PGM3 gene related symptoms and diseases

All the information presented here about the PGM3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PGM3 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Vasculitis Very Common - Between 80% and 100% cases
Hemolytic anemia Very Common - Between 80% and 100% cases
Neutropenia Very Common - Between 80% and 100% cases
Asthma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PGM3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Sensory impairment
  • Lymphoma
  • Eczema
  • Inflammatory abnormality of the skin
  • Bronchiectasis
  • Lymphopenia
  • Narrow palpebral fissure
  • Respiratory tract infection

And 36 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PGM3 gene

Here you will find a list of rare diseases related to the PGM3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PGM3-CDG


Alternate names

PGM3-CDG Is also known as cid due to pgm3 deficiency, immunodeficiency with hyper ige and cognitive impairment, pgm3-related congenital disorder of glycosylation, combined immunodeficiency due to pgm3 deficiency, immunodeficiency-vasculitis-myoclonus syndrome, ivms

Description

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

Most common symptoms of PGM3-CDG

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about PGM3-CDG

SOURCES: OMIM ORPHANET


Potential gene panels for PGM3 gene

PGM3 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the PGM3 gene.

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Hyper IgE Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hyper IgE Syndrome Sequencing Panel with CNV Detection that also includes the following genes: STAT3 TYK2 SPINK5 DOCK8 PGM3

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Invitae Congenital Disorders of Glycosylation Panel Panel

United States.

By Invitae Invitae Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 TRIP11 COG5 ALG9 NGLY1 ALG1 ATP6V0A2

More info about this panel

Invitae Hyper IgE Syndrome Panel Panel

United States.

By Invitae Invitae Hyper IgE Syndrome Panel that also includes the following genes: STAT3 SPINK5 DOCK8 PGM3

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT

More info about this panel

PGM3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PGM3 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Congenital Neutropenia Panel Panel

Finland.

By Blueprint Genetics Congenital Neutropenia Panel that also includes the following genes: SMARCD2 SRP72 WAS WDR1 ACTB MRTFA VPS45 HAX1 SBDS LYST

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

HYPER IgE SYNDROME (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPER IgE SYNDROME (AUTOSOMAL RECESSIVE) that also includes the following genes: TYK2 DOCK8 PGM3

More info about this panel


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