Mixed connective tissue disease

General Information (adopted from Orphanet):

Synonyms, Signs: MCTD
Sharp syndrome
Number of Symptoms 41
OrphanetNr: 809
OMIM Id:
ICD-10: M35.1
UMLs: C0026272
MeSH: D008947
MedDRA: 10027754
Snomed: 398021003

Prevalence, inheritance and age of onset:

Prevalence: 3.8 of 100 000 [Orphanet]
Inheritance: Multifactorial
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Overlapping connective tissue disease
 -Rare systemic or rheumatologic disease
Secondary glomerular disease
 -Rare renal disease
Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
 -Rare respiratory disease
Systemic inflammatory disease associated with an acquired peripheral neuropathy
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
2
 (HPO:0000217) Xerostomia Frequent [Orphanet] 35 / 7739
3
 (HPO:0001097) Keratoconjunctivitis sicca Frequent [Orphanet] 25 / 7739
4
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
5
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
6
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
7
 (HPO:0001287) Meningitis Occasional [Orphanet] 46 / 7739
8
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
9
 (HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
10
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
11
 (HPO:0010885) Aseptic necrosis Occasional [Orphanet] 24 / 7739
12
 (HPO:0100769) Synovitis Very frequent [Orphanet] 86 / 7739
13
 (HPO:0100749) Chest pain Very frequent [Orphanet] 92 / 7739
14
 (HPO:0100550) Tendon rupture Occasional [Orphanet] 17 / 7739
15
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
16
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
17
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
18
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
19
 (HPO:0002592) Gastric ulcer Very frequent [Orphanet] 39 / 7739
20
 (HPO:0000987) Atypical scarring of skin Very frequent [Orphanet] 58 / 7739
21
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
22
 (HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
23
 (HPO:0001063) Acrocyanosis Very frequent [Orphanet] 56 / 7739
24
 (HPO:0001933) Subcutaneous hemorrhage Occasional [Orphanet] 50 / 7739
25
 (HPO:0001637) Abnormality of the myocardium Occasional [Orphanet] 76 / 7739
26
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
27
 (HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
28
 (HPO:0001878) Hemolytic anemia Occasional [Orphanet] 83 / 7739
29
 (HPO:0001882) Leukopenia Occasional [Orphanet] 51 / 7739
30
 (HPO:0003010) Prolonged bleeding time Occasional [Orphanet] 88 / 7739
31
 (HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
32
 (HPO:0011227) Elevated C-reactive protein level Very frequent [Orphanet] 55 / 7739
33
 (HPO:0002206) Pulmonary fibrosis Very frequent [Orphanet] 51 / 7739
34
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
35
 (HPO:0002103) Abnormality of the pleura Frequent [Orphanet] 58 / 7739
36
 (HPO:0100721) Mediastinal lymphadenopathy Occasional [Orphanet] 19 / 7739
37
 (HPO:0002960) Autoimmunity Very frequent [Orphanet] 78 / 7739
38
 (HPO:0002716) Lymphadenopathy Occasional [Orphanet] 129 / 7739
39
 (HPO:0003326) Myalgia Very frequent [Orphanet] 143 / 7739
40
 (HPO:0100614) Myositis Frequent [Orphanet] 21 / 7739
41
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: