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GTR Home > Conditions/Phenotypes > Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

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

Synonyms
THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; Thrombophilia, histidine-rich glycoprotein-related
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is 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. [from ORDO]

Available tests

10 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HPRG, HRGP, THPH11, HRG
    Summary: histidine rich glycoprotein

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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