MCID: GNR029
MIFTS: 14

Generalized Galactose Epimerase Deficiency

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

Aliases & Classifications for Generalized Galactose Epimerase Deficiency

MalaCards integrated aliases for Generalized Galactose Epimerase Deficiency:

Name: Generalized Galactose Epimerase Deficiency 59
Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency 59 73
Generalized Udp-Galactose-4-Epimerase Deficiency 59
Generalized Epimerase Deficiency Galactosemia 59
Generalized Gale Deficiency 59
Generalized Gale-D 59

Classifications:



External Ids:

Orphanet 59 ORPHA308487
ICD10 via Orphanet 34 E74.2
UMLS 73 C0574089

Summaries for Generalized Galactose Epimerase Deficiency

MalaCards based summary : Generalized Galactose Epimerase Deficiency, also known as generalized uridine diphosphate galactose-4-epimerase deficiency, is related to galactosemia and epimerase deficiency galactosemia. An important gene associated with Generalized Galactose Epimerase Deficiency is GALE (UDP-Galactose-4-Epimerase). Affiliated tissues include liver and eye.

Related Diseases for Generalized Galactose Epimerase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 galactosemia 10.3
2 epimerase deficiency galactosemia 10.3

Symptoms & Phenotypes for Generalized Galactose Epimerase Deficiency

Drugs & Therapeutics for Generalized Galactose Epimerase Deficiency

Search Clinical Trials , NIH Clinical Center for Generalized Galactose Epimerase Deficiency

Genetic Tests for Generalized Galactose Epimerase Deficiency

Anatomical Context for Generalized Galactose Epimerase Deficiency

MalaCards organs/tissues related to Generalized Galactose Epimerase Deficiency:

41
Liver, Eye

Publications for Generalized Galactose Epimerase Deficiency

Articles related to Generalized Galactose Epimerase Deficiency:

# Title Authors Year
1
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. ( 3783336 )
1986
2
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency. ( 6549612 )
1983

Variations for Generalized Galactose Epimerase Deficiency

Expression for Generalized Galactose Epimerase Deficiency

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

Pathways for Generalized Galactose Epimerase Deficiency

GO Terms for Generalized Galactose Epimerase Deficiency

Sources for Generalized Galactose Epimerase Deficiency

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
Content
Loading form....