Localized scleroderma
General Information (adopted from Orphanet):
Synonyms, Signs: |
Localized fibrosing scleroderma |
Number of Symptoms | 10 |
OrphanetNr: | 90289 |
OMIM Id: |
|
ICD-10: |
L94.0 |
UMLs: |
C0036420 |
MeSH: |
D012594 |
MedDRA: |
10039712 |
Snomed: |
201048007 |
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Not applicable [Orphanet] |
Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Scleroderma
-Rare skin disease |
Symptom Information:
|
(HPO:0001171) | Split hand | Occasional [Orphanet] | 72 / 7739 | |||
|
(HPO:0002817) | Abnormality of the upper limb | Occasional [Orphanet] | 25 / 7739 | |||
|
(HPO:0100559) | Lower limb asymmetry | Occasional [Orphanet] | 30 / 7739 | |||
|
(HPO:0010161) | Abnormality of the phalanges of the toes | Occasional [Orphanet] | 3 / 7739 | |||
|
(HPO:0100555) | Asymmetric growth | Occasional [Orphanet] | 25 / 7739 | |||
|
(HPO:0000951) | Abnormality of the skin | Very frequent [Orphanet] | 147 / 7739 | |||
|
(HPO:0000958) | Dry skin | Very frequent [Orphanet] | 152 / 7739 | |||
|
(HPO:0001053) | Hypopigmented skin patches | Very frequent [Orphanet] | 80 / 7739 | |||
|
(HPO:0003202) | Skeletal muscle atrophy | Frequent [Orphanet] | 281 / 7739 | |||
|
(OMIM) | Stiff skin | Very frequent [Orphanet] | 31 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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