ORPHA:122
Birt-Hogg-Dubé syndrome
Synonyms: Hornstein-Knickenberg syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare inherited cancer-predisposing syndrome characterized by skin lesions, benign and malignant kidney tumors, and pulmonary cysts that may be associated with pneumothorax.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Birt-Hogg-Dubé syndrome | Hornstein-Knickenberg syndrome |
| fr | Syndrome de Birt-Hogg-Dubé | Syndrome de Hornstein-Knickenberg |
| de | Birt-Hogg-Dubé-Syndrom | Hornstein-Knickenberg-Syndrom |
| es | Síndrome de Birt-Hogg-Dubé | Síndrome de Hornstein-Knickenberg |
| it | Sindrome di Birt-Hogg-Dubé | Sindrome di Hornstein-Knickenberg |
| nl | Syndroom van Birt-Hogg-Dubé | Syndroom van Hornstein-Knickenberg |
| pt | Síndrome Birt-Hogg-Dubé | Síndrome Hornstein-Knickenberg |
| pl | Zespół Birta-Hogg-Dubégo | = en |
| cs | Birtův-Hoggové-Dubeův syndrom | Fibrofolikulomy s trichodiscomy a akrochordony · Birt-Hogg-Dubeův syndrom |
| uk | Синдром Берт-Хогга-Дюбе | Синдром Горнштейна-Кнікенберга |
| zh | Birt-Hogg-DubÚ综合征 | 纤维滤泡瘤伴毛盘状瘤和皮肤印记 |
| tr | Birt-Hogg-Dubé sendromu | Trikodiskomalar ve akrokordonlarla fibrofolikülomlar |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 135150 | E | validated | |
| OMIM | 620459 | BTNT | validated | |
| ICD-10 | C64 | NTBT | attributed | validated |
| ICD-11 | LD27.5 | NTBT | index | validated |
| MONDO | 0800445 | E | validated | |
| MeSH | D058249 | E | validated | |
| UMLS | C0346010 | E | validated | |
| GARD | 2322 | E | validated | |
| MedDRA | 10067736 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:363250Ciliopathy
rare genetic diseases - ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:319328Inherited renal cancer-predisposing syndrome
rare genetic diseases; rare renal diseases; rare neoplastic diseases - ORPHA:264740Primary interstitial lung disease specific to adulthood
rare respiratory diseases; rare transplant-related disorders - ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:338Familial multiple fibrofolliculoma moved to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLCN | Disease-causing germline mutation(s) in | Assessed | HGNC:27310 | ENSG00000154803 | 607273 | 17p11.2 | folliculin | 20301695[PMID] |
| PRDM10 | Disease-causing germline mutation(s) in | Assessed | HGNC:13995 | ENSG00000170325 | 618319 | 11q24.3 | PR/SET domain 10 | 37331486[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
21 annotations · validated 2025-10-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030436 | Fibrofolliculoma | |
| HP:0010609 | Skin tags | |
| Frequent (79-30%) | ||
| HP:0005948 | Multiple pulmonary cysts | |
| HP:0006522 | Repeated pneumothoraces | |
| HP:0002108 | Spontaneous pneumothorax | |
| Occasional (29-5%) | ||
| HP:0010615 | Angiofibromas | |
| HP:6000022 | Collagenoma | |
| HP:0012056 | Cutaneous melanoma | |
| HP:0200040 | Epidermoid cyst | |
| HP:0002865 | Medullary thyroid carcinoma | |
| HP:0001012 | Multiple lipomas | |
| HP:0002664 | Neoplasm | |
| HP:6000957 | Oral mucosal papule | |
| HP:0002897 | Parathyroid adenoma | |
| HP:0002107 | Pneumothorax | |
| HP:0005584 | Renal cell carcinoma | |
| HP:0000107 | Renal cyst | |
| HP:0031523 | Salivary gland oncocytoma | |
| HP:6000853 | Thyroid cyst | |
| HP:0025388 | Thyroid nodule | |
| HP:0032228 | Trichodiscoma | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20301695[PMID]_40336059[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/122
- This record as JSON: /data/d/122.json