Scleroderma

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 75
OrphanetNr: 801
OMIM Id:
ICD-10: M34
UMLs: C0011644
MeSH:
MedDRA: 10039710
Snomed: 89155008

Prevalence, inheritance and age of onset:

Prevalence: 42 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Systemic disease with skin involvement
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
2
 (HPO:0100639) Erectile abnormalities Occasional [Orphanet] 15 / 7739
3
 (HPO:0000112) Nephropathy Frequent [Orphanet] 92 / 7739
4
 (HPO:0000010) Recurrent urinary tract infections Frequent [Orphanet] 56 / 7739
5
 (HPO:0000142) Abnormality of the vagina Very frequent [Orphanet] 24 / 7739
6
 (HPO:0011037) Decreased urine output Occasional [Orphanet] 47 / 7739
7
 (HPO:0000790) Hematuria Occasional [Orphanet] 106 / 7739
8
 (HPO:0000230) Gingivitis Very frequent [Orphanet] 31 / 7739
9
 (HPO:0000217) Xerostomia Very frequent [Orphanet] 35 / 7739
10
 (HPO:0000225) Gingival bleeding Occasional [Orphanet] 28 / 7739
11
 (HPO:0000163) Abnormality of the oral cavity Very frequent [Orphanet] 37 / 7739
12
 (HPO:0100825) Cheilitis Very frequent [Orphanet] 20 / 7739
13
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
14
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
15
 (HPO:0003134) Abnormality of peripheral nerve conduction Frequent [Orphanet] 38 / 7739
16
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
17
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
18
 (HPO:0002354) Memory impairment Occasional [Orphanet] 63 / 7739
19
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
20
 (HPO:0006824) Cranial nerve paralysis Frequent [Orphanet] 81 / 7739
21
 (HPO:0100769) Synovitis Very frequent [Orphanet] 86 / 7739
22
 (HPO:0100550) Tendon rupture Frequent [Orphanet] 17 / 7739
23
 (HPO:0001367) Abnormal joint morphology Occasional [Orphanet] 53 / 7739
24
 (HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
25
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
26
 (HPO:0002754) Osteomyelitis Occasional [Orphanet] 37 / 7739
27
 (HPO:0100749) Chest pain Very frequent [Orphanet] 92 / 7739
28
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
29
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
30
 (HPO:0002607) Bowel incontinence Frequent [Orphanet] 33 / 7739
31
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
32
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
33
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
34
 (HPO:0002577) Abnormality of the stomach Very frequent [Orphanet] 84 / 7739
35
 (HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
36
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
37
 (HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
38
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
39
 (HPO:0011276) Vascular skin abnormality Very frequent [Orphanet] 24 / 7739
40
 (HPO:0001063) Acrocyanosis Very frequent [Orphanet] 56 / 7739
41
 (HPO:0100579) Mucosal telangiectasiae Frequent [Orphanet] 10 / 7739
42
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
43
 (HPO:0100679) Lack of skin elasticity Very frequent [Orphanet] 29 / 7739
44
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
45
 (HPO:0100585) Telangiectasia of the skin Frequent [Orphanet] 66 / 7739
46
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
47
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
48
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
49
 (HPO:0001025) Urticaria Frequent [Orphanet] 73 / 7739
50
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
51
 (HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
52
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
53
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
54
 (HPO:0001677) Coronary artery disease Frequent [Orphanet] 58 / 7739
55
 (HPO:0001697) Abnormality of the pericardium Frequent [Orphanet] 52 / 7739
56
 (HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
57
 (HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
58
 (HPO:0001637) Abnormality of the myocardium Occasional [Orphanet] 76 / 7739
59
 (HPO:0011025) Abnormality of cardiovascular system physiology Occasional [Orphanet] 41 / 7739
60
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
61
 (HPO:0100758) Gangrene Very frequent [Orphanet] 25 / 7739
62
 (HPO:0002113) Pulmonary infiltrates Occasional [Orphanet] 36 / 7739
63
 (HPO:0002793) Abnormal pattern of respiration Frequent [Orphanet] 26 / 7739
64
 (HPO:0002206) Pulmonary fibrosis Frequent [Orphanet] 51 / 7739
65
 (HPO:0002091) Restrictive ventilatory defect Very frequent [Orphanet] 46 / 7739
66
 (HPO:0100526) Neoplasm of the lung Occasional [Orphanet] 26 / 7739
67
 (HPO:0002960) Autoimmunity Very frequent [Orphanet] 78 / 7739
68
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
69
 (HPO:0100614) Myositis Frequent [Orphanet] 21 / 7739
70
 (HPO:0003326) Myalgia Very frequent [Orphanet] 143 / 7739
71
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
72
 (OMIM) Stiff skin Very frequent [Orphanet] 31 / 7739
73
 ([DEL]MedDRA:10011224) Cough Very frequent [Orphanet] 70 / 7739
74
 (HPO:0012718) Morphological abnormality of the gastrointestinal tract Very frequent [Orphanet] 5 / 7739
75
 (HPO:0030350) Erythematous papule Frequent [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: