Limited systemic sclerosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 23 |
| OrphanetNr: | 220407 |
| 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: |
299276009 |
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 |
Comment:
| Limited systemic sclerosis is defined by skin thickening of the extremities distal to the knee and elbow joints, facial skin and occurrence of Raynaud phenomenon, which usually appears many years prior to skin involvement (PMID:24389298). From 1598 limited systemic sclerosis patients, registered in the database of the German Network for Systemic Scleroderma, 85.9% were females (PMID:24389298). |
Symptom Information:
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(HPO:0001097) | Keratoconjunctivitis sicca | 24389298 | IBIS | 25 / 7739 | ||
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(HPO:0002206) | Pulmonary fibrosis | Occasional [IBIS] | 25%(n=1598) | 24389298 | IBIS | 51 / 7739 |
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(HPO:0002092) | Pulmonary hypertension | Occasional [IBIS] | 12%(n=1598) | 24389298 | IBIS | 109 / 7739 |
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(HPO:0011675) | Arrhythmia | 24389298 | IBIS | 226 / 7739 | ||
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(HPO:0001962) | Palpitations | 24389298 | IBIS | 62 / 7739 | ||
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(HPO:0003236) | Elevated serum creatine phosphokinase | Rare [IBIS] | 6%(n=1598) | 24389298 | IBIS | 214 / 7739 |
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(HPO:0003493) | Antinuclear antibody positivity | Frequent [IBIS] | 88%(n=1598) | 24389298 | IBIS | 15 / 7739 |
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(HPO:0003202) | Skeletal muscle atrophy | Occasional [IBIS] | 9%(n=1598) | 24389298 | IBIS | 281 / 7739 |
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(HPO:0003761) | Calcinosis | 20143182 | IBIS | 12 / 7739 | ||
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(HPO:0001324) | Muscle weakness | Occasional [IBIS] | 21%(n=1598) | 24389298 | IBIS | 859 / 7739 |
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(HPO:0002015) | Dysphagia | Frequent [IBIS] | 57%(n=1598) | 24389298 | IBIS | 301 / 7739 |
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(HPO:0100550) | Tendon rupture | Rare [IBIS] | 5%(n=1598) | 24389298 | IBIS | 17 / 7739 |
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(HPO:0100769) | Synovitis | Occasional [IBIS] | 12%(n=1598) | 24389298 | IBIS | 86 / 7739 |
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(HPO:0001376) | Limitation of joint mobility | Occasional [IBIS] | 20%(n=1598) | 24389298 | IBIS | 27 / 7739 |
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(HPO:0001626) | Abnormality of the cardiovascular system | Occasional [IBIS] | 10%(n=1598) | 24389298 | IBIS | 73 / 7739 |
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(HPO:0000217) | Xerostomia | 24389298 | IBIS | 35 / 7739 | ||
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(HPO:0200042) | Skin ulcer | Occasional [IBIS] | 23%(n=1598) | 24389298 | IBIS | 138 / 7739 |
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(HPO:0011838) | Sclerodactyly | 20143182 | IBIS | 8 / 7739 | ||
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(HPO:0100585) | Telangiectasia of the skin | 20143182 | IBIS | 66 / 7739 | ||
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(HPO:0000083) | Renal insufficiency | Occasional [IBIS] | 10%(n=1598) | 24389298 | IBIS | 232 / 7739 |
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(HPO:0000093) | Proteinuria | Rare [IBIS] | 6%(n=1598) | 24389298 | IBIS | 169 / 7739 |
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(HPO:0012592) | Albuminuria | 24389298 | IBIS | 6 / 7739 | ||
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(HPO:0012719) | Functional abnormality of the gastrointestinal tract | Frequent [IBIS] | 56%(n=1598) | 24389298 | IBIS | 17 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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