Genetic and Physiopathologic Analysis Unknown status NCT00780897
5 Intervention and Outcomes in Duarte Galactosemia Completed NCT02519504
6 Pregnancy Chances in Classic Galactosemia Completed NCT02091128
7 Galactosaemia, a Modifiable Multi-system Glycosylation Disorder? Completed NCT02218632
8 The Early History of Universal Screening for Metabolic Disorders Completed NCT00309400
9 Babble Boot Camp: Preventing Speech and Language Disorders in Children With Classic Galactosemia Recruiting NCT03838016

Search NIH Clinical Center for Galactosemia

Genetic Tests for Galactosemia

Genetic tests related to Galactosemia:

# Genetic test Affiliating Genes
1 Galactosemia 29

Anatomical Context for Galactosemia

MalaCards organs/tissues related to Galactosemia:

41
Liver, Testes, Eye, Bone, Ovary, Kidney, Breast

Publications for Galactosemia

Articles related to Galactosemia:

(show top 50) (show all 1516)
# Title Authors PMID Year
1
Verbal dyspraxia and galactosemia. 9 38 8 71
12595586 2003
2
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. 9 38 8 71
10408771 1999
3
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase. 38 8 71
19224951 2009
4
Classical galactosaemia revisited. 38 8 71
16838075 2006
5
The molecular biology of galactosemia. 38 8 71
11261429 1998
6
The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative. 38 8 71
8943248 1996
7
Molecular characterization of galactosemia (type 1) mutations in Japanese. 38 8 71
7550229 1995
8
A common mutation associated with the Duarte galactosemia allele. 38 8 71
8198125 1994
9
Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. 8 71
10439960 1999
10
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. 9 38 71
9222760 1997
11
Duarte Variant Galactosemia 38 71
25473725 2014
12
Epimerase Deficiency Galactosemia 38 71
21290786 2011
13
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. 38 8
18207281 2008
14
Neonatal screening, clinical features and genetic testing for galactosemia. 38 71
15775761 2005
15
Molecular analysis in newborns from Texas affected with galactosemia. 38 71
11754113 2002
16
Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. 38 8
11511927 2001
17
Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia. 38 71
11286503 2001
18
Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes. 38 71
10960497 2000
19
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R). 38 71
10649501 2000
20
Classic Galactosemia and Clinical Variant Galactosemia 38 71
20301691 2000
21
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. 38 71
9538513 1998
22
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. 38 71
9326324 1997
23
Molecular basis for Duarte and Los Angeles variant galactosemia. 38 8
9012409 1997
24
Vitreous hemorrhage as an ophthalmic complication of galactosemia. 38 8
8969739 1996
25
Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase. 38 8
8692963 1996
26
A prevalent mutation for galactosemia among black Americans. 38 71
8551426 1996
27
Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations. 38 8
7868133 1995
28
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. 38 8
7887416 1995
29
Molecular characterization of the H319Q galactosemia mutation. 38 71
8499924 1993
30
Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase. 38 71
1610789 1992
31
Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia. 38 71
1373122 1992
32
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. 38 71
1897530 1991
33
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. 38 71
2011574 1991
34
Effect of lactation in a mother with galactosemia. 38 8
2754558 1989
35
Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants. 38 8
6321325 1984
36
Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells. 38 8
6340612 1983
37
A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate. 38 8
6247691 1980
38
Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency. 38 8
472754 1979
39
Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote. 38 8
627109 1978
40
Sepsis due to Escherichia coli in neonates with galactosemia. 38 8
331112 1977
41
Rennes-like variant of galactosemia: clinical and biochemical studies. 38 8
1151546 1975
42
The genetic defect in galactosemia. 38 8
46587 1975
43
Detection of inborn errors of metabolism: galactosemia. 38 8
4689218 1973
44
[A family with galactosemia and "Duarte variant"]. 38 8
5082089 1972
45
Galactosemia: evidence for a structural gene mutation. 38 8
4995463 1971
46
Galactosemia screening of newborns in Massachusetts. 38 8
4926707 1971
47
Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity. 38 8
5289034 1970
48
Galactosemia in a 24-year-old man; detection by enzyme studies. 38 8
5637893 1968
49
Clinical variants of galactosemia. 38 8
5337683 1967
50
Galactose conversion to D-xylulose: an alternate route of galactose metabolism. 38 8
5938779 1966

Variations for Galactosemia

ClinVar genetic disease variations for Galactosemia:

6 (show top 50) (show all 339)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GALT NM_000155.4(GALT): c.652C> T (p.Leu218=) single nucleotide variant Benign/Likely benign, other rs2070075 9:34648418-34648418 9:34648421-34648421
2 GALT NM_000155.4(GALT): c.855G> T (p.Lys285Asn) single nucleotide variant Pathogenic rs111033773 9:34649029-34649029 9:34649032-34649032
3 GALT NM_000155.4(GALT): c.997C> G (p.Arg333Gly) single nucleotide variant Pathogenic rs111033800 9:34649499-34649499 9:34649502-34649502
4 GALT NM_000155.4(GALT): c.580T> C (p.Phe194Leu) single nucleotide variant Pathogenic rs111033726 9:34648346-34648346 9:34648349-34648349
5 GALT NM_000155.4(GALT): c.563A> G (p.Gln188Arg) single nucleotide variant Pathogenic rs75391579 9:34648167-34648167 9:34648170-34648170
6 GALT NM_000155.4(GALT): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs111033663 9:34647224-34647224 9:34647227-34647227
7 GALT NM_000155.4(GALT): c.616C> T (p.Gln206Ter) single nucleotide variant Pathogenic rs1554709366 9:34648382-34648382 9:34648385-34648385
8 GALT NM_000155.4(GALT): c.425T> A (p.Met142Lys) single nucleotide variant Pathogenic rs111033695 9:34647876-34647876 9:34647879-34647879
9 GALT NM_000155.4(GALT): c.130G> A (p.Val44Met) single nucleotide variant Pathogenic rs111033647 9:34647133-34647133 9:34647136-34647136
10 GALT NG_009029.1: g.(?_4752)_(?_9014) deletion Pathogenic
11 GALT NG_009029.1: g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del] indel Pathogenic
12 GALT NM_000155.2(GALT): c.-119_-116delGTCA short repeat Pathogenic rs111033640 9:34646583-34646586 9:34646586-34646589
13 GALT NM_000155.4(GALT): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs111033639 9:34646702-34646702 9:34646705-34646705
14 GALT NM_000155.4(GALT): c.67A> G (p.Thr23Ala) single nucleotide variant Pathogenic rs111033635 9:34646768-34646768 9:34646771-34646771
15 GALT NM_000155.4(GALT): c.82G> T (p.Asp28Tyr) single nucleotide variant Pathogenic rs111033636 9:34646783-34646783 9:34646786-34646786
16 GALT NM_000155.4(GALT): c.82G> C (p.Asp28His) single nucleotide variant Pathogenic rs111033636 9:34646783-34646783 9:34646786-34646786
17 GALT NM_000155.4(GALT): c.90G> C (p.Gln30His) single nucleotide variant Pathogenic rs111033834 9:34647093-34647093 9:34647096-34647096
18 GALT NM_000155.4(GALT): c.95T> A (p.Ile32Asn) single nucleotide variant Pathogenic rs111033644 9:34647098-34647098 9:34647101-34647101
19 GALT NC_000009.11: g.(?_34645556)_(34651235_?)del deletion Pathogenic 9:34645556-34651235 9:34645559-34651238
20 GALT NC_000009.11: g.(?_34646583)_(34651235_?)del deletion Pathogenic 9:34646583-34651235 9:34646586-34651238
21 GALT NM_000155.4(GALT): c.113A> C (p.Gln38Pro) single nucleotide variant Pathogenic rs111033646 9:34647116-34647116 9:34647119-34647119
22 GALT NM_000155.4(GALT): c.152G> T (p.Arg51Leu) single nucleotide variant Pathogenic rs111033648 9:34647155-34647155 9:34647158-34647158
23 GALT NM_000155.4(GALT): c.160C> T (p.Gln54Ter) single nucleotide variant Pathogenic rs111033649 9:34647163-34647163 9:34647166-34647166
24 GALT NM_000155.4(GALT): c.197C> A (p.Pro66His) single nucleotide variant Pathogenic rs111033656 9:34647200-34647200 9:34647203-34647203
25 GALT NM_000155.4(GALT): c.199C> T (p.Arg67Cys) single nucleotide variant Pathogenic rs111033658 9:34647202-34647202 9:34647205-34647205
26 GALT NM_000155.4(GALT): c.207_214del (p.Asp69fs) deletion Pathogenic rs111033655 9:34647210-34647217 9:34647213-34647220
27 GALT NM_000155.4(GALT): c.220_221insG (p.Leu74fs) insertion Pathogenic rs111033659 9:34647223-34647224 9:34647226-34647227
28 GALT NM_000155.4(GALT): c.253-2A> G single nucleotide variant Pathogenic rs111033661 9:34647487-34647487 9:34647490-34647490
29 GALT NM_000155.4(GALT): c.265T> G (p.Tyr89Asp) single nucleotide variant Pathogenic rs111033666 9:34647501-34647501 9:34647504-34647504
30 GALT NM_000155.4(GALT): c.265T> C (p.Tyr89His) single nucleotide variant Pathogenic rs111033666 9:34647501-34647501 9:34647504-34647504
31 GALT NM_000155.4(GALT): c.285T> G (p.Phe95Leu) single nucleotide variant Pathogenic rs111033668 9:34647521-34647521 9:34647524-34647524
32 GALT NM_000155.4(GALT): c.130G> T (p.Val44Leu) single nucleotide variant Pathogenic rs111033647 9:34647133-34647133 9:34647136-34647136
33 GALT NM_000155.4(GALT): c.136_140del (p.Ala46fs) deletion Pathogenic rs111033651 9:34647137-34647141 9:34647140-34647144
34 GALT NM_000155.4(GALT): c.328+2T> C single nucleotide variant Pathogenic rs111033849 9:34647566-34647566 9:34647569-34647569
35 GALT NM_000155.4(GALT): c.308A> G (p.Gln103Arg) single nucleotide variant Pathogenic rs367543252 9:34647544-34647544 9:34647547-34647547
36 GALT NM_000155.4(GALT): c.334dup (p.Ser112fs) duplication Pathogenic rs111033676 9:34647659-34647659 9:34647662-34647662
37 GALT NM_000155.4(GALT): c.336T> C (p.Ser112=) single nucleotide variant Pathogenic rs367543254 9:34647661-34647661 9:34647664-34647664
38 GALT NM_000155.4(GALT): c.337G> A (p.Asp113Asn) single nucleotide variant Pathogenic rs111033677 9:34647662-34647662 9:34647665-34647665
39 GALT NM_000155.4(GALT): c.341A> T (p.His114Leu) single nucleotide variant Pathogenic rs111033678 9:34647666-34647666 9:34647669-34647669
40 GALT NM_000155.4(GALT): c.350T> C (p.Phe117Ser) single nucleotide variant Pathogenic rs111033679 9:34647675-34647675 9:34647678-34647678
41 GALT NM_000155.4(GALT): c.354A> C (p.Gln118His) single nucleotide variant Pathogenic rs111033673 9:34647679-34647679 9:34647682-34647682
42 GALT NM_000155.4(GALT): c.368G> A (p.Arg123Gln) single nucleotide variant Pathogenic rs111033675 9:34647693-34647693 9:34647696-34647696
43 GALT NM_000155.4(GALT): c.374T> C (p.Val125Ala) single nucleotide variant Pathogenic rs111033680 9:34647699-34647699 9:34647702-34647702
44 GALT NM_000155.4(GALT): c.377+1G> T single nucleotide variant Pathogenic rs111033681 9:34647703-34647703 9:34647706-34647706
45 GALT NM_000155.3(GALT): c.377+53_1059+87del deletion Pathogenic 9:34647755-34649648 9:34647758-34649651
46 GALT NM_000155.4(GALT): c.392T> G (p.Phe131Cys) single nucleotide variant Pathogenic rs111033684 9:34647843-34647843 9:34647846-34647846
47 GALT NM_000155.4(GALT): c.400del (p.Trp134fs) deletion Pathogenic rs111033689 9:34647851-34647851 9:34647854-34647854
48 GALT NM_000155.4(GALT): c.424A> G (p.Met142Val) single nucleotide variant Pathogenic rs111033692 9:34647875-34647875 9:34647878-34647878
49 GALT NM_000155.4(GALT): c.425T> C (p.Met142Thr) single nucleotide variant Pathogenic rs111033695 9:34647876-34647876 9:34647879-34647879
50 GALT NM_000155.4(GALT): c.442C> G (p.Arg148Gly) single nucleotide variant Pathogenic rs111033693 9:34647893-34647893 9:34647896-34647896

UniProtKB/Swiss-Prot genetic disease variations for Galactosemia:

74 (show top 50) (show all 134)
# Symbol AA change Variation ID SNP ID
1 GALT p.Asp28Tyr VAR_002548 rs111033636
2 GALT p.Ile32Asn VAR_002549 rs111033644
3 GALT p.Gln38Pro VAR_002550 rs111033646
4 GALT p.Val44Leu VAR_002551 rs111033647
5 GALT p.Val44Met VAR_002552 rs111033647
6 GALT p.Arg51Leu VAR_002553 rs111033648
7 GALT p.Gly55Cys VAR_002554 rs111033654
8 GALT p.Arg67Cys VAR_002556 rs111033658
9 GALT p.Leu74Pro VAR_002557 rs111033663
10 GALT p.Ala81Thr VAR_002558 rs111033665
11 GALT p.Asn97Ser VAR_002559 rs111033669
12 GALT p.Asp98Asn VAR_002560 rs111033670
13 GALT p.Asp113Asn VAR_002561 rs111033677
14 GALT p.His114Leu VAR_002562 rs111033678
15 GALT p.Phe117Ser VAR_002563 rs111033679
16 GALT p.Gln118His VAR_002564 rs111033673
17 GALT p.Arg123Gly VAR_002565 rs111033674
18 GALT p.Arg123Gln VAR_002566 rs111033675
19 GALT p.Val125Ala VAR_002567 rs111033680
20 GALT p.Lys127Glu VAR_002568 rs111033682
21 GALT p.Cys130Tyr VAR_002569 rs367543255
22 GALT p.His132Tyr VAR_002570 rs111033688
23 GALT p.Ser135Leu VAR_002571 rs111033690
24 GALT p.Thr138Met VAR_002572 rs111033686
25 GALT p.Leu139Pro VAR_002573 rs111033687
26 GALT p.Met142Lys VAR_002574 rs111033695
27 GALT p.Met142Val VAR_002575 rs111033692
28 GALT p.Ser143Leu VAR_002576 rs111033697
29 GALT p.Arg148Gly VAR_002577 rs111033693
30 GALT p.Arg148Gln VAR_002578 rs111033694
31 GALT p.Arg148Trp VAR_002579 rs111033693
32 GALT p.Val150Leu VAR_002580 rs111033699
33 GALT p.Val151Ala VAR_002581 rs111033701
34 GALT p.Trp154Gly VAR_002582 rs111033702
35 GALT p.Phe171Ser VAR_002583 rs111033715
36 GALT p.Gly179Asp VAR_002584 rs111033720
37 GALT p.Pro183Thr VAR_002585 rs111033721
38 GALT p.His184Gln VAR_002586 rs111033717
39 GALT p.Gln188Arg VAR_002587 rs75391579
40 GALT p.Ser192Asn VAR_002588 rs111033734
41 GALT p.Phe194Leu VAR_002589 rs111033726
42 GALT p.Leu195Pro VAR_002590 rs111033728
43 GALT p.Ile198Met VAR_002591 rs111033729
44 GALT p.Ile198Thr VAR_002592 rs148346135
45 GALT p.Ala199Thr VAR_002593 rs111033730
46 GALT p.Arg201His VAR_002594 rs111033735
47 GALT p.Glu203Lys VAR_002595 rs111033736
48 GALT p.Tyr209Cys VAR_002596 rs111033744
49 GALT p.Tyr209Ser VAR_002597 rs111033744
50 GALT p.Gln212His VAR_002598

Expression for Galactosemia

Search GEO for disease gene expression data for Galactosemia.

Pathways for Galactosemia

Pathways related to Galactosemia according to KEGG:

37
# Name Kegg Source Accession
1 Galactose metabolism hsa00052
2 Amino sugar and nucleotide sugar metabolism hsa00520

GO Terms for Galactosemia

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.56 GALT GALK1 GALE G6PD
2 cytokine-mediated signaling pathway GO:0019221 9.54 IL11RA CD36 CASP1
3 response to organic cyclic compound GO:0014070 9.5 G6PD BGLAP AMH
4 galactose catabolic process via UDP-galactose GO:0033499 9.16 GALT GALK1
5 galactose metabolic process GO:0006012 9.13 GALT GALK1 GALE
6 galactose catabolic process GO:0019388 8.8 GALT GALK1 GALE

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.1 SLC25A13 IMPA1 GALE G6PD CRYAA CASP1

Sources for Galactosemia

3 CDC
7 CNVD
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