Erythrocyte galactose epimerase deficiency

Summary

Erythrocyte galactose epimerase deficiency (MONDO:0017691) is a disease. A subtype of galactose epimerase deficiency — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	erythrocyte galactose epimerase deficiency
Mondo ID	MONDO:0017691
Orphanet	308473
SNOMED CT	297238008
UMLS	C0574090
MedGen	657805
GARD	0017392
Is cancer (heuristic)	no

Also known as: erythrocyte epimerase deficiency galactosemia · erythrocyte GALE deficiency · erythrocyte GALE-D · erythrocyte UDP-galactose-4-epimerase deficiency · erythrocyte uridine diphosphate galactose-4-epimerase deficiency

Disease family

This is a subtype of galactose epimerase deficiency. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › galactosemia › galactose epimerase deficiency › erythrocyte galactose epimerase deficiency

Related subtypes (1): generalized galactose epimerase deficiency

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.