obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Anti-Recoverin antibody #10549

Closed carolina-f closed 2 months ago

carolina-f commented 4 months ago

Preferred term label:

Synonyms

Anti-retinal CAR antigen antibody

Definition (free text, please give PubMed ID) The presence of autoantibodies in the serum that react against recoverin. Recoverins are calcium-binding proteins primarily expressed in retinal rod photoreceptors and primarily involved in phototransduction.

PMID: 38054667 Anti-recoverin antibodies are typically found in cancer-associated retinopathy (CAR) or autoimmune diseases. We present a case of anti-recoverin positive cerebellar syndrome without any signs of malignancy or retinopathy. The patient was treated with steroids and intravenous immunoglobulins, improving cognitive and motor symptoms.

Parent term (use hpo.jax.org/app) Autoimmune antibody positivity HP:0030057

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) ORPHA:71505 Cancer-associated retinopathy

Your nano-attribution (ORCID) 0009-0005-6714-5727

pnrobinson commented 2 months ago

@carolina-f Adding new term: