Pneumothorax, primary spontaneous

Preferred Label : Pneumothorax, primary spontaneous;

Symbol : PSP;

CISMeF acronym : PSP;

Type : Phenotype, molecular basis known;

Description : 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 with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance. Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (154700) and the Ehlers-Danlos syndrome (see, e.g., 130000). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (613490).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the folliculin gene (FLCN, 607273.0009);

Prefixed ID : #173600;

Details

Origin ID

173600;

UMLS CUI

C1868193;

Automatic exact mappings (from CISMeF team)
- CHGA wt Allele [NCIt concept]
- Chromogranin-A [NCIt concept]
- Familial spontaneous pneumothorax [ICD-11 More detail]
- Lithostathine-1-Alpha [NCIt concept]
- MSMB wt Allele [NCIt concept]
- PSPN wt Allele [NCIt concept]
- Persephin [NCIt concept]
- Primary spontaneous pneumothorax [ICD-9 code]
- Progressive supranuclear ophthalmoplegia (disorder) [SNOMED CT concept]
- Progressive supranuclear palsy [ORDO Disease]
- REG1A wt Allele [NCIt concept]
- Regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein) [ORDO Gene]
- microseminoprotein beta [ORDO Gene]
- pneumothorax [MeSH Descriptor]
- primary spontaneous pneumothorax [DO Concept]
- progressive supranuclear palsy [MedlinePlus Topic]
- supranuclear palsy, progressive [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial spontaneous pneumothorax [ORDO Disease]
- Familial spontaneous pneumothorax (disorder) [SNOMED CT concept]
- Primary spontaneous pneumothorax [MedDRA LLT]
- pneumothorax, primary spontaneous [MeSH concept]
- primary spontaneous pneumothorax [Disease (Nov.)]
DO Cross reference
- primary spontaneous pneumothorax [DO Concept]
Genes related to phenotype
- Folliculin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Incomplete penetrance [HPO term]
- Spontaneous pneumothorax [HPO term]
ORDO concept(s)
- Familial spontaneous pneumothorax [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial spontaneous pneumothorax [ORDO Disease]
- Primary spontaneous pneumothorax [MedDRA LLT]
- Primary spontaneous pneumothorax [ICD-9 code]
- pneumothorax, primary spontaneous [MeSH concept]
- primary spontaneous pneumothorax [Disease (Nov.)]

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