AILJK
MCID: ATM086
MIFTS: 31

Autoimmune Interstitial Lung, Joint, and Kidney Disease (AILJK)

Categories: Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Autoimmune Interstitial Lung, Joint, and Kidney Disease

MalaCards integrated aliases for Autoimmune Interstitial Lung, Joint, and Kidney Disease:

Name: Autoimmune Interstitial Lung, Joint, and Kidney Disease 57 72 29 6 39
Ailjk 57 72
Autoimmune Interstitial Lung Disease-Arthritis Syndrome 58
Copa Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
autoimmune interstitial lung disease-arthritis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
onset in the first or second decade

Inheritance:
autosomal dominant


HPO:

31
autoimmune interstitial lung, joint, and kidney disease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases


Summaries for Autoimmune Interstitial Lung, Joint, and Kidney Disease

OMIM® : 57 Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015). (616414) (Updated 20-May-2021)

MalaCards based summary : Autoimmune Interstitial Lung, Joint, and Kidney Disease, also known as ailjk, is related to lung disease and interstitial lung disease. An important gene associated with Autoimmune Interstitial Lung, Joint, and Kidney Disease is COPA (COPI Coat Complex Subunit Alpha). Affiliated tissues include lung and kidney, and related phenotypes are arthritis and dyspnea

UniProtKB/Swiss-Prot : 72 Autoimmune interstitial lung, joint, and kidney disease: An autoimmune disease characterized by inflammatory arthritis, interstitial lung disease, and immune complex-mediated renal disease.

Related Diseases for Autoimmune Interstitial Lung, Joint, and Kidney Disease

Diseases related to Autoimmune Interstitial Lung, Joint, and Kidney Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 lung disease 10.4
2 interstitial lung disease 10.4
3 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
4 bronchiolitis 10.1
5 pulmonary hemosiderosis 9.9
6 pyelonephritis 9.9
7 hemosiderosis 9.9
8 nonspecific interstitial pneumonia 9.9
9 pulmonary fibrosis 9.9
10 nephrolithiasis 9.9
11 lupus erythematosus 9.9
12 neuromyelitis optica 9.9
13 avascular necrosis 9.9
14 glomerular disease 9.9

Graphical network of the top 20 diseases related to Autoimmune Interstitial Lung, Joint, and Kidney Disease:



Diseases related to Autoimmune Interstitial Lung, Joint, and Kidney Disease

Symptoms & Phenotypes for Autoimmune Interstitial Lung, Joint, and Kidney Disease

Human phenotypes related to Autoimmune Interstitial Lung, Joint, and Kidney Disease:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 arthritis 31 very rare (1%) HP:0001369
2 dyspnea 31 very rare (1%) HP:0002094
3 cough 31 very rare (1%) HP:0012735
4 tachypnea 31 very rare (1%) HP:0002789
5 restrictive ventilatory defect 31 very rare (1%) HP:0002091
6 antinuclear antibody positivity 31 very rare (1%) HP:0003493
7 pulmonary hemorrhage 31 very rare (1%) HP:0040223
8 mesangial hypercellularity 31 very rare (1%) HP:0012574
9 crescentic glomerulonephritis 31 very rare (1%) HP:0008653
10 abnormal pulmonary interstitial morphology 31 very rare (1%) HP:0006530
11 hemosiderin-laden macrophages in bronchoalveolar fluid 31 very rare (1%) HP:0032979
12 arthralgia 31 HP:0002829
13 elevated c-reactive protein level 31 HP:0011227
14 elevated erythrocyte sedimentation rate 31 HP:0003565
15 decreased dlco 31 HP:0045051

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory:
cough
tachypnea
shortness of breath

Genitourinary Kidneys:
crescentic glomerulonephritis
fibrosis
renal disease
immune complex deposition

Laboratory Abnormalities:
increased erythrocyte sedimentation rate
increased c-reactive protein

Respiratory Lung:
pulmonary hemorrhage
interstitial lung disease
lymphocytic interstitial infiltration
ground-glass opacities on radiographs

Skeletal:
joint pain
arthritis, inflammatory

Immunology:
autoantibodies

Clinical features from OMIM®:

616414 (Updated 20-May-2021)

Drugs & Therapeutics for Autoimmune Interstitial Lung, Joint, and Kidney Disease

Search Clinical Trials , NIH Clinical Center for Autoimmune Interstitial Lung, Joint, and Kidney Disease

Genetic Tests for Autoimmune Interstitial Lung, Joint, and Kidney Disease

Genetic tests related to Autoimmune Interstitial Lung, Joint, and Kidney Disease:

# Genetic test Affiliating Genes
1 Autoimmune Interstitial Lung, Joint, and Kidney Disease 29 COPA

Anatomical Context for Autoimmune Interstitial Lung, Joint, and Kidney Disease

MalaCards organs/tissues related to Autoimmune Interstitial Lung, Joint, and Kidney Disease:

40
Lung, Kidney

Publications for Autoimmune Interstitial Lung, Joint, and Kidney Disease

Articles related to Autoimmune Interstitial Lung, Joint, and Kidney Disease:

# Title Authors PMID Year
1
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. 57 6
25894502 2015
2
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. 6 61
29137621 2017
3
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. 6
27577878 2017

Variations for Autoimmune Interstitial Lung, Joint, and Kidney Disease

ClinVar genetic disease variations for Autoimmune Interstitial Lung, Joint, and Kidney Disease:

6 (show top 50) (show all 145)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COPA NM_004371.4(COPA):c.721G>A (p.Glu241Lys) SNV Pathogenic 199256 rs794727995 GRCh37: 1:160283901-160283901
GRCh38: 1:160314111-160314111
2 COPA NM_004371.4(COPA):c.698G>A (p.Arg233His) SNV Pathogenic 199254 rs794727993 GRCh37: 1:160293229-160293229
GRCh38: 1:160323439-160323439
3 COPA NM_004371.4(COPA):c.728A>G (p.Asp243Gly) SNV Pathogenic 199255 rs794727994 GRCh37: 1:160283894-160283894
GRCh38: 1:160314104-160314104
4 COPA NM_004371.4(COPA):c.690G>T (p.Lys230Asn) SNV Pathogenic 218941 rs864309710 GRCh37: 1:160293237-160293237
GRCh38: 1:160323447-160323447
5 COPA NM_004371.4(COPA):c.715G>C (p.Ala239Pro) SNV Likely pathogenic 577775 rs1557868211 GRCh37: 1:160283907-160283907
GRCh38: 1:160314117-160314117
6 COPA NM_004371.4(COPA):c.863G>A (p.Arg288His) SNV Uncertain significance 579409 rs781647709 GRCh37: 1:160282937-160282937
GRCh38: 1:160313147-160313147
7 COPA NM_004371.4(COPA):c.1406C>T (p.Ala469Val) SNV Uncertain significance 569911 rs761705607 GRCh37: 1:160276180-160276180
GRCh38: 1:160306390-160306390
8 COPA NM_004371.4(COPA):c.2398C>T (p.Pro800Ser) SNV Uncertain significance 573602 rs1557861270 GRCh37: 1:160265604-160265604
GRCh38: 1:160295814-160295814
9 COPA NM_004371.4(COPA):c.2575G>T (p.Val859Leu) SNV Uncertain significance 574835 rs540161688 GRCh37: 1:160264375-160264375
GRCh38: 1:160294585-160294585
10 COPA NM_004371.4(COPA):c.722A>C (p.Glu241Ala) SNV Uncertain significance 576697 rs1557868201 GRCh37: 1:160283900-160283900
GRCh38: 1:160314110-160314110
11 COPA NM_004371.4(COPA):c.766G>C (p.Val256Leu) SNV Uncertain significance 643564 rs143714109 GRCh37: 1:160283856-160283856
GRCh38: 1:160314066-160314066
12 COPA NM_004371.4(COPA):c.2504_2509TTGACA[1] (p.835_836ID[1]) Microsatellite Uncertain significance 647302 rs772631508 GRCh37: 1:160264609-160264614
GRCh38: 1:160294819-160294824
13 COPA NM_004371.4(COPA):c.1472T>C (p.Val491Ala) SNV Uncertain significance 649894 rs1571158645 GRCh37: 1:160275534-160275534
GRCh38: 1:160305744-160305744
14 COPA NM_004371.4(COPA):c.251G>A (p.Arg84His) SNV Uncertain significance 650500 rs1252870201 GRCh37: 1:160305090-160305090
GRCh38: 1:160335300-160335300
15 COPA NM_004371.4(COPA):c.778C>T (p.Arg260Cys) SNV Uncertain significance 652838 rs773636602 GRCh37: 1:160283844-160283844
GRCh38: 1:160314054-160314054
16 COPA NM_004371.4(COPA):c.925+2T>C SNV Uncertain significance 656343 rs1388547930 GRCh37: 1:160282873-160282873
GRCh38: 1:160313083-160313083
17 COPA NM_004371.4(COPA):c.3147+4G>A SNV Uncertain significance 661387 rs1571147652 GRCh37: 1:160261798-160261798
GRCh38: 1:160292008-160292008
18 COPA NM_004371.4(COPA):c.509A>G (p.Lys170Arg) SNV Uncertain significance 663582 rs750764548 GRCh37: 1:160295430-160295430
GRCh38: 1:160325640-160325640
19 COPA NM_004371.4(COPA):c.2725C>T (p.Pro909Ser) SNV Uncertain significance 542640 rs764620128 GRCh37: 1:160263205-160263205
GRCh38: 1:160293415-160293415
20 COPA NM_004371.4(COPA):c.1220C>T (p.Ala407Val) SNV Uncertain significance 542641 rs559332322 GRCh37: 1:160277035-160277035
GRCh38: 1:160307245-160307245
21 COPA NM_004371.4(COPA):c.2809G>A (p.Glu937Lys) SNV Uncertain significance 978464 GRCh37: 1:160262970-160262970
GRCh38: 1:160293180-160293180
22 COPA NM_004371.4(COPA):c.2681T>C (p.Ile894Thr) SNV Uncertain significance 841283 GRCh37: 1:160263249-160263249
GRCh38: 1:160293459-160293459
23 COPA NM_004371.4(COPA):c.2890G>A (p.Ala964Thr) SNV Uncertain significance 849943 GRCh37: 1:160262344-160262344
GRCh38: 1:160292554-160292554
24 COPA NM_004371.4(COPA):c.1400G>A (p.Arg467Gln) SNV Uncertain significance 860551 GRCh37: 1:160276186-160276186
GRCh38: 1:160306396-160306396
25 COPA NM_004371.4(COPA):c.1070_1072dup (p.Leu357dup) Duplication Uncertain significance 863221 GRCh37: 1:160281661-160281662
GRCh38: 1:160311871-160311872
26 COPA NM_004371.4(COPA):c.1618G>A (p.Val540Ile) SNV Uncertain significance 934713 GRCh37: 1:160275272-160275272
GRCh38: 1:160305482-160305482
27 COPA NM_004371.4(COPA):c.1873A>G (p.Ile625Val) SNV Uncertain significance 935667 GRCh37: 1:160268739-160268739
GRCh38: 1:160298949-160298949
28 COPA NM_004371.4(COPA):c.2690G>A (p.Gly897Glu) SNV Uncertain significance 940772 GRCh37: 1:160263240-160263240
GRCh38: 1:160293450-160293450
29 COPA NM_004371.4(COPA):c.1100A>G (p.Asn367Ser) SNV Uncertain significance 942192 GRCh37: 1:160280025-160280025
GRCh38: 1:160310235-160310235
30 COPA NM_004371.4(COPA):c.2263+4A>G SNV Uncertain significance 948273 GRCh37: 1:160267129-160267129
GRCh38: 1:160297339-160297339
31 COPA NM_004371.4(COPA):c.47G>A (p.Ser16Asn) SNV Uncertain significance 949932 GRCh37: 1:160310078-160310078
GRCh38: 1:160340288-160340288
32 COPA NM_004371.4(COPA):c.3552G>T (p.Lys1184Asn) SNV Uncertain significance 955962 GRCh37: 1:160260345-160260345
GRCh38: 1:160290555-160290555
33 COPA NM_004371.4(COPA):c.1316A>G (p.Asn439Ser) SNV Uncertain significance 964303 GRCh37: 1:160276270-160276270
GRCh38: 1:160306480-160306480
34 COPA NM_004371.4(COPA):c.3258+4A>G SNV Uncertain significance 966529 GRCh37: 1:160261605-160261605
GRCh38: 1:160291815-160291815
35 COPA NM_004371.4(COPA):c.1480G>A (p.Val494Ile) SNV Uncertain significance 969535 GRCh37: 1:160275526-160275526
GRCh38: 1:160305736-160305736
36 COPA NM_004371.4(COPA):c.1303-3C>T SNV Uncertain significance 1001671 GRCh37: 1:160276286-160276286
GRCh38: 1:160306496-160306496
37 COPA NM_004371.4(COPA):c.3248G>A (p.Arg1083His) SNV Uncertain significance 1002708 GRCh37: 1:160261619-160261619
GRCh38: 1:160291829-160291829
38 COPA NM_004371.4(COPA):c.874G>T (p.Asp292Tyr) SNV Uncertain significance 1004028 GRCh37: 1:160282926-160282926
GRCh38: 1:160313136-160313136
39 COPA NM_004371.4(COPA):c.3140T>C (p.Ile1047Thr) SNV Uncertain significance 1004092 GRCh37: 1:160261809-160261809
GRCh38: 1:160292019-160292019
40 COPA NM_004371.4(COPA):c.2974C>G (p.Leu992Val) SNV Uncertain significance 1004345 GRCh37: 1:160261975-160261975
GRCh38: 1:160292185-160292185
41 COPA NM_004371.4(COPA):c.2960+6G>T SNV Uncertain significance 1006401 GRCh37: 1:160262268-160262268
GRCh38: 1:160292478-160292478
42 COPA NM_004371.4(COPA):c.2276A>G (p.Tyr759Cys) SNV Uncertain significance 1008393 GRCh37: 1:160265927-160265927
GRCh38: 1:160296137-160296137
43 COPA NM_004371.4(COPA):c.2823+3A>G SNV Uncertain significance 1008473 GRCh37: 1:160262953-160262953
GRCh38: 1:160293163-160293163
44 COPA NM_004371.4(COPA):c.790A>G (p.Ile264Val) SNV Uncertain significance 1009634 GRCh37: 1:160283832-160283832
GRCh38: 1:160314042-160314042
45 COPA NM_004371.4(COPA):c.772C>T (p.His258Tyr) SNV Uncertain significance 1011108 GRCh37: 1:160283850-160283850
GRCh38: 1:160314060-160314060
46 COPA NM_004371.4(COPA):c.2519T>C (p.Val840Ala) SNV Uncertain significance 542642 rs778952692 GRCh37: 1:160264605-160264605
GRCh38: 1:160294815-160294815
47 COPA NM_004371.4(COPA):c.2314G>A (p.Glu772Lys) SNV Uncertain significance 542643 rs1334352247 GRCh37: 1:160265889-160265889
GRCh38: 1:160296099-160296099
48 COPA NM_004371.4(COPA):c.1943G>T (p.Arg648Leu) SNV Uncertain significance 844628 GRCh37: 1:160268669-160268669
GRCh38: 1:160298879-160298879
49 COPA NM_004371.4(COPA):c.1072C>T (p.Arg358Trp) SNV Uncertain significance 850114 GRCh37: 1:160281662-160281662
GRCh38: 1:160311872-160311872
50 COPA NM_004371.4(COPA):c.2379G>C (p.Lys793Asn) SNV Uncertain significance 850857 GRCh37: 1:160265623-160265623
GRCh38: 1:160295833-160295833

UniProtKB/Swiss-Prot genetic disease variations for Autoimmune Interstitial Lung, Joint, and Kidney Disease:

72
# Symbol AA change Variation ID SNP ID
1 COPA p.Lys230Asn VAR_073844 rs864309710
2 COPA p.Arg233His VAR_073845 rs794727993
3 COPA p.Glu241Lys VAR_073846 rs794727995
4 COPA p.Asp243Gly VAR_073847 rs794727994

Expression for Autoimmune Interstitial Lung, Joint, and Kidney Disease

Search GEO for disease gene expression data for Autoimmune Interstitial Lung, Joint, and Kidney Disease.

Pathways for Autoimmune Interstitial Lung, Joint, and Kidney Disease

GO Terms for Autoimmune Interstitial Lung, Joint, and Kidney Disease

Sources for Autoimmune Interstitial Lung, Joint, and Kidney Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....