Autoinflammation and autoimmunity, systemic, with immune dysregulation

Preferred Label : Autoinflammation and autoimmunity, systemic, with immune dysregulation;

Symbol : AIAISD;

CISMeF acronym : AILJK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Autoimmune interstitial lung, joint, and kidney disease; AILJK;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the coatomer protein complex, subunit alpha gene (COPA, 601924.0001);

Laboratory abnormalities : Increased erythrocyte sedimentation rate; Increased C-reactive protein;

Prefixed ID : #616414;

Details

Origin ID

616414;

UMLS CUI

C5243948;

Currated CISMeF NLP mapping
- Autoimmune interstitial lung disease, arthritis syndrome (disorder) [SNOMED CT concept]
- Autoimmune interstitial lung disease-arthritis syndrome [ORDO Disease]
- COPA syndrome [MedDRA Preferred Term]
Genes related to phenotype
- Coatomer protein complex, subunit alpha [OMIM gene]
HPO term(s)
- Abnormal pulmonary interstitial morphology [HPO term]
- Antinuclear antibody positivity [HPO term]
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Cough [HPO term]
- Crescentic glomerulonephritis [HPO term]
- Decreased DLCO [HPO term]
- Dyspnea [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Hemosiderin-laden macrophages in bronchoalveolar fluid [HPO term]
- Mesangial hypercellularity [HPO term]
- Pulmonary hemorrhage [HPO term]
- Restrictive ventilatory defect [HPO term]
- Tachypnea [HPO term]
ORDO concept(s)
- Autoimmune interstitial lung disease-arthritis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune interstitial lung disease, arthritis syndrome (disorder) [SNOMED CT concept]
- COPA syndrome [MedDRA Preferred Term]

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