Log In|Sign Up
ENBirt-Hogg-Dube Syndrome 1 (BHD1)
Alias:
Birt-Hogg-Dube Syndrome
Fibrofolliculomas with Trichodiscomas and Acrochordons
Hornstein-Knickenberg Syndrome
Birt-Hogg-Dubé Syndrome
Bhd
Multiple Fibrofolliculomas
Hornstein-Birt-Hogg-Dubé Syndrome
Bhd1
Favorite
Birt-Hogg-Dube Syndrome 1, also known as birt-hogg-dube syndrome, is related to pneumothorax, primary spontaneous and renal cell carcinoma, papillary, 1. An important gene associated with Birt-Hogg-Dube Syndrome 1 is FLCN (Folliculin), and among its related pathways/superpathways are Signal Transduction and Peptide chain elongation. The drugs Pharmaceutical Solutions and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and kidney, and related phenotypes are emphysema and papule
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
