WT limb-blood syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- historical
A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | WT limb-blood syndrome | |
| fr | Syndrome WT membres-sang | |
| de | WT-Gliedmaßen-Blut-Syndrom | |
| es | Síndrome WT extremidades-sangre | |
| it | Sindrome WT arti-sangue | |
| nl | WT bloedsyndroom van ledematen | |
| pt | Síndrome WT membros-sangue | |
| pl | Zespół WT kończyn i krwi | |
| cs | WT syndrom | |
| uk | Синдром аномалії кінцівок-гематологічних порушень WT | |
| zh | WT肢-血液综合征 | |
| tr | WT ekstremite-kan sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 194350 | E | validated | |
| ICD-10 | D61.0 | NTBT | attributed | validated |
| ICD-11 | 3A70.0 | NTBT | index | validated |
| MONDO | 0008688 | E | validated | |
| MeSH | C536751 | E | validated | |
| UMLS | C1327917 | E | validated | |
| GARD | 39 | 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 (2):
- ORPHA:68383Rare constitutional aplastic anemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders - ORPHA:93459Syndrome with synostosis or other joint formation defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 890097[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_890097[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/3466
- This record as JSON: /data/d/3466.json