MCID: ERY041
MIFTS: 10

Erythrocyte Galactose Epimerase Deficiency

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

Aliases & Classifications for Erythrocyte Galactose Epimerase Deficiency

MalaCards integrated aliases for Erythrocyte Galactose Epimerase Deficiency:

Name: Erythrocyte Galactose Epimerase Deficiency 60
Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency 60 74
Erythrocyte Udp-Galactose-4-Epimerase Deficiency 60
Erythrocyte Epimerase Deficiency Galactosemia 60
Erythrocyte Gale Deficiency 60
Erythrocyte Gale-D 60

Classifications:



External Ids:

ICD10 via Orphanet 35 E74.2
Orphanet 60 ORPHA308473
UMLS 74 C0574090

Summaries for Erythrocyte Galactose Epimerase Deficiency

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

Related Diseases for Erythrocyte Galactose Epimerase Deficiency

Symptoms & Phenotypes for Erythrocyte Galactose Epimerase Deficiency

Drugs & Therapeutics for Erythrocyte Galactose Epimerase Deficiency

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

Genetic Tests for Erythrocyte Galactose Epimerase Deficiency

Anatomical Context for Erythrocyte Galactose Epimerase Deficiency

MalaCards organs/tissues related to Erythrocyte Galactose Epimerase Deficiency:

42
Liver, Eye

Publications for Erythrocyte Galactose Epimerase Deficiency

Variations for Erythrocyte Galactose Epimerase Deficiency

Expression for Erythrocyte Galactose Epimerase Deficiency

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

Pathways for Erythrocyte Galactose Epimerase Deficiency

GO Terms for Erythrocyte Galactose Epimerase Deficiency

Sources for Erythrocyte Galactose Epimerase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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