MCID: ATM086
MIFTS: 23

Autoimmune Interstitial Lung, Joint, and Kidney Disease

Categories: Genetic diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Rare 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 75 29 6 40
Ailjk 57 75
Autoimmune Interstitial Lung Disease-Arthritis Syndrome 59
Copa Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
autoimmune interstitial lung disease-arthritis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
onset in the first or second decade


HPO:

32
autoimmune interstitial lung, joint, and kidney disease:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



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)

MalaCards based summary : Autoimmune Interstitial Lung, Joint, and Kidney Disease, is also known as ailjk. An important gene associated with Autoimmune Interstitial Lung, Joint, and Kidney Disease is COPA (Coatomer Protein Complex Subunit Alpha). Affiliated tissues include lung, kidney and bone, and related phenotypes are arthralgia and respiratory distress

UniProtKB/Swiss-Prot : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
cough
tachypnea
shortness of breath

Skeletal:
joint pain
arthritis, inflammatory

Genitourinary Kidneys:
fibrosis
renal disease
crescentic glomerulonephritis
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

Immunology:
autoantibodies


Clinical features from OMIM:

616414

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 arthralgia 32 HP:0002829
2 respiratory distress 32 HP:0002098
3 cough 32 HP:0012735
4 tachypnea 32 HP:0002789
5 interstitial pulmonary abnormality 32 HP:0006530
6 elevated erythrocyte sedimentation rate 32 HP:0003565
7 pulmonary hemorrhage 32 HP:0040223
8 crescentic glomerulonephritis 32 HP:0008653

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:

41
Lung, Kidney, Bone

Publications for Autoimmune Interstitial Lung, Joint, and Kidney Disease

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

# Title Authors Year
1
Imaging findings of Copa syndrome in a 12-year-old boy. ( 28956095 )
2018
2
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. ( 29137621 )
2017

Variations for Autoimmune Interstitial Lung, Joint, and Kidney Disease

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

75
# 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

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

6
(show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 COPA NM_001098398.1(COPA): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs794727993 GRCh37 Chromosome 1, 160293229: 160293229
2 COPA NM_001098398.1(COPA): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs794727993 GRCh38 Chromosome 1, 160323439: 160323439
3 COPA NM_001098398.1(COPA): c.728A> G (p.Asp243Gly) single nucleotide variant Pathogenic rs794727994 GRCh37 Chromosome 1, 160283894: 160283894
4 COPA NM_001098398.1(COPA): c.728A> G (p.Asp243Gly) single nucleotide variant Pathogenic rs794727994 GRCh38 Chromosome 1, 160314104: 160314104
5 COPA NM_001098398.1(COPA): c.721G> A (p.Glu241Lys) single nucleotide variant Pathogenic rs794727995 GRCh37 Chromosome 1, 160283901: 160283901
6 COPA NM_001098398.1(COPA): c.721G> A (p.Glu241Lys) single nucleotide variant Pathogenic rs794727995 GRCh38 Chromosome 1, 160314111: 160314111
7 COPA NM_001098398.1(COPA): c.690G> T (p.Lys230Asn) single nucleotide variant Pathogenic rs864309710 GRCh37 Chromosome 1, 160293237: 160293237
8 COPA NM_001098398.1(COPA): c.690G> T (p.Lys230Asn) single nucleotide variant Pathogenic rs864309710 GRCh38 Chromosome 1, 160323447: 160323447
9 COPA NM_004371.3(COPA): c.753T> C (p.Asn251=) single nucleotide variant Likely benign rs374078706 GRCh38 Chromosome 1, 160314079: 160314079
10 COPA NM_004371.3(COPA): c.753T> C (p.Asn251=) single nucleotide variant Likely benign rs374078706 GRCh37 Chromosome 1, 160283869: 160283869
11 COPA NM_004371.3(COPA): c.436A> G (p.Thr146Ala) single nucleotide variant Benign rs57425682 GRCh37 Chromosome 1, 160302298: 160302298
12 COPA NM_004371.3(COPA): c.436A> G (p.Thr146Ala) single nucleotide variant Benign rs57425682 GRCh38 Chromosome 1, 160332508: 160332508
13 COPA NM_004371.3(COPA): c.2754+4A> G single nucleotide variant Benign rs75190422 GRCh37 Chromosome 1, 160263172: 160263172
14 COPA NM_004371.3(COPA): c.2754+4A> G single nucleotide variant Benign rs75190422 GRCh38 Chromosome 1, 160293382: 160293382
15 COPA NM_004371.3(COPA): c.2531G> A (p.Gly844Asp) single nucleotide variant Likely benign rs143115096 GRCh37 Chromosome 1, 160264593: 160264593
16 COPA NM_004371.3(COPA): c.2531G> A (p.Gly844Asp) single nucleotide variant Likely benign rs143115096 GRCh38 Chromosome 1, 160294803: 160294803
17 COPA NM_004371.3(COPA): c.2319C> T (p.Ser773=) single nucleotide variant Benign rs74125574 GRCh38 Chromosome 1, 160296094: 160296094
18 COPA NM_004371.3(COPA): c.2319C> T (p.Ser773=) single nucleotide variant Benign rs74125574 GRCh37 Chromosome 1, 160265884: 160265884
19 COPA NM_004371.3(COPA): c.1005T> C (p.Tyr335=) single nucleotide variant Benign rs74125578 GRCh37 Chromosome 1, 160281729: 160281729
20 COPA NM_004371.3(COPA): c.1005T> C (p.Tyr335=) single nucleotide variant Benign rs74125578 GRCh38 Chromosome 1, 160311939: 160311939
21 COPA NM_004371.3(COPA): c.297G> A (p.Thr99=) single nucleotide variant Benign rs77097084 GRCh37 Chromosome 1, 160305044: 160305044
22 COPA NM_004371.3(COPA): c.297G> A (p.Thr99=) single nucleotide variant Benign rs77097084 GRCh38 Chromosome 1, 160335254: 160335254
23 COPA NM_004371.3(COPA): c.2263+7A> G single nucleotide variant Benign rs116596416 GRCh37 Chromosome 1, 160267126: 160267126
24 COPA NM_004371.3(COPA): c.2263+7A> G single nucleotide variant Benign rs116596416 GRCh38 Chromosome 1, 160297336: 160297336
25 COPA NM_004371.3(COPA): c.1741C> T (p.Leu581=) single nucleotide variant Benign rs79304843 GRCh37 Chromosome 1, 160268981: 160268981
26 COPA NM_004371.3(COPA): c.1741C> T (p.Leu581=) single nucleotide variant Benign rs79304843 GRCh38 Chromosome 1, 160299191: 160299191
27 COPA NM_004371.3(COPA): c.607-8_607-7delTT deletion Likely benign GRCh37 Chromosome 1, 160293327: 160293328
28 COPA NM_004371.3(COPA): c.607-8_607-7delTT deletion Likely benign GRCh38 Chromosome 1, 160323537: 160323538
29 COPA NM_004371.3(COPA): c.2314G> A (p.Glu772Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 160265889: 160265889
30 COPA NM_004371.3(COPA): c.2314G> A (p.Glu772Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 160296099: 160296099
31 COPA NM_004371.3(COPA): c.994A> G (p.Met332Val) single nucleotide variant Benign rs115066135 GRCh37 Chromosome 1, 160281740: 160281740
32 COPA NM_004371.3(COPA): c.994A> G (p.Met332Val) single nucleotide variant Benign rs115066135 GRCh38 Chromosome 1, 160311950: 160311950
33 COPA NM_004371.3(COPA): c.399G> A (p.Gly133=) single nucleotide variant Benign rs142221638 GRCh37 Chromosome 1, 160302335: 160302335
34 COPA NM_004371.3(COPA): c.399G> A (p.Gly133=) single nucleotide variant Benign rs142221638 GRCh38 Chromosome 1, 160332545: 160332545
35 COPA NM_004371.3(COPA): c.192A> G (p.Pro64=) single nucleotide variant Benign rs143827776 GRCh38 Chromosome 1, 160339945: 160339945
36 COPA NM_004371.3(COPA): c.192A> G (p.Pro64=) single nucleotide variant Benign rs143827776 GRCh37 Chromosome 1, 160309735: 160309735
37 COPA NM_004371.3(COPA): c.2725C> T (p.Pro909Ser) single nucleotide variant Uncertain significance rs764620128 GRCh38 Chromosome 1, 160293415: 160293415
38 COPA NM_004371.3(COPA): c.2725C> T (p.Pro909Ser) single nucleotide variant Uncertain significance rs764620128 GRCh37 Chromosome 1, 160263205: 160263205
39 COPA NM_004371.3(COPA): c.2683T> G (p.Ser895Ala) single nucleotide variant Likely benign rs139398871 GRCh38 Chromosome 1, 160293457: 160293457
40 COPA NM_004371.3(COPA): c.2683T> G (p.Ser895Ala) single nucleotide variant Likely benign rs139398871 GRCh37 Chromosome 1, 160263247: 160263247
41 COPA NM_004371.3(COPA): c.2519T> C (p.Val840Ala) single nucleotide variant Uncertain significance rs778952692 GRCh38 Chromosome 1, 160294815: 160294815
42 COPA NM_004371.3(COPA): c.2519T> C (p.Val840Ala) single nucleotide variant Uncertain significance rs778952692 GRCh37 Chromosome 1, 160264605: 160264605
43 COPA NM_004371.3(COPA): c.1667+9A> G single nucleotide variant Likely benign rs375429812 GRCh38 Chromosome 1, 160305424: 160305424
44 COPA NM_004371.3(COPA): c.1667+9A> G single nucleotide variant Likely benign rs375429812 GRCh37 Chromosome 1, 160275214: 160275214
45 COPA NM_004371.3(COPA): c.3433C> T (p.Leu1145=) single nucleotide variant Likely benign rs747075563 GRCh37 Chromosome 1, 160260464: 160260464
46 COPA NM_004371.3(COPA): c.3433C> T (p.Leu1145=) single nucleotide variant Likely benign rs747075563 GRCh38 Chromosome 1, 160290674: 160290674
47 COPA NM_004371.3(COPA): c.1220C> T (p.Ala407Val) single nucleotide variant Uncertain significance rs559332322 GRCh38 Chromosome 1, 160307245: 160307245
48 COPA NM_004371.3(COPA): c.1220C> T (p.Ala407Val) single nucleotide variant Uncertain significance rs559332322 GRCh37 Chromosome 1, 160277035: 160277035

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

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74 UMLS via Orphanet
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