Birt-hogg-dube syndrome 1

Preferred Label : Birt-hogg-dube syndrome 1;

Symbol : BHD1;

CISMeF acronym : BHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hornstein-knickenberg syndrome; Fibrofolliculomas with trichodiscomas and acrochordons; BHD;

Description : Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax (Nickerson et al., 2002). BHD is similar to, but histologically and genetically distinct from, familial multiple discoid fibromas (FMDF; 190340).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the folliculin gene (FLCN, 607273.0001);

Neoplasia : Renal carcinoma; Parotid oncocytomas; Neural tissue tumors; Lipomas; Angiolipomas;

Prefixed ID : #135150;

Details

Origin ID

135150;

UMLS CUI

C0346010;

Automatic exact mappings (from CISMeF team)
- BHD gene [LOINC component]
- Birt-Hogg-Dubé syndrome [ICD-11 More detail]
- Carmustine/Dacarbazine/Hydroxyurea Regimen [NCIt concept]
- FLCN wt Allele [NCIt concept]
- Folliculin [NCIt concept]
- folliculin [ORDO Gene]
- folliculin [HGNC gene]
- subutex [MeSH concept]
Currated CISMeF NLP mapping
- Birt Hogg Dubé syndrome (disorder) [SNOMED CT concept]
- Birt-Hogg-Dube Syndrome [NCIt concept]
- Birt-Hogg-Dube syndrome [DO Concept]
- Birt-Hogg-Dube syndrome [Disease (Nov.)]
- Birt-Hogg-Dube syndrome [MedDRA Preferred Term]
- Birt-Hogg-Dube syndrome [MeSH Descriptor]
- Birt-Hogg-Dube syndrome [MeSH concept]
- Birt-Hogg-Dubé syndrome [PASCAL descriptor]
- Birt-Hogg-Dubé syndrome [ORDO Disease]
- Multiple fibrofolliculomas (disorder) [SNOMED CT concept]
DO Cross reference
- Birt-Hogg-Dube syndrome [DO Concept]
Genes related to phenotype
- Folliculin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Colon cancer [HPO term]
- Cutaneous leiomyoma [HPO term]
- Cutaneous leiomyosarcoma [HPO term]
- Fibrofolliculoma [HPO term]
- Large intestinal polyposis [HPO term]
- Multiple lipomas [HPO term]
- Multiple pulmonary cysts [HPO term]
- Renal cell carcinoma [HPO term]
- Renal cyst [HPO term]
- Renal neoplasm [HPO term]
- Sebaceous hyperplasia [HPO term]
- Spontaneous pneumothorax [HPO term]
- Trichodiscoma [HPO term]
ORDO concept(s)
- Birt-Hogg-Dubé syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Birt Hogg Dubé syndrome (disorder) [SNOMED CT concept]
- Birt-Hogg-Dube Syndrome [NCIt concept]
- Birt-Hogg-Dube syndrome [MedDRA Preferred Term]
- Birt-Hogg-Dube syndrome [MeSH Descriptor]
- Birt-Hogg-Dube syndrome [MeSH concept]
- Birt-Hogg-Dube syndrome [DO Concept]
- Birt-Hogg-Dube syndrome [Disease (Nov.)]
- Birt-Hogg-Dubé syndrome [ORDO Disease]
- Familial multiple fibrofolliculoma (disorder) [SNOMED CT concept]
- Multiple fibrofolliculomas (disorder) [SNOMED CT concept]

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