Rare Endocrinology News
Disease Profile
PGM3-CDG
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.
#N/A
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Orpha Number: 443811
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.
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 |
0005407 | |
Recurrent skin infections |
Skin infections, recurrent
|
0001581 |
30%-79% of people have these symptoms | ||
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 | |
IQ between 34 and 49
|
0002342 | |
Moderate global |
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 | |
Difficulty articulating speech
|
0001260 | |
Eosinophilia |
High blood eosinophil count
|
0001880 |
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 |
0001904 | |
Recurrent fungal infections | 0002841 | |
Reduced natural killer cell count | 0040218 | |
Severe combined |
0004430 | |
Skin ulcer |
Open skin sore
|
0200042 |
1%-4% of people have these symptoms | ||
Abnormal |
0011400 | |
Abscess | 0025615 | |
Aortic root aneurysm |
Bulge in wall of root of large artery that carries blood away from heart
|
0002616 |
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 | |