Hemolytic anemia due to glutathione reductase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- No data available
- Status
- active
A rare hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies characterized by nearly complete absence of glutathione reductase activity in erythrocytes. Most of the patients present with favism and early-onset cataracts. Severe neonatal jaundice associated with unconjugated hyperbilirubinemia has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemolytic anemia due to glutathione reductase deficiency | |
| fr | Anémie hémolytique par déficit en glutathion réductase | |
| de | Hämolytische Anämie durch Glutathion-Reduktase-Mangel | |
| es | Anemia hemolítica por deficiencia de glutatión reductasa | |
| it | Anemia emolitica da deficit di glutatione reduttasi | |
| nl | Hemolytische anemie door deficiëntie van glutathionreductase | |
| pt | Anemia hemolítica por deficiência de glutationa reductase | |
| pl | Niedokrwistość hemolityczna z powodu niedoboru reduktazy glutationu | |
| cs | Hemolytická anémie způsobená deficitem glutation reduktázy | |
| uk | Гемолітична анемія внаслідок дефіциту глутатіонредуктази | |
| zh | 谷胱甘肽还原酶缺乏所致溶血性贫血 | |
| tr | Glutatyon redüktaz eksikliğine bağlı hemolitik anemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618660 | E | validated | |
| ICD-10 | D55.1 | NTBT | attributed | validated |
| ICD-11 | 3A10.0Y | NTBT | index | validated |
| MONDO | 0019531 | E | validated | |
| UMLS | C5231513 | 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:98370Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GSR | Disease-causing germline mutation(s) in | Assessed | HGNC:4623 | ENSG00000104687 | 138300 | 8p12 | glutathione-disulfide reductase | 17185460[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 947404[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_947404[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/90030
- This record as JSON: /data/d/90030.json