MCID: TMP008
MIFTS: 22

Tempi Syndrome

Categories: Blood diseases, Bone diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Tempi Syndrome

MalaCards integrated aliases for Tempi Syndrome:

Name: Tempi Syndrome 53 59 72
Telangiectasia-Erythrocytosis-Monoclonal Gammopathy-Perinephric-Fluid Collections-Intrapulmonary Shunting Syndrome 59
Telangiectasia - Erythrocytosis - Monoclonal Gammopathy - Perinephric-Fluid Collections - Intrapulmonary Shunting 53

Characteristics:

Orphanet epidemiological data:

59
tempi syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



External Ids:

UMLS via Orphanet 73 C3854394
Orphanet 59 ORPHA284227
UMLS 72 C3854394

Summaries for Tempi Syndrome

NIH Rare Diseases : 53 TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation). Signs and symptoms of TEMPI syndrome have appeared in mid-adulthood in all known affected individuals. The telangiectasias develop mostly on the face, trunk and arms. The intrapulmonary shunt causes hypoxia (not enough oxygen supply), which slowly progresses until the person needs continuous supplemental oxygen to support their breathing. Blood clots and bleeding in the brain have also been reported in some affected individuals. The cause of TEMPI syndrome is currently unknown. Treatment has reportedly been completely or partially successful with the medication bortezomib.

MalaCards based summary : Tempi Syndrome, also known as telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome, is related to polycythemia and rheumatoid arthritis. Affiliated tissues include kidney, brain and lung, and related phenotypes are abnormality of the kidney and hypoxemia

Wikipedia : 75 TEMPI Syndrome is an orphan disease where the person share five characteristics from which the acronym... more...

Related Diseases for Tempi Syndrome

Diseases related to Tempi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 polycythemia 10.2
2 rheumatoid arthritis 10.1
3 myeloma, multiple 10.1
4 polycythemia vera 10.1
5 telangiectasis 10.1
6 polyneuropathy 10.1
7 poems syndrome 10.1
8 iron metabolism disease 10.1
9 acquired polycythemia 10.1
10 smoldering myeloma 10.1
11 hypoxia 10.1
12 hematopoietic stem cell transplantation 10.1

Graphical network of the top 20 diseases related to Tempi Syndrome:



Diseases related to Tempi Syndrome

Symptoms & Phenotypes for Tempi Syndrome

Human phenotypes related to Tempi Syndrome:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the kidney 59 32 obligate (100%) Obligate (100%) HP:0000077
2 hypoxemia 59 32 obligate (100%) Obligate (100%) HP:0012418
3 telangiectasia 59 32 obligate (100%) Obligate (100%) HP:0001009
4 increased hematocrit 59 32 obligate (100%) Obligate (100%) HP:0001899
5 increased circulating igg level 32 obligate (100%) HP:0003237
6 ascites 59 32 hallmark (90%) Very frequent (99-80%) HP:0001541
7 hemangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001028
8 abnormality of the pulmonary vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004930
9 transudative pleural effusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011920
10 venous thrombosis 59 32 frequent (33%) Frequent (79-30%) HP:0004936
11 intracranial hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0002170
12 polycythemia 59 32 frequent (33%) Frequent (79-30%) HP:0001901
13 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
14 facial erythema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001041
15 increased igg level 59 Obligate (100%)

Drugs & Therapeutics for Tempi Syndrome

Search Clinical Trials , NIH Clinical Center for Tempi Syndrome

Genetic Tests for Tempi Syndrome

Anatomical Context for Tempi Syndrome

MalaCards organs/tissues related to Tempi Syndrome:

41
Kidney, Brain, Lung, Bone, Bone Marrow

Publications for Tempi Syndrome

Articles related to Tempi Syndrome:

(show all 15)
# Title Authors PMID Year
1
Relapsed multiple myeloma as TEMPI syndrome with good response to salvage lenalidomide and dexamethasone. 38
31338571 2019
2
TEMPI Syndrome: Erythrocytosis in Plasma Cell Dyscrasia. 38
30100329 2018
3
Complete Responses in the TEMPI Syndrome after Treatment with Daratumumab. 38
29874534 2018
4
Monoclonal gammopathy of cutaneous significance: review of a relevant concept. 38
27501129 2017
5
Coexistence of rheumatoid arthritis and TEMPI syndrome: New insight in microangiogenic-related diseases. 38
26639219 2016
6
Long-term complete clinical and hematological responses of the TEMPI syndrome after autologous stem cell transplantation. 38
26500143 2015
7
Difficulties in hematopoietic progenitor cell collection from a patient with TEMPI syndrome and severe iatrogenic iron deficiency. 38
25911963 2015
8
Bone marrow findings of the newly described TEMPI syndrome: when erythrocytosis and plasma cell dyscrasia coexist. 38
25216227 2015
9
Subcutaneous bortezomib for treatment of TEMPI syndrome. 38
25172534 2014
10
Case report: a 37-year-old male with telangiectasias, polycythemia vera, perinephric fluid collections, and intrapulmonary shunting. 38
25143825 2014
11
A new case of TEMPI syndrome. 38
26069800 2012
12
Complete and partial responses of the TEMPI syndrome to bortezomib. 38
22913703 2012
13
Bortezomib to treat the TEMPI syndrome. 38
22571216 2012
14
The role of hypoxia-inducible factor-1 alpha in TEMPI syndrome. 38
25984227 2011
15
The TEMPI syndrome--a novel multisystem disease. 38
21812700 2011

Variations for Tempi Syndrome

Expression for Tempi Syndrome

Search GEO for disease gene expression data for Tempi Syndrome.

Pathways for Tempi Syndrome

GO Terms for Tempi Syndrome

Sources for Tempi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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