EDG
MCID: GLC011
MIFTS: 48

Galactose Epimerase Deficiency (EDG)

Categories: Blood diseases, Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Galactose Epimerase Deficiency

MalaCards integrated aliases for Galactose Epimerase Deficiency:

Name: Galactose Epimerase Deficiency 56 12 52 58 36 13 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
Galactosemia Iii 56 12
Udpglucose 4-Epimerase Deficiency Disease 71
Udp-Galactose-4'-Epimerase Deficiency 24
Epimerase-Deficiency Galactosemia 73
Classical Galactosemia 71
Galactosemia Type Iii 24
Galactosemia 3 52
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
galactose epimerase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Galactose Epimerase Deficiency

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 leukocyes, 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. GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (230400), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT; 606999). Galactosemia II (230200) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK; 604313). (230350)

MalaCards based summary : Galactose Epimerase Deficiency, also known as gale deficiency, is related to galactosemia and cataract, and has symptoms including vomiting, diarrhea and icterus. An important gene associated with Galactose Epimerase Deficiency is GALE (UDP-Galactose-4-Epimerase), and among its related pathways/superpathways are Galactose metabolism and Glycosaminoglycan metabolism. Affiliated tissues include liver, heart and breast, and related phenotypes are intellectual disability and nausea and vomiting

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

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.

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 ????????? + ????, meaning galactose + blood,... more...

GeneReviews: NBK51671

Related Diseases for Galactose Epimerase Deficiency

Diseases related to Galactose Epimerase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1000)
# Related Disease Score Top Affiliating Genes
1 galactosemia 31.7 GALT GALK1 GALE
2 cataract 28.9 GALT GALK1 GALE
3 galactokinase deficiency 28.6 GALT GALK1 GALE
4 generalized galactose epimerase deficiency 12.5
5 erythrocyte galactose epimerase deficiency 12.5
6 melanoma 11.6
7 lentigines 11.3
8 familial hypercholesterolemia 11.3
9 neural tube defects 11.3
10 gillespie syndrome 11.3
11 exudative vitreoretinopathy 11.3
12 spondylometaphyseal dysplasia, corner fracture type 11.2
13 nail disorder, nonsyndromic congenital, 8 11.2
14 cataract 1, multiple types 11.0
15 blepharocheilodontic syndrome 1 11.0
16 fundus albipunctatus 11.0
17 developmental dysplasia of the hip 1 11.0
18 kabuki syndrome 1 11.0
19 nail disorder, nonsyndromic congenital, 2 11.0
20 lacrimoauriculodentodigital syndrome 11.0
21 lymphedema-distichiasis syndrome 11.0
22 nail disorder, nonsyndromic congenital, 5 11.0
23 lipoid proteinosis of urbach and wiethe 11.0
24 cataract 10, multiple types 11.0
25 cataract 14, multiple types 11.0
26 intervertebral disc disease 11.0
27 aceruloplasminemia 11.0
28 cataract 23, multiple types 11.0
29 uvulitis 11.0
30 tuberculoid leprosy 11.0
31 breast cyst 11.0
32 hordeolum externum 11.0
33 centronuclear myopathy 11.0
34 acral lentiginous melanoma 11.0
35 aphthous stomatitis 11.0
36 hordeolum 11.0
37 ichthyosis linearis circumflexa 11.0
38 leukoplakia 11.0
39 mitral valve insufficiency 10.8
40 autoimmune disease 10.6
41 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
42 tricuspid valve insufficiency 10.5
43 allergic encephalomyelitis 10.4
44 rapidly involuting congenital hemangioma 10.3
45 mitral valve stenosis 10.3
46 hair whorl 10.3
47 cytokine deficiency 10.3
48 inherited metabolic disorder 10.2
49 aminoaciduria 10.2
50 hypotonia 10.2

Graphical network of the top 20 diseases related to Galactose Epimerase Deficiency:



Diseases related to Galactose Epimerase Deficiency

Symptoms & Phenotypes for Galactose Epimerase Deficiency

Human phenotypes related to Galactose Epimerase Deficiency:

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

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

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 Spleen:
splenomegaly

Abdomen Gastrointestinal:
vomiting

Skin Nails Hair Skin:
jaundice

Head And Neck Ears:
deafness, sensorineural

Clinical features from OMIM:

230350

UMLS symptoms related to Galactose Epimerase Deficiency:


vomiting, diarrhea, icterus

GenomeRNAi Phenotypes related to Galactose Epimerase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased IL-8 secretion GR00386-A-2 8.8 GALE GALK1 GALT

Drugs & Therapeutics for Galactose Epimerase Deficiency

Search Clinical Trials , NIH Clinical Center for Galactose Epimerase Deficiency

Genetic Tests for Galactose Epimerase Deficiency

Anatomical Context for Galactose Epimerase Deficiency

MalaCards organs/tissues related to Galactose Epimerase Deficiency:

40
Liver, Heart, Breast, Bone, Lung, Thyroid, T Cells

Publications for Galactose Epimerase Deficiency

Articles related to Galactose Epimerase Deficiency:

(show all 49)
# 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. 24 56 6
9326324 1997
2
Epimerase-deficiency galactosemia is not a binary condition. 54 61 24 56
16385452 2006
3
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. 54 61 24 56
9700591 1998
4
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. 56 6
9538513 1998
5
Generalised uridine diphosphate galactose-4-epimerase deficiency. 24 56
10086948 1999
6
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. 24 56
9973283 1999
7
Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase. 54 61 56
8593531 1995
8
Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. 24 56
6408303 1983
9
Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. 24 56
7305435 1981
10
Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture. 24 56
1748 1975
11
Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication. 24 56
4644860 1972
12
Galactose metabolism and cell "sociology". 24 56
5319435 1965
13
Epimerase Deficiency Galactosemia 61 6
21290786 2011
14
The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients. 54 61 24
16301867 2005
15
UDP-galactose 4' epimerase (GALE) is essential for development of Drosophila melanogaster. 61 24
20519568 2010
16
Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase. 54 24
16302980 2005
17
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. 56
11279193 2001
18
UDP galactose-4-epimerase deficiency in a 5.5-year-old girl with unilateral cataract. 56
8295413 1993
19
A patient with severe type of epimerase deficiency galactosaemia. 56
3141714 1988
20
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. 56
3783336 1986
21
Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant. 56
3948246 1986
22
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. 56
6549612 1983
23
Co-purification and characterization of UDP-glucose 4-epimerase and UDP-N-acetylglucosamine 4-epimerase from porcine submaxillary glands. 56
6885800 1983
24
Prenatal determination of uridine diphosphate galactose-4-epimerase activity. 56
6844265 1983
25
Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program. 56
7318169 1981
26
Uridine diphosphate galactose 4-epimerase deficiency. 56
7227386 1981
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
Generalized epimerase deficiency galactosemia. 24
20725869 2010
34
Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia. 54 61
15639193 2005
35
Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging. 54 61
14970742 2004
36
Novel mutations in the GALK1 gene in patients with galactokinase deficiency. 24
11139256 2001
37
Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia. 24
11117433 2000
38
Molecular basis of disorders of human galactose metabolism: past, present, and future. 54 61
11001796 2000
39
Novel mutations in 13 probands with galactokinase deficiency. 24
10790206 2000
40
Screening for galactosemia: is there a place for it? 61
31213878 2019
41
Hereditary galactosemia. 61
29409891 2018
42
Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases. 61
28672748 2017
43
Galactose Epimerase Deficiency: Expanding the Phenotype. 61
28247339 2017
44
A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype. 61
26565537 2016
45
Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers. 61
24578239 2014
46
Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells. 61
19250319 2009
47
The structural and molecular biology of type III galactosemia. 54
16611573 2006
48
[Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report]. 54
11258124 2001
49
[UDP-galactose-4-epimerase deficiency]. 54
9589979 1998

Variations for Galactose Epimerase Deficiency

ClinVar genetic disease variations for Galactose Epimerase Deficiency:

6 (show all 44) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.937C>A (p.Leu313Met)SNV Pathogenic 3680 rs3180383 1:24122692-24122692 1:23796202-23796202
4 GALE NM_001008216.2(GALE):c.548T>C (p.Leu183Pro)SNV Pathogenic 3675 rs121908045 1:24123618-24123618 1:23797128-23797128
5 GALE NM_001008216.2(GALE):c.101A>G (p.Asn34Ser)SNV Pathogenic 3676 rs121908046 1:24125397-24125397 1:23798907-23798907
6 GALE NM_001008216.2(GALE):c.269G>A (p.Gly90Glu)SNV Pathogenic 3677 rs28940882 1:24124689-24124689 1:23798199-23798199
7 GALE NM_001008216.2(GALE):c.308A>G (p.Asp103Gly)SNV Pathogenic 3678 rs28940883 1:24124650-24124650 1:23798160-23798160
8 GALE NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)SNV Pathogenic 21171 rs137853859 1:24124208-24124208 1:23797718-23797718
9 GALE NM_001008216.2(GALE):c.905G>A (p.Gly302Asp)SNV Pathogenic 21173 rs137853861 1:24122724-24122724 1:23796234-23796234
10 GALE NM_001008216.2(GALE):c.749del (p.Gly250fs)deletion Pathogenic 664655 1:24123233-24123233 1:23796743-23796743
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.912G>A (p.Val304=)SNV Conflicting interpretations of pathogenicity 92891 rs143694860 1:24122717-24122717 1:23796227-23796227
15 GALE NM_001008216.2(GALE):c.369G>A (p.Gly123=)SNV Conflicting interpretations of pathogenicity 296836 rs138148991 1:24124344-24124344 1:23797854-23797854
16 GALE NM_001008216.2(GALE):c.423C>T (p.Tyr141=)SNV Conflicting interpretations of pathogenicity 296835 rs138518245 1:24124290-24124290 1:23797800-23797800
17 GALE NM_001008216.2(GALE):c.879G>A (p.Pro293=)SNV Conflicting interpretations of pathogenicity 296828 rs142332521 1:24122750-24122750 1:23796260-23796260
18 GALE NM_001008216.2(GALE):c.330C>T (p.Thr110=)SNV Conflicting interpretations of pathogenicity 296837 rs377557637 1:24124628-24124628 1:23798138-23798138
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.873+6C>TSNV Uncertain significance 531730 rs1553130228 1:24122993-24122993 1:23796503-23796503
22 GALE NM_001008216.2(GALE):c.140A>C (p.Glu47Ala)SNV Uncertain significance 531729 rs367768055 1:24125202-24125202 1:23798712-23798712
23 GALE NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr)SNV Uncertain significance 572886 rs542486536 1:24124651-24124651 1:23798161-23798161
24 GALE NM_001008216.2(GALE):c.973G>A (p.Gly325Arg)SNV Uncertain significance 658280 1:24122656-24122656 1:23796166-23796166
25 GALE NM_001008216.2(GALE):c.873G>A (p.Lys291=)SNV Uncertain significance 646557 1:24122999-24122999 1:23796509-23796509
26 GALE NM_001008216.2(GALE):c.760G>A (p.Ala254Thr)SNV Uncertain significance 661680 1:24123222-24123222 1:23796732-23796732
27 GALE NM_001008216.2(GALE):c.-77+340G>CSNV Uncertain significance 296838 rs568182391 1:24126862-24126862 1:23800372-23800372
28 GALE NM_001008216.2(GALE):c.873+13_873+14insAinsertion Uncertain significance 296829 rs765063773 1:24122985-24122986 1:23796495-23796496
29 GALE NM_001008216.2(GALE):c.647C>T (p.Ala216Val)SNV Uncertain significance 296831 rs542192037 1:24123428-24123428 1:23796938-23796938
30 GALE NM_001008216.2(GALE):c.-77+241C>GSNV Uncertain significance 296840 rs566996145 1:24126961-24126961 1:23800471-23800471
31 GALE NM_001008216.2(GALE):c.*326_*328dupduplication Uncertain significance 296823 rs557214506 1:24122110-24122111 1:23795620-23795621
32 GALE NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys)SNV Uncertain significance 296827 rs780393850 1:24122706-24122706 1:23796216-23796216
33 GALE NM_001008216.2(GALE):c.*327A>TSNV Uncertain significance 296824 rs535702110 1:24122112-24122112 1:23795622-23795622
34 GALE NM_001008216.2(GALE):c.955G>C (p.Gly319Arg)SNV Uncertain significance 296826 rs752384408 1:24122674-24122674 1:23796184-23796184
35 GALE NM_001008216.2(GALE):c.648G>A (p.Ala216=)SNV Uncertain significance 296830 rs144723215 1:24123427-24123427 1:23796937-23796937
36 GALE NM_001008216.2(GALE):c.506G>A (p.Arg169Gln)SNV Uncertain significance 296832 rs140878602 1:24124207-24124207 1:23797717-23797717
37 GALE NM_001008216.2(GALE):c.450G>A (p.Thr150=)SNV Uncertain significance 296833 rs566884215 1:24124263-24124263 1:23797773-23797773
38 GALE NM_001008216.2(GALE):c.97G>A (p.Asp33Asn)SNV Uncertain significance 167126 rs727503945 1:24125401-24125401 1:23798911-23798911
39 GALE NM_001008216.2(GALE):c.488T>G (p.Phe163Cys)SNV Uncertain significance 656130 1:24124225-24124225 1:23797735-23797735
40 GALE NM_001008216.2(GALE):c.13G>T (p.Val5Leu)SNV Uncertain significance 647056 1:24125485-24125485 1:23798995-23798995
41 GALE , HMGCL NM_001008216.2(GALE):c.-77+311C>TSNV Likely benign 296839 rs113324056 1:24126891-24126891 1:23800401-23800401
42 GALE NM_001008216.2(GALE):c.709+14C>GSNV Benign/Likely benign 92888 rs6692104 1:24123352-24123352 1:23796862-23796862
43 GALE NM_001008216.2(GALE):c.873+13G>ASNV Benign 92889 rs760941 1:24122986-24122986 1:23796496-23796496
44 GALE , HMGCL NM_000191.3(HMGCL):c.*486G>ASNV Benign 296841 rs11714 1:24128467-24128467 1:23801977-23801977

UniProtKB/Swiss-Prot genetic disease variations for Galactose Epimerase Deficiency:

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 Galactose Epimerase Deficiency

Search GEO for disease gene expression data for Galactose Epimerase Deficiency.

Pathways for Galactose Epimerase Deficiency

Pathways related to Galactose Epimerase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Galactose metabolism hsa00052

GO Terms for Galactose Epimerase Deficiency

Biological processes related to Galactose Epimerase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.43 GALT GALK1 GALE
2 galactose metabolic process GO:0006012 9.33 GALT GALK1 GALE
3 galactose catabolic process GO:0019388 9.13 GALT GALK1 GALE
4 galactose catabolic process via UDP-galactose GO:0033499 8.8 GALT GALK1 GALE

Sources for Galactose Epimerase Deficiency

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
Content
Loading form....