ORPHA:308487
Generalized galactose epimerase deficiency
Synonyms: Generalized GALE deficiency · Generalized GALE-D · Generalized UDP-galactose-4-epimerase deficiency · Generalized epimerase deficiency galactosemia · Generalized 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 | Generalized galactose epimerase deficiency | Generalized GALE deficiency · Generalized GALE-D · Generalized UDP-galactose-4-epimerase deficiency · Generalized epimerase deficiency galactosemia · Generalized uridine diphosphate galactose-4-epimerase deficiency |
| fr | Déficit généralisé en galactose épimérase | Déficit généralisé en GALE · Déficit généralisé en UDP-galactose-4-épimérase · Déficit généralisé en uridine diphosphate-galactose-4-épimérase · GALE-D généralisé |
| de | Galaktose-Epimerase-Mangel, generalisierter | GALE, generalisiert · GALE-D, generalisiert · UDP-Galaktose-4-Epimerase-Mangel, generalisierter · Uridin-Diphosphat-Galaktose-4-Epimerase-Mangel, generalisierter |
| es | Deficiencia generalizada de galactosa epimerasa | Deficiencia de uridina difosfato galactosa-4-epimerasa generalizada · Deficiencia generalizada de GALE · Deficiencia generalizada de UDP-galactosa 4-epimerasa · GALE-D generalizado |
| it | Deficit generalizzato di galattosio epimerasi | GALE-D generalizzato · Galattosemia da deficit generalizzato di epimerasi · Deficit generalizzato di GALE · Deficit generalizzato di UDP-galattosio-4-epimerasi · Deficit generalizzato di uridina disfofato galattosio-4-epimerasi |
| nl | Gegeneraliseerde galactose-epimerasedeficiëntie | Gegeneraliseerde GALE-D · Gegeneraliseerde GALE-deficiëntie · Gegeneraliseerde UDP-galactose-4-epimerasedeficiëntie · Gegeneraliseerde epimerasedeficiëntiegalactosemie · Gegeneraliseerde uridinedifosfaatgalactose-4-epimerasedeficiëntie |
| pt | Défice generalizado de galactose epimerase | |
| pl | Uogólniony Niedobór epimerazy galaktozy | Galaktozemia z powodu uogólnionego niedoboru epimerazy · Uogólniony GALE-D · Uogólniony Niedobór diforforanu urydyny galaktozo-4-epimerazy · Uogólniony Niedobór GALE · Uogólniony Niedobór UDP-galaktozo-4-epimerazy |
| cs | Generalizovaný deficit UDP-galaktóza-4-epimerázy | Generalizovaný deficit GALE · Generalizovaný GALE-D · Galaktosémie s generalizovaným deficitem uridindifosfát-galaktóza-4-epimerázy · Generalizovaný deficit uridindifosfát-galaktóza-4-epimerázy |
| uk | Генералізована недостатність галактозоепімерази | Генералізована епімеразодефіцитна галактоземія · Генералізований дефіцит GALE · Генералізована GALE-D · Генералізована недостатність УДФ-галактозо-4-епімерази · Генералізований дефіцит уридиндифосфат-галактозо-4-епімерази |
| zh | 全谱半乳糖异构酶缺乏症 | 尿苷二磷酸半乳糖4异构酶完全缺乏症 |
| tr | Jeneralize galaktoz epimeraz eksikliği | Jeneralize GALE-D · Jeneralize GALE eksikliği · Jeneralize epimeraz eksikliği olan galaktozemi · Jeneralize UDP-galaktoz-4-epimeraz eksikliği · Jeneralize 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 | 0017692 | E | validated | |
| UMLS | C0574089 | 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/308487
- This record as JSON: /data/d/308487.json