High molecular weight kininogen deficiency

From WikiMD's Medical Encyclopedia

Revision as of 14:34, 2 March 2024 by Prab (talk | contribs) (CSV import)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)

High Molecular Weight Kininogen Deficiency (HMWKD) is a rare blood disorder characterized by a deficiency of the protein known as high molecular weight kininogen (HMWK). This protein plays a crucial role in the blood coagulation process and its deficiency can lead to abnormal bleeding.

Overview[edit]

High molecular weight kininogen (HMWK) is a protein that is part of the kinin-kallikrein system, which is involved in blood coagulation, inflammation, and blood pressure regulation. HMWK is produced in the liver and circulates in the bloodstream. It is a precursor to bradykinin, a potent vasodilator.

Causes[edit]

High Molecular Weight Kininogen Deficiency is an autosomal recessive disorder, which means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the disorder. The condition is caused by mutations in the KNG1 gene, which provides instructions for making HMWK.

Symptoms[edit]

The primary symptom of HMWKD is a prolonged bleeding time, which can lead to excessive bleeding after injury or surgery. Other symptoms may include easy bruising, nosebleeds, and heavy menstrual periods in women.

Diagnosis[edit]

Diagnosis of HMWKD is based on laboratory tests that measure the levels of HMWK in the blood. These tests include coagulation tests such as the activated partial thromboplastin time (aPTT) test, which is prolonged in individuals with HMWKD.

Treatment[edit]

There is currently no specific treatment for HMWKD. Management of the disorder primarily involves preventing and treating bleeding episodes. This may include the use of antifibrinolytic drugs to prevent bleeding, and blood transfusions to replace lost blood.

See also[edit]



Blood disorders
General
Anemias
Clotting disorders
Myeloproliferative disorders
Related articles
This blood disorders related article is a stub.



Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
(2) Zinc finger
DNA-binding domains
(3) Helix-turn-helix domains
3.1
3.2
3.3
3.5
(4) β-Scaffold factors
with minor groove contacts
(0) Other transcription factors


NIH genetic and rare disease info[edit]

High molecular weight kininogen deficiency is a rare disease.

Rare and genetic diseases

Rare diseases - High molecular weight kininogen deficiency

A-Z list of rare diseases
* 0-9 | A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Also see
Resources


This article is a medical stub. You can help WikiMD by expanding it!
PubMed
Wikipedia
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes


Ad. Transform your life with W8MD's

GLP-1 weight loss injections special from $29.99 with insurance

Advertise on WikiMD

WikiMD Medical Encyclopedia

Medical Disclaimer: WikiMD is for informational purposes only and is not a substitute for professional medical advice. Content may be inaccurate or outdated and should not be used for diagnosis or treatment. Always consult your healthcare provider for medical decisions. Verify information with trusted sources such as CDC.gov and NIH.gov. By using this site, you agree that WikiMD is not liable for any outcomes related to its content. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.

Retrieved from "https://wikimd.org/index.php?title=High_molecular_weight_kininogen_deficiency&oldid=5343072"