Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

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Synonyms: Hereditary thrombophilia due to congenital HRG deficiency

A rare genetic coagulation disorder characterized by a tendency to develop thrombosis resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis but may include headaches diplopia progressive pain limb swelling itching or ulceration and brownish skin discoloration among others.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency?

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Advocacy Organizations

Youth And Women for Opportunities Uganda-YWOU

Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices

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Clinical Trials

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