Familial spontaneous pneumothorax

General Information (adopted from Orphanet):

Synonyms, Signs: PSP
Number of Symptoms 9
OrphanetNr: 2903
OMIM Id: 173600
ICD-10: J93.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic respiratory disease
 -Rare genetic disease
Rare pulmonary disease
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
(HPO:0200037) Skin vesicle 102 / 7739
2
(HPO:0008066) Abnormal blistering of the skin 20 / 7739
3
(HPO:0002103) Abnormality of the pleura Very frequent [Orphanet] 58 / 7739
4
(HPO:0002107) Pneumothorax 7 / 7739
5
(HPO:0012252) Abnormal respiratory system morphology Very frequent [Orphanet] 14 / 7739
6
(HPO:0002108) Spontaneous pneumothorax 3 / 7739
7
(HPO:0003829) Incomplete penetrance 85 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(OMIM) Subpleural blebs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Birt-Hogg-Dube syndrome (BHD; 135150) is an allelic disorder characterized by spontaneous pneumothorax, as well as fibrofolliculomas of the skin and increased risk of renal and colonic tumors. Gunji et al. (2007) suggested that isolated primary spontaneous pneumothorax associated ...
Clinical Description OMIM Brock (1948) observed recurrent and chronic spontaneous pneumothorax and suggested that hereditary lung cysts were the anatomic substrate. Berlin (1950) and Boyd (1957) observed familial occurrence of spontaneous pneumothorax in patients without other stigmata of connective tissue disease. ...
Molecular genetics OMIM In affected members of a large Finnish family with autosomal dominant spontaneous pneumothorax, Painter et al. (2005) identified a heterozygous 4-bp deletion in the FLCN gene (607273.0009). All carriers of the deletion had bullous lung lesions as the ...