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Clinical AreaPneumology
Associated diseases
- [Pleuro]pulmonary blastoma
- Alveolar proteinoses, differential diagnosis
- Arterial-Tortuosity syndrome, differential diagnosis
- Birt-Hogg-Dubé syndrome, differential diagnosis
- Bronchiectases, differential diagnosis
- Cystic fibrosis - full sequence
- Cystic fibrosis, most frequent mutations
- Cystische Fibrose, Differentialdiagnose
- Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome, differential diagnosis
- Hermansky-Pudlak syndrome, differential diagnosis
- Heterotaxy - Situs inversus, differential diagnosis
- Hypertension, pulmonary; differential diagnosis
- Hypoventilation syndrome, central; differential diagnosis
- Kartagener syndrome/primary ciliary dyskinesia, differential diagnosis
- Lung cancer, NSCLC; susceptibility + protection
- Lung cancer, SCLC; susceptibility + protection
- Lungenkarzinom, Adeno-Ca; Suszeptibilität + Protektion
- Lupus [erythematosus], "monogenic"; differential diagnosis
- Lupus erythematodes, susceptibility
- Lysinuric protein intolerance, differential diagnosis
- Morbus Niemann-Pick type C, differential diagnosis
- Myhre syndrome, differential diagnosis
- Perry syndrome, differential diagnosis
- Pneumothorax, familial; differential diagnosis
- Pulmonal surfactant protein anomaly, differential diagnosis
- Pulmonary fibrosis, idiopathic familial; differential diagnosis
- Pulmonary veno-occlusive disorder 1+2, differential diagnosis
- Smith-Lemli-Opitz syndrome
- Smith-Lemli-Opitz syndrome, differential diagnosis
- Stüve-Wiedemann syndrome
- Sudden death [<40 years of age], differential diagnosis
Notes on the clinical area
Here you will find the disease-related gene panels available for the clinical area specified above.
If you cannot find the disease you are looking for, please use a known synonym in the search (also in English).
Pulmogenetics
The hereditary causes of pulmonological diseases are clarified by means of molecular genetic diagnostics. The aim here is to detect deviations from the reference genome ("wild type") and then, if necessary, to differentiate between neutral variants and pathogenic mutations that are important for the physiological development and undisturbed functioning of the nervous system. The inheritance patterns of pulmogenetic diseases are the basis of genetic counselling for patients, persons at risk and affected families.
Over the past 30 years, several genes have been characterized which cause genetic lung diseases or contribute to the development of a wide variety of conditions. Current results of genetic research have a direct impact on the diagnostic procedure in the laboratory and genetic counselling. For example, mutations in independent genes on different chromosomes can cause clinically indistinguishable forms of disease. On the other hand, different mutations in one and the same gene, which codes for a protein, lead to clinically apparently separate disease entities.
Formal genetics and etiology
Formal genetically and etiologically the following groups of pulmogenetic diseases can be distinguished:
- monogenic diseases (autosomal or X-chromosomal inheritance)
- mitochondrial diseases (maternal or autosomal inheritance)
- multifactorial diseases (interaction of several to many genes plus environmental factors)
Congenital malformations
Congenital malformations of the lungs and bronchi often appear sporadically - is there a genetic (co-)cause? Several bronchopulmonary diseases are proven to be based on genetic changes and lead to disorders in the proteins that build up the lungs and bronchi. DNA diagnostics therefore often involves a step-by-step procedure in which the most frequent mutations are first tested before the very rare genetic causes are also identified in parallel approaches using expanded and cost-intensive panel procedures. Mutations found or all variants with unclear significance (VUS) are verified by DNA sequence analysis using the Sanger technique. Some groups of diseases are listed below.
Genetically (co-)determined lung diseases
Malignant neoplasms of the bronchial tubes or lungs are among the most common forms of cancer in both sexes today. The most important risk factor is smoking. Small cell (SCLC) can be distinguished from non-small cell lung carcinomas (NSCLC). For both forms of SCLC and NSCLC, panels are available for susceptibility genes as well as for analyses of somatic mutations and/or protective gene variations. For diagnostic questions the individual gene panels can be used separately or in combination. For monogenic lung diseases such as alveolar proteinosis, familial idiopathic fibrosis, pulmonary blastoma, pulmonary veno-occlusive disease and pulmonary hypertension etc., single gene diagnostics or, in case of genetic heterogeneity, extensive panels are offered as required.