Class I glucose-6-phosphate dehydrogenase deficiency
Synonyms: Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A rare constitutional hemolytic anemia due to an enzyme disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically <10% residual enzyme activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing neonatal jaundice (potentially leading to kernicterus), gallstones, and reticulocytosis and splenomegaly. They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism, which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans, is more common in infants and young children.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Class I glucose-6-phosphate dehydrogenase deficiency | Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency |
| fr | Déficit en glucose-6-phosphate déshydrogénase classe I | Anémie hémolytique sévère par déficit en G6PD · Déficit en G6PD classe I |
| de | Glukose-6-Phosphat-Dehydrogenase-Mangel der Klasse I | Klasse-I-G6PD-Mangel · Schwere hämolytische Anämie durch G6PD-Mangel |
| es | Deficiencia de glucosa-6-fosfato deshidrogenasa clase I | Anemia hemolítica grave por deficiencia de G6PD · Deficiencia de G6PD clase I |
| it | Deficit di glucosio-6-fosfato deidrogenasi di classe I | |
| nl | Deficiëntie van glucose-6-fosfaatdehydrogenase klasse 1 | Ernstige hemolytische anemie door G6PD-deficiëntie · G6PD-deficiëntie klasse 1 |
| pt | Défice da glicose-6-fosfato desidrogenase classe I | |
| pl | Niedobór dehydrogenazy glukozo-6-fosfatazy klasy I | Ciężka niedokrwistość hemolityczna spowodowana niedoborem G6PD · Niedobór G6PD klasy I |
| cs | Deficit glukóza-6-fosfát dehydrogenázy, třída I | Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency · Deficit G6PD třída I · Těžká hemolytická anémie způsobená deficitem G6PD |
| uk | Дефіцит глюкозо-6-фосфатдегідрогенази I класу | Дефіцит G6PD класу I · Тяжка гемолітична анемія внаслідок дефіциту G6PD |
| zh | I类葡萄糖-6-磷酸脱氢酶缺乏症 | G6PD缺乏导致的严重溶血性贫血 |
| tr | Sınıf I glikoz-6-fosfat dehidrojenaz eksikliği | Sınıf I G6PD eksikliği · G6PD eksikliğine bağlı ağır hemolitik anemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300908 | NTBT | validated | |
| ICD-10 | D55.0 | NTBT | attributed | validated |
| ICD-11 | 3A10.00 | NTBT | attributed | validated |
| MONDO | 0010480 | E | validated | |
| MONDO | 10480 | E | validated | |
| UMLS | C0272056 | E | validated | |
| GARD | 6520 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98372Hemolytic anemia due to a disorder of glycolytic enzymes
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| G6PD | Disease-causing germline mutation(s) in | Assessed | HGNC:4057 | ENSG00000160211 | 305900 | Xq28 | glucose-6-phosphate dehydrogenase | 7577654[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20200584[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466026
- This record as JSON: /data/d/466026.json