loading...| Preferred Name |
Birt-Hogg-Dube Syndrome |
|
| Synonyms |
Birt-Hogg-Dube Syndrome Birt-Hogg-Dube syndrome |
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| Definitions |
A rare genetic syndrome with an autosomal dominant pattern of inheritance. It is caused by a mutation in the FLCN gene which encodes the protein folliculin. Clinical signs include multiple benign growths of the skin and lungs that begin to manifest in the second or third decade of life. The clinical course is characterized by the progressive growth of new and existing neoplasms. In those with mutations in both copies of FLCN, the kidneys may also be affected by the growth of benign or malignant neoplasms. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28244 |
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| ALT_DEFINITION |
An inherited condition in which benign tumors develop in hair follicles on the head, chest, back, and arms. People who have this disorder may be at increased risk of developing colon or kidney cancer. |
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| code |
C28244 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 |
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| Contributing_Source |
Cellosaurus CCPS CTRP GDC |
|
| DEFINITION |
A rare genetic syndrome with an autosomal dominant pattern of inheritance. It is caused by a mutation in the FLCN gene which encodes the protein folliculin. Clinical signs include multiple benign growths of the skin and lungs that begin to manifest in the second or third decade of life. The clinical course is characterized by the progressive growth of new and existing neoplasms. In those with mutations in both copies of FLCN, the kidneys may also be affected by the growth of benign or malignant neoplasms. |
|
| Display_Name |
Birt-Hogg-Dube Syndrome |
|
| FULL_SYN |
Birt-Hogg-Dube Syndrome Birt-Hogg-Dube syndrome |
|
| Is_Value_For_GDC_Property | ||
| label |
Birt-Hogg-Dube Syndrome |
|
| Legacy Concept Name |
Birt-Hogg-Dube_Syndrome |
|
| Maps_To |
Birt-Hogg-Dube Syndrome |
|
| Preferred_Name |
Birt-Hogg-Dube Syndrome |
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| prefixIRI |
Thesaurus:C28244 |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0346010 |
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| subClassOf |