Rare Gastroenterology News

Disease Profile

TEMPI syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Telangiectasia Erythrocytosis Monoclonal gammopathy Perinephric-fluid collections Intrapulmonary shunting

Summary

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).[1] 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.[2][3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Abnormality of the kidney
Abnormal kidney
0000077
Hypoxemia
Low blood oxygen level
0012418
Increased circulating IgG level
0003237
Increased hematocrit
0001899
Telangiectasia
0001009
80%-99% of people have these symptoms
Abnormality of the pulmonary vasculature
Abnormality of the lung blood vessels
0004930
Ascites
Accumulation of fluid in the abdomen
0001541
Hemangioma
Strawberry mark
0001028
Transudative pleural effusion
0011920
30%-79% of people have these symptoms
Intracranial hemorrhage
Bleeding within the skull
0002170
Polycythemia
Increased red blood cells
0001901
Venous thrombosis
Blood clot in vein
0004936
5%-29% of people have these symptoms
Facial erythema
Blushed cheeks
Blushing
Red face
Red in the face

[ more ]

0001041
Headache
Headaches
0002315

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss TEMPI syndrome. Click on the link to view a sample search on this topic.

References

  1. Sykes DB, Schroyens W, O'Connell C. The TEMPI syndrome--a novel multisystem disease. New England Journal of Medicine. August 3, 2011; 365(5):475-477. https://www.nejm.org/doi/full/10.1056/NEJMc1106670. Accessed 10/23/2012.
  2. Kwok M, Korde N, Landgren O. Bortezomib to Treat the TEMPI Syndrome. New England Journal of Medicine. May 10, 2012; 366(19):1843-1845. https://www.nejm.org/doi/full/10.1056/NEJMc1202649. Accessed 10/23/2012.
  3. Schroyens W, O'Connell C, Sykes DB. Complete and Partial Responses of the TEMPI Syndrome to Bortezomib. New England Journal of Medicine. August 23, 2012; 367(8):778-780. https://www.nejm.org/doi/full/10.1056/NEJMc1205806. Accessed 10/23/2012.