Interstitial lung disease 2

Preferred Label : Interstitial lung disease 2;

Symbol : ILD2;

CISMeF acronym : IPF; UIP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Idiopathic pulmonary fibrosis, familial; Fibrosing alveolitis, cryptogenic; Fibrocystic pulmonary dysplasia; Interstitial pneumonitis, usual; UIP; IPF; Pulmonary fibrosis, idiopathic;

Included titles and symbols : Hamman-rich disease;

Description : Idiopathic pulmonary fibrosis is one of a family of idiopathic pneumonias sharing clinical features of shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees in inflammation, fibrosis, or both on lung biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. Although older studies included several forms of interstitial pneumonia under the term 'idiopathic pulmonary fibrosis,' the clinical label of 'pulmonary pulmonary fibrosis' should be reserved for patients with a specific form of fibrosing interstitial pneumonia referred to as usual interstitial pneumonia (Gross and Hunninghake, 2001). It is estimated that 0.5 to 2.2% of cases of idiopathic pulmonary fibrosis are familial (Marshall et al., 2000). Pulmonary fibrosis can also be a feature in patients with mutations in the TERT (187270) or the TERC (602322) gene; see PFBMFT1 (614742) and;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the pulmonary-associated surfactant protein A2 gene (SFTPA2, 178642.0001);

Neoplasia : Alveolar cell carcinoma (some); Bronchogenic carcinoma (some); Adenocarcinoma of lung (some);

Prefixed ID : #178500;

Details

Origin ID

178500;

UMLS CUI

C5561926;

Automatic exact mappings (from CISMeF team)
- Chronic idiopathic pulmonary fibrosis (disorder) [SNOMED CT concept]
- Idiopathic fibrosing alveolitis, chronic form (disorder) [Inactive SNOMED CT concept]
- Immature Platelets to Total Platelets Ratio Measurement [NCIt concept]
- NCI Unconventional Innovations Program [NCIt concept]
- Other interstitial pulmonary diseases with fibrosis [ICD-10 Sub-category (who)]
- Usual Interstitial Pneumonia [NCIt concept]
- acute interstitial pneumonia [DO Concept]
- idiopathic interstitial pneumonia [DO Concept]
Currated CISMeF NLP mapping
- Abnormal pulmonary interstitial morphology [HPO term]
- Cryptogenic fibrosing alveolitis [MedDRA LLT]
- Diffuse interstitial pulmonary fibrosis (disorder) [SNOMED CT concept]
- Familial idiopathic pulmonary fibrosis (disorder) [SNOMED CT concept]
- Fibrosing alveolitis [MedDRA LLT]
- Idiopathic Pulmonary Fibrosis [NCIt concept]
- Idiopathic pulmonary fibrosis [ICD-11 Subcategory]
- Idiopathic pulmonary fibrosis [ICD-9 code]
- Idiopathic pulmonary fibrosis [MedDRA Preferred Term]
- Idiopathic pulmonary fibrosis [ORDO Disease]
- Idiopathic pulmonary fibrosis (disorder) [SNOMED CT concept]
- idiopathic pulmonary fibrosis [DO Concept]
- idiopathic pulmonary fibrosis [Disease (Nov.)]
- idiopathic pulmonary fibrosis [MeSH concept]
- idiopathic pulmonary fibrosis [Radlex concept]
- pulmonary fibrosis [MedlinePlus Topic]
DO Cross reference
- idiopathic pulmonary fibrosis [DO Concept]
Genes related to phenotype
- Mucin 5, subtype b, tracheobronchial [OMIM gene]
- Surfactant, pulmonary-associated protein a2 [OMIM gene]
HPO term(s)
- Alveolar cell carcinoma [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cirrhosis [HPO term]
- Clubbing of fingers [HPO term]
- Cough [HPO term]
- Decreased DLCO [HPO term]
- Dyspnea [HPO term]
- Elevated bronchoalveolar lavage fluid neutrophil proportion [HPO term]
- Exertional dyspnea [HPO term]
- Increased alveolar cell carcinoma [HPO term]
- Increased circulating antibody level [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary fibrosis [HPO term]
- Usual interstitial pneumonia [HPO term]
ORDO concept(s)
- Acute interstitial pneumonia [ORDO Disease]
- Idiopathic pulmonary fibrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALVEOLITIS FIBROSING [WHO-ART Preferred Term]
- Alveolitis fibrosing [MedDRA LLT]
- Cryptogenic fibrosing alveolitis [MedDRA LLT]
- Familial idiopathic pulmonary fibrosis (disorder) [SNOMED CT concept]
- Fibrosing alveolitis [MedDRA LLT]
- Fibrosing alveolitis (idiopathic) [MedDRA LLT]
- Idiopathic Pulmonary Fibrosis [NCIt concept]
- Idiopathic fibrosing alveolitis, chronic form (disorder) [Inactive SNOMED CT concept]
- Idiopathic pulmonary fibrosis [MedDRA Preferred Term]
- Idiopathic pulmonary fibrosis [ORDO Disease]
- Idiopathic pulmonary fibrosis [ICD-9 code]
- Idiopathic pulmonary fibrosis (disorder) [SNOMED CT concept]
- Usual Interstitial Pneumonia [NCIt concept]
- idiopathic pulmonary fibrosis [MeSH Descriptor]
- idiopathic pulmonary fibrosis [MeSH concept]
- idiopathic pulmonary fibrosis [DO Concept]
- idiopathic pulmonary fibrosis [Disease (Nov.)]
- idiopathic pulmonary fibrosis [Radlex concept]
Validated automatic mappings to NTBT
- idiopathic pulmonary fibrosis [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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