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Juvenile arthritis due to defect in LACC1

MedGen UID:
946368
Concept ID:
CN263340
Disease or Syndrome
Synonym: Juvenile arthritis
 
Gene (location): LACC1 (13q14.11)
 
Monarch Initiative: MONDO:0032920
OMIM®: 618795

Definition

Juvenile arthritis (JUVAR) is characterized by onset in early childhood of symmetric arthritis in multiple joints, associated with a marked increase in inflammatory markers. Some patients exhibit systemic symptoms, including quotidian fever, erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or splenomegaly. There is high clinical variability, even within the same family (Karacan et al., 2018). [from OMIM]

Professional guidelines

PubMed

Aksentijevich I, McDermott MF
Curr Opin Rheumatol 2017 Mar;29(2):187-194. doi: 10.1097/BOR.0000000000000362. PMID: 27906774Free PMC Article

Recent clinical studies

Etiology

Wu Y, Wang S, Yin W, Yin W, Ding Y
Mol Genet Genomic Med 2023 Jul;11(7):e2175. Epub 2023 Apr 25 doi: 10.1002/mgg3.2175. PMID: 37186377Free PMC Article
Aksentijevich I, McDermott MF
Curr Opin Rheumatol 2017 Mar;29(2):187-194. doi: 10.1097/BOR.0000000000000362. PMID: 27906774Free PMC Article

Diagnosis

Wu Y, Wang S, Yin W, Yin W, Ding Y
Mol Genet Genomic Med 2023 Jul;11(7):e2175. Epub 2023 Apr 25 doi: 10.1002/mgg3.2175. PMID: 37186377Free PMC Article
Rabionet R, Remesal A, Mensa-Vilaró A, Murías S, Alcobendas R, González-Roca E, Ruiz-Ortiz E, Antón J, Iglesias E, Modesto C, Comas D, Puig A, Drechsel O, Ossowski S, Yagüe J, Merino R, Estivill X, Arostegui JI
Sci Rep 2019 Mar 14;9(1):4579. doi: 10.1038/s41598-019-40874-2. PMID: 30872671Free PMC Article
Aksentijevich I, McDermott MF
Curr Opin Rheumatol 2017 Mar;29(2):187-194. doi: 10.1097/BOR.0000000000000362. PMID: 27906774Free PMC Article

Therapy

Aksentijevich I, McDermott MF
Curr Opin Rheumatol 2017 Mar;29(2):187-194. doi: 10.1097/BOR.0000000000000362. PMID: 27906774Free PMC Article

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