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Article

A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis.

Journal of inherited metabolic disease - 1 Oct 2011

Imundo Lisa, Leduc Charles A, Guha Saurav, Brown Marc, Perino Giorgio, Gushulak Lara, Triggs-Raine Barbara, Chung Wendy K

Abstract excerpt

We describe a single consanguineous family with three affected children exhibiting knee and/or hip pain associated with swelling. Detailed clinical evaluation demonstrated diffuse joint involvement with an unusual proliferative synovitis on MRI. Synovial biopsies were notable for an infiltration of macrophages with abundant cytoplasm filled with faintly basophilic vacuoles. We used homozygosity mapping with a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21559944
DOI: 10.1007/s10545-011-9343-3

Genes

HYAL1

Variants

Provenance

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Related research

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A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis.PMID 21559944Read ↗

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