Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic alteration of ARMC5 in a patient diagnosed with meningioma and primary macronodular adrenal hyperplasia: a case report.

European journal of endocrinology - 1 Dec 2020

Jojima Teruo, Kogai Takahiko, Iijima Toshie, Kato Kanako, Sagara Masaaki, Kezuka Atsumi, Kase Masato, Sakurai Shintaro, Akimoto Kazumi, Sakumoto Junko, Namatame Takashi, Ueki Keisuke, Hishinuma Akira, Kamai Takao, Usui Isao, Aso Yoshimasa

Abstract excerpt

A monoallelic germline alteration of ARMC5 causes primary bilateral macronodular adrenal hyperplasia (PBMAH) with Cushing's syndrome via its subsequent somatic alteration on the other allele as the second hit. PBMAH is sometimes complicated with meningioma. Dependency of such a multi-organ disease on the second hit mechanism was reported before, but this finding has not been confirmed yet. We describe a case of a...

Topics

Join the communities discussing this publication.

Aged
Alleles
Armadillo Domain Proteins
Cushing Syndrome
Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Loss of Heterozygosity

Meningeal Neoplasms

Source

Identifiers

PMID: 33105102
DOI: 10.1530/EJE-20-0014

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic alteration of ARMC5 in a patient diagnosed with meningioma and primary macronodular adrenal hyperplasia: a case report.PMID 33105102Read ↗

Novel ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family reportSemantic proximity Read ↗

ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family ReportSemantic proximity Read ↗

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report.Semantic proximity Read ↗

Molecular and Clinical Evidence for an<i>ARMC5</i>Tumor Syndrome: Concurrent Inactivating Germline and Somatic Mutations Are Associated With Both Primary Macronodular Adrenal Hyperplasia and MeningiomaSemantic proximity Read ↗

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an updateSemantic proximity Read ↗

Familial bilateral macronodular adrenal hyperplasia due to a new ARMC 5 germline mutation. Clinical status and possible association with other neoplasms.Semantic proximity Read ↗

Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia.Semantic proximity Read ↗

Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?Semantic proximity Read ↗

Primary macronodular adrenal hyperplasia (PMAH) can be generated by a new ARMC5 germline variant (c.52C>T (p.Gln18X))Semantic proximity Read ↗

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia.Semantic proximity Read ↗

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations.Semantic proximity Read ↗

ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.