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 59
Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency 59 73
Erythrocyte Udp-Galactose-4-Epimerase Deficiency 59
Erythrocyte Epimerase Deficiency Galactosemia 59
Erythrocyte Gale Deficiency 59
Erythrocyte Gale-D 59

Classifications:



External Ids:

Orphanet 59 ORPHA308473
ICD10 via Orphanet 34 E74.2
UMLS 73 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:

41
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 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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