Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Synonyms: ATRUS syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the <i>HOXA11</i> gene (7p15).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | ATRUS syndrome |
| fr | Syndrome de synostose radio-ulnaire-thrombocytopénie amégacaryocytique | Syndrome ATRUS |
| de | Radioulnare Synostose-amegakaryozytische Thrombozytopenie-Syndrom | ATRUS-Syndrom · Syndrom der Radioulnar-Synostose mit amegakaryozytärer Thrombozytopenie |
| es | Síndrome de sinostosis radiocubital-trombocitopenia amegacariocítica | |
| it | Sinostosi radio-ulna - trombocitopenia amegacariocitica | Sindrome ATRUS |
| nl | Radio-ulnaire synostose - amegakaryocytaire trombocytopenie-syndroom | ATRUS-syndroom |
| pt | Síndrome de sinostose radio-cubital-trombocitopenia amegacariocítica | Síndrome ATRUS |
| pl | Synostoza promieniowo-łokciowa - małopłytkowość amegakariocytowa | Zespół ATRUS |
| cs | Syndrom zahrnující radioulnární synostózu a amegakaryocytickou trombocytopenii | ATRUS syndrom |
| uk | Синдром радіоульнарного синостозу-амегакаріоцитарної тромбоцитопенії | Синдром ATRUS |
| zh | 桡尺骨融合-无巨核细胞性血小板减少综合征 | ATRUS综合征 |
| tr | Radyo-ulnar sinostoz-amegakaryositik trombositopeni sendromu | ATRUS sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605432 | E | validated | |
| OMIM | 616738 | BTNT | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | 3B64.01 | NTBT | index | validated |
| MONDO | 0011555 | E | validated | |
| UMLS | C4303670 | 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:93459Syndrome with synostosis or other joint formation defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HOXA11 | Disease-causing germline mutation(s) in | Assessed | HGNC:5101 | ENSG00000005073 | 142958 | 7p15.2 | homeobox A11 | 11101832[PMID] |
| MECOM | Disease-causing germline mutation(s) in | Assessed | HGNC:3498 | ENSG00000085276 | 165215 | 3q26.2 | MDS1 and EVI1 complex locus | 26581901[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002974 | Radioulnar synostosis | |
| Frequent (79-30%) | ||
| HP:0004859 | Amegakaryocytic thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0006101 | Finger syndactyly | |
| HP:0001385 | Hip dysplasia | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 11442476[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71289
- This record as JSON: /data/d/71289.json