Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: GPI DEFICIENCY
PIGM-CDG
Number of Symptoms 15
OrphanetNr: 83639
OMIM Id: 610293
ICD-10: E88.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with epilepsy as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
 -Rare genetic disease
Rare thrombotic disorder due to a constitutional coagulation factors defect
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002121) Absence seizures 62 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0011147) Typical absence seizures 33 / 7739
4
 (HPO:0010819) Atonic seizures 18 / 7739
5
 (HPO:0001409) Portal hypertension 39 / 7739
6
 (HPO:0002240) Hepatomegaly 467 / 7739
7
 (HPO:0001744) Splenomegaly 337 / 7739
8
 (HPO:0004936) Venous thrombosis 41 / 7739
9
 (MedDRA:10036206) Portal vein thrombosis 1 / 7739
10
 (HPO:0030242) Portal vein thrombosis 2 / 7739
11
 (OMIM) No hemolysis 2 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (OMIM) Decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., CD59 107271 and CD24 600274) on hematopoietic cells 1 / 7739
14
 (OMIM) Hepatic venous thrombosis 1 / 7739
15
 (OMIM) No bone marrow abnormalities 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Almeida et al. (2006) reported 3 affected children from 2 unrelated consanguineous families, of Middle Eastern and Turkish origin, respectively, with a newly described inherited deficiency of GPI. The probands from each family developed portal vein thrombosis and ...
Molecular genetics OMIM Almeida et al. (2006) identified a homozygous mutation in the promoter region of the PIGM gene (610273.0001) in 3 patients from 2 unrelated consanguineous families with glycosylphosphatidylinositol deficiency. The findings confirmed that the disorder is caused by a ...