Entry - 130700 - EMPHYSEMA, HEREDITARY PULMONARY - OMIM

 
ICD+
130700

EMPHYSEMA, HEREDITARY PULMONARY


Clinical Synopsis
 

Pulmonary
- Chronic obstructive pulmonary disease
- Emphysema
- Chronic bronchitis
Inheritance
- Familial factors over and above alpha1-antitrypsin
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TEXT

▼ Clinical Features

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 James Jackson, Jr. (1810-1834), son of one of the founders of the New England Journal of Medicine, discovered the familial factor in emphysema while studying with Louis in Paris. Jackson observed that 18 of 28 patients with pulmonary emphysema had at least 1 parent with the disease. Familial factors over and above alpha-1-antitrypsin deficiency (613490) are likely.


▼ REFERENCES

  1. Hole, B. V., Wasserman, K. Familial emphysema. Ann. Intern. Med. 63: 1009-1017, 1965. [PubMed: 5844559, related citations] [Full Text]

  2. Knudson, R. J. Familial emphysema discovered by James Jackson, Jr. (Letter) New Eng. J. Med. 300: 374 only, 1979. [PubMed: 366412, related citations] [Full Text]

  3. Larson, R. K., Barman, M. L. The familial occurrence of chronic obstructive pulmonary disease. Ann. Intern. Med. 63: 1001-1008, 1965. [PubMed: 5844558, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
joanna : 08/17/2010
terry : 4/23/2002
mimadm : 9/24/1994
warfield : 4/6/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988

130700

EMPHYSEMA, HEREDITARY PULMONARY


DO: 9675;  



TEXT

Clinical Features

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 James Jackson, Jr. (1810-1834), son of one of the founders of the New England Journal of Medicine, discovered the familial factor in emphysema while studying with Louis in Paris. Jackson observed that 18 of 28 patients with pulmonary emphysema had at least 1 parent with the disease. Familial factors over and above alpha-1-antitrypsin deficiency (613490) are likely.


REFERENCES

  1. Hole, B. V., Wasserman, K. Familial emphysema. Ann. Intern. Med. 63: 1009-1017, 1965. [PubMed: 5844559] [Full Text: https://doi.org/10.7326/0003-4819-63-6-1009]

  2. Knudson, R. J. Familial emphysema discovered by James Jackson, Jr. (Letter) New Eng. J. Med. 300: 374 only, 1979. [PubMed: 366412] [Full Text: https://doi.org/10.1056/NEJM197902153000733]

  3. Larson, R. K., Barman, M. L. The familial occurrence of chronic obstructive pulmonary disease. Ann. Intern. Med. 63: 1001-1008, 1965. [PubMed: 5844558] [Full Text: https://doi.org/10.7326/0003-4819-63-6-1001]


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
joanna : 08/17/2010
terry : 4/23/2002
mimadm : 9/24/1994
warfield : 4/6/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: April 24, 2024