EDG
MCID: GLC011
MIFTS: 46

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 57 53 59 37 13 40
Udp-Galactose-4-Epimerase Deficiency 57 75 53 59
Gale Deficiency 57 53 59 55
Galactosemia Type 3 53 59 74
Uridine Diphosphate Galactose-4-Epimerase Deficiency 53 59
Epimerase Deficiency Galactosemia 53 59
Gale-D 53 59
Udpglucose 4-Epimerase Deficiency Disease 72
Epimerase-Deficiency Galactosemia 74
Classical Galactosemia 72
Galactosemia Iii 57
Galactosemia 3 53
Edg 74

Characteristics:

Orphanet epidemiological data:

59
galactose epimerase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
galactose epimerase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 230350
KEGG 37 H02010
ICD10 via Orphanet 34 E74.2
UMLS via Orphanet 73 C0751161
Orphanet 59 ORPHA79238
MedGen 42 C0751161
UMLS 72 C0268151 C0751161

Summaries for Galactose Epimerase Deficiency

OMIM : 57 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 udp-galactose-4-epimerase deficiency, is related to galactosemia and epimerase deficiency galactosemia, 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, breast and eye, and related phenotypes are intellectual disability and muscular hypotonia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79238DefinitionA very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.EpidemiologyOverall prevalence is not known but the disorder is thought to be very rare. Annual incidence is not known.Clinical descriptionThe 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.EtiologyGalactose epimerase deficiency is caused by mutations in the GALE gene (1p36) encoding the UDP-galactose 4-epimerase enzyme.Genetic counselingGalactose epimerase deficiency is inherited in an autosomal recessive manner.PrognosisOccurrence of these symptoms can be resolved or prevented by implementing a galactose-restricted diet.Visit the Orphanet disease page for more resources.

KEGG : 37
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 : 74 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 : 75 Galactosemia (British galactosaemia, from Greek ????????? + ????, meaning galactose + blood,... more...

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 1008)
# Related Disease Score Top Affiliating Genes
1 galactosemia 31.8 GALT GALK1 GALE
2 epimerase deficiency galactosemia 30.9 GALT GALK1 GALE
3 galactokinase deficiency 28.4 GALT GALK1 GALE
4 generalized galactose epimerase deficiency 12.5
5 erythrocyte galactose epimerase deficiency 12.5
6 melanoma 11.6
7 hypercholesterolemia, familial, 1 11.4
8 lentigines 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 10.5
41 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
42 cataract 10.5
43 tricuspid valve insufficiency 10.5
44 allergic encephalomyelitis 10.4
45 cytokine deficiency 10.3
46 mitral valve stenosis 10.3
47 rapidly involuting congenital hemangioma 10.3
48 hair whorl 10.3
49 inherited metabolic disorder 10.2
50 aminoaciduria 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:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
4 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
5 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
6 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
7 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
8 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
9 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
10 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
11 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
12 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
13 impairment of galactose metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004915
14 failure to thrive 32 HP:0001508
15 delayed speech and language development 32 HP:0000750
16 sensorineural hearing impairment 32 HP:0000407
17 vomiting 32 HP:0002013
18 generalized hypotonia 32 HP:0001290
19 delayed gross motor development 32 HP:0002194
20 galactosuria 32 HP:0012023
21 hypergalactosemia 32 HP:0012024

Symptoms via clinical synopsis from OMIM:

57
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:

41
Liver, Breast, Eye

Publications for Galactose Epimerase Deficiency

Articles related to Galactose Epimerase Deficiency:

(show all 40)
# Title Authors PMID Year
1
Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. 8 71
9538513 1998
2
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. 8 71
9326324 1997
3
Epimerase-deficiency galactosemia is not a binary condition. 9 8
16385452 2006
4
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. 9 8
9700591 1998
5
Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase. 9 8
8593531 1995
6
UDP galactose-4-epimerase deficiency in a 5.5-year-old girl with unilateral cataract. 38 8
8295413 1993
7
Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program. 38 8
7318169 1981
8
Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture. 38 8
1748 1975
9
Epimerase Deficiency Galactosemia 71
21290786 2011
10
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. 8
11279193 2001
11
Generalised uridine diphosphate galactose-4-epimerase deficiency. 8
10086948 1999
12
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. 8
9973283 1999
13
A patient with severe type of epimerase deficiency galactosaemia. 8
3141714 1988
14
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. 8
3783336 1986
15
Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant. 8
3948246 1986
16
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. 8
6549612 1983
17
Co-purification and characterization of UDP-glucose 4-epimerase and UDP-N-acetylglucosamine 4-epimerase from porcine submaxillary glands. 8
6885800 1983
18
Prenatal determination of uridine diphosphate galactose-4-epimerase activity. 8
6844265 1983
19
Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. 8
6408303 1983
20
Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. 8
7305435 1981
21
Uridine diphosphate galactose 4-epimerase deficiency. 8
7227386 1981
22
Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation. 8
4785150 1973
23
Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication. 8
4644860 1972
24
Galactose metabolism and cell "sociology". 8
5319435 1965
25
[Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report]. 9 38
11258124 2001
26
[UDP-galactose-4-epimerase deficiency]. 9 38
9589979 1998
27
Screening for galactosemia: is there a place for it? 38
31213878 2019
28
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). 38
29261178 2018
29
Galactose Epimerase Deficiency: Expanding the Phenotype. 38
28247339 2017
30
[Two cases of UDP-galactose-4'-epimerase deficiency]. 38
27055432 2016
31
A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype. 38
26565537 2016
32
The structural and molecular biology of type III galactosemia. 9
16611573 2006
33
Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase. 9
16302980 2005
34
The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients. 9
16301867 2005
35
Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia. 9
15639193 2005
36
Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging. 9
14970742 2004
37
Molecular basis of disorders of human galactose metabolism: past, present, and future. 9
11001796 2000
38
A new method of screening for inherited disorders of galactose metabolism. 38
7042875 1982
39
A new mass screening method of detecting UDP-galactose-4-epimerase deficiency. 38
7404573 1980
40
Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families. 38
404274 1977

Variations for Galactose Epimerase Deficiency

ClinVar genetic disease variations for Galactose Epimerase Deficiency:

6 (show all 43)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GALE NM_001008216.2(GALE): c.956G> A (p.Gly319Glu) single nucleotide variant other rs28940885 1:24122673-24122673 1:23796183-23796183
2 GALE NM_001008216.2(GALE): c.770A> G (p.Lys257Arg) single nucleotide variant Benign/Likely benign, other rs28940884 1:24123212-24123212 1:23796722-23796722
3 GALE NM_001008216.2(GALE): c.308A> G (p.Asp103Gly) single nucleotide variant Pathogenic rs28940883 1:24124650-24124650 1:23798160-23798160
4 GALE NM_001008216.2(GALE): c.269G> A (p.Gly90Glu) single nucleotide variant Pathogenic rs28940882 1:24124689-24124689 1:23798199-23798199
5 GALE NM_001008216.2(GALE): c.101A> G (p.Asn34Ser) single nucleotide variant Pathogenic rs121908046 1:24125397-24125397 1:23798907-23798907
6 GALE NM_001008216.2(GALE): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs121908045 1:24123618-24123618 1:23797128-23797128
7 GALE NM_001008216.2(GALE): c.749del (p.Gly250fs) deletion Pathogenic 1:24123233-24123233 1:23796745-23796745
8 GALE NM_001008216.2(GALE): c.937C> A (p.Leu313Met) single nucleotide variant Pathogenic rs3180383 1:24122692-24122692 1:23796202-23796202
9 GALE NM_001008216.2(GALE): c.505C> T (p.Arg169Trp) single nucleotide variant Pathogenic rs137853859 1:24124208-24124208 1:23797718-23797718
10 GALE NM_001008216.2(GALE): c.905G> A (p.Gly302Asp) single nucleotide variant Pathogenic rs137853861 1:24122724-24122724 1:23796234-23796234
11 GALE NM_001008216.2(GALE): c.280G> A (p.Val94Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908047 1:24124678-24124678 1:23798188-23798188
12 GALE NM_001008216.2(GALE): c.715C> T (p.Arg239Trp) single nucleotide variant Likely pathogenic rs137853860 1:24123267-24123267 1:23796777-23796777
13 GALE NM_001008216.2(GALE): c.879G> A (p.Pro293=) single nucleotide variant Conflicting interpretations of pathogenicity rs142332521 1:24122750-24122750 1:23796260-23796260
14 GALE NM_001008216.2(GALE): c.912G> A (p.Val304=) single nucleotide variant Conflicting interpretations of pathogenicity rs143694860 1:24122717-24122717 1:23796227-23796227
15 GALE NM_001008216.2(GALE): c.-77+340G> C single nucleotide variant Uncertain significance rs568182391 1:24126862-24126862 1:23800372-23800372
16 GALE NM_001008216.2(GALE): c.*192T> C single nucleotide variant Uncertain significance rs576468712 1:24122247-24122247 1:23795757-23795757
17 GALE NM_001008216.2(GALE): c.447C> G (p.Pro149=) single nucleotide variant Uncertain significance rs571625657 1:24124266-24124266 1:23797776-23797776
18 GALE NM_001008216.2(GALE): c.330C> T (p.Thr110=) single nucleotide variant Uncertain significance rs377557637 1:24124628-24124628 1:23798138-23798138
19 GALE NM_001008216.2(GALE): c.97G> A (p.Asp33Asn) single nucleotide variant Uncertain significance rs727503945 1:24125401-24125401 1:23798911-23798911
20 GALE NM_001008216.2(GALE): c.*327A> T single nucleotide variant Uncertain significance rs535702110 1:24122112-24122112 1:23795622-23795622
21 GALE NM_001008216.2(GALE): c.955G> C (p.Gly319Arg) single nucleotide variant Uncertain significance rs752384408 1:24122674-24122674 1:23796184-23796184
22 GALE NM_001008216.2(GALE): c.648G> A (p.Ala216=) single nucleotide variant Uncertain significance rs144723215 1:24123427-24123427 1:23796937-23796937
23 GALE NM_001008216.2(GALE): c.506G> A (p.Arg169Gln) single nucleotide variant Uncertain significance rs140878602 1:24124207-24124207 1:23797717-23797717
24 GALE NM_001008216.2(GALE): c.450G> A (p.Thr150=) single nucleotide variant Uncertain significance rs566884215 1:24124263-24124263 1:23797773-23797773
25 GALE NM_001008216.2(GALE): c.423C> T (p.Tyr141=) single nucleotide variant Uncertain significance rs138518245 1:24124290-24124290 1:23797800-23797800
26 GALE NM_001008216.2(GALE): c.873+13_873+14insA insertion Uncertain significance rs765063773 1:24122985-24122986 1:23796495-23796496
27 GALE NM_001008216.2(GALE): c.647C> T (p.Ala216Val) single nucleotide variant Uncertain significance rs542192037 1:24123428-24123428 1:23796938-23796938
28 GALE NM_001008216.2(GALE): c.369G> A (p.Gly123=) single nucleotide variant Uncertain significance rs138148991 1:24124344-24124344 1:23797854-23797854
29 GALE NM_001008216.2(GALE): c.-77+241C> G single nucleotide variant Uncertain significance rs566996145 1:24126961-24126961 1:23800471-23800471
30 GALE NM_001008216.2(GALE): c.*326_*328dup duplication Uncertain significance rs557214506 1:24122111-24122113 1:23795621-23795623
31 GALE NM_001008216.2(GALE): c.923A> G (p.Tyr308Cys) single nucleotide variant Uncertain significance rs780393850 1:24122706-24122706 1:23796216-23796216
32 GALE NM_001008216.2(GALE): c.307G> T (p.Asp103Tyr) single nucleotide variant Uncertain significance 1:24124651-24124651 1:23798161-23798161
33 GALE NM_001008216.2(GALE): c.140A> C (p.Glu47Ala) single nucleotide variant Uncertain significance rs367768055 1:24125202-24125202 1:23798712-23798712
34 GALE NM_001008216.2(GALE): c.873+6C> T single nucleotide variant Uncertain significance rs1553130228 1:24122993-24122993 1:23796503-23796503
35 GALE NM_001008216.2(GALE): c.760G> A (p.Ala254Thr) single nucleotide variant Uncertain significance 1:24123222-24123222 1:23796732-23796732
36 GALE NM_001008216.2(GALE): c.873G> A (p.Lys291=) single nucleotide variant Uncertain significance 1:24122999-24122999 1:23796509-23796509
37 GALE NM_001008216.2(GALE): c.973G> A (p.Gly325Arg) single nucleotide variant Uncertain significance 1:24122656-24122656 1:23796166-23796166
38 GALE NM_001008216.2(GALE): c.13G> T (p.Val5Leu) single nucleotide variant Uncertain significance 1:24125485-24125485 1:23798995-23798995
39 GALE NM_001008216.2(GALE): c.488T> G (p.Phe163Cys) single nucleotide variant Uncertain significance 1:24124225-24124225 1:23797735-23797735
40 GALE ; HMGCL NM_001008216.2(GALE): c.-77+311C> T single nucleotide variant Likely benign rs113324056 1:24126891-24126891 1:23800401-23800401
41 GALE NM_001008216.2(GALE): c.709+14C> G single nucleotide variant Benign/Likely benign rs6692104 1:24123352-24123352 1:23796862-23796862
42 GALE ; HMGCL NM_000191.3(HMGCL): c.*486G> A single nucleotide variant Benign rs11714 1:24128467-24128467 1:23801977-23801977
43 GALE NM_001008216.2(GALE): c.873+13G> A single nucleotide variant Benign rs760941 1:24122986-24122986 1:23796496-23796496

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

74 (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:

37
# 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 catabolic process via UDP-galactose GO:0033499 9.16 GALT GALK1
3 galactose metabolic process GO:0006012 9.13 GALT GALK1 GALE
4 galactose catabolic process GO:0019388 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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