Rare Pediatrics News

Disease Profile

PGM3-CDG

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Phosphoglucomutase 3 deficiency; CID due to PGM3 deficiency; PGM3-related congenital disorder of glycosylation;

Categories

Congenital and Genetic Diseases; Immune System Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 443811

Definition
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.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

    Rare Pediatrics News

    Medical Terms Other Names
    Learn More:
    HPO ID
    80%-99% of people have these symptoms
    Cutaneous abscess
    Skin abscess
    0031292
    Decreased proportion of CD4-positive helper T cells
    0005407
    Recurrent skin infections
    Skin infections, recurrent
    0001581
    30%-79% of people have these symptoms
    Ataxia
    0001251
    Atopic dermatitis
    0001047
    Chronic otitis media
    Chronic infections of the middle ear
    0000389
    Decreased proportion of CD3-positive T cells
    0045080
    Failure to thrive
    Faltering weight
    Weight faltering

    [ more ]

    0001508
    Increased circulating IgE level
    0003212
    Increased circulating IgG level
    0003237
    Intellectual disability, moderate
    IQ between 34 and 49
    0002342
    Moderate global developmental delay
    0011343
    Recurrent bacterial infections
    Bacterial infections, recurrent
    Frequent bacterial infections
    Increased susceptibility to bacterial infections
    Recurrent major bacterial infections

    [ more ]

    0002718
    Recurrent pneumonia
    0006532
    Recurrent viral infections
    0004429
    Reduced antigen-specific T cell proliferation
    0031402
    Rheumatoid factor positive
    0002923
    Sepsis
    Infection in blood stream
    0100806
    Vasculitis in the skin
    0200029
    5%-29% of people have these symptoms
    Abnormal CD4:CD8 ratio
    0031394
    Abnormal facial shape
    Unusual facial appearance
    0001999
    Abnormal proportion of CD8-positive T cells
    0031393
    Allergic rhinitis
    Hay fever
    Hayfever

    [ more ]

    0003193
    Asthma
    0002099
    Bone marrow hypocellularity
    Bone marrow failure
    0005528
    Bronchiectasis
    Permanent enlargement of the airways of the lungs
    0002110
    Chronic sinusitis
    0011109
    Conductive hearing impairment
    Conductive deafness
    Conductive hearing loss

    [ more ]

    0000405
    Cortical myoclonus
    0040148
    Decreased/absent ankle reflexes
    0200101
    Dysarthria
    Difficulty articulating speech
    0001260
    Eosinophilia
    High blood eosinophil count
    0001880
    Hemolytic anemia
    0001878
    High palate
    Elevated palate
    Increased palatal height

    [ more ]

    0000218
    Hyperactive patellar reflex
    Overactive knee reflex
    0007083
    Increased circulating IgA level
    0003261
    Lactose intolerance
    Milk intolerance
    0004789
    Lymphoma
    Cancer of lymphatic system
    0002665
    Membranoproliferative glomerulonephritis
    0000793
    Mild neurosensory hearing impairment
    0008587
    Narrow palpebral fissure
    Small opening between the eyelids
    0045025
    Neutropenia in presence of anti-neutropil antibodies
    0001904
    Recurrent fungal infections
    0002841
    Reduced natural killer cell count
    0040218
    Severe combined immunodeficiency
    0004430
    Skin ulcer
    Open skin sore
    0200042
    1%-4% of people have these symptoms
    Abnormal CNS myelination
    0011400
    Abscess
    0025615
    Aortic root aneurysm
    Bulge in wall of root of large artery that carries blood away from heart
    0002616
    Brachydactyly
    Short fingers or toes
    0001156
    Chronic mucocutaneous candidiasis
    0002728
    Drug allergy
    0410323
    Eczema
    0000964
    Erythema
    0010783
    Esophageal stricture
    Narrowing of esophagus due to inflammation and scar tissue
    0002043
    Esophagitis
    Inflammation of the esophagus
    0100633
    Food allergy
    0500093
    Gastroesophageal reflux
    Acid reflux
    Acid reflux disease
    Heartburn

    [ more ]

    0002020
    Global developmental delay
    0001263
    Hodgkin lymphoma
    0012189
    Increased circulating IgM level
    0003496
    Intellectual disability
    Mental deficiency
    Mental retardation
    Mental retardation, nonspecific
    Mental-retardation

    [ more ]

    0001249
    Joint hypermobility
    Double-Jointed
    Flexible joints
    Increased mobility of joints

    [ more ]

    0001382
    Lymphopenia
    Decreased blood lymphocyte number
    Low lymphocyte number

    [ more ]

    0001888
    Molluscum contagiosum
    0032163