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

Orpha code: 217467OMIM code: 613116

Definition

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.

Disease data
Classification

Disease

Synonyms
Hereditary thrombophilia due to congenital HRG deficiency
Dziedziczna trombofilia z powodu wrodzonego niedoboru HRG
ORPHA code
217467
OMIM code
613116
ICD10 code
D68.5
ICD11 code
3B61.0Y

No additional description.

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