Familial spontaneous pneumothorax
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial spontaneous pneumothorax | |
| fr | Pneumothorax spontané familial | |
| de | Spontanpneumothorax, familiärer | |
| es | Neumotórax espontáneo familiar | |
| it | Pneumotorace spontaneo familiare | |
| nl | Familiale spontane pneumothorax | Familiale spontane klaplong |
| pt | Pneumotórax espontâneo tipo familiar | |
| pl | Rodzinna spontaniczna odma opłucnowa | |
| cs | Familiární spontánní pneumotorax | |
| uk | Сімейний спонтанний пневмоторакс | |
| zh | 家族性自发性气胸 | |
| tr | Ailesel spontan pnömotoraks |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 173600 | E | validated | |
| ICD-10 | J93.1 | NTBT | attributed | validated |
| ICD-11 | CB21.1 | NTBT | index | validated |
| MONDO | 0008259 | E | validated | |
| UMLS | C4275252 | E | validated | |
| GARD | 4997 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:101944Rare pulmonary disease
rare respiratory diseases
No children.
Genes
1 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 | 15657874[PMID]_18505456[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 54.64 / 100 000 | Finland | Value and class | Validated | 22643181[PMID]_21364698[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002103 | Abnormality of the pleura | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0002107 | Pneumothorax | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2903
- This record as JSON: /data/d/2903.json