mixed connective tissue disease
MeSH: D008947ORPHA: 809
Overview
collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with mixed connective tissue disease, sourced from HPO and Orphanet clinical annotations.
FeverPleuritisArthralgiaRheumatoid factor positiveEdema of the dorsum of handsIncreased circulating immunoglobulin concentrationSclerodactylyAnti-dsDNA antibody positivityRaynaud phenomenonAnti-U1 ribonucleoprotein antibody positivityAnti-ribosome Po antibody positivityAnti-cyclic citrullinated peptide antibody positivityAnti-Ro52/TRIM21 antibody positivityMyositisTrigeminal neuralgiaProteinuriaSkin rashArthritisGastroesophageal refluxDyspneaPulmonary fibrosisAutoimmunityMyalgiaElevated erythrocyte sedimentation rateGastritisFatigueSclerodermaChest painXerostomiaPsychosisKeratoconjunctivitis siccaJoint swellingNephropathyOral ulcerHearing impairmentDepressionPurpuraTelangiectasiaSeizureJoint stiffnessAlopeciaPericardial effusionPericarditisSplenomegalyThrombocytopeniaHemolytic anemiaDecreased total leukocyte countPulmonary arterial hypertensionGastrointestinal hemorrhageHeadacheLymphadenopathyOsteolysisProlonged bleeding timeHypoproteinemiaAbnormal EKGAbnormal pulmonary interstitial morphologyPeripheral neuropathyAvascular necrosisAnasarcaErythema nodosumMembranous nephropathyMyocarditisMalar rashAbnormality on pulmonary function testingIneffective esophageal peristalsisNon-infectious meningitisMalaiseMediastinal lymphadenopathy
Classification & Codes
MeSH Code
D008947Orphanet Code
ORPHA:809mixed connective tissue disease
| MeSH | D008947 |
| Orphanet | ORPHA:809 |
| Treatments | 0 drug(s) |
| Symptoms on record | 68 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO