Autoimmune interstitial lung disease-arthritis syndrome
Synonyms: COPA syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoimmune interstitial lung disease-arthritis syndrome | COPA syndrome |
| fr | Syndrome autoimmun de pneumopathie interstitielle-arthrite | Syndrome du COPA |
| de | Autoimmune interstitielle Lungenkrankheit-Arthritis-Syndrom | COPA-Syndrom |
| es | Síndrome de enfermedad pulmonar intersticial autoinmune-artritis | Síndrome COPA |
| it | Sindrome autoimmune malattia polmonare interstiziale-artrite | Difetto di COPA |
| nl | Auto-immune interstitiële longziekte - artritis-syndroom | COPA-syndroom |
| pt | Síndrome de doença pulmonar intersticial autoimune-artrite | |
| pl | Zespół autoimmunologicznej śródmiąższowej choroby płuc i zapalenia stawów | = en |
| cs | Syndrom zahrnující autoimunitní intersticiální plicní chorobu a artritidu | COPA defekt |
| uk | Синдром аутоімунного інтерстиціального захворювання легень-артриту | Синдром COPA |
| zh | 自身免疫性间质性肺病-关节炎综合征 | COPA综合征 |
| tr | Otoimmün interstisyel akciğer hastalığı-artrit sendromu | COPA sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616414 | E | validated | |
| ICD-10 | M35.8 | NTBT | attributed | validated |
| ICD-11 | CB05.1 | NTBT | attributed | validated |
| MONDO | 0014629 | E | validated | |
| UMLS | C5243948 | E | validated | |
| MedDRA | 10083948 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:264992Genetic interstitial lung disease
rare genetic diseases - ORPHA:567556Genetic systemic disease with glomerulopathy as a major feature
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:271870Rare genetic systemic or rheumatologic disease
rare genetic diseases - ORPHA:280373Rare pediatric systemic disease
rare systemic or rheumatologic diseases of childhood - ORPHA:264699Secondary interstitial lung disease specific to childhood associated with a systemic disease
rare respiratory diseases; rare transplant-related disorders - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COPA | Disease-causing germline mutation(s) in | Assessed | HGNC:2230 | ENSG00000122218 | 601924 | 1q23.2 | coat protein complex I subunit alpha | 25894502[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 25894502[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25894502[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/444092
- This record as JSON: /data/d/444092.json