The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of temperature regulation||90%|
|Abnormality of the heart valves||90%|
|Abnormality of the pericardium||90%|
|Abnormal pyramidal signs||50%|
|Abnormal tendon morphology||50%|
|Abnormality of the autonomic nervous system||50%|
|Abnormality of the endocardium||50%|
|Abnormality of the pleura||50%|
|Bone marrow hypocellularity||50%|
|Cranial nerve paralysis||50%|
|Edema of the lower limbs||50%|
|Increased antibody level in blood||50%|
|Increased intracranial pressure||50%|
|Recurrent respiratory infections||50%|
|Abnormal blistering of the skin||7.5%|
|Abnormality of eosinophils||7.5%|
|Abnormality of the myocardium||7.5%|
|Coronary artery disease||7.5%|
|Feeding difficulties in infancy||7.5%|
|Inflammation of the large intestine||7.5%|
|Nausea and vomiting||7.5%|
|Restrictive ventilatory defect||7.5%|
|Telangiectasia of the skin||7.5%|
|Antinuclear antibody positivity||-|
|Antiphospholipid antibody positivity||-|
|Autosomal dominant inheritance||-|
|Systemic lupus erythematosus||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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Is mixed connective tissue disorder more common in any ethnic population? See answer
Hello, My daughter was diagnosed with lupus two years ago when she broke out in a malar rash on her face. Other than her skin, she has no organ damage. She was recently found to have a C2 deficiency which explains a lot. She has recurrent infections, but not serious ones, and is sick very often. Her rheumatologist decided not to start her on Plaquenil (hydroxychloroquine). My question is - is there anything I can do to keep her lupus or other autoimmune disease from progressing? Are there any advances being made in complement deficiencies? I know I am so lucky, she is doing well, but she is so little I just want to make sure I am doing everything I can to keep her healthy. See answer