miércoles, 27 de agosto de 2014

Stormorken syndrome - Genetics Home Reference

Stormorken syndrome - Genetics Home Reference

Bleeding Disorders Update

New on the MedlinePlus Bleeding Disorders page:
08/26/2014 11:30 PM EDT

Source: National Library of Medicine - NIH
Genetics Home Reference: your guide to understanding genetic conditions

Stormorken syndrome

Reviewed August 2014

What is Stormorken syndrome?

Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cells called platelets. Platelets are involved in normal blood clotting; a shortage of platelets typically results in easy bruising and abnormal bleeding. In addition, affected individuals often have a muscle disorder, called tubular aggregate myopathy, that leads to muscle weakness. Another feature of Stormorken syndrome is permanent constriction of the pupils of the eyes (miosis), which may be caused by abnormalities in the muscles that control the size of the pupils. Other features include lack of a functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulty with reading and spelling (dyslexia).

How common is Stormorken syndrome?

Stormorken syndrome is a rare disorder. Approximately a dozen cases have been reported in the medical literature.

What genes are related to Stormorken syndrome?

Stormorken syndrome is caused by a mutation in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell through special channels in the cell membrane called calcium-release activated calcium (CRAC) channels. The flow of calcium ions through CRAC channels triggers signaling within cells that helps control gene activity, cell growth and division, and immune function.
The STIM1 gene mutation involved in Stormorken syndrome leads to production of a STIM1 protein that is constantly turned on (constitutively active), which means it continually stimulates calcium ion entry through CRAC channels regardless of ion levels. Researchers suggest that the abnormal ion flow in platelets causes the cells to die earlier than usual, leading to thrombocytopenia and bleeding problems in people with Stormorken syndrome. It is unknown how constitutively active STIM1 leads to the other features of the disorder.
Read more about the STIM1 gene.

How do people inherit Stormorken syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of Stormorken syndrome?

These resources address the diagnosis or management of Stormorken syndrome and may include treatment providers.
You might also find information on the diagnosis or management of Stormorken syndrome in Educational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about Stormorken syndrome?

You may find the following resources about Stormorken syndrome helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Stormorken syndrome?

  • Stormorken-Sjaastad-Langslet syndrome
  • thrombocytopathy, asplenia, and miosis
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about Stormorken syndrome?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding Stormorken syndrome?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (7 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

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