MCID: TMP008
MIFTS: 23

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 54 60 74
Telangiectasia-Erythrocytosis-Monoclonal Gammopathy-Perinephric-Fluid Collections-Intrapulmonary Shunting Syndrome 60
Telangiectasia - Erythrocytosis - Monoclonal Gammopathy - Perinephric-Fluid Collections - Intrapulmonary Shunting 54

Characteristics:

Orphanet epidemiological data:

60
tempi syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



Summaries for Tempi Syndrome

NIH Rare Diseases : 54 TEMPI syndromeis 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 rheumatoid arthritis and arthritis. Affiliated tissues include kidney, brain and bone marrow, and related phenotypes are abnormality of the kidney and hypoxemia

Wikipedia : 77 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:

# Related Disease Score Top Affiliating Genes
1 rheumatoid arthritis 10.0
2 arthritis 10.0
3 iron metabolism disease 10.0
4 hypoxia 10.0

Symptoms & Phenotypes for Tempi Syndrome

Human phenotypes related to Tempi Syndrome:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the kidney 60 33 obligate (100%) Obligate (100%) HP:0000077
2 hypoxemia 60 33 obligate (100%) Obligate (100%) HP:0012418
3 telangiectasia 60 33 obligate (100%) Obligate (100%) HP:0001009
4 increased hematocrit 60 33 obligate (100%) Obligate (100%) HP:0001899
5 increased circulating igg level 33 obligate (100%) HP:0003237
6 ascites 60 33 hallmark (90%) Very frequent (99-80%) HP:0001541
7 hemangioma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001028
8 abnormality of the pulmonary vasculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004930
9 transudative pleural effusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011920
10 venous thrombosis 60 33 frequent (33%) Frequent (79-30%) HP:0004936
11 intracranial hemorrhage 60 33 frequent (33%) Frequent (79-30%) HP:0002170
12 polycythemia 60 33 frequent (33%) Frequent (79-30%) HP:0001901
13 headache 60 33 occasional (7.5%) Occasional (29-5%) HP:0002315
14 facial erythema 60 33 occasional (7.5%) Occasional (29-5%) HP:0001041
15 increased igg level 60 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:

42
Kidney, Brain, Bone Marrow

Publications for Tempi Syndrome

Articles related to Tempi Syndrome:

(show all 12)
# Title Authors Year
1
Complete Responses in the TEMPI Syndrome after Treatment with Daratumumab. ( 29874534 )
2018
2
TEMPI Syndrome: Erythrocytosis in Plasma Cell Dyscrasia. ( 30100329 )
2018
3
Coexistence of rheumatoid arthritis and TEMPI syndrome: New insight in microangiogenic-related diseases. ( 26639219 )
2016
4
Bone marrow findings of the newly described TEMPI syndrome: when erythrocytosis and plasma cell dyscrasia coexist. ( 25216227 )
2015
5
Difficulties in hematopoietic progenitor cell collection from a patient with TEMPI syndrome and severe iatrogenic iron deficiency. ( 25911963 )
2015
6
Long-term complete clinical and hematological responses of the TEMPI syndrome after autologous stem cell transplantation. ( 26500143 )
2015
7
Subcutaneous bortezomib for treatment of TEMPI syndrome. ( 25172534 )
2014
8
Bortezomib to treat the TEMPI syndrome. ( 22571216 )
2012
9
Complete and partial responses of the TEMPI syndrome to bortezomib. ( 22913703 )
2012
10
A new case of TEMPI syndrome. ( 26069800 )
2012
11
The TEMPI syndrome--a novel multisystem disease. ( 21812700 )
2011
12
The role of hypoxia-inducible factor-1 alpha in TEMPI syndrome. ( 25984227 )
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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