MCID: EPM005
MIFTS: 23

Epimerase Deficiency Galactosemia

Aliases & Classifications for Epimerase Deficiency Galactosemia

MalaCards integrated aliases for Epimerase Deficiency Galactosemia:

Name: Epimerase Deficiency Galactosemia 24
Udpglucose 4-Epimerase Deficiency Disease 73
Udp-Galactose-4'-Epimerase Deficiency 24
Classical Galactosemia 73
Galactosemia Type Iii 24
Gale Deficiency 24

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Summaries for Epimerase Deficiency Galactosemia

MalaCards based summary : Epimerase Deficiency Galactosemia, also known as udpglucose 4-epimerase deficiency disease, is related to galactose epimerase deficiency and galactosemia, and has symptoms including vomiting, diarrhea and icterus. An important gene associated with Epimerase Deficiency Galactosemia is GALE (UDP-Galactose-4-Epimerase), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Galactose metabolism. The drugs Aspartic Acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Related phenotype is Decreased IL-8 secretion.

GeneReviews: NBK51671

Related Diseases for Epimerase Deficiency Galactosemia

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

# Related Disease Score Top Affiliating Genes
1 galactose epimerase deficiency 32.7 GALE GALK1 GALT
2 galactosemia 32.1 GALE GALK1 GALT
3 generalized galactose epimerase deficiency 11.4
4 erythrocyte galactose epimerase deficiency 11.4
5 noonan syndrome 8 9.9 GALE GALK1
6 carbohydrate metabolic disorder 9.8 GALK1 GALT
7 cataract 9.7 GALK1 GALT
8 galactokinase deficiency 9.6 GALE GALK1 GALT

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



Diseases related to Epimerase Deficiency Galactosemia

Symptoms & Phenotypes for Epimerase Deficiency Galactosemia

UMLS symptoms related to Epimerase Deficiency Galactosemia:


vomiting, diarrhea, icterus

GenomeRNAi Phenotypes related to Epimerase Deficiency Galactosemia 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 Epimerase Deficiency Galactosemia

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Aspartic Acid Phase 2
2 Neurotransmitter Agents Phase 2
3 arginine Phase 2
4 N-Methylaspartate Phase 2
5 Excitatory Amino Acid Agonists Phase 2
6 Excitatory Amino Acids Phase 2
7 Hormones Not Applicable
8 Follicle Stimulating Hormone Not Applicable
9 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
10 Hormone Antagonists Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Arginine on Classic Galactosemia Completed NCT03580122 Phase 2 Arginine Aspartate
2 Inactive FSH in Galactosemia Unknown status NCT00619333 Not Applicable follitropin and lutropin
3 Glycosylation in Patients With Galactosaemia Completed NCT02218632 Not Applicable
4 Intervention and Outcomes in Duarte Galactosemia Completed NCT02519504
5 Pregnancy Chances in Classic Galactosemia Completed NCT02091128
6 The Early History of Universal Screening for Metabolic Disorders Completed NCT00309400
7 Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland Recruiting NCT03534752

Search NIH Clinical Center for Epimerase Deficiency Galactosemia

Genetic Tests for Epimerase Deficiency Galactosemia

Anatomical Context for Epimerase Deficiency Galactosemia

Publications for Epimerase Deficiency Galactosemia

Articles related to Epimerase Deficiency Galactosemia:

(show all 17)
# Title Authors Year
1
A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype. ( 26565537 )
2016
2
Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia. ( 23732289 )
2013
3
Generalized epimerase deficiency galactosemia. ( 20725869 )
2010
4
Epimerase-deficiency galactosemia is not a binary condition. ( 16385452 )
2006
5
Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia. ( 15639193 )
2005
6
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. ( 11279193 )
2001
7
A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia. ( 11903335 )
2001
8
[Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report]. ( 11258124 )
2001
9
Identification and characterization of a mutation, in the human UDP- galactose-4-epimerase gene, associated with generalized epimerase- deficiency galactosemia. ( 9973283 )
1999
10
Human UDP-galactose 4'epimerase (GALE) gene and identification of five missense mutations in patients with epimerase deficiency galactosemia. ( 9538513 )
1998
11
[UDP-galactose-4-epimerase deficiency]. ( 9589979 )
1998
12
Characterization of two mutations associated with epimerase- deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. ( 9326324 )
1997
13
Epimerase Deficiency Galactosemia ( 21290786 )
1993
14
UDP galactose-4-epimerase deficiency in a 5.5-year-old girl with unilateral cataract. ( 8295413 )
1993
15
Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program. ( 7318169 )
1981
16
A new mass screening method of detecting UDP-galactose-4-epimerase deficiency. ( 7404573 )
1980
17
Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture. ( 1748 )
1975

Variations for Epimerase Deficiency Galactosemia

Expression for Epimerase Deficiency Galactosemia

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

Pathways for Epimerase Deficiency Galactosemia

GO Terms for Epimerase Deficiency Galactosemia

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.43 GALE GALK1 GALT
2 galactose catabolic process via UDP-galactose GO:0033499 9.16 GALK1 GALT
3 galactose metabolic process GO:0006012 9.13 GALE GALK1 GALT
4 galactose catabolic process GO:0019388 8.8 GALE GALK1 GALT

Sources for Epimerase Deficiency Galactosemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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