TEMPI syndrome
Synonyms: Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome
- Type
- Clinical syndrome
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TEMPI syndrome | Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome |
| fr | Syndrome TEMPI | Syndrome de télangiectasie-érythrocytose-gammopathie monoclonale-épanchements périnéphrétiques-shunt pulmonaire |
| de | TEMPI-Syndrom | Telangiektasie - Erythrozytose - monoklonale Gammopathie - paranephritischer Abszess - Intrapulmonaler Shunt |
| es | Síndrome TEMPI | Telangiectasia-eritrocitosis-gammapatía monoclonal-colecciones líquidas perirrenales-derivación intrapulmonar |
| it | Sindrome TEMPI | Telangectasia - eritrocitosi - gammopatia monoclonale - ascessi perinefrici - shunt intrapolmonare |
| nl | TEMPI-syndroom | Teleangiëctasie - erytrocytose - monoklonale gammopathie - vloeistof rond de nieren - intrapulmonale shunting-syndroom |
| pt | Síndrome TEMPI | |
| pl | Zespół TEMPI | Teleangiektazja - erytrocytoza - gammopatia monoklonalna - gromadzenie się płynu w przestrzeni okołonerkowej - przeciek wewnątrzpłucny |
| cs | TEMPI syndrom | Syndrom zahrnující teleangiektázii, erytrocytózu, monoklonální gamapatii, perinefrické kolekce tekutiny a intrapulmonární zkraty |
| uk | Синдром TEMPI | Синдром телеангіектазії - еритроцитозу - моноклональної гамопатії - перинефрального скупчення рідини - внутрішньолегеневого шунтування |
| zh | TEMPI综合征（毛细血管扩张-红细胞增多症-单克隆γ病-肾周积液收集-肺内分流综合征） | 毛细血管扩张-红细胞增多症-单克隆γ病-肾周积液收集-肺内分流综合征 |
| tr | TEMPI sendromu | Telanjiektazi-eritrositoz-monoklonal gammopati-perinefrik-sıvı koleksiyonları-intrapulmoner şant sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D47.2 | NTBT | attributed | validated |
| ICD-11 | 2A83.Y | NTBT | attributed | validated |
| MONDO | 0017286 | E | validated | |
| UMLS | C3854394 | E | validated | |
| GARD | 10962 | E | validated | |
| MedDRA | 10075076 | 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 (1):
- ORPHA:182222Rare systemic disease
rare systemic and rheumatological 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 | 10 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
14 annotations · validated 2016-06-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0012418 | Hypoxemia | |
| HP:0003237 | Increased circulating IgG level | Diagnostic criterion |
| HP:0001899 | Increased hematocrit | Diagnostic criterion |
| HP:0001009 | Telangiectasia | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0004930 | Abnormality of the pulmonary vasculature | Diagnostic criterion |
| HP:0001541 | Ascites | |
| HP:0001028 | Hemangioma | |
| HP:0011920 | Transudative pleural effusion | |
| Frequent (79-30%) | ||
| HP:0002170 | Intracranial hemorrhage | |
| HP:0001901 | Polycythemia | |
| HP:0004936 | Venous thrombosis | |
| Occasional (29-5%) | ||
| HP:0001041 | Facial erythema | |
| HP:0002315 | Headache | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 25143825[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284227
- This record as JSON: /data/d/284227.json