loading...| Preferred Name |
BIRT-HOGG-DUBE SYNDROME 1 |
|
| Synonyms |
HORNSTEIN-KNICKENBERG SYNDROME |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/135150 |
|
| altLabel |
HORNSTEIN-KNICKENBERG SYNDROME BHD1 FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS BHD |
|
| cui |
C0346010 |
|
| Gene Locus |
17p11.2 |
|
| Gene Symbol |
FLCN BHD |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU027069 http://purl.bioontology.org/ontology/OMIM/MTHU033183 http://purl.bioontology.org/ontology/OMIM/MTHU027068 http://purl.bioontology.org/ontology/OMIM/MTHU027057 http://purl.bioontology.org/ontology/OMIM/MTHU027062 http://purl.bioontology.org/ontology/OMIM/MTHU036752 http://purl.bioontology.org/ontology/OMIM/MTHU027056 http://purl.bioontology.org/ontology/OMIM/MTHU067161 http://purl.bioontology.org/ontology/OMIM/MTHU015155 http://purl.bioontology.org/ontology/OMIM/MTHU027058 http://purl.bioontology.org/ontology/OMIM/MTHU018164 http://purl.bioontology.org/ontology/OMIM/MTHU027060 http://purl.bioontology.org/ontology/OMIM/MTHU018160 http://purl.bioontology.org/ontology/OMIM/MTHU016136 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
135150 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
BIRT-HOGG-DUBE SYNDROME 1 |
|
| Scope Statement |
Intrafamilial variability [MISCELLANEOUS] Mean age of presentation of renal cancer is 50 years, but earlier onset has been reported [MISCELLANEOUS] See also isolated pneumothorax (173600), an allelic disorder that may represent a mild form of the BHD syndrome [MISCELLANEOUS] Features usually appear during adulthood [MISCELLANEOUS] Caused by mutation in the folliculin gene (FLCN, 607273.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |