ORPHA:308473
Erythrocyte galactose epimerase deficiency
Synonyms: Erythrocyte GALE deficiency · Erythrocyte GALE-D · Erythrocyte UDP-galactose-4-epimerase deficiency · Erythrocyte epimerase deficiency galactosemia · Erythrocyte uridine diphosphate galactose-4-epimerase deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Galactose epimerase deficiency
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Erythrocyte galactose epimerase deficiency | Erythrocyte GALE deficiency · Erythrocyte GALE-D · Erythrocyte UDP-galactose-4-epimerase deficiency · Erythrocyte epimerase deficiency galactosemia · Erythrocyte uridine diphosphate galactose-4-epimerase deficiency |
| fr | Déficit érythrocytaire en galactose épimérase | Déficit érythrocytaire en GALE · Déficit érythrocytaire en UDP-galactose-4-épimérase · Déficit érythrocytaire en uridine diphosphate-galactose-4-épimérase · GALE-D érythrocytaire |
| de | Galaktose-Epimerase-Mangel der Erythrozyten | GALE, erythrozytärer · GALE-D, erythrozytärer · UDP-Galaktose-4-Epimerase-Mangel der Erythrozyten · Uridin-Diphosphat-Galaktose-4-Epimerase-Mangel |
| es | Deficiencia eritrocitaria de galactosa epimerasa | Deficiencia eritrocitaria de GALE · Deficiencia eritrocitaria de UDP-galactosa 4-epimerasa · Deficiencia eritrocitaria de uridina difosfato galactosa-4-epimerasa · GALE-D eritrocitaria · Galactosemia por deficiencia de epimerasa eritrocitaria |
| it | Deficit di galattosio epimerasi negli eritrociti | Deficit di GALE negli eritrociti · Deficit di UDP-galattosio-4-epimerasi negli eritrociti · Deficit di uridina difosfato galattosio-4-epimerasi negli eritrociti · GALE-D negli eritrociti · Galattosemia da deficit di epimerasi negli eritrociti |
| nl | Erytrocyt galactose-epimerasedeficiëntie | Erytrocyt GALE-D · Erytrocyt GALE-deficiëntie · Erytrocyt UDP-galactose-4-epimerasedeficiëntie · Erytrocyt uridinedifosfaatgalactose-4-epimerasedeficiëntie · Galactosemie door erytrocyt epimerase-deficiëntie |
| pt | Défice de galactose epimerase eritrocitária | |
| pl | Niedobór epimerazy galaktozy czerwonokrwinkowej | Galaktozemia z powodu niedoboru epimerazy czerwonokrwinkowej · GALE-D czerwonokrwinkowa · Niedobór difosforanu urydyny galaktozo-4-epimerazy czerwonokrwinkowej · Niedobór GALE czerwonokrwinkowej · Niedobór UDP-galaktozo-4-epimerazy czerwonokrwinkowej |
| cs | Deficit UDP-galaktóza-4-epimerázy v erytrocytech | Deficit GALE v erytrocytech · GALE-D v erytrocytech · Galaktosémie s deficitem uridindifosfát-galaktóza-4-epimerázy · Deficit uridindifosfát-galaktóza-4-epimerázy v erytrocytech |
| uk | Дефіцит галактозоепімерази еритроцитів | Еритроцитарна галактоземія з дефіцитом епімерази еритроцитів · Дефіцит еритроцитарного GALE · Еритроцитарний GALE-D · Дефіцит еритроцитарної УДФ-галактозо-4-епімерази · Дефіцит еритроцитарної уридиндифосфат-галактозо-4-епімерази |
| zh | 红细胞半乳糖异构酶缺乏症 | 红细胞尿苷二磷酸半乳糖4异构酶缺乏症 |
| tr | Eritrosit galaktoz epimeraz eksikliği | Eritrosit GALE-D · Eritrosit GALE eksikliği · Eritrosit epimeraz eksikliği olan galaktozemi · Eritrosit UDP-galaktoz-4-epimeraz eksikliği · Eritrosit üridin difosfat galaktoz-4-epimeraz eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230350 | NTBT | validated | |
| ICD-10 | E74.2 | NTBT | attributed | validated |
| ICD-11 | 5C51.4Y | NTBT | index | validated |
| MONDO | 0017691 | E | validated | |
| UMLS | C0574090 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79238Galactose epimerase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare renal diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GALE | Disease-causing germline mutation(s) in | Assessed | HGNC:4116 | ENSG00000117308 | 606953 | 1p36.11 | UDP-galactose-4-epimerase |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/308473
- This record as JSON: /data/d/308473.json