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Article

Genealogical Rabson-Mendenhall syndrome caused by INSR gene mutation.

American journal of physiology. Endocrinology and metabolism - 1 Aug 2025

Yuan Xuewen, Zhu Ziyang, Liang Chao

Abstract excerpt

Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive disorder caused by mutations in the insulin receptor gene (INSR), leading to severe insulin resistance. Clinical manifestations of RMS include hypertrichosis and acanthosis nigricans. A 3-yr-old male patient presented with darkened skin on the neck, without any apparent precipitating factors, and did not exhibit symptoms of polyuria or polydipsia....

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Identifiers

PMID: 40499531
DOI: 10.1152/ajpendo.00285.2024

Genes

INSR

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Genealogical Rabson-Mendenhall syndrome caused by INSR gene mutation.PMID 40499531Read ↗

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One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall SyndromeSemantic proximity Read ↗

Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene MutationSemantic proximity Read ↗

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INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report.Semantic proximity Read ↗

Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.Semantic proximity Read ↗

Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.Semantic proximity Read ↗

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Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations.Semantic proximity Read ↗

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