Orphanet: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

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Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Disease definition

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.

ORPHA:83639

Classification level: Disorder

Synonym(s):
- Congenital disorder of glycosylation due to PIGM deficiency
- PIGM-CDG
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: E88.8
ICD-11: 3B61.0Y
OMIM: 610293
UMLS: C4510605
MeSH: -
GARD: 9965
MedDRA: -

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Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

ORPHA:83639

A summary on this disease is available in Italiano (2006) Español (2020) Français (2020) Nederlands (2020)

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