ORPHA:90291
Systemic sclerosis
Synonyms: Systemic scleroderma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adult
- Status
- active
Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Systemic sclerosis | Systemic scleroderma |
| fr | Sclérodermie systémique | |
| de | Systemische Sklerodermie | Sklerose, systemische |
| es | Esclerosis sistémica | Esclerodermia sistémica |
| it | Sclerosi sistemica | |
| nl | Systemische sclerose | Systemische sclerodermie |
| pt | Esclerose sistémica | Esclerodermia sistémica |
| pl | Twardzina układowa | = en |
| cs | Systémová skleróza | Systémová sklerodermie |
| uk | Системний склероз | Системна склеродермія |
| zh | 系统性硬化症 | 系统性硬皮病 |
| tr | Sistemik skleroz | Sistemik skleroderma |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 181750 | BTNT | validated | |
| ICD-10 | M34.0 | BTNT | specific | validated |
| ICD-10 | M34.1 | BTNT | specific | validated |
| ICD-10 | M34.2 | BTNT | specific | validated |
| ICD-10 | M34.8 | BTNT | specific | validated |
| ICD-10 | M34.9 | BTNT | specific | validated |
| ICD-11 | 4A42 | E | specific | validated |
| MONDO | 0005100 | E | validated | |
| MeSH | D012595 | E | validated | |
| UMLS | C0036421 | E | validated | |
| GARD | 9748 | E | validated | |
| MedDRA | 10042953 | 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 (6):
- ORPHA:217720Non-familial restrictive cardiomyopathy
rare cardiac diseases - ORPHA:567558Non-genetic systemic disease with glomerulopathy as a major feature
rare renal diseases; rare transplant-related disorders - ORPHA:280373Rare pediatric systemic disease
rare systemic or rheumatologic diseases of childhood - ORPHA:101944Rare pulmonary disease
rare respiratory diseases - ORPHA:801Scleroderma
rare skin diseases - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:93567OBSOLETE: Pediatric systemic sclerosis referred to · inactive
4
Genes
0 direct · 12 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CAV1 | ORPHA:220393Diffuse cutaneous systemic sclerosis | Major susceptibility factor in | Assessed | HGNC:1527 | ENSG00000105974 | 601047 | 7q31.2 | caveolin 1 | 22402147[PMID] |
| CAV1 | ORPHA:220402Limited cutaneous systemic sclerosis | Major susceptibility factor in | Assessed | HGNC:1527 | ENSG00000105974 | 601047 | 7q31.2 | caveolin 1 | 22402147[PMID] |
| CCN2 | ORPHA:220393Diffuse cutaneous systemic sclerosis | Major susceptibility factor in | Not yet assessed | HGNC:2500 | ENSG00000118523 | 121009 | 6q23.2 | cellular communication network factor 2 | |
| CCN2 | ORPHA:220402Limited cutaneous systemic sclerosis | Major susceptibility factor in | Not yet assessed | HGNC:2500 | ENSG00000118523 | 121009 | 6q23.2 | cellular communication network factor 2 | |
| CCR6 | ORPHA:220393Diffuse cutaneous systemic sclerosis | Major susceptibility factor in | Assessed | HGNC:1607 | ENSG00000112486 | 601835 | 6q27 | C-C motif chemokine receptor 6 | 23983073[PMID] |
| CCR6 | ORPHA:220402Limited cutaneous systemic sclerosis | Major susceptibility factor in | Assessed | HGNC:1607 | ENSG00000112486 | 601835 | 6q27 | C-C motif chemokine receptor 6 | 23983073[PMID] |
| HLA-DRB1 | ORPHA:220393Diffuse cutaneous systemic sclerosis | Major susceptibility factor in | Not yet assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | |
| HLA-DRB1 | ORPHA:220402Limited cutaneous systemic sclerosis | Major susceptibility factor in | Not yet assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | |
| HLA-DRB1 | ORPHA:220407Limited systemic sclerosis | Major susceptibility factor in | Not yet assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | |
| IRF5 | ORPHA:220393Diffuse cutaneous systemic sclerosis | Major susceptibility factor in | Assessed | HGNC:6120 | ENSG00000128604 | 607218 | 7q32.1 | interferon regulatory factor 5 | 23372721[PMID] |
| IRF5 | ORPHA:220402Limited cutaneous systemic sclerosis | Major susceptibility factor in | Assessed | HGNC:6120 | ENSG00000128604 | 607218 | 7q32.1 | interferon regulatory factor 5 | 23372721[PMID] |
| KIAA0319L | ORPHA:220402Limited cutaneous systemic sclerosis | Major susceptibility factor in | Not yet assessed | HGNC:30071 | ENSG00000142687 | 613535 | 1p34.3 | KIAA0319 like | 23740937[PMID] |
5
Prevalence and incidence
17 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 15.4 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Annual incidence | >1 / 1000 | 230 / 100 000 | Spain | Value and class | Validated | 18794710[PMID] |
| Point prevalence | 1-5 / 10 000 | 27.7 / 100 000 | Spain | Value and class | Validated | 18794710[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.8 / 100 000 | United Kingdom | Value and class | Validated | 14872101[PMID] |
| Point prevalence | 1-5 / 10 000 | 17.3 / 100 000 | France | Value and class | Validated | ORPHANET_15213329[PMID]_23290691[PMID]_26816302[PMID] |
| Annual incidence | >1 / 1000 | 110 / 100 000 | Greece | Value and class | Validated | 15846586[PMID] |
| Point prevalence | 1-5 / 10 000 | 15.4 / 100 000 | Greece | Value and class | Validated | 15846586[PMID] |
| Annual incidence | 6-9 / 10 000 | 72 / 100 000 | Japan | Value and class | Validated | 1796818[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.6 / 100 000 | Japan | Value and class | Not yet validated | 1796818[PMID] |
| Point prevalence | 1-5 / 10 000 | 30 / 100 000 | United States | Value and class | Validated | 18430269[PMID] |
| Point prevalence | 1-5 / 10 000 | 44.3 / 100 000 | Canada | Value and class | Validated | 19248123[PMID] |
| Annual incidence | >1 / 1000 | 204 / 100 000 | Australia | Value and class | Validated | 11456035[PMID] |
| Point prevalence | 1-5 / 10 000 | 23.3 / 100 000 | Australia | Value and class | Validated | 11456035[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.09 / 100 000 | Taiwan, Province of China | Value and class | Validated | 21388247[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.63 / 100 000 | Taiwan, Province of China | Value and class | Validated | 21388247[PMID] |
| Point prevalence | 1-5 / 10 000 | 22.2 / 100 000 | Italy | Value and class | Validated | 33596949[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.7 / 100 000 | Italy | Value and class | Validated | 33596949[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.
6
HPO phenotypes
86 annotations · validated 2020-12-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0002829 | Arthralgia | |
| HP:0031359 | Cutaneous sclerotic plaque | |
| HP:0003326 | Myalgia | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0002031 | Abnormal esophagus morphology | |
| HP:0006261 | Abnormal phalangeal joint morphology of the hand | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0006121 | Acral ulceration | |
| HP:0034089 | Anti-B23 antibody positivity | |
| HP:0034088 | Anti-Ku antibody positivity | |
| HP:0033560 | Anti-PM-Scl antibody positivity | |
| HP:0034085 | Anti-PM-Scl100 antibody positivity | |
| HP:0034086 | Anti-PM-Scl75 antibody positivity | |
| HP:0033038 | Anti-RNA-polymerase-III-autoantibody positivity | |
| HP:0034093 | Anti-Ro52/TRIM21 antibody positivity | |
| HP:0034090 | Anti-RuvBL1/2 antibody positivity | |
| HP:0034081 | Anti-Th/To antibody positivity | |
| HP:0034087 | Anti-U11/U12 RNP antibody positivity | |
| HP:0034080 | Anti-U3 RNP antibody positivity | |
| HP:0034094 | Anti-angiotensin receptor type-1 antibody positivity | |
| HP:0034117 | Anti-angiotensin-converting enzyme 2 antibody positivity | |
| HP:0034082 | Anti-bicaudal D2 antibody positivity | |
| HP:0033394 | Anti-carbonic anhydrase II antibody positivity | |
| HP:0034078 | Anti-centromere protein A antibody positivity | |
| HP:0034079 | Anti-centromere protein B antibody positivity | |
| HP:0034095 | Anti-endothelin-1 type A receptor antibody positivity | |
| HP:0034083 | Anti-nucleolus-organizing region antibody positivity | |
| HP:4000170 | Anti-platelet antigen antibody positivity | |
| HP:0034091 | Anti-platelet derived growth factor receptor | |
| HP:0030859 | Anti-topoisomerase I antibody positivity | |
| HP:4000171 | Anti-voltage-gated potassium channel antibody positivity | |
| HP:0030873 | Anticentromere antibody positivity | |
| HP:0025520 | Calcinosis cutis | |
| HP:0031293 | Digital pitting scar | |
| HP:0031917 | Digital ulcer | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0025131 | Finger swelling | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0001386 | Joint swelling | |
| HP:0001324 | Muscle weakness | |
| HP:0001232 | Nail bed telangiectasia | |
| HP:0000160 | Narrow mouth | |
| HP:0012531 | Pain | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0011838 | Sclerodactyly | |
| HP:0005590 | Spotty hypopigmentation | |
| HP:0001009 | Telangiectasia | |
| Occasional (29-5%) | ||
| HP:0002250 | Abnormal large intestine morphology | |
| HP:0002577 | Abnormal stomach morphology | |
| HP:0011799 | Abnormality of facial soft tissue | |
| HP:0002244 | Abnormality of the small intestine | |
| HP:0001919 | Acute kidney injury | |
| HP:0012592 | Albuminuria | |
| HP:0001596 | Alopecia | |
| HP:0001369 | Arthritis | |
| HP:0100580 | Barrett esophagus | |
| HP:0002607 | Bowel incontinence | |
| HP:0012622 | Chronic kidney disease | |
| HP:0012185 | Constrictive median neuropathy | |
| HP:0002617 | Dilatation | |
| HP:0002015 | Dysphagia | |
| HP:0002094 | Dyspnea | |
| HP:0001371 | Flexion contracture | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002604 | Gastrointestinal telangiectasia | |
| HP:0002578 | Gastroparesis | |
| HP:0000099 | Glomerulonephritis | |
| HP:0000966 | Hypohidrosis | |
| HP:0031329 | Interstitial cardiac fibrosis | |
| HP:0002584 | Intestinal bleeding | |
| HP:0012819 | Myocarditis | |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | |
| HP:0002754 | Osteomyelitis | |
| HP:0001701 | Pericarditis | |
| HP:0000093 | Proteinuria | |
| HP:0000989 | Pruritus | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001581 | Recurrent skin infections | |
| HP:0000083 | Renal insufficiency | |
| HP:0001708 | Right ventricular failure | |
| HP:0001279 | Syncope | |
| Very rare (<4-1%) | ||
| HP:0100758 | Gangrene | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 28792092[PMID]_31498665[PMID]_26577237[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90291
- This record as JSON: /data/d/90291.json