Phenotypes associated with the disease Neonatal lupus erythematosus (ORPHA:398124, an Orphanet rare-disease identifier):
- Autoimmune antibody positivity (HP:0030057, a Human Phenotype Ontology term): The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:398124)
- Abnormality of the skin (HP:0000951, a Human Phenotype Ontology term): An abnormality of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:398124)
- Abnormality of the liver (HP:0001392, a Human Phenotype Ontology term): An abnormality of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:398124)
- Abnormality of blood and blood-forming tissues (HP:0001871, a Human Phenotype Ontology term): An abnormality of the hematopoietic system. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:398124)
- Hydrocephalus (HP:0000238, a Human Phenotype Ontology term): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Hyperkeratosis (HP:0000962, a Human Phenotype Ontology term): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Skin rash (HP:0000988, a Human Phenotype Ontology term): A red eruption of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Cutaneous photosensitivity (HP:0000992, a Human Phenotype Ontology term): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Parakeratosis (HP:0001036, a Human Phenotype Ontology term): Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Dilated cardiomyopathy (HP:0001644, a Human Phenotype Ontology term): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Atrioventricular block (HP:0001678, a Human Phenotype Ontology term): Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Thrombocytopenia (HP:0001873, a Human Phenotype Ontology term): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Decreased total neutrophil count (HP:0001875, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:398124)
- Anemia (HP:0001903, a Human Phenotype Ontology term): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Abnormal cerebral white matter morphology (HP:0002500, a Human Phenotype Ontology term): An abnormality of the cerebral white matter. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Elevated circulating hepatic transaminase concentration (HP:0002910, a Human Phenotype Ontology term): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Arrhythmia (HP:0011675, a Human Phenotype Ontology term): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Heart block (HP:0012722, a Human Phenotype Ontology term): Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Malar rash (HP:0025300, a Human Phenotype Ontology term): An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Erythematous plaque (HP:0025474, a Human Phenotype Ontology term): A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Maculopapular exanthema (HP:0040186, a Human Phenotype Ontology term): A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:398124)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:398124)
- Hepatic failure (HP:0001399, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:398124)
- Abnormal heart morphology (HP:0001627, a Human Phenotype Ontology term): Any structural anomaly of the heart. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:398124)
- Prolonged QT interval (HP:0001657, a Human Phenotype Ontology term): Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:398124)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:398124)
- Pancytopenia (HP:0001876, a Human Phenotype Ontology term): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:398124)
- Hemolytic anemia (HP:0001878, a Human Phenotype Ontology term): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:398124)
- Abnormal bleeding (HP:0001892, a Human Phenotype Ontology term): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:398124)
- Aplastic anemia (HP:0001915, a Human Phenotype Ontology term): Aplastic anemia is defined as pancytopenia with a hypocellular marrow. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:398124)
- Abnormality of the respiratory system (HP:0002086, a Human Phenotype Ontology term): An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:398124)
- Basal ganglia calcification (HP:0002135, a Human Phenotype Ontology term): The presence of calcium deposition affecting one or more structures of the basal ganglia. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:398124)
- Skeletal dysplasia (HP:0002652, a Human Phenotype Ontology term): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:398124)
- Abnormal electrophysiology of sinoatrial node origin (HP:0011702, a Human Phenotype Ontology term): An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:398124)
Not associated with this disease:
- Cholestasis (HP:0001396, a Human Phenotype Ontology term): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. (ORPHA:398124)