ORPHA:809
Mixed connective tissue disease
Synonyms: MCTD · Sharp syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) and/or rheumatoid arthritis (RA).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mixed connective tissue disease | MCTD · Sharp syndrome |
| fr | Connectivite mixte | Syndrome de Sharp |
| de | Mischkollagenose | MCTD · Sharp-Syndrom |
| es | Enfermedad mixta del tejido conectivo | Síndrome de Sharp |
| it | Connettivite mista | Sindrome di Sharp |
| nl | Gemengde bindweefselziekte | MCTD · Syndroom van Sharp |
| pt | Doença mista do tecido conjuntivo | Síndrome Sharp |
| pl | Mieszana choroba tkanki łącznej | MCTD · Zespół Sharpa |
| cs | Smíšené nemoci pojivové tkáně | MCTD · Sharpův syndrom |
| uk | Змішане захворювання сполучної тканини | MCTD · Гострий синдром |
| zh | 混合性结缔组织病 | Sharp综合征 |
| tr | Karma bağ dokusu hastalığı | MCTD · Sharp sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M35.1 | NTBT | inclusion | validated |
| ICD-11 | 4A43.3 | E | specific | validated |
| MONDO | 0005854 | E | validated | |
| MeSH | D008947 | E | validated | |
| UMLS | C0026272 | E | validated | |
| GARD | 7051 | E | validated | |
| MedDRA | 10027754 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:567558Non-genetic systemic disease with glomerulopathy as a major feature
rare renal diseases; rare transplant-related disorders - ORPHA:251312Overlapping connective tissue disease
rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood - ORPHA:182104Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
rare respiratory diseases; rare transplant-related disorders - ORPHA:209007Systemic inflammatory disease associated with an acquired peripheral neuropathy
rare neurological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.17 / 100 000 | Norway | Value and class | Validated | 21398332[PMID] |
| Point prevalence | 1-9 / 100 000 | 3 / 100 000 | Norway | Value and class | Validated | 21398332[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.7 / 100 000 | Japan | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Annual incidence | 1-9 / 100 000 | 1.9 / 100 000 | United States | Value and class | Validated | 26946215[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.8 / 100 000 | Finland | Value and class | Validated | 8810933[PMID]_26946215[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
68 annotations · validated 2024-06-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001369 | Arthritis | |
| HP:0002960 | Autoimmunity | |
| HP:0100749 | Chest pain | |
| HP:0002094 | Dyspnea | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0012378 | Fatigue | |
| HP:0005263 | Gastritis | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0003326 | Myalgia | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0100324 | Scleroderma | |
| HP:0000988 | Skin rash | |
| Frequent (79-30%) | ||
| HP:0034093 | Anti-Ro52/TRIM21 antibody positivity | |
| HP:0033028 | Anti-U1 ribonucleoprotein antibody positivity | Diagnostic criterion |
| HP:0034092 | Anti-cyclic citrullinated peptide antibody positivity | |
| HP:0020151 | Anti-dsDNA antibody positivity | |
| HP:0034076 | Anti-ribosome Po antibody positivity | |
| HP:0002829 | Arthralgia | |
| HP:0007514 | Edema of the dorsum of hands | |
| HP:0001945 | Fever | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0001386 | Joint swelling | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0100614 | Myositis | |
| HP:0002102 | Pleuritis | |
| HP:0000709 | Psychosis | |
| HP:0030880 | Raynaud phenomenon | Diagnostic criterion |
| HP:0002923 | Rheumatoid factor positive | |
| HP:0011838 | Sclerodactyly | |
| HP:0100661 | Trigeminal neuralgia | Diagnostic criterion |
| HP:0000217 | Xerostomia | |
| Occasional (29-5%) | ||
| HP:0003115 | Abnormal EKG | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0030878 | Abnormality on pulmonary function testing | |
| HP:0001596 | Alopecia | |
| HP:0012050 | Anasarca | |
| HP:0010885 | Avascular necrosis | |
| HP:0000716 | Depression | |
| HP:0012219 | Erythema nodosum | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002315 | Headache | |
| HP:0000365 | Hearing impairment | |
| HP:0001878 | Hemolytic anemia | |
| HP:0003075 | Hypoproteinemia | |
| HP:0031857 | Ineffective esophageal peristalsis | |
| HP:0001387 | Joint stiffness | |
| HP:0001882 | Leukopenia | |
| HP:0002716 | Lymphadenopathy | |
| HP:0033834 | Malaise | |
| HP:0025300 | Malar rash | |
| HP:0100721 | Mediastinal lymphadenopathy | |
| HP:0012578 | Membranous nephropathy | |
| HP:0012819 | Myocarditis | |
| HP:0000112 | Nephropathy | |
| HP:0033430 | Non-infectious meningitis | Diagnostic criterion |
| HP:0000155 | Oral ulcer | |
| HP:0002797 | Osteolysis | |
| HP:0001698 | Pericardial effusion | |
| HP:0001701 | Pericarditis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0003010 | Prolonged bleeding time | |
| HP:0000093 | Proteinuria | |
| HP:0002092 | Pulmonary arterial hypertension | Diagnostic criterion |
| HP:0000979 | Purpura | |
| HP:0001250 | Seizure | |
| HP:0001744 | Splenomegaly | |
| HP:0001009 | Telangiectasia | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 31194355[PMID]_37525698[PMID]_32130548[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/809
- This record as JSON: /data/d/809.json