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.

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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

SOURCES: OMIM ORPHANET


Potential gene panels for PIGM gene

Congenital Disorders of Glycosylation: Sequencing Panel Panel

United States.

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 panel

Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel

United States.

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 panel

PIGM Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PIGM gene.

More info about this panel


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