Disease #03347

Official abbreviation AATD
Name alpha-1-antitrypsin deficiency (AATD)
OMIM ID 613490
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 103
Phenotype entries for this disease 103
Associated with 1 gene SERPINA1
Associated tissues -
Disease features -
Remarks -


Individuals

103 entries on 2 pages. Showing entries 1 - 100.
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00046846 - PubMed: Curiel 1989, Journal: Curiel 1989 2-generation family, 3 affected sisters, heterozygous carrier parents/sibs F no United States - - 0 - - AATD see paper; ..., data from 2 affected sisters reported SERPINA1 SERPINA1 2 1 Johan den Dunnen
00049072 - PubMed: Holmes 1990 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049073 - PubMed: Graham 1989 - - - - - - 0 - - AATD n/a; affected organ: Not available SERPINA1 SERPINA1 1 1 George Patrinos
00049074 - PubMed: 14985567 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049075 - PubMed: Curiel 1989 - - - - - - 0 - - AATD intra-cellular accumulation; affected organ: Lung and liver SERPINA1 SERPINA1 2 1 George Patrinos
00049076 - PubMed: Nukiwa 1987 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: Lung SERPINA1 SERPINA1 2 1 George Patrinos
00049077 - PubMed: Seyama 1991 - - - - - - 0 - - AATD intra-cellular accumulation; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049078 - PubMed: Constans 1980 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049079 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049080 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049081 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049082 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049083 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049084 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049085 - PubMed: Takahashi 1988 - - - - - - 0 - - AATD n/a; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049086 - PubMed: Curiel 1990 - - - - - - 0 - - AATD intra-cellular degradation; affected organ: Lung SERPINA1 SERPINA1 2 1 George Patrinos
00049087 - PubMed: Faber 1994 - - - - - - 0 - - AATD n/a; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049088 - PubMed: Matsunaga 1990 - - - - - - 0 - - AATD n/a; affected organ: Not available SERPINA1 SERPINA1 2 1 George Patrinos
00049089 - PubMed: Fraizer 1990 - - - - - - 0 - - AATD altered intra-cellular tertiary structure; affected organ: Lung and liver SERPINA1 SERPINA1 1 1 George Patrinos
00049090 - PubMed: Faber 1994 - - - - - - 0 - - AATD n/a; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049091 - PubMed: Graham 1990 - - - - - - 0 - - AATD n/a; affected organ: Lung and liver SERPINA1 SERPINA1 1 1 George Patrinos
00049092 - PubMed: 14639110 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049093 - PubMed: 12935698 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049094 - PubMed: Lovegrove 1997 - - - - - - 0 - - AATD disrupted glycosyliation at N83; affected organ: Not available SERPINA1 SERPINA1 1 1 George Patrinos
00049095 - PubMed: Graham 1990 - - - - - - 0 - - AATD intra-cellular accumulation; affected organ: Lung and liver SERPINA1 SERPINA1 1 1 George Patrinos
00049096 - PubMed: 14985567 - - - - - - 0 - - AATD intra-cellular degradation; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049097 - PubMed: Crystal - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049098 - PubMed: 9635295 - - - - - - 0 - - AATD ; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049099 - PubMed: Satoh 1988 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049100 - PubMed: Okayama 1991 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049101 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 3 1 George Patrinos
00049102 - PubMed: 12935698 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 3 1 George Patrinos
00049103 - PubMed: Holms 1990 - - - - - - 0 - - AATD n/a; affected organ: Not available SERPINA1 SERPINA1 1 1 George Patrinos
00049104 - PubMed: 15905697 - - - - - - 0 - - AATD intra-cellular degradation; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049105 - PubMed: 14985567 - - - - - - 0 - - AATD intra-cellular accumulation; affected organ: Lung SERPINA1 SERPINA1 3 1 George Patrinos
00049106 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049107 - PubMed: Weidinger 1985 - - - - - - 0 - - AATD intra-cellular accumulation; affected organ: Lung SERPINA1 SERPINA1 3 1 George Patrinos
00049108 - PubMed: 10878477 - - - - - - 0 - - AATD n/a; affected organ: Not available SERPINA1 SERPINA1 1 1 George Patrinos
00049109 - PubMed: 14985567 - - - - - - 0 - - AATD intra-cellular accumulation; affected organ: Lung and liver SERPINA1 SERPINA1 2 1 George Patrinos
00049110 - PubMed: Holmes 1990 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049111 - PubMed: 14985567 - - - - - - 0 - - AATD Antithrombin 3 activity; affected organ: Bleeding diathesis SERPINA1 SERPINA1 1 1 George Patrinos
00049112 - PubMed: Holmes 1990 - - - - - - 0 - - AATD intra-cellular degradation; affected organ: Lung SERPINA1 SERPINA1 2 1 George Patrinos
00049113 - PubMed: 9070606 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049114 - PubMed: Faber 1994 - - - - - - 0 - - AATD intra-cellular degradation; affected organ: Lung SERPINA1 SERPINA1 2 1 George Patrinos
00049115 - PubMed: Fraizer 1989 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049116 - PubMed: 9070606 - - - - - - 0 - - AATD intra-cellular degradation; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049117 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049118 - PubMed: Faber 1994 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049119 - PubMed: 14985567 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049120 - PubMed: 14985567 - - - - - - 0 - - AATD n/a; affected organ: Lung SERPINA1 SERPINA1 2 1 George Patrinos
00049121 - PubMed: 12935698 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049122 - PubMed: 12935698 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 2 1 George Patrinos
00049123 - PubMed: Seixas 2002 - - - - - - 0 - - AATD intra-cellular degradation; affected organ: Lung SERPINA1 SERPINA1 2 1 George Patrinos
00049124 - PubMed: 8364590 - - - - - - 0 - - AATD n/a; affected organ: Lung and liver SERPINA1 SERPINA1 2 1 George Patrinos
00049125 - PubMed: Nukiwa - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 2 1 George Patrinos
00049128 - PubMed: Jardi 1998 - - - - - - 0 - - AATD n/a; affected organ: Lung SERPINA1 SERPINA1 2 1 George Patrinos
00049129 - PubMed: Holms 1990 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: Lung SERPINA1 SERPINA1 2 1 George Patrinos
00049130 - PubMed: Seixas 2002 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049131 - PubMed: Laubach 1993 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049134 - PubMed: 69822187 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: Lung SERPINA1 SERPINA1 1 1 George Patrinos
00049135 - PubMed: 69822187 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: Not available SERPINA1 SERPINA1 1 1 George Patrinos
00049136 - PubMed: Weidinger 1985 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049137 - PubMed: Cox 1989 - - - - - - 0 - - AATD intra-cellular accumulation; affected organ: Lung and liver SERPINA1 SERPINA1 1 1 George Patrinos
00049138 - PubMed: Cox 1989 - - - - - - 0 - - AATD n/a; affected organ: Liver SERPINA1 SERPINA1 1 1 George Patrinos
00049139 - PubMed: Vandeville 1974 - - - - - - 0 - - AATD n/a; affected organ: Not available SERPINA1 SERPINA1 1 1 George Patrinos
00049140 - PubMed: 311584 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049141 - PubMed: Martin 1973 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049142 - PubMed: 69822187 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049143 - PubMed: 69822187 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049144 - PubMed: Pierce 1981 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049145 - PubMed: Cox 1981 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049146 - PubMed: Cox 1981 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049147 - PubMed: Cox 1981 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049148 - PubMed: Cox 1981 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049149 - PubMed: Sebetan 1992 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049150 - PubMed: Dunn 1986 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049151 - PubMed: Chaabani 1984 - - - - - - 0 - - AATD n/a; affected organ: Not available SERPINA1 SERPINA1 1 1 George Patrinos
00049152 - PubMed: Sesboüé 1984 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049153 - PubMed: Sesboüé 1984 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049154 - PubMed: Sesboüé 1984 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049155 - PubMed: Ying 1984 - - - - - - 0 - - AATD n/a; affected organ: Not available SERPINA1 SERPINA1 1 1 George Patrinos
00049156 - PubMed: Ying 1984 - - - - - - 0 - - AATD n/a; affected organ: Not available SERPINA1 SERPINA1 1 1 George Patrinos
00049157 - PubMed: Mulley 1983 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049158 - PubMed: Klasen 1985 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049159 - PubMed: Yuasa 1985 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049160 - PubMed: Hug 1980 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049161 - PubMed: Hug 1980 - - - - - - 0 - - AATD no intra-cellular abnormalities; affected organ: None SERPINA1 SERPINA1 1 1 George Patrinos
00049162 - PubMed: Crystal - - - - - - 0 - - AATD n/a; affected organ: Not available SERPINA1 SERPINA1 1 1 George Patrinos
00049163 - PubMed: Zorzetto 2008 - - - - - - 0 - - AATD - SERPINA1 SERPINA1 1 1 George Patrinos
00049164 - PubMed: Zorzetto 2008 - - - - - - 0 - - AATD - SERPINA1 SERPINA1 1 1 George Patrinos
00049165 - PubMed: Zorzetto 2008 - - - - - - 0 - - AATD - SERPINA1 SERPINA1 1 1 George Patrinos
00049166 - PubMed: Mahadeva 2000 - - - - - - 0 - - AATD - SERPINA1 SERPINA1 1 1 George Patrinos
00049167 - PubMed: Zorzetto 2008 - - - - - - 0 - - AATD - SERPINA1 SERPINA1 1 1 George Patrinos
00049168 - PubMed: Matsunaga 1990 - - - - - - 0 - - AATD - SERPINA1 SERPINA1 1 1 George Patrinos
00049169 - PubMed: Prins 2008 - - - - - - 0 - - AATD - SERPINA1 SERPINA1 1 1 George Patrinos
00049170 - PubMed: Chappell 2006 - - - - - - 0 - - AATD - SERPINA1 SERPINA1 1 1 George Patrinos
00049171 - PubMed: Chappell 2006 - - - - - - 0 - - AATD - SERPINA1 SERPINA1 1 1 George Patrinos
00049175 - PubMed: Prins 2008 - - - - - - 0 - - AATD - SERPINA1 SERPINA1 1 1 George Patrinos
00049176 - PubMed: Kanazawa 2009 - - - - - - 0 - - AATD - SERPINA1 SERPINA1 1 1 George Patrinos
00049177 - PubMed: Sifers 1988 - - - - - - 0 - - AATD - SERPINA1 SERPINA1 1 1 George Patrinos
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