Limited cutaneous systemic sclerosis

General Information (adopted from Orphanet):

Synonyms, Signs: Limited cutaneous systemic scleroderma
Number of Symptoms 21
OrphanetNr: 220402
OMIM Id:
ICD-10: M34.1
UMLs:
MeSH:
MedDRA:
Snomed:

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: Sort by abundance 

1
 (HPO:0002206) Pulmonary fibrosis Occasional [IBIS] 16%(n=50) 16261285 IBIS 51 / 7739
2
 (HPO:0002092) Pulmonary hypertension 16261285 IBIS 109 / 7739
3
 (HPO:0001685) Myocardial fibrosis 16261285 IBIS 30 / 7739
4
 (HPO:0001701) Pericarditis 16261285 IBIS 13 / 7739
5
 (HPO:0011675) Arrhythmia 16261285 IBIS 226 / 7739
6
 (HPO:0003761) Calcinosis 20143182 IBIS 12 / 7739
7
 (HPO:0001324) Muscle weakness Occasional [IBIS] 22%(n=50) 16261285 IBIS 859 / 7739
8
 (HPO:0002015) Dysphagia 16261285 IBIS 301 / 7739
9
 (HPO:0009771) Osteolytic defects of the phalanges of the hand Occasional [IBIS] 24%(n=50) 16261285 IBIS 17 / 7739
10
 (HPO:0002829) Arthralgia Frequent [IBIS] 38%(n=50) 16261285 IBIS 79 / 7739
11
 (HPO:0001369) Arthritis Occasional [IBIS] 16%(n=50) 16261285 IBIS 44 / 7739
12
 (HPO:0100550) Tendon rupture Rare [IBIS] 6%(n=50) 16261285 IBIS 17 / 7739
13
 (HPO:0001626) Abnormality of the cardiovascular system Occasional [IBIS] 8%(n=50) 16261285 IBIS 73 / 7739
14
 (HPO:0200042) Skin ulcer Frequent [IBIS] 46%(n=50) 16261285 IBIS 138 / 7739
15
 (HPO:0011838) Sclerodactyly 20143182 IBIS 8 / 7739
16
 (HPO:0100585) Telangiectasia of the skin 16261285 IBIS 66 / 7739
17
 (HPO:0000083) Renal insufficiency Rare [IBIS] 2%(n=50) 16261285 IBIS 232 / 7739
18
 (HPO:0000093) Proteinuria 16261285 IBIS 169 / 7739
19
 (HPO:0001371) Flexion contracture Occasional [IBIS] 26%(n=50) 16261285 IBIS 220 / 7739
20
 (HPO:0030057) Autoimmune antibody positivity Very frequent [IBIS] 96%(n=191) 3348823 IBIS 6 / 7739
21
 (HPO:0012719) Functional abnormality of the gastrointestinal tract Frequent [IBIS] 64%(n=50) 16261285 IBIS 17 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: