Macrocephaly
|
0.010 |
Biomarker
|
disease |
BEFREE |
The patients described herein expand the phenotypic spectrum of PIGM deficiency to include macrocephaly and infantile-onset cerebrovascular thrombotic events.
|
31445883 |
2020 |
Atypical absence seizure
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.
|
31445883 |
2020 |
Intravascular hemolysis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
These findings explain intact PIGM transcription in IGD erythroid cells and the lack of clinically significant intravascular hemolysis in patients with IGD.
|
25293775 |
2014 |
Epilepsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Disrupted binding of the transcription factor Sp1 to the mutated promoter region of the mannosyl transferase-encoding gene PIGM causes inherited glycosylphosphatidylinositol (GPI) deficiency characterized by splanchnic vein thrombosis and epilepsy.
|
17442906 |
2007 |
Splanchnic vein thrombosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Disrupted binding of the transcription factor Sp1 to the mutated promoter region of the mannosyl transferase-encoding gene PIGM causes inherited glycosylphosphatidylinositol (GPI) deficiency characterized by splanchnic vein thrombosis and epilepsy.
|
17442906 |
2007 |
Paroxysmal nocturnal hemoglobinuria
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
These syndromes include congenital PNH (such as inherited complete CD59 deficiency and PNH with PIG-M mutations), because complement-mediated hemolysis and thrombosis are observed in association with defects of various factors associated with the complement regulatory pathway, including biosynthesis of the glycosylphosphatidylinositol (GPI) anchor.
|
16926129 |
2006 |
CD59 Deficiency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
These syndromes include congenital PNH (such as inherited complete CD59 deficiency and PNH with PIG-M mutations), because complement-mediated hemolysis and thrombosis are observed in association with defects of various factors associated with the complement regulatory pathway, including biosynthesis of the glycosylphosphatidylinositol (GPI) anchor.
|
16926129 |
2006 |
Hepatic Vein Thrombosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hepatomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Portal Hypertension
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Splenomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Reduced granulocyte CD59 level
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Portal Vein Thrombosis, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Portal Vein Thrombosis
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the promoter of PIGM, resulting in a syndrome with portal vein thrombosis and persistent absence seizures, was previously described in three patients.
|
31445883 |
2020 |
Portal Vein Thrombosis
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency.
|
25293775 |
2014 |
Jacksonian Seizure
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
|
16767100 |
2006 |
Deep Vein Thrombosis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
|
16767100 |
2006 |
Complex partial seizures
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
|
16767100 |
2006 |
Generalized seizures
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
|
16767100 |
2006 |
Clonic Seizures
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
|
16767100 |
2006 |
Visual seizure
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
|
16767100 |
2006 |
Tonic Seizures
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
|
16767100 |
2006 |
Seizures, Somatosensory
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
|
16767100 |
2006 |
Seizures, Auditory
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
|
16767100 |
2006 |