Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
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 April 2024
Newly diagnosed with
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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
Clinical Trials
For a list of clinical trials in this disease area, please click here.