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Article

Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.

Orphanet journal of rare diseases - 5 Feb 2026

Eid Marie-Thérèse, de Mul Aurélie, Muresan-Vintila Laure, Derain Dubourg Laurence, Bertholet-Thomas Aurélia, Molin Arnaud, Thivichon-Prince Béatrice, Bacchetta Justine

Abstract excerpt

BACKGROUND: Enamel Renal Syndrome (ERS) is a rare disorder characterized by a combination of dental and renal abnormalities, including stones and hypophosphatemia. ERS is genetically heterogeneous. METHODS: We report on four pediatric cases of homozygous LoF FAM20A mutations (2 families). Biological (including oral calcium load) and imaging (dental and renal) data were reviewed. Results are presented as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41645214
DOI: 10.1186/s13023-026-04232-6
PMCID: PMC12969917

Genes

FAM20A
PTH

Provenance

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

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Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.PMID 41645214Read ↗

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Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian familiesSemantic proximity Read ↗

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