PIGM gene related symptoms and diseases
All the information presented here about the PIGM gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PIGM gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Seizures | Very Common - Between 80% and 100% cases |
Abnormal facial shape | Very Common - Between 80% and 100% cases |
Hypertension | Very Common - Between 80% and 100% cases |
Hepatomegaly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PIGM gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Splenomegaly
- Bone marrow hypocellularity
- Absence seizures
- Venous thrombosis
- Portal hypertension
- Atonic seizures
- Hemoglobinuria
- Portal vein thrombosis
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PIGM gene
Here you will find a list of rare diseases related to the PIGM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
Alternate names
HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY Is also known as pigm-cdg, congenital disorder of glycosylation due to pigm deficiency, glycosylphosphatidylinositol biosynthesis defect 1, gpibd1
Description
The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.
Most common symptoms of HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
- Intellectual disability
- Seizures
- Abnormal facial shape
- Hypertension
- Hepatomegaly
More info about HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
Search interest in PIGM
Potential gene panels for PIGM gene
Congenital Disorders of Glycosylation: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panelCongenital Disorders of Glycosylation: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panelPIGM Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PIGM gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like JAK2 ANKK1 GABBR2 MED17 COQ2 ASTN2 ELANE