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Article

Broadening the Phenotypic Spectrum of MAFB-Related Disease: Renal, Auricular, Ocular, and Nervous System Involvement.

Genes - 19 Mar 2026

Eliyahu Aviva, Atias-Varon Danit, Barel Ortal, Khavkin Yulia, Pras Elon, Reznik-Wolf Haike, Chorin Odelia, Poleg Tomer, Biller Ari, Beckerman Pazit, Abu-Amer Nabil, Wygnanski-Jaffe Tamara, Greenbaum Lior, Vivante Asaf, Krause Irit

Abstract excerpt

BACKGROUND: Focal segmental glomerulosclerosis (FSGS) is a leading cause of renal disease presenting with steroid-resistant nephrotic syndrome (SNRS) and variable stages of chronic kidney disease (CKD). Monogenic etiologies for FSGS are increasingly recognized, particularly in pediatric and familial cases. Missense variants in the MAF BZIP Transcription Factor B (MAFB) gene cause a dominantly inherited condition...

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Share to Glomerulosclerosis, Focal Segmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Share to Renal Insufficiency, Chronic

Source

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Identifiers

PMID: 41898877
DOI: 10.3390/genes17030342
PMCID: PMC13026826

Genes

MAFB
MAF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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