GALAC1
MCID: GLC113
MIFTS: 64

Galactosemia I (GALAC1)

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

Aliases & Classifications for Galactosemia I

MalaCards integrated aliases for Galactosemia I:

Name: Galactosemia I 56
Galactosemia 56 12 74 52 25 58 73 36 29 13 6 15 39
Galt Deficiency 56 12 52 25 58 73
Classic Galactosemia 12 52 25 58 15
Galactose-1-Phosphate Uridylyltransferase Deficiency 56 74 73
Galactose-1-Phosphate Uridyltransferase Deficiency 12 52 58
Galactosemia Type 1 12 52 58
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease 52 25
Galactosemia, Classic 56 52
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency 25
Galactose-1-Phosphate Uridyl Transferase Deficiency 52
Galactose-1-Phosphate Uridyltranferase Deficiency 52
Udp-Galactose-4-Epimerase Deficiency Disease 25
Epimerase Deficiency Galactosemia 25
Galactokinase Deficiency Disease 25
Galactose Epimerase Deficiency 25
Classical Galactosemia 54
Galactose Intolerance 12
Galk Deficiency 25
Gale Deficiency 25
Galactosaemia 12
Galactosemias 54
Galac1 56
Galct 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive

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


HPO:

31
galactosemia i:
Clinical modifier neonatal death
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare hepatic diseases
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Galactosemia I

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79239 Definition A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. Epidemiology Global 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 description When 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. Etiology Classic 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 methods In 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 diagnosis Differential diagnoses include galactose epimerase deficiency and other diseases causing acute liver disease in the neonate. Antenatal diagnosis Prenatal 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 counseling Galactosemia 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 treatment Treatment 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. Prognosis Prognosis 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 I, also known as galactosemia, is related to galactosemia iii and galactosemia ii. An important gene associated with Galactosemia I 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 global developmental delay

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 : 56 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 : 36 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 : 73 Galactosemia: Inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation.

Wikipedia : 74 Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood,... more...

Related Diseases for Galactosemia I

Diseases in the Galactosemia I family:

Galactosemia Ii Galactosemia Iii
Galactosemia Iv

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

(show top 50) (show all 206)
# Related Disease Score Top Affiliating Genes
1 galactosemia iii 33.2 UGP2 UGDH UAP1 GBGT1 GALT GALK2
2 galactosemia ii 32.7 GALT GALK1 GALE CRYAA
3 disorder of galactose metabolism 31.5 GALT GALM
4 cataract 31.2 GALT GALK1 GALE CRYAA AKR1B1
5 premature ovarian failure 1 30.6 GDF9 GALT GALK1 AMH
6 congenital disorder of glycosylation, type in 30.6 PMM2 PGM1 ALG2
7 carbohydrate metabolic disorder 30.0 PMM2 LCT GALT GALK1 CRYAA
8 lens subluxation 29.8 GALT CRYAA
9 fructose and galactose intolerance 12.6
10 generalized galactose epimerase deficiency 12.5
11 erythrocyte galactose epimerase deficiency 12.5
12 classic galactosemia and clinical variant galactosemia 11.7
13 childhood apraxia of speech 11.5
14 duarte variant galactosemia 11.5
15 glucose/galactose malabsorption 11.5
16 galactosemia iv 11.2
17 bile acid synthesis defect, congenital, 2 11.2
18 hydrocephalus, endocardial fibroelastosis, and cataracts 11.2
19 bile acid synthesis defect, congenital, 1 11.2
20 hypermethioninemia 11.2
21 phenylketonuria 10.5
22 congenital disorder of glycosylation, type iii 10.5 PMM2 ALG2
23 congenital disorder of glycosylation, type iih 10.4 PMM2 ALG2
24 dermoid cyst of ovary 10.4 PGM1 AMH
25 congenital disorder of glycosylation, type iif 10.4 PMM2 ALG2
26 congenital disorder of glycosylation, type iid 10.4 PMM2 ALG2
27 congenital disorder of glycosylation, type iip 10.4 PGM1 ALG2
28 microvascular complications of diabetes 5 10.4
29 congenital disorder of glycosylation, type iin 10.4 PMM2 PGM1
30 mature cataract 10.4 CRYAA AKR1B1
31 congenital disorder of glycosylation, type iib 10.4 PMM2 ALG2
32 hyperglycemia 10.4
33 congenital disorder of glycosylation, type iim 10.4 PGM1 ALG2
34 congenital disorder of glycosylation, type iia 10.4 PMM2 ALG2
35 tracheitis 10.4 LGALS7B LGALS7
36 premature menopause 10.4 GDF9 AMH
37 inherited metabolic disorder 10.4
38 ovarian disease 10.3
39 bladder squamous cell carcinoma 10.3 LGALS7B LGALS7
40 congenital disorder of glycosylation, type ie 10.3 PMM2 ALG2
41 bilirubin metabolic disorder 10.3
42 hypoglycemia 10.3
43 congenital disorder of glycosylation, type iik 10.3 PMM2 PGM1 ALG2
44 fructose intolerance, hereditary 10.3
45 hypothyroidism 10.3
46 46 xx gonadal dysgenesis 10.3 GDF9 AMH
47 swine influenza 10.2 LGALS7B LGALS7
48 speech disorder 10.2
49 aminoaciduria 10.2
50 splenomegaly 10.2

Graphical network of the top 20 diseases related to Galactosemia I:



Diseases related to Galactosemia I

Symptoms & Phenotypes for Galactosemia I

Human phenotypes related to Galactosemia I:

58 31 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
4 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
5 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001943
6 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
7 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002017
8 abnormality of the ovary 58 31 hallmark (90%) Very frequent (99-80%) HP:0000137
9 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000939
10 failure to thrive in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001531
11 jaundice 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000952
12 hepatic failure 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001399
13 abnormal bleeding 58 31 hallmark (90%) Very frequent (99-80%) HP:0001892
14 lethargy 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001254
15 cataract 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000518
16 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
17 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
18 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
19 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
20 tremor 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001337
21 ascites 58 31 frequent (33%) Frequent (79-30%) HP:0001541
22 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
23 abnormality of the voice 58 31 frequent (33%) Frequent (79-30%) HP:0001608
24 sepsis 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0100806
25 abnormality of coagulation 58 31 frequent (33%) Frequent (79-30%) HP:0001928
26 pedal edema 58 31 frequent (33%) Frequent (79-30%) HP:0010741
27 speech apraxia 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0011098
28 impairment of galactose metabolism 58 31 frequent (33%) Frequent (79-30%) HP:0004915
29 decreased fertility in females 58 31 frequent (33%) Frequent (79-30%) HP:0000868
30 speech articulation difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0009088
31 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
32 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
33 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
34 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
35 ataxia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001251
36 hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001878
37 dysarthria 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001260
38 seizure 31 occasional (7.5%) HP:0001250
39 hypogonadotropic hypogonadism 31 occasional (7.5%) HP:0000044
40 seizures 58 Occasional (29-5%)
41 neurological speech impairment 58 Frequent (79-30%)
42 vomiting 31 HP:0002013
43 aminoaciduria 31 HP:0003355
44 abnormality of metabolism/homeostasis 58 Very frequent (99-80%)
45 abnormality of movement 58 Occasional (29-5%)
46 cirrhosis 31 HP:0001394
47 premature ovarian insufficiency 31 HP:0008209
48 hypogonadotrophic hypogonadism 58 Occasional (29-5%)
49 hypergonadotropic hypogonadism 31 HP:0000815
50 metabolic acidosis 31 HP:0001942

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract

Growth Other:
failure to thrive

Hematology:
hemolytic anemia

Genitourinary External Genitalia Female:
ovarian failure due to hypergonadotropic hypogonadism

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

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 AKR1B1 GALT PMM2 UGP2

Drugs & Therapeutics for Galactosemia I

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

(show all 8)
# 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
Arginine Investigational, Nutraceutical Phase 2 74-79-3 6322
4
Warfarin Approved Phase 1 81-81-2 6691 54678486
5 Pharmaceutical Solutions Phase 1
6 Hormone Antagonists
7 Follicle Stimulating Hormone
8 Hormones

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 A Phase 1-2, Dose-Escalating, 4-Part Study to Evaluate the Safety and Pharmacokinetics of Single and Multiple Doses of AT-007 in Healthy Adult Subjects and Adult Subjects With Classic Galactosemia Recruiting NCT04117711 Phase 1, Phase 2 AT-007;Placebo
3 Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of Glycosylation Terminated NCT02511041 Phase 1 N-Acetylglucosamine (GlcNAc);Uridine
4 The Role of Inactive Follicle Stimulating Hormone in Ovarian Dysfunction in Galactosemia Unknown status NCT00619333 follitropin and lutropin
5 Premature Ovarian Failure : Genetic and Physiopathologic Analysis Unknown status NCT00780897
6 Intervention and Outcomes in Duarte Galactosemia Completed NCT02519504
7 Pregnancy Chances in Classic Galactosemia Completed NCT02091128
8 Galactosaemia, a Modifiable Multi-system Glycosylation Disorder? Completed NCT02218632
9 The Early History of Universal Screening for Metabolic Disorders Completed NCT00309400
10 Babble Boot Camp: Preventing Speech and Language Disorders in Children With Classic Galactosemia Recruiting NCT03838016

Search NIH Clinical Center for Galactosemia I

Genetic Tests for Galactosemia I

Genetic tests related to Galactosemia I:

# Genetic test Affiliating Genes
1 Galactosemia 29

Anatomical Context for Galactosemia I

MalaCards organs/tissues related to Galactosemia I:

40
Liver, Testes, Eye, Bone, Ovary, Kidney, Skin

Publications for Galactosemia I

Articles related to Galactosemia I:

(show top 50) (show all 1529)
# Title Authors PMID Year
1
Verbal dyspraxia and galactosemia. 61 54 56 6
12595586 2003
2
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. 56 6 61 54
10408771 1999
3
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase. 61 6 56
19224951 2009
4
The molecular biology of galactosemia. 6 56 61
11261429 1998
5
The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative. 61 56 6
8943248 1996
6
Molecular characterization of galactosemia (type 1) mutations in Japanese. 6 56 61
7550229 1995
7
A common mutation associated with the Duarte galactosemia allele. 61 56 6
8198125 1994
8
Classical galactosaemia revisited. 6 56
16838075 2006
9
Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. 56 6
10439960 1999
10
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. 61 6 54
9222760 1997
11
Duarte Variant Galactosemia 61 6
25473725 2014
12
Epimerase Deficiency Galactosemia 6 61
21290786 2011
13
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. 61 56
18207281 2008
14
Neonatal screening, clinical features and genetic testing for galactosemia. 61 6
15775761 2005
15
Molecular analysis in newborns from Texas affected with galactosemia. 6 61
11754113 2002
16
Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. 61 56
11511927 2001
17
Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia. 61 6
11286503 2001
18
Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes. 61 6
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). 6 61
10649501 2000
20
Classic Galactosemia and Clinical Variant Galactosemia 61 6
20301691 2000
21
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. 61 6
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. 6 61
9326324 1997
23
Molecular basis for Duarte and Los Angeles variant galactosemia. 61 56
9012409 1997
24
Vitreous hemorrhage as an ophthalmic complication of galactosemia. 56 61
8969739 1996
25
Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase. 56 61
8692963 1996
26
A prevalent mutation for galactosemia among black Americans. 6 61
8551426 1996
27
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. 61 56
7887416 1995
28
Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations. 61 56
7868133 1995
29
Molecular characterization of the H319Q galactosemia mutation. 61 6
8499924 1993
30
Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase. 61 6
1610789 1992
31
Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia. 61 6
1373122 1992
32
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. 6 61
1897530 1991
33
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. 6 61
2011574 1991
34
Effect of lactation in a mother with galactosemia. 61 56
2754558 1989
35
Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants. 61 56
6321325 1984
36
Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells. 61 56
6340612 1983
37
A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate. 61 56
6247691 1980
38
Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency. 56 61
472754 1979
39
Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote. 61 56
627109 1978
40
Sepsis due to Escherichia coli in neonates with galactosemia. 61 56
331112 1977
41
Rennes-like variant of galactosemia: clinical and biochemical studies. 56 61
1151546 1975
42
The genetic defect in galactosemia. 61 56
46587 1975
43
Detection of inborn errors of metabolism: galactosemia. 56 61
4689218 1973
44
[A family with galactosemia and "Duarte variant"]. 56 61
5082089 1972
45
Galactosemia: evidence for a structural gene mutation. 61 56
4995463 1971
46
Galactosemia screening of newborns in Massachusetts. 61 56
4926707 1971
47
Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity. 56 61
5289034 1970
48
Galactosemia in a 24-year-old man; detection by enzyme studies. 56 61
5637893 1968
49
Clinical variants of galactosemia. 56 61
5337683 1967
50
Galactose conversion to D-xylulose: an alternate route of galactose metabolism. 56 61
5938779 1966

Variations for Galactosemia I

ClinVar genetic disease variations for Galactosemia I:

6 (show top 50) (show all 390) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GALT NM_000155.4(GALT):c.652C>T (p.Leu218=)SNV Benign, other 39372 rs2070075 9:34648418-34648418 9:34648421-34648421
2 GALT NM_000155.4(GALT):c.855G>T (p.Lys285Asn)SNV Pathogenic 3621 rs111033773 9:34649029-34649029 9:34649032-34649032
3 GALT NM_000155.4(GALT):c.67A>G (p.Thr23Ala)SNV Pathogenic 25118 rs111033635 9:34646768-34646768 9:34646771-34646771
4 GALT NM_000155.4(GALT):c.82G>T (p.Asp28Tyr)SNV Pathogenic 25119 rs111033636 9:34646783-34646783 9:34646786-34646786
5 GALT NM_000155.4(GALT):c.82G>C (p.Asp28His)SNV Pathogenic 25120 rs111033636 9:34646783-34646783 9:34646786-34646786
6 GALT NM_000155.4(GALT):c.90G>C (p.Gln30His)SNV Pathogenic 25121 rs111033834 9:34647093-34647093 9:34647096-34647096
7 GALT NM_000155.4(GALT):c.997C>G (p.Arg333Gly)SNV Pathogenic 3623 rs111033800 9:34649499-34649499 9:34649502-34649502
8 GALT NM_000155.4(GALT):c.580T>C (p.Phe194Leu)SNV Pathogenic 3624 rs111033726 9:34648346-34648346 9:34648349-34648349
9 GALT NG_009029.1:g.(?_4752)_(?_9014)deletion Pathogenic 25109
10 GALT NG_009029.1:g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del]indel Pathogenic 25110
11 GALT NM_000155.4(GALT):c.1A>G (p.Met1Val)SNV Pathogenic 25112 rs111033639 9:34646702-34646702 9:34646705-34646705
12 GALT NM_000155.4(GALT):c.2T>G (p.Met1Arg)SNV Pathogenic 813464 9:34646703-34646703 9:34646706-34646706
13 GALT NM_000155.4(GALT):c.359del (p.Lys120fs)deletion Pathogenic 851656 9:34647682-34647682 9:34647685-34647685
14 GALT NM_000155.4(GALT):c.425T>A (p.Met142Lys)SNV Pathogenic 3609 rs111033695 9:34647876-34647876 9:34647879-34647879
15 GALT NM_000155.4(GALT):c.130G>A (p.Val44Met)SNV Pathogenic 3611 rs111033647 9:34647133-34647133 9:34647136-34647136
16 GALT NM_000155.4(GALT):c.563A>G (p.Gln188Arg)SNV Pathogenic 3614 rs75391579 9:34648167-34648167 9:34648170-34648170
17 GALT NM_000155.4(GALT):c.221T>C (p.Leu74Pro)SNV Pathogenic 3615 rs111033663 9:34647224-34647224 9:34647227-34647227
18 GALT NM_000155.4(GALT):c.95T>A (p.Ile32Asn)SNV Pathogenic 25123 rs111033644 9:34647098-34647098 9:34647101-34647101
19 GALT NM_000155.4(GALT):c.113A>C (p.Gln38Pro)SNV Pathogenic 25127 rs111033646 9:34647116-34647116 9:34647119-34647119
20 GALT NM_000155.4(GALT):c.130G>T (p.Val44Leu)SNV Pathogenic 25129 rs111033647 9:34647133-34647133 9:34647136-34647136
21 GALT NM_000155.4(GALT):c.136_140del (p.Ala46fs)deletion Pathogenic 25131 rs111033651 9:34647136-34647140 9:34647139-34647143
22 GALT NM_000155.4(GALT):c.152G>T (p.Arg51Leu)SNV Pathogenic 25133 rs111033648 9:34647155-34647155 9:34647158-34647158
23 GALT NM_000155.4(GALT):c.160C>T (p.Gln54Ter)SNV Pathogenic 25134 rs111033649 9:34647163-34647163 9:34647166-34647166
24 GALT NM_000155.4(GALT):c.197C>A (p.Pro66His)SNV Pathogenic 25135 rs111033656 9:34647200-34647200 9:34647203-34647203
25 GALT NM_000155.4(GALT):c.199C>T (p.Arg67Cys)SNV Pathogenic 25137 rs111033658 9:34647202-34647202 9:34647205-34647205
26 GALT NM_000155.4(GALT):c.207_214del (p.Asp69fs)deletion Pathogenic 25138 rs111033655 9:34647209-34647216 9:34647212-34647219
27 GALT NM_000155.4(GALT):c.220_221insG (p.Leu74fs)insertion Pathogenic 25139 rs111033659 9:34647223-34647224 9:34647226-34647227
28 GALT NM_000155.4(GALT):c.253-2A>GSNV Pathogenic 25142 rs111033661 9:34647487-34647487 9:34647490-34647490
29 GALT NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)SNV Pathogenic 25143 rs111033666 9:34647501-34647501 9:34647504-34647504
30 GALT NM_000155.4(GALT):c.265T>C (p.Tyr89His)SNV Pathogenic 25144 rs111033666 9:34647501-34647501 9:34647504-34647504
31 GALT NM_000155.4(GALT):c.285T>G (p.Phe95Leu)SNV Pathogenic 25145 rs111033668 9:34647521-34647521 9:34647524-34647524
32 GALT NM_000155.4(GALT):c.328+2T>CSNV Pathogenic 25150 rs111033849 9:34647566-34647566 9:34647569-34647569
33 GALT NM_000155.4(GALT):c.334dup (p.Ser112fs)duplication Pathogenic 25156 rs111033676 9:34647658-34647659 9:34647661-34647662
34 GALT NM_000155.4(GALT):c.336T>C (p.Ser112=)SNV Pathogenic 25157 rs367543254 9:34647661-34647661 9:34647664-34647664
35 GALT NM_000155.4(GALT):c.337G>A (p.Asp113Asn)SNV Pathogenic 25158 rs111033677 9:34647662-34647662 9:34647665-34647665
36 GALT NM_000155.4(GALT):c.341A>T (p.His114Leu)SNV Pathogenic 25159 rs111033678 9:34647666-34647666 9:34647669-34647669
37 GALT NM_000155.4(GALT):c.350T>C (p.Phe117Ser)SNV Pathogenic 25160 rs111033679 9:34647675-34647675 9:34647678-34647678
38 GALT NM_000155.4(GALT):c.354A>C (p.Gln118His)SNV Pathogenic 25161 rs111033673 9:34647679-34647679 9:34647682-34647682
39 GALT NM_000155.4(GALT):c.368G>A (p.Arg123Gln)SNV Pathogenic 25162 rs111033675 9:34647693-34647693 9:34647696-34647696
40 GALT NM_000155.4(GALT):c.374T>C (p.Val125Ala)SNV Pathogenic 25163 rs111033680 9:34647699-34647699 9:34647702-34647702
41 GALT NM_000155.4(GALT):c.377+1G>TSNV Pathogenic 25164 rs111033681 9:34647703-34647703 9:34647706-34647706
42 GALT NM_000155.4(GALT):c.377+53_1059+87deldeletion Pathogenic 25165 9:34647752-34649645 9:34647755-34649648
43 GALT NC_000009.12:g.(?_34645559)_(34651238_?)deldeletion Pathogenic 459626 9:34645556-34651235 9:34645559-34651238
44 GALT NM_000155.4(GALT):c.307C>T (p.Gln103Ter)SNV Pathogenic 498560 rs1225091358 9:34647543-34647543 9:34647546-34647546
45 GALT NC_000009.12:g.(?_34646586)_(34651238_?)deldeletion Pathogenic 529227 9:34646583-34651235 9:34646586-34651238
46 GALT NM_000155.4(GALT):c.616C>T (p.Gln206Ter)SNV Pathogenic 557190 rs1554709366 9:34648382-34648382 9:34648385-34648385
47 GALT NC_000009.12:g.(?_34646609)_(34650459_?)deldeletion Pathogenic 642055 9:34646606-34650456 9:34646609-34650459
48 GALT NM_000155.4(GALT):c.821-7A>GSNV Pathogenic 649344 9:34648988-34648988 9:34648991-34648991
49 GALT NM_000155.4(GALT):c.134C>A (p.Ser45Ter)SNV Pathogenic 802480 9:34647137-34647137 9:34647140-34647140
50 GALT NM_000155.4(GALT):c.252+1G>ASNV Pathogenic 813466 9:34647256-34647256 9:34647259-34647259

UniProtKB/Swiss-Prot genetic disease variations for Galactosemia I:

73 (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 I

Search GEO for disease gene expression data for Galactosemia I.

Pathways for Galactosemia I

Pathways related to Galactosemia I according to KEGG:

36
# Name Kegg Source Accession
1 Galactose metabolism hsa00052
2 Amino sugar and nucleotide sugar metabolism hsa00520

Pathways related to Galactosemia I according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 UGP2 UGDH UAP1 PMM2 PGM1 LCT
2
Show member pathways
12.45 UGP2 PGM1 LCT GALT GALK1 GALE
3
Show member pathways
11.98 UGP2 UGDH PGM1 AKR1B1
4
Show member pathways
11.44 UGP2 UGDH UAP1 PMM2 PGM1 GALT
5
Show member pathways
11.36 UGP2 PGM1 LCT GALT GALM GALK2
6
Show member pathways
10.77 GALM AKR1B1

GO Terms for Galactosemia I

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.8 UGP2 UAP1 PMM2 PGM1 LGALS7B LGALS7
2 extracellular exosome GO:0070062 9.76 UGP2 UGDH PGM1 LGALS7B LGALS7 GALM
3 cytosol GO:0005829 9.44 UGP2 UGDH UAP1 PMM2 PGM1 LGALS7B

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

# Name GO ID Score Top Affiliating Genes
1 galactose catabolic process GO:0019388 9.56 PGM1 GALT GALK1 GALE
2 galactose metabolic process GO:0006012 9.55 GALT GALM GALK2 GALK1 GALE
3 carbohydrate phosphorylation GO:0046835 9.43 GALK2 GALK1
4 glycogen biosynthetic process GO:0005978 9.4 UGP2 PGM1
5 UDP-glucuronate biosynthetic process GO:0006065 9.37 UGP2 UGDH
6 galactose catabolic process via UDP-galactose GO:0033499 9.35 GALT GALM GALK2 GALK1 GALE
7 UDP-glucose metabolic process GO:0006011 9.32 UGP2 GALT
8 carbohydrate metabolic process GO:0005975 9.32 UGDH PGM1 LCT GBGT1 GALT GALM

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10 UGP2 UAP1 GBGT1 GALT GALK2 GALK1
2 carbohydrate binding GO:0030246 9.67 UAP1 LGALS7B LGALS7 GALM
3 nucleotidyltransferase activity GO:0016779 9.58 UGP2 UAP1 GALT
4 phosphotransferase activity, alcohol group as acceptor GO:0016773 9.43 GALK2 GALK1
5 uridylyltransferase activity GO:0070569 9.32 UGP2 UAP1
6 galactose binding GO:0005534 9.26 GALK2 GALK1
7 isomerase activity GO:0016853 9.26 PMM2 PGM1 GALM GALE
8 carbohydrate kinase activity GO:0019200 9.16 GALK2 GALK1
9 galactokinase activity GO:0004335 8.62 GALK2 GALK1

Sources for Galactosemia I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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