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: Sort by abundance 

1
(HPO:0006530) Interstitial pulmonary disease Frequent [IBIS] 49%(n=268) 24122180 IBIS 26 / 7739
2
(HPO:0002206) Pulmonary fibrosis Frequent [IBIS] 37%(n=43) 25030848 IBIS 51 / 7739
3
(HPO:0002092) Pulmonary hypertension Rare [IBIS] 7%(n=268) 24122180 IBIS 109 / 7739
4
(HPO:0002093) Respiratory insufficiency Frequent [IBIS] 67%(n=117) 17133611 IBIS 410 / 7739
5
(HPO:0004325) Decreased body weight Occasional [IBIS] 27%(n=153) 17133611 IBIS 492 / 7739
6
(HPO:0004326) Cachexia 9714351 IBIS 71 / 7739
7
(HPO:0001711) Abnormality of the left ventricle Rare [IBIS] 5%(n=7073) 19279015 IBIS 22 / 7739
8
(HPO:0001701) Pericarditis Rare [IBIS] 5%(n=837) 24646463 IBIS 13 / 7739
9
(HPO:0001063) Acrocyanosis 17107383 IBIS 56 / 7739
10
(HPO:0011675) Arrhythmia Occasional [IBIS] 10%(n=153) 17133611 IBIS 226 / 7739
11
(HPO:0100545) Arterial stenosis Occasional [IBIS] 11%(n=831) 24646463 IBIS 22 / 7739
12
(HPO:0001635) Congestive heart failure Rare [IBIS] 3%(n=117) 17133611 IBIS 232 / 7739
13
(HPO:0000822) Hypertension Rare [IBIS] 7%(n=153) 17133611 IBIS 224 / 7739
14
(HPO:0003493) Antinuclear antibody positivity Frequent [IBIS] 88%(n=1029) 24646463 IBIS 15 / 7739
15
(HPO:0100324) Scleroderma Very frequent [IBIS] 24122180 IBIS 6 / 7739
16
(HPO:0003761) Calcinosis Occasional [IBIS] 20%(n=980) 24646463 IBIS 12 / 7739
17
(HPO:0100614) Myositis Rare [IBIS] 7%(n=928) 24646463 IBIS 21 / 7739
18
(HPO:0001324) Muscle weakness Occasional [IBIS] 27%(n=117) 17133611 IBIS 859 / 7739
19
(HPO:0009830) Peripheral neuropathy Occasional [IBIS] 18%(n=155) 24646463 IBIS 206 / 7739
20
(HPO:0100639) Erectile abnormalities Frequent [IBIS] 38%(n=130) 22348608 IBIS 15 / 7739
21
(HPO:0002015) Dysphagia Occasional [IBIS] 24%(n=152) 17133611 IBIS 301 / 7739
22
(HPO:0001250) Seizures Rare [IBIS] 17133611 IBIS 1245 / 7739
23
(HPO:0100749) Chest pain Rare [IBIS] 3%(n=566) 16320330 IBIS 92 / 7739
24
(HPO:0005059) Arthralgia/arthritis Occasional [IBIS] 24.5%(n=930) 24646463 IBIS 141 / 7739
25
(HPO:0100769) Synovitis Occasional [IBIS] 7073343 IBIS 86 / 7739
26
(HPO:0002020) Gastroesophageal reflux Occasional [IBIS] 30%(n=150) 17133611 IBIS 101 / 7739
27
(HPO:0002024) Malabsorption 17329309 IBIS 142 / 7739
28
(HPO:0000142) Abnormality of the vagina Frequent [IBIS] 7856689 IBIS 24 / 7739
29
(HPO:0000670) Carious teeth Frequent [IBIS] 3422721 IBIS 145 / 7739
30
(HPO:0000217) Xerostomia Frequent [IBIS] 3422721 IBIS 35 / 7739
31
(HPO:0001000) Abnormality of skin pigmentation Occasional [IBIS] 25030848 IBIS 105 / 7739
32
(HPO:0000987) Atypical scarring of skin Frequent [IBIS] 39%(n=268) 24122180 IBIS 58 / 7739
33
(HPO:0010783) Erythema 25030848 IBIS 138 / 7739
34
(HPO:0200042) Skin ulcer Frequent [IBIS] 40%(n=268) 24122180 IBIS 138 / 7739
35
(HPO:0011838) Sclerodactyly Very frequent [IBIS] 96%(n=268) 24122180 IBIS 8 / 7739
36
(HPO:0100585) Telangiectasia of the skin Frequent [IBIS] 39%(n=268) 24122180 IBIS 66 / 7739
37
(OMIM) Raynaud syndrome Very frequent [IBIS] 95%(n=6690) 19279015 IBIS 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...