NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
6
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
163850
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
Autosomal dominant inheritance
[Omim]
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0000081)
|
Duplicated collecting system |
|
|
|
|
16 / 7739
|
|
2
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
3
|
(HPO:0000079)
|
Abnormality of the urinary system |
|
|
|
|
88 / 7739
|
|
4
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
|
5
|
(OMIM)
|
Nodular cutaneous fibrosis |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |