ORPHA:75563
X-linked sideroblastic anemia
Synonyms: XLSA
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- All ages
- Status
- active
X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked sideroblastic anemia | XLSA |
| fr | Anémie sidéroblastique liée à l'X | = en |
| de | Anämie, sideroblastische, X-chromosomale | = en |
| es | Anemia sideroblástica ligada al cromosoma X | = en |
| it | Anemia sideroblastica legata all'X | = en |
| nl | X-gebonden sideroblastische anemie | X-gebonden sideroblastaire anemie · XLSA |
| pt | Anemia sideroblástica ligada ao X | |
| pl | Niedokrwistość syderoblastyczna sprzężona z chromosomem X | = en |
| cs | X-vázaná sideroblastická anémie | = en |
| uk | Х-зчеплена сидеробластна анемія | = en |
| zh | X连锁铁幼粒细胞性贫血 | = en |
| tr | X'e bağlı sideroblastik anemi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300751 | E | validated | |
| ICD-10 | D64.0 | NTBT | attributed | validated |
| ICD-11 | 3A72.00 | NTBT | index | validated |
| MONDO | 0020721 | E | validated | |
| MeSH | C536761 | E | validated | |
| UMLS | C4551511 | E | validated | |
| GARD | 9456 | 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:309813Disorder of porphyrin and heme metabolism
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 |
|---|---|---|---|---|---|---|---|---|
| ALAS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:397 | ENSG00000158578 | 301300 | Xp11.21 | 5'-aminolevulinate synthase 2 | 21309041[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011031 | Abnormality of iron homeostasis | |
| HP:0001903 | Anemia | |
| HP:0012378 | Fatigue | |
| HP:0001324 | Muscle weakness | |
| HP:0000980 | Pallor | |
| Occasional (29-5%) | ||
| HP:0002094 | Dyspnea | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001952 | Glucose intolerance | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75563
- This record as JSON: /data/d/75563.json