EMPHYSEMA, HEREDITARY PULMONARY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr:
OMIM Id: 130700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004469) Chronic bronchitis 17 / 7739
2
(HPO:0006510) Chronic obstructive pulmonary disease 19 / 7739
3
(HPO:0002097) Emphysema 40 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Larson and Barman (1965) described 2 kindreds, and Hole and Wasserman (1965) reported one, with multiple cases of chronic obstructive pulmonary disease (emphysema, chronic bronchitis, or both). A correlation with smoking was suggested. Knudson (1979) pointed out that ...