Pediatric systemic sclerosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Pediatric systemic scleroderma |
| Number of Symptoms | 23 |
| OrphanetNr: | 93567 |
| 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: |
Childhood Adolescent 17133611 [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:
| Juvenile SSc appears to be less severe than in adults because children have less internal organ involvement, a less specific autoantibody profile, and a better long-term outcome (PMID:17133611). |
Symptom Information:
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(HPO:0002014) | Diarrhea | Occasional [IBIS] | 10%(n=151) | 17133611 | IBIS | 225 / 7739 |
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(HPO:0002094) | Dyspnea | Occasional [IBIS] | 18%(n=151) | 17133611 | IBIS | 132 / 7739 |
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(HPO:0001824) | Weight loss | Occasional [IBIS] | 27%(n=151) | 17133611 | IBIS | 42 / 7739 |
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(HPO:0001701) | Pericarditis | Occasional [IBIS] | 10%(n=153) | 17133611 | IBIS | 13 / 7739 |
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(HPO:0001635) | Congestive heart failure | Rare [IBIS] | 7%(n=150) | 17133611 | IBIS | 232 / 7739 |
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(HPO:0000822) | Hypertension | Rare [IBIS] | 7%(n=153) | 17133611 | IBIS | 224 / 7739 |
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(HPO:0100817) | Renovascular hypertension | Rare [IBIS] | 3%(n=153) | 17133611 | IBIS | 9 / 7739 |
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(HPO:0000969) | Edema | Frequent [IBIS] | 46%(n=145) | 17133611 | IBIS | 117 / 7739 |
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(HPO:0003493) | Antinuclear antibody positivity | Frequent [IBIS] | 81%(n=150) | 17133611 | IBIS | 15 / 7739 |
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(HPO:0003761) | Calcinosis | Occasional [IBIS] | 19%(n=151) | 17133611 | IBIS | 12 / 7739 |
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(HPO:0001324) | Muscle weakness | Occasional [IBIS] | 24%(n=152) | 17133611 | IBIS | 859 / 7739 |
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(HPO:0009830) | Peripheral neuropathy | Rare [IBIS] | 1%(n=153) | 17133611 | IBIS | 206 / 7739 |
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(HPO:0002015) | Dysphagia | Occasional [IBIS] | 24%(n=152) | 17133611 | IBIS | 301 / 7739 |
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(HPO:0001250) | Seizures | Rare [IBIS] | 3%(n=153) | 17133611 | IBIS | 1245 / 7739 |
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(HPO:0002829) | Arthralgia | Frequent [IBIS] | 36%(n=150) | 17133611 | IBIS | 79 / 7739 |
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(HPO:0001369) | Arthritis | Occasional [IBIS] | 27%(n=152) | 17133611 | IBIS | 44 / 7739 |
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(HPO:0100769) | Synovitis | Occasional [IBIS] | 16%(n=142) | 17133611 | IBIS | 86 / 7739 |
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(HPO:0001803) | Nail pits | Frequent [IBIS] | 38%(n=150) | 17133611 | IBIS | 17 / 7739 |
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(HPO:0002020) | Gastroesophageal reflux | Occasional [IBIS] | 30%(n=150) | 17133611 | IBIS | 101 / 7739 |
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(HPO:0011838) | Sclerodactyly | Frequent [IBIS] | 66%(n=153) | 17133611 | IBIS | 8 / 7739 |
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(HPO:0100585) | Telangiectasia of the skin | 20143182 | IBIS | 66 / 7739 | ||
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(HPO:0000093) | Proteinuria | Rare [IBIS] | 5%(n=153) | 17133611 | IBIS | 169 / 7739 |
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(HPO:0030053) | Stiff skin | Frequent [IBIS] | 76%(n=153) | 17133611 | IBIS | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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