Phenotypes associated with the disease PGM3-CDG (ORPHA:443811):
- Decreased total T cell count (HP:0005403): Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Moderate global developmental delay (HP:0011343): A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Decreased antigen-specific T cell proliferation (HP:0031402): Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Decreased total T cell count (HP:0005403): Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Vasculitis in the skin (HP:0200029): A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Membranoproliferative glomerulonephritis (HP:0000793): A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Autoimmune neutropenia (HP:0001904): Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, accompanied by the detection of anti-neutrophil antibodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Recurrent fungal infections (HP:0002841): Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Allergic rhinitis (HP:0003193): It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Severe combined immunodeficiency (HP:0004430): A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Lactose intolerance (HP:0004789): An inability to digest lactose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Hyperactive patellar reflex (HP:0007083). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Mild neurosensory hearing impairment (HP:0008587): The presence of a mild form of sensorineural hearing impairment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Chronic sinusitis (HP:0011109): A chronic form of sinusitis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Abnormal total CD8+ T cell number (HP:0031393): Abnormal increase or decrease of the absolute number of cytotoxic CD3+CD8+ T cells (measured the absolute count per volume or as percentage of total CD3+ T cells in the blood), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Abnormal CD4:CD8 ratio (HP:0031394): Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Cortical myoclonus (HP:0040148): Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Reduced total natural killer cell count (HP:0040218): The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Narrow palpebral fissure (HP:0045025): Reduction in the vertical distance between the upper and lower eyelids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Decreased/absent ankle reflexes (HP:0200101). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:443811)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:443811)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:443811)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:443811)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:443811)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:443811)
- Esophagitis (HP:0100633): Inflammation of the esophagus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:443811)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:443811)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:443811)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:443811)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:443811)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:443811)
- Cutaneous abscess (HP:0031292): A circumscribed area of pus or necrotic debris in the skin (within the epidermis or dermis). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:443811)
- Decreased total CD4+ T cell proportion (HP:0032218): Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:443811)
- Chronic otitis media (HP:0000389): Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Atopic dermatitis (HP:0001047): Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)
- Recurrent viral infections (HP:0004429): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:443811)