Cystic hamartoma of lung and kidney
General Information (adopted from Orphanet):
Synonyms, Signs:
|
|
Number of Symptoms
|
5
|
OrphanetNr:
|
2111
|
OMIM Id:
|
|
ICD-10:
|
|
UMLs:
|
|
MeSH:
|
|
MedDRA:
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
Prevalence:
|
<
5
cases
[Orphanet]
|
Inheritance:
|
Unknown
[Orphanet]
|
Age of onset:
|
Childhood
[Orphanet]
|
Disease classification (adopted from Orphanet):
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
1
|
(HPO:0000107)
|
Renal cyst |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
2
|
(HPO:0000822)
|
Hypertension |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
3
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
5
|
(HPO:0002206)
|
Pulmonary fibrosis |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |