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

Orpha code: 217467OMIM code: 613116

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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