ORPHA:255132
Adult-onset autosomal recessive sideroblastic anemia
Synonyms: GLRX5-related sideroblastic anemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (<i>GLRX5</i>) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset autosomal recessive sideroblastic anemia | GLRX5-related sideroblastic anemia |
| fr | Anémie sidéroblastique autosomique récessive de l'adulte | Anémie sidéroblastique associée à GLRX5 |
| de | Sideroblastische Anämie mit Beginn im Erwachsenenalter, autosomal-rezessiv | GLRX5-abhängige sideroblastische Anämie |
| es | Anemia sideroblástica autosómica recesiva de inicio en el adulto | Anemia sideroblástica asociada a GLRX5 |
| it | Anemia sideroblastica autosomica recessiva a esordio nell'età adulta | Anemia sideroblastica GLRX5-correlata |
| nl | Autosomaal recessieve sideroblastische anemie met aanvang op volwassen leeftijd | GLRX5-gerelateerde sideroblastische anemie |
| pt | Anemia sideroblástica autossómica recessiva de início no adulto | Anemia sideroblástica refratária à piridoxina autossómica recessiva |
| pl | Autosomalna recesywna niedokrwistość syderoblastyczna o początku w wieku dorosłym | Niedokrwistość syderoblastyczna związana z GLRX5 |
| cs | Autozomálně recesivní sideroblastická anémie dospělého věku | GLRX5-vázaná sideroblastická anémie |
| uk | Аутосомно-рецесивна сидеробластна анемія, що починається в дорослому віці | Сидеробластна анемія, повязана з GLRX5 |
| zh | 成人常染色体隐性遗传性铁粒幼细胞贫血 | GLRX5基因相关铁粒幼细胞贫血 |
| tr | Erişkin başlangıçlı otozomal resesif sideroblastik anemi | GLRX5-ilişkili sideroblastik anemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616860 | E | validated | |
| ICD-10 | D64.0 | NTBT | attributed | validated |
| ICD-11 | 3A72.00 | NTBT | index | validated |
| MONDO | 0014804 | E | validated | |
| UMLS | C4304054 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98362Constitutional sideroblastic anemia
rare genetic diseases; rare hematological diseases - ORPHA:254830Mitochondrial substrate carrier disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLRX5 | Disease-causing germline mutation(s) in | Assessed | HGNC:20134 | ENSG00000182512 | 609588 | 14q32.13 | glutaredoxin 5 | 17485548[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17485548[PMID]_25342667[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 17485548[PMID]_25342667[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.
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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/255132
- This record as JSON: /data/d/255132.json