Systemic sclerosis
General Information (adopted from Orphanet):
Synonyms, Signs: |
SYSTEMIC SCLEROSIS, SUSCEPTIBILITY TO CREST SYNDROME, INCLUDED Systemic scleroderma |
Number of Symptoms | 37 |
OrphanetNr: | 90291 |
OMIM Id: |
181750
|
ICD-10: |
M34 |
UMLs: |
|
MeSH: |
|
MedDRA: |
10042953 |
Snomed: |
89155008 |
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Sporadic 10200811 [IBIS] |
Age of onset: |
Adult 20143182 [IBIS] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Non-familial restrictive cardiomyopathy
-Rare cardiac disease Rare pulmonary disease -Rare respiratory disease Scleroderma -Rare skin disease Secondary glomerular disease -Rare renal disease Systemic autoimmune disease -Rare systemic or rheumatologic disease |
Symptom Information:
|
(HPO:0006530) | Interstitial pulmonary disease | Frequent [IBIS] | 49%(n=268) | 24122180 | IBIS | 26 / 7739 |
|
(HPO:0002206) | Pulmonary fibrosis | Frequent [IBIS] | 37%(n=43) | 25030848 | IBIS | 51 / 7739 |
|
(HPO:0002092) | Pulmonary hypertension | Rare [IBIS] | 7%(n=268) | 24122180 | IBIS | 109 / 7739 |
|
(HPO:0002093) | Respiratory insufficiency | Frequent [IBIS] | 67%(n=117) | 17133611 | IBIS | 410 / 7739 |
|
(HPO:0004325) | Decreased body weight | Occasional [IBIS] | 27%(n=153) | 17133611 | IBIS | 492 / 7739 |
|
(HPO:0004326) | Cachexia | 9714351 | IBIS | 71 / 7739 | ||
|
(HPO:0001711) | Abnormality of the left ventricle | Rare [IBIS] | 5%(n=7073) | 19279015 | IBIS | 22 / 7739 |
|
(HPO:0001701) | Pericarditis | Rare [IBIS] | 5%(n=837) | 24646463 | IBIS | 13 / 7739 |
|
(HPO:0001063) | Acrocyanosis | 17107383 | IBIS | 56 / 7739 | ||
|
(HPO:0011675) | Arrhythmia | Occasional [IBIS] | 10%(n=153) | 17133611 | IBIS | 226 / 7739 |
|
(HPO:0100545) | Arterial stenosis | Occasional [IBIS] | 11%(n=831) | 24646463 | IBIS | 22 / 7739 |
|
(HPO:0001635) | Congestive heart failure | Rare [IBIS] | 3%(n=117) | 17133611 | IBIS | 232 / 7739 |
|
(HPO:0000822) | Hypertension | Rare [IBIS] | 7%(n=153) | 17133611 | IBIS | 224 / 7739 |
|
(HPO:0003493) | Antinuclear antibody positivity | Frequent [IBIS] | 88%(n=1029) | 24646463 | IBIS | 15 / 7739 |
|
(HPO:0100324) | Scleroderma | Very frequent [IBIS] | 24122180 | IBIS | 6 / 7739 | |
|
(HPO:0003761) | Calcinosis | Occasional [IBIS] | 20%(n=980) | 24646463 | IBIS | 12 / 7739 |
|
(HPO:0100614) | Myositis | Rare [IBIS] | 7%(n=928) | 24646463 | IBIS | 21 / 7739 |
|
(HPO:0001324) | Muscle weakness | Occasional [IBIS] | 27%(n=117) | 17133611 | IBIS | 859 / 7739 |
|
(HPO:0009830) | Peripheral neuropathy | Occasional [IBIS] | 18%(n=155) | 24646463 | IBIS | 206 / 7739 |
|
(HPO:0100639) | Erectile abnormalities | Frequent [IBIS] | 38%(n=130) | 22348608 | IBIS | 15 / 7739 |
|
(HPO:0002015) | Dysphagia | Occasional [IBIS] | 24%(n=152) | 17133611 | IBIS | 301 / 7739 |
|
(HPO:0001250) | Seizures | Rare [IBIS] | 17133611 | IBIS | 1245 / 7739 | |
|
(HPO:0100749) | Chest pain | Rare [IBIS] | 3%(n=566) | 16320330 | IBIS | 92 / 7739 |
|
(HPO:0005059) | Arthralgia/arthritis | Occasional [IBIS] | 24.5%(n=930) | 24646463 | IBIS | 141 / 7739 |
|
(HPO:0100769) | Synovitis | Occasional [IBIS] | 7073343 | IBIS | 86 / 7739 | |
|
(HPO:0002020) | Gastroesophageal reflux | Occasional [IBIS] | 30%(n=150) | 17133611 | IBIS | 101 / 7739 |
|
(HPO:0002024) | Malabsorption | 17329309 | IBIS | 142 / 7739 | ||
|
(HPO:0000142) | Abnormality of the vagina | Frequent [IBIS] | 7856689 | IBIS | 24 / 7739 | |
|
(HPO:0000670) | Carious teeth | Frequent [IBIS] | 3422721 | IBIS | 145 / 7739 | |
|
(HPO:0000217) | Xerostomia | Frequent [IBIS] | 3422721 | IBIS | 35 / 7739 | |
|
(HPO:0001000) | Abnormality of skin pigmentation | Occasional [IBIS] | 25030848 | IBIS | 105 / 7739 | |
|
(HPO:0000987) | Atypical scarring of skin | Frequent [IBIS] | 39%(n=268) | 24122180 | IBIS | 58 / 7739 |
|
(HPO:0010783) | Erythema | 25030848 | IBIS | 138 / 7739 | ||
|
(HPO:0200042) | Skin ulcer | Frequent [IBIS] | 40%(n=268) | 24122180 | IBIS | 138 / 7739 |
|
(HPO:0011838) | Sclerodactyly | Very frequent [IBIS] | 96%(n=268) | 24122180 | IBIS | 8 / 7739 |
|
(HPO:0100585) | Telangiectasia of the skin | Frequent [IBIS] | 39%(n=268) | 24122180 | IBIS | 66 / 7739 |
|
(OMIM) | Raynaud syndrome | Very frequent [IBIS] | 95%(n=6690) | 19279015 | IBIS | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and ... |
Clinical Description OMIM |
Greger (1975) described 3 males, including father and son, with progressive systemic scleroderma (systemic sclerosis) in an inbred triracial isolate of southern Maryland, known as the Brandywine group. A sister of the aforementioned son had rheumatoid arthritis. The ... |