Diffuse cutaneous systemic sclerosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Diffuse cutaneous systemic scleroderma Progressive cutaneous systemic scleroderma Progressive cutaneous systemic sclerosis |
| Number of Symptoms | 20 |
| OrphanetNr: | 220393 |
| OMIM Id: |
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| ICD-10: |
M34.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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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: |
Systemic sclerosis
-Rare cardiac disease -Rare renal disease -Rare respiratory disease -Rare skin disease -Rare systemic or rheumatologic disease |
Symptom Information:
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(HPO:0002206) | Pulmonary fibrosis | Frequent [IBIS] | 73%(n=55) | 16261285 | IBIS | 51 / 7739 |
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(HPO:0002092) | Pulmonary hypertension | 16261285 | IBIS | 109 / 7739 | ||
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(HPO:0011675) | Arrhythmia | 16261285 | IBIS | 226 / 7739 | ||
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(HPO:0003761) | Calcinosis | 20143182 | IBIS | 12 / 7739 | ||
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(HPO:0001324) | Muscle weakness | Frequent [IBIS] | 40%(n=55) | 16261285 | IBIS | 859 / 7739 |
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(HPO:0002015) | Dysphagia | 16261285 | IBIS | 301 / 7739 | ||
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(HPO:0009771) | Osteolytic defects of the phalanges of the hand | Occasional [IBIS] | 20%(n=55) | 16261285 | IBIS | 17 / 7739 |
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(HPO:0002829) | Arthralgia | Frequent [IBIS] | 57%(n=55) | 16261285 | IBIS | 79 / 7739 |
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(HPO:0001369) | Arthritis | Occasional [IBIS] | 16%(n=55) | 16261285 | IBIS | 44 / 7739 |
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(HPO:0100550) | Tendon rupture | Occasional [IBIS] | 24%(n=55) | 16261285 | IBIS | 17 / 7739 |
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(HPO:0100769) | Synovitis | 16261285 | IBIS | 86 / 7739 | ||
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(HPO:0001626) | Abnormality of the cardiovascular system | Occasional [IBIS] | 29%(n=55) | 16261285 | IBIS | 73 / 7739 |
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(HPO:0200042) | Skin ulcer | Frequent [IBIS] | 67%(n=55) | 16261285 | IBIS | 138 / 7739 |
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(HPO:0011838) | Sclerodactyly | 20143182 | IBIS | 8 / 7739 | ||
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(HPO:0100585) | Telangiectasia of the skin | Frequent [IBIS] | 55%(n=55) | 16261285 | IBIS | 66 / 7739 |
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(HPO:0000083) | Renal insufficiency | Occasional [IBIS] | 16%(n=55) | 16261285 | IBIS | 232 / 7739 |
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(HPO:0000093) | Proteinuria | 16261285 | IBIS | 169 / 7739 | ||
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(HPO:0001371) | Flexion contracture | Frequent [IBIS] | 71%(n=55) | 16261285 | IBIS | 220 / 7739 |
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(HPO:0030057) | Autoimmune antibody positivity | 16261285 | IBIS | 6 / 7739 | ||
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(HPO:0012719) | Functional abnormality of the gastrointestinal tract | Frequent [IBIS] | 85%(n=55) | 16261285 | IBIS | 17 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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