Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Orpha code: 83639OMIM code: 610293

Definicja

A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.

Disease data
Klasyfikacja

Disease

Synonimy
Congenital disorder of glycosylation due to PIGM deficiency
PIGM-CDG
PIGM-CDG
Kod ORPHA
83639
Kod OMIM
610293
Kod ICD10
E88.8
Kod ICD11
-

No additional description.

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