ORPHA:231393
Beta-thalassemia-X-linked thrombocytopenia syndrome
Synonyms: XLTT
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- No data available
- Status
- active
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beta-thalassemia-X-linked thrombocytopenia syndrome | XLTT |
| fr | Bêta-thalassémie-thrombocytopénie liée à l'X | Thalassémie bêta-thrombocytopénie liée à l'X · XLTT |
| de | Beta-Thalassämie-X-chromosomale Thrombozytopenie-Syndrom | = en |
| es | Síndrome de beta-talasemia-trombocitopenia ligada al cromosoma X | = en |
| it | Beta talassemia - trombocitopenia legata all'X | = en |
| nl | Bèta-thalassemie - X-gebonden trombocytopenie-syndroom | = en |
| pt | Talassemia beta - trombocitopenia ligada ao X | |
| pl | Beta-talasemia - trombocytopenia sprzężona z chromosomem X | = en |
| cs | Syndrom zahrnující beta-talasémii a X-vázanou trombocytopenii | = en |
| uk | Синдром бета-таласемії - Х-зчепленої тромбоцитопенії | = en |
| zh | β-地中海贫血-X连锁血小板减少综合征 | X连锁血小板减少综合征 |
| tr | Beta-talasemi-X'e bağlı trombositopeni sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 314050 | E | validated | |
| ICD-10 | D69.4 | NTBT | attributed | validated |
| ICD-11 | 3A50.2 | NTBT | index | validated |
| MONDO | 0010745 | E | validated | |
| MeSH | C564050 | E | validated | |
| UMLS | C1839161 | 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 (1):
- ORPHA:231386Syndromic beta-thalassemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4170 | ENSG00000102145 | 305371 | Xp11.23 | GATA binding protein 1 | 20301538[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0011902 | Abnormal hemoglobin | |
| HP:0011869 | Abnormal platelet function | |
| HP:0001903 | Anemia | |
| HP:0001744 | Splenomegaly | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231393
- This record as JSON: /data/d/231393.json