GALAC3
MCID: GLC112
MIFTS: 56

Galactosemia Iii (GALAC3)

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 Iii

MalaCards integrated aliases for Galactosemia Iii:

Name: Galactosemia Iii 56 12
Galactose Epimerase Deficiency 56 12 52 58 36 13 15 39
Gale Deficiency 56 12 24 52 58 54
Udp-Galactose-4-Epimerase Deficiency 56 12 74 52 58
Epimerase Deficiency Galactosemia 12 24 52 58
Galactosemia Type 3 12 52 58 73
Uridine Diphosphate Galactose-4-Epimerase Deficiency 12 52 58
Gale-D 12 52 58
Udp-Galactose-4'-Epimerase Deficiency 24
Epimerase-Deficiency Galactosemia 73
Galactosemia Type Iii 24
Galactosemia 3 52
Galactosemias 43
Galac3 56
Edg 73

Characteristics:

Orphanet epidemiological data:

58
galactose epimerase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
udp-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic)


HPO:

31
galactosemia iii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare hepatic diseases
Rare renal diseases
Inborn errors of metabolism


Summaries for Galactosemia Iii

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79238 Definition A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. Epidemiology Overall prevalence is not known but the disorder is thought to be very rare. Annual incidence is not known. Clinical description The disorder represents a continuum from peripheral to generalized states with corresponding disease severity. When ingesting breast milk or lactose-containing formula, patients may develop hypotonia , poor feeding, vomiting, weight loss, jaundice , hepatomegaly, splenomegaly, liver disorders, aminoaciduria, impaired growth, cataracts and cognitive deficiency. In severe cases, the disease can be life-threatening. Etiology Galactose epimerase deficiency is caused by mutations in the GALE gene (1p36) encoding the UDP-galactose 4-epimerase enzyme . Genetic counseling Galactose epimerase deficiency is inherited in an autosomal recessive manner. Prognosis Occurrence of these symptoms can be resolved or prevented by implementing a galactose-restricted diet. Visit the Orphanet disease page for more resources.

MalaCards based summary : Galactosemia Iii, also known as galactose epimerase deficiency, is related to galactosemia ii and phenylketonuria. An important gene associated with Galactosemia Iii is GALE (UDP-Galactose-4-Epimerase), and among its related pathways/superpathways are Galactose metabolism and Metabolism. The drugs Aspartic acid and N-Methylaspartate have been mentioned in the context of this disorder. Affiliated tissues include liver, breast and eye, and related phenotypes are cataract and intellectual disability

Disease Ontology : 12 A galactosemia that has material basis in homozygous or compund heterozygous mutation in GALE on chromosome 1p36.11.

OMIM : 56 Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocytes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder. For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400). (230350)

KEGG : 36 Galactose epimerase deficiency is the least understood form of galactosemia. Originally, galactose epimerase deficiency was identified as a biochemical oddity that impacted only red and white blood cells in apparently healthy individuals. This condition was termed "peripheral type" because it impacted only cells in peripheral circulation. Subsequently, rare patients were identified who were severely symptomatic and demonstrated epimerase deficiency in various cell types, and it was termed "generalized type".

UniProtKB/Swiss-Prot : 73 Epimerase-deficiency galactosemia: Clinical features include early-onset cataracts, liver damage, deafness and mental retardation. There are two clinically distinct forms of EDG. (1) A benign, or 'peripheral' form with no detectable GALE activity in red blood cells and characterized by mild symptoms. Some patients may suffer no symptoms beyond raised levels of galactose-1-phosphate in the blood. (2) A much rarer 'generalized' form with undetectable levels of GALE activity in all tissues and resulting in severe features such as restricted growth and mental development.

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

GeneReviews: NBK51671

Related Diseases for Galactosemia Iii

Diseases in the Galactosemia I family:

Galactosemia Ii Galactosemia Iii
Galactosemia Iv

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

(show top 50) (show all 1110)
# Related Disease Score Top Affiliating Genes
1 galactosemia ii 34.4 GALT GALK1 GALE
2 phenylketonuria 30.7 G6PD BTD ACADM
3 citrullinemia, type ii, adult-onset 30.2 SLC25A13 GALE
4 cataract 30.2 GALT GALK1 GALE G6PD AKR1B1
5 carbohydrate metabolic disorder 29.8 GALT GALK1 G6PD BTD
6 senile cataract 29.7 GALK1 G6PD
7 acyl-coa dehydrogenase, medium-chain, deficiency of 29.4 BTD ACADM
8 diabetic cataract 29.4 G6PD AKR1B1
9 galactosemia i 26.3 UGP2 UGDH UAP1 GBGT1 GALT GALK2
10 duarte variant galactosemia 12.8
11 galactosemia iv 12.6
12 generalized galactose epimerase deficiency 12.5
13 erythrocyte galactose epimerase deficiency 12.5
14 classic galactosemia and clinical variant galactosemia 12.5
15 melanoma 11.6
16 childhood apraxia of speech 11.5
17 developmental dysplasia of the hip 1 11.4
18 lentigines 11.3
19 neural tube defects 11.3
20 familial hypercholesterolemia 11.3
21 post-traumatic stress disorder 11.3
22 gillespie syndrome 11.3
23 exudative vitreoretinopathy 11.3
24 bile acid synthesis defect, congenital, 2 11.2
25 hydrocephalus, endocardial fibroelastosis, and cataracts 11.2
26 bile acid synthesis defect, congenital, 1 11.2
27 hypermethioninemia 11.2
28 nail disorder, nonsyndromic congenital, 2 11.2
29 nail disorder, nonsyndromic congenital, 5 11.2
30 spondylometaphyseal dysplasia, corner fracture type 11.2
31 nail disorder, nonsyndromic congenital, 8 11.2
32 cataract 1, multiple types 11.0
33 central core disease of muscle 11.0
34 blepharocheilodontic syndrome 1 11.0
35 doyne honeycomb retinal dystrophy 11.0
36 fundus albipunctatus 11.0
37 kabuki syndrome 1 11.0
38 lacrimoauriculodentodigital syndrome 11.0
39 lymphedema-distichiasis syndrome 11.0
40 lipoid proteinosis of urbach and wiethe 11.0
41 cataract 10, multiple types 11.0
42 cataract 14, multiple types 11.0
43 intervertebral disc disease 11.0
44 aceruloplasminemia 11.0
45 cataract 23, multiple types 11.0
46 uvulitis 11.0
47 tuberculoid leprosy 11.0
48 breast cyst 11.0
49 hordeolum externum 11.0
50 centronuclear myopathy 11.0

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



Diseases related to Galactosemia Iii

Symptoms & Phenotypes for Galactosemia Iii

Human phenotypes related to Galactosemia Iii:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
5 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
6 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
7 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
8 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
9 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
10 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
11 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
12 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
13 impairment of galactose metabolism 58 31 hallmark (90%) Very frequent (99-80%) HP:0004915
14 delayed speech and language development 31 HP:0000750
15 sensorineural hearing impairment 31 HP:0000407
16 failure to thrive 31 HP:0001508
17 vomiting 31 HP:0002013
18 delayed gross motor development 31 HP:0002194
19 generalized hypotonia 31 HP:0001290
20 galactosuria 31 HP:0012023
21 hypergalactosemia 31 HP:0012024

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Growth Other:
failure to thrive

Laboratory Abnormalities:
aminoaciduria
galactosuria
galactosemia
udp-galactose-4-epimerase deficiency in all cells ('generalized' or 'severe' form)

Neurologic Central Nervous System:
hypotonia
mental retardation
language delay
developmental delay, gross motor
cognitive delay

Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
vomiting

Skin Nails Hair Skin:
jaundice

Head And Neck Ears:
deafness, sensorineural

Clinical features from OMIM:

230350

Drugs & Therapeutics for Galactosemia Iii

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

(show all 6)
# 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 Hormone Antagonists
5 Follicle Stimulating Hormone
6 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 The Role of Inactive Follicle Stimulating Hormone in Ovarian Dysfunction in Galactosemia Unknown status NCT00619333 follitropin and lutropin
4 Pregnancy Chances in Classic Galactosemia Completed NCT02091128
5 Intervention and Outcomes in Duarte Galactosemia Completed NCT02519504
6 The Early History of Universal Screening for Metabolic Disorders Completed NCT00309400
7 Galactosaemia, a Modifiable Multi-system Glycosylation Disorder? Completed NCT02218632
8 Babble Boot Camp: Preventing Speech and Language Disorders in Children With Classic Galactosemia Recruiting NCT03838016

Search NIH Clinical Center for Galactosemia Iii

Cochrane evidence based reviews: galactosemias

Genetic Tests for Galactosemia Iii

Anatomical Context for Galactosemia Iii

MalaCards organs/tissues related to Galactosemia Iii:

40
Liver, Breast, Eye, Testes, Bone, Skeletal Muscle

Publications for Galactosemia Iii

Articles related to Galactosemia Iii:

(show top 50) (show all 162)
# Title Authors PMID Year
1
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. 6 24 54 56
9326324 1997
2
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. 54 6 56
9538513 1998
3
Epimerase-deficiency galactosemia is not a binary condition. 54 24 56
16385452 2006
4
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. 54 24 56
9973283 1999
5
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. 56 24 54
9700591 1998
6
Generalised uridine diphosphate galactose-4-epimerase deficiency. 24 56
10086948 1999
7
Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. 56 24
6408303 1983
8
Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. 24 56
7305435 1981
9
Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture. 24 56
1748 1975
10
Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication. 56 24
4644860 1972
11
Galactose metabolism and cell "sociology". 56 24
5319435 1965
12
Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase. 54 56
8593531 1995
13
Epimerase Deficiency Galactosemia 6
21290786 2011
14
Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase. 54 24
16302980 2005
15
The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients. 24 54
16301867 2005
16
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. 56
11279193 2001
17
UDP galactose-4-epimerase deficiency in a 5.5-year-old girl with unilateral cataract. 56
8295413 1993
18
A patient with severe type of epimerase deficiency galactosaemia. 56
3141714 1988
19
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. 56
3783336 1986
20
Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant. 56
3948246 1986
21
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. 56
6549612 1983
22
Co-purification and characterization of UDP-glucose 4-epimerase and UDP-N-acetylglucosamine 4-epimerase from porcine submaxillary glands. 56
6885800 1983
23
Prenatal determination of uridine diphosphate galactose-4-epimerase activity. 56
6844265 1983
24
Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program. 56
7318169 1981
25
Uridine diphosphate galactose 4-epimerase deficiency. 56
7227386 1981
26
Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families. 56
404274 1977
27
Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation. 56
4785150 1973
28
Developmental defects in a Caenorhabditis elegans model for type III galactosemia. 24
25298520 2014
29
An interference-free two-step enzyme assay with UPLC-tandem mass spectrometric product measurement for the clinical diagnosis of uridine diphosphate galactose-4-epimerase deficiency. 24
24732214 2014
30
Multiple phenotypes in phosphoglucomutase 1 deficiency. 24
24499211 2014
31
UDP-galactose 4'-epimerase activities toward UDP-Gal and UDP-GalNAc play different roles in the development of Drosophila melanogaster. 24
22654673 2012
32
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. 24
21290184 2011
33
UDP-galactose 4' epimerase (GALE) is essential for development of Drosophila melanogaster. 24
20519568 2010
34
Generalized epimerase deficiency galactosemia. 24
20725869 2010
35
Novel mutations in the GALK1 gene in patients with galactokinase deficiency. 24
11139256 2001
36
Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia. 24
11117433 2000
37
Novel mutations in 13 probands with galactokinase deficiency. 24
10790206 2000
38
Screening for galactosemia: is there a place for it? 61
31213878 2019
39
Galactose Epimerase Deficiency: Expanding the Phenotype. 61
28247339 2017
40
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models. 61
27466186 2016
41
Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry. 54
20348403 2010
42
Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach. 54
20075179 2010
43
Diet in dermatology: revisited. 54
20228538 2010
44
[Citrin deficiency is an important etiology for cholestatic liver disease in children]. 54
19951499 2009
45
Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients. 54
19646668 2009
46
GALT protein database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants. 54
19591794 2009
47
Outcomes of siblings with classical galactosemia. 54
19181333 2009
48
Functional studies of rat galactokinase. 54
19433218 2009
49
Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period. 54
19232506 2009
50
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase. 54
19224951 2009

Variations for Galactosemia Iii

ClinVar genetic disease variations for Galactosemia Iii:

6 (show top 50) (show all 72) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GALE NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)SNV Benign/Likely benign, other 3679 rs28940884 1:24123212-24123212 1:23796722-23796722
2 GALE NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)SNV Likely benign, other 3681 rs28940885 1:24122673-24122673 1:23796183-23796183
3 GALE NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)SNV Pathogenic 21171 rs137853859 1:24124208-24124208 1:23797718-23797718
4 GALE NM_001008216.2(GALE):c.937C>A (p.Leu313Met)SNV Pathogenic 3680 rs3180383 1:24122692-24122692 1:23796202-23796202
5 GALE NM_001008216.2(GALE):c.548T>C (p.Leu183Pro)SNV Pathogenic 3675 rs121908045 1:24123618-24123618 1:23797128-23797128
6 GALE NM_001008216.2(GALE):c.101A>G (p.Asn34Ser)SNV Pathogenic 3676 rs121908046 1:24125397-24125397 1:23798907-23798907
7 GALE NM_001008216.2(GALE):c.269G>A (p.Gly90Glu)SNV Pathogenic 3677 rs28940882 1:24124689-24124689 1:23798199-23798199
8 GALE NM_001008216.2(GALE):c.308A>G (p.Asp103Gly)SNV Pathogenic 3678 rs28940883 1:24124650-24124650 1:23798160-23798160
9 GALE NM_001008216.2(GALE):c.749del (p.Gly250fs)deletion Pathogenic 664655 1:24123233-24123233 1:23796743-23796743
10 GALE NM_001008216.2(GALE):c.905G>A (p.Gly302Asp)SNV Pathogenic 21173 rs137853861 1:24122724-24122724 1:23796234-23796234
11 GALE NM_001008216.2(GALE):c.280G>A (p.Val94Met)SNV Pathogenic/Likely pathogenic 3682 rs121908047 1:24124678-24124678 1:23798188-23798188
12 GALE NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)SNV Likely pathogenic 21172 rs137853860 1:24123267-24123267 1:23796777-23796777
13 GALE NM_001008216.2(GALE):c.284G>A (p.Gly95Asp)SNV Likely pathogenic 801458 1:24124674-24124674 1:23798184-23798184
14 GALE NM_001008216.2(GALE):c.988+7G>ASNV Conflicting interpretations of pathogenicity 708263 1:24122634-24122634 1:23796144-23796144
15 GALE NM_001008216.2(GALE):c.423C>T (p.Tyr141=)SNV Conflicting interpretations of pathogenicity 296835 rs138518245 1:24124290-24124290 1:23797800-23797800
16 GALE NM_001008216.2(GALE):c.369G>A (p.Gly123=)SNV Conflicting interpretations of pathogenicity 296836 rs138148991 1:24124344-24124344 1:23797854-23797854
17 GALE NM_001008216.2(GALE):c.330C>T (p.Thr110=)SNV Conflicting interpretations of pathogenicity 296837 rs377557637 1:24124628-24124628 1:23798138-23798138
18 GALE NM_001008216.2(GALE):c.-77+340G>CSNV Uncertain significance 296838 rs568182391 1:24126862-24126862 1:23800372-23800372
19 GALE NM_001008216.2(GALE):c.*192T>CSNV Uncertain significance 296825 rs576468712 1:24122247-24122247 1:23795757-23795757
20 GALE NM_001008216.2(GALE):c.447C>G (p.Pro149=)SNV Uncertain significance 296834 rs571625657 1:24124266-24124266 1:23797776-23797776
21 GALE NM_001008216.2(GALE):c.*326_*328dupduplication Uncertain significance 296823 rs557214506 1:24122110-24122111 1:23795620-23795621
22 GALE NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys)SNV Uncertain significance 296827 rs780393850 1:24122706-24122706 1:23796216-23796216
23 GALE NM_001008216.2(GALE):c.873+13_873+14insAinsertion Uncertain significance 296829 rs765063773 1:24122985-24122986 1:23796495-23796496
24 GALE NM_001008216.2(GALE):c.647C>T (p.Ala216Val)SNV Uncertain significance 296831 rs542192037 1:24123428-24123428 1:23796938-23796938
25 GALE NM_001008216.2(GALE):c.97G>A (p.Asp33Asn)SNV Uncertain significance 167126 rs727503945 1:24125401-24125401 1:23798911-23798911
26 GALE NM_001008216.2(GALE):c.755T>C (p.Ile252Thr)SNV Uncertain significance 199015 rs148834880 1:24123227-24123227 1:23796737-23796737
27 GALE NM_001008216.2(GALE):c.659G>C (p.Arg220Pro)SNV Uncertain significance 287623 rs756780233 1:24123416-24123416 1:23796926-23796926
28 GALE NM_001008216.2(GALE):c.*327A>TSNV Uncertain significance 296824 rs535702110 1:24122112-24122112 1:23795622-23795622
29 GALE NM_001008216.2(GALE):c.955G>C (p.Gly319Arg)SNV Uncertain significance 296826 rs752384408 1:24122674-24122674 1:23796184-23796184
30 GALE NM_001008216.2(GALE):c.648G>A (p.Ala216=)SNV Uncertain significance 296830 rs144723215 1:24123427-24123427 1:23796937-23796937
31 GALE NM_001008216.2(GALE):c.506G>A (p.Arg169Gln)SNV Uncertain significance 296832 rs140878602 1:24124207-24124207 1:23797717-23797717
32 GALE NM_001008216.2(GALE):c.450G>A (p.Thr150=)SNV Uncertain significance 296833 rs566884215 1:24124263-24124263 1:23797773-23797773
33 GALE NM_001008216.2(GALE):c.878C>T (p.Pro293Leu)SNV Uncertain significance 861930 1:24122751-24122751 1:23796261-23796261
34 GALE NM_001008216.2(GALE):c.812C>T (p.Thr271Met)SNV Uncertain significance 838412 1:24123060-24123060 1:23796570-23796570
35 GALE NM_001008216.2(GALE):c.611T>C (p.Ile204Thr)SNV Uncertain significance 836418 1:24123555-24123555 1:23797065-23797065
36 GALE NM_001008216.2(GALE):c.376A>G (p.Asn126Asp)SNV Uncertain significance 854757 1:24124337-24124337 1:23797847-23797847
37 GALE NM_001008216.2(GALE):c.31G>T (p.Ala11Ser)SNV Uncertain significance 845001 1:24125467-24125467 1:23798977-23798977
38 GALE NM_001008216.2(GALE):c.488T>G (p.Phe163Cys)SNV Uncertain significance 656130 1:24124225-24124225 1:23797735-23797735
39 GALE NM_001008216.2(GALE):c.13G>T (p.Val5Leu)SNV Uncertain significance 647056 1:24125485-24125485 1:23798995-23798995
40 GALE NM_001008216.2(GALE):c.873+6C>TSNV Uncertain significance 531730 rs1553130228 1:24122993-24122993 1:23796503-23796503
41 GALE NM_001008216.2(GALE):c.140A>C (p.Glu47Ala)SNV Uncertain significance 531729 rs367768055 1:24125202-24125202 1:23798712-23798712
42 GALE NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr)SNV Uncertain significance 572886 rs542486536 1:24124651-24124651 1:23798161-23798161
43 GALE NM_001008216.2(GALE):c.382G>A (p.Val128Met)SNV Uncertain significance 596687 rs778887800 1:24124331-24124331 1:23797841-23797841
44 GALE NM_001008216.2(GALE):c.973G>A (p.Gly325Arg)SNV Uncertain significance 658280 1:24122656-24122656 1:23796166-23796166
45 GALE NM_001008216.2(GALE):c.873G>A (p.Lys291=)SNV Uncertain significance 646557 1:24122999-24122999 1:23796509-23796509
46 GALE NM_001008216.2(GALE):c.760G>A (p.Ala254Thr)SNV Uncertain significance 661680 1:24123222-24123222 1:23796732-23796732
47 GALE NM_001008216.2(GALE):c.*178G>ASNV Uncertain significance 875984 1:24122261-24122261 1:23795771-23795771
48 GALE NM_001008216.2(GALE):c.*158G>ASNV Uncertain significance 875985 1:24122281-24122281 1:23795791-23795791
49 GALE NM_001008216.2(GALE):c.*69G>ASNV Uncertain significance 876964 1:24122370-24122370 1:23795880-23795880
50 GALE NM_001008216.2(GALE):c.*12T>GSNV Uncertain significance 876965 1:24122427-24122427 1:23795937-23795937

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

73 (show all 16)
# Symbol AA change Variation ID SNP ID
1 GALE p.Asn34Ser VAR_002539 rs121908046
2 GALE p.Gly90Glu VAR_002540 rs28940882
3 GALE p.Asp103Gly VAR_002541 rs28940883
4 GALE p.Leu183Pro VAR_002543 rs121908045
5 GALE p.Lys257Arg VAR_002544 rs28940884
6 GALE p.Leu313Met VAR_002545 rs3180383
7 GALE p.Gly319Glu VAR_002546 rs28940885
8 GALE p.Val94Met VAR_010058 rs121908047
9 GALE p.Ala25Val VAR_037733 rs143177292
10 GALE p.Arg40Cys VAR_037734 rs144492228
11 GALE p.Asp69Glu VAR_037735 rs126169796
12 GALE p.Glu165Lys VAR_037736 rs528467258
13 GALE p.Arg169Trp VAR_037737 rs137853859
14 GALE p.Arg239Trp VAR_037738 rs137853860
15 GALE p.Gly302Asp VAR_037739 rs137853861
16 GALE p.Arg335His VAR_037740 rs368637540

Expression for Galactosemia Iii

Search GEO for disease gene expression data for Galactosemia Iii.

Pathways for Galactosemia Iii

Pathways related to Galactosemia Iii according to KEGG:

36
# Name Kegg Source Accession
1 Galactose metabolism hsa00052

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 UGP2 UGDH UAP1 SLC2A2 SLC25A13 GBGT1
2
Show member pathways
12.51 UGP2 SLC2A2 SLC25A13 GALT GALK1 GALE
3
Show member pathways
11.9 UGP2 UGDH AKR1B1
4
Show member pathways
11.52 UGP2 GALT GALK2 GALK1 GALE AKR1B1
5 11.05 SLC2A2 ACADM
6
Show member pathways
10.99 UGP2 UGDH UAP1 GALT GALK1 GALE
7 10.53 SLC2A2 G6PD

GO Terms for Galactosemia Iii

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.32 UGP2 UGDH UAP1 GALT GALK2 GALK1

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

# Name GO ID Score Top Affiliating Genes
1 galactose metabolic process GO:0006012 9.46 GALT GALK2 GALK1 GALE
2 carbohydrate phosphorylation GO:0046835 9.43 GALK2 GALK1
3 galactose catabolic process GO:0019388 9.43 GALT GALK1 GALE
4 glycogen biosynthetic process GO:0005978 9.4 UGP2 ACADM
5 UDP-glucuronate biosynthetic process GO:0006065 9.37 UGP2 UGDH
6 UDP-glucose metabolic process GO:0006011 9.32 UGP2 GALT
7 carbohydrate metabolic process GO:0005975 9.28 UGDH SLC2A2 GBGT1 GALT GALK2 GALK1
8 galactose catabolic process via UDP-galactose GO:0033499 9.26 GALT GALK2 GALK1 GALE

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate binding GO:0030246 9.63 UAP1 G6PD CLC
2 nucleotidyltransferase activity GO:0016779 9.54 UGP2 UAP1 GALT
3 phosphotransferase activity, alcohol group as acceptor GO:0016773 9.43 GALK2 GALK1
4 glucose binding GO:0005536 9.4 UGP2 G6PD
5 uridylyltransferase activity GO:0070569 9.32 UGP2 UAP1
6 galactose binding GO:0005534 9.26 GALK2 GALK1
7 identical protein binding GO:0042802 9.23 UGP2 UGDH UAP1 SLC25A13 GALE G6PD
8 carbohydrate kinase activity GO:0019200 9.16 GALK2 GALK1
9 galactokinase activity GO:0004335 8.96 GALK2 GALK1

Sources for Galactosemia Iii

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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