Asthma

Basic details

Preferred term: Asthma
Alt. terms: Reactive airway disease (RAD) | Bronchial asthma | hyperreactive airway disease (HRA)

HPO term: Asthma
HPO code: HP:0002099

GenIA ID: 94
Last updated on: 2021-12-10 17:55:48

Cross ref. with other ontologies

NCIT: C28397
MESH: D001249
EFO: -
OAE: -
SNOMEDCT: -
ICD10: J45

Description

Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.

Hierarchical classification

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101017 F 210232 34 German obstructive lung disease PMID:34975878 [Fam.F003:P003]
101049 F 210205tree icon - Caucasian Asthma CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:III.15(A.III.5)]; PMID:29729943 [Fam.A:III.15(A.III.5 (10))]
101063 M 210118 - German Asthma PMID:34975878 [Fam.F411:P411]; PMID:34390440 [CMC01]
101067 M 211264 7 Asthma PMID:34975878 [Fam.F036:P036]
101085 F 210196 37 Asthma PMID:34975878 [Fam.F051:P051]
101129 F 210906 26 German Asthma PMID:34975878 [Fam.F078:P078]
101195 F 212379 - Egyptian Asthma Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES19]
101260 M 212144 7 Iranian obstructive lung disease Immunodeficiency, common variable, 8 PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14]
101356 F 210135 2 Arab Asthma Immunodeficiency, common variable, 8 PMID:22608502 [Fam.A:II.4(P2)]; PMID:26707784 [P2]
101375 F 212162 13 Iranian Asthma Immunodeficiency, common variable, 8 PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8]
101403 M 210189tree icon 7 German Asthma Adenosine deaminase 2 deficiency PMID:28493328 [P3]; PMID:26922074 [Index(II.2)]
101426 M 212173 1 Iranian Asthma Immunodeficiency, common variable, 8 PMID:29528757 [Case 2]; PMID:26707784 [Fam.E:IV.2(P28)]; PMID:26993986 [Fam.F17:II.1(1)]; PMID:28512785 [P7]
101527 M 210728 - Asthma PMID:34975878 [Fam.F175:P175]
101591 M 212604tree icon 6 Scottish Asthma ARPC1B deficiency PMID:28368018 [Fam.2:II.2(P3)]; PMID:30771411 [Fam.P10:II.2(P11)]; PMID:34673575 [Fam.2:II.2(P3)]
101635 F 211154 44 German Asthma Severe combined immunodeficiency due to adenosine deaminase deficiency PMID:34975878 [Fam.F221:P221]
101651 M 210939 28 Asthma PMID:34975878 [Fam.F226:P226]
101652 M 212629tree icon - Nepalese Asthma ARPC1B deficiency PMID:30771411 [P4(II.1)]
101690 F 212636tree icon - Jordanian Asthma ARPC1B deficiency PMID:30771411 [P13(IV.5)]
101740 M 210300tree icon 1 North American Asthma Immunodeficiency, common variable, 15 PMID:28782633 [Fam.I:III.13(P9)]
101774 M 210908tree icon - Argentinian Asthma Adenosine deaminase 2 deficiency PMID:28493328 [P9(II.1)]
101795 M 211075 - Asthma Immunodeficiency, common variable, 10 PMID:30941118 [Fam.981:II.5(Pt#28)]
101801 M 211151 7 Asthma CTLA4 haploinsufficiency with autoimmune infiltration PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20]
101802 F 211221tree icon 13 German Asthma NFKB1 insufficiency PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)]
101922 F 211937 - Asthma PMID:34975878 [Fam.F342:P342]
101946 F 211943 26 Asthma Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F406:P406]
101975 F 214053tree icon - Turkish Asthma Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case]
102052 M 214264 - Asthma Hyper-IgE recurrent infection syndrome 1 PMID:34390440 [HIES37]
102090 M 214309 - Asthma Immunodeficiency 58 PMID:34390440 [HIES29]
102121 M 214345 - Egyptian Asthma Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES16]
102170 M 214849 - South Korean Asthma Atopic dermatitis 2 | Ichthyosis vulgaris PMID:25997159 [AD48]; PMID:25997159 [AD48]
102222 M 214917 62 German obstructive lung disease NFKB1 insufficiency PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C]
102250 M 214924tree icon 1 Afghanistani Asthma ARPC1B deficiency PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7]
102423 M 214949tree icon - French/Greek Asthma Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.A:I.2(P1)]
102427 M 214950tree icon 4 French Asthma Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.B:II.3(P5)]
102436 F 214956tree icon - Bulgarian Asthma Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.C:III.1(P7)]
102439 M 214956tree icon - Bulgarian Asthma Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.C:II.2(P6)]
102444 M 214957tree icon - Slovak Asthma Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.D:II.3(P8)]
102449 F 214958tree icon - Mexican/Salvadoran Asthma Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.E:II.1(P9)]
102460 M 214960tree icon 0 European Asthma Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.G:II.1(P11)]
102463 M 214961tree icon 0 European Asthma Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.H:II.1(P12)]
102466 M 214962tree icon 9 Polish Asthma Immunodeficiency 94 PMID:33517393 [Patient(III.7)]
102474 M 214963tree icon - Admixed Asthma Hyper-IgE recurrent infection syndrome 4B PMID:33771552 [Patient(II.1)]
102719 F 214981tree icon 0 Canadian Asthma Autoinflammation, immune dysregulation, and eosinophilia PMID:28111307 [Fam.1:II.2(Patient)]; PMID:36546480 [Fam.1:II.2(II-2)]
102729 M 214981tree icon 0,- Canadian Asthma,obstructive lung disease Autoinflammation, immune dysregulation, and eosinophilia PMID:28111307 [Fam.1:III.1]; PMID:36546480 [Fam.1:III.1(III-1)]
102730 M 214981tree icon 0 Canadian Asthma Autoinflammation, immune dysregulation, and eosinophilia PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)]
102735 F 214983tree icon - North American Asthma Autoinflammation, immune dysregulation, and eosinophilia PMID:32750333 [Patient(II.2)]
102803 F 214991tree icon 10 North American Asthma Immunodeficiency 8 PMID:25073507 [P1(II.2)]
102804 M 214991tree icon 7 North American Asthma Immunodeficiency 8 PMID:25073507 [Fam.P1:II.1(P2)]
102984 F 215074tree icon 9 European/American obstructive lung disease Immunodeficiency 97 PMID:31554793 [A.1(II.1)]
103044 M 215094 - Swedish Asthma Hyper-IgE recurrent infection syndrome 1 PMID:18706697 [Fam.9:SW]
103877 F 215266tree icon 1 Finnish Asthma Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2]
103880 F 215269tree icon - Finnish Asthma Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)]
104053 M 215329 - Asthma Hyper-IgE recurrent infection syndrome 1 PMID:19891924 [Patient]
104158 M 215393tree icon - Australian Asthma Hyper-IgE recurrent infection syndrome 1 PMID:34137790 [Fam.B:II.2(P2)]
104268 M 215444tree icon - Ashkenazi Jewish obstructive lung disease Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28153428 [Patient(II.2)]
104352 F 215491 - Caucasian Asthma Hyper-IgE recurrent infection syndrome 1 PMID:26292779 [H2]
104392 F 215520tree icon - French Asthma Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36122175 [Patient]
104403 M 215524tree icon 3 Asian Asthma Early-onset atopic inflammation PMID:36216080 [Index(III.1)]
104410 M 215525tree icon - Japanese Asthma Early-onset atopic inflammation PMID:36538978 [Patient(II.2)]
104438 F 215527tree icon 2 Middle Eastern Asthma Early-onset atopic inflammation PMID:36884218 [Fam.A:II.1(P1)]
104444 F 215528tree icon 2 Spanish Asthma Early-onset atopic inflammation PMID:36884218 [Fam.B:II.2(P2)]
104453 F 215530tree icon 2 European Asthma Early-onset atopic inflammation PMID:36884218 [Fam.D:II.1(P5)]
104458 M 215531tree icon 0 East Asian Asthma Early-onset atopic inflammation PMID:36884218 [Fam.E:II.1(P6)]
104461 M 215532tree icon 4 European Asthma Early-onset atopic inflammation PMID:36884218 [Fam.F:II.1(P8)]; PMID:37316763 [Patient(II.1)]
104462 F 215532tree icon 5 European Asthma Early-onset atopic inflammation PMID:36884218 [Fam.F:I.1(P7)]; PMID:37316763 [Fam.Patient:I.2(mother)]
104464 M 215532tree icon 3 European Asthma Early-onset atopic inflammation PMID:36884218 [Fam.F:II.2(P9)]; PMID:37316763 [Fam.Patient:II.2(brother)]
104465 M 215533tree icon - Asthma Early-onset atopic inflammation PMID:36884218 [Fam.G:II.1(P10)]
104477 M 215535tree icon 0 SouthEast Asian Asthma Early-onset atopic inflammation PMID:36884218 [Fam.I:II.2(P12)]
104481 M 215536tree icon 1 Caucasian Asthma Early-onset atopic inflammation PMID:36884218 [Fam.J:IV.2(P14)]
104488 F 215536tree icon 1 Caucasian Asthma Early-onset atopic inflammation PMID:36884218 [Fam.J:III.2(P13)]
104492 F 215536tree icon 1,1 Caucasian Asthma,obstructive lung disease Early-onset atopic inflammation PMID:36884218 [Fam.J:IV.4(P16)]
104521 F 215538 - Gypsy Asthma ARPC1B deficiency PMID:31379835 [P3]
104733 F 215572tree icon - French Asthma Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:II.16]
104748 F 215572tree icon - French Asthma Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:III.13]
104797 M 215577tree icon - Atopy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)]
104962 F 215622tree icon - Dutch Asthma NFKB1 insufficiency PMID:32278790 [Fam.NA:III.3(III.3)]; PMID:26279205 [Fam.NL1:III.4(25)]; PMID:29403474 [Fam.NL1 (5):III.4(25)]; PMID:11583829 [Fam.1:III.3(III:3)]; PMID:16639407 [Fam.1:III.4(25)]; PMID:150198 [Fam.AA:III.4(030)]
105028 F 215627 - French Asthma Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30299506 [Patient]; PMID:32392079 [P2]; PMID:35677041 [Pt10]
105143 F 215650 60 German Asthma NFKB1 insufficiency PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005]
105225 F 215671tree icon 31 Finnish Asthma NFKB1 insufficiency PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)]
105231 M 215671tree icon 10 Finnish Asthma NFKB1 insufficiency PMID:32278790 [Fam.F2:III.2(III.2)]; PMID:29403474 [Fam.2 (9):III.2(F2.III-2)]; PMID:28115215 [Fam.2:III.2(F2.III-2)]; PMID:150198 [Fam.AR:III.2(193)]; PMID:36356849 [Fam.5:III.2(F5:III:2)]
105237 M 215672tree icon 66 Finnish Asthma NFKB1 insufficiency PMID:32278790 [Fam.F3:II.4(II.4)]; PMID:28115215 [Fam.3:II.4(F3.II-4)]; PMID:150198 [Fam.AS:II.7(202)]; PMID:36356849 [Fam.3:II.7(F3:II:7)]; PMID:36892687 [II:4(II.4)]; PMID:38593810 [Fam.1:II.7(F1.II-4)]
105239 F 215672tree icon 42 Finnish Asthma NFKB1 insufficiency PMID:32278790 [Fam.F3:II.8(II.6)]; PMID:28115215 [Fam.3:II.6(F3.II-6)]; PMID:150198 [Fam.AS:II.14(209)]; PMID:36356849 [Fam.3:II.14(F3:II:14)]; PMID:36892687 [II:7(II.7)]; PMID:38593810 [Fam.1:II.13(F1.II-7)]
105308 F 215687tree icon - European Asthma NFKB1 insufficiency PMID:32278790 [Fam.D:II.2(II.2)]; PMID:29477724 [Fam.D:II.2(II:2)]; PMID:150198 [Fam.AX:II.2(260)]
105317 M 215692tree icon - European Asthma NFKB1 insufficiency PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)]
105433 F 215768tree icon - Danish Atopy NFKB1 insufficiency PMID:32278790 [AQ.I.1]; PMID:150198 [Fam.BX:II.2(359)]; PMID:32047491 [P2(I.1)]; PMID:36105815 [N323Y]
105465 M 215772tree icon - Russian Asthma NFKB1 insufficiency PMID:150198 [Fam.BS:II.1(319)]; PMID:31803180 [Fam.B:II.1(S3)]
105466 M 215772tree icon - Russian Asthma NFKB1 insufficiency PMID:150198 [Fam.BS:II.2(320)]; PMID:31803180 [Fam.B:II.2(S4)]
105659 F 215836 - Asthma Activated p110-delta syndrome 1 PMID:26437962 [Fam.A:II.2(Sibling 2)]
105694 F 215842tree icon 20 German Asthma NFKB1 insufficiency PMID:32278790 [Fam.Y:II.1(Y.II.1)]; PMID:150198 [Fam.CG:II.1(423)]
105767 M 211008tree icon - Caucasian Asthma NFKB1 insufficiency PMID:32278790 [Fam.BS:I.1(I.1)]; PMID:150198 [Fam.DD:I.1(455)]; PMID:36105815 [Fam.M216V:I.1(M216V/2)]
105911 F 215906tree icon - French Asthma Hyper-IgE recurrent infection syndrome 4A PMID:37273120 [Fam.A:III.1(P2)]
105918 F 215908tree icon 30 Moroccan Asthma Hyper-IgE recurrent infection syndrome 4A PMID:37273120 [Fam.B:I.1(P3)]
105921 F 215908tree icon - Moroccan Asthma Hyper-IgE recurrent infection syndrome 4A PMID:37273120 [Fam.B:II.2(P5)]
105924 F 215908tree icon - Moroccan Asthma Hyper-IgE recurrent infection syndrome 4A PMID:37273120 [Fam.B:II.5(P6)]
105943 M 215912tree icon - Colombian/Swiss Asthma Hyper-IgE recurrent infection syndrome 4A PMID:37273120 [Fam.C:II.1(P8)]
106023 M 215923 - Japanese Asthma CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.AA:IV.1(AA.IV.1 (69))]; PMID:30048690 [Fam.4:IV.1(P4.2)]; PMID:35087518 [Fam.16:IV.1(16.2)]
106264 M 215977 - Caucasian Asthma CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:IV.11(UU.IV.10 (119))]; PMID:29305966 [Fam.IV.2:IV.5(IV.11)]
106415 F 216011tree icon - Indian Atopy Hyper-IgE recurrent infection syndrome 4A PMID:38578568 [Fam.1:I.2(mother)]
106596 F 216087tree icon - French Asthma Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.1:I.2(P1)]
106599 M 216087tree icon - French Asthma Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.1:II.1(P2)]
106600 M 216087tree icon - French Asthma Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.1:II.2(P3)]
106622 M 216091tree icon - Ashkenazi Jewish Asthma Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.4:II.1(P11)]
106625 F 216092tree icon - Admixed Asthma Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.5:II.2(P13)]
106679 F 216106tree icon - Dutch Allergic asthma NFKB1 insufficiency PMID:150198 [Fam.ET:II.2(600)]; PMID:36105815 [Fam.G64V:II.2(G64V/2)]
106683 M 216107 - German Asthma NFKB1 insufficiency PMID:150198 [Fam.EW:607]; PMID:36105815 [N103D]
106912 F 216186 - Asthma Immunodeficiency, common variable, 8 PMID:39289195 [Patient(II.2)]

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).