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Article

Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.

Journal of internal medicine - 1 Jun 1998

Romeo G, Ceccherini I, Celli J, Priolo M, Betsos N, Bonardi G, Seri M, Yin L, Lerone M, Jasonni V, Martucciello G

Abstract excerpt

In a few patients with Hirschsprung disease (HSCR) and no clinical symptoms of multiple endocrine neoplasia type 2 (MEN-2A) or medullary thyroid carcinoma (MTC), missense mutations in the cysteine residues 609 and 620 of the Ret gene have been identified. In several pedigrees with either MEN-2A o...

Topics

Drosophila Proteins
Female
Hirschsprung Disease
Humans
Male
Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2b
Mutation
Pedigree
Phenotype
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Proto-Oncogene Proteins

Proto-Oncogene Proteins c-ret

Receptor Protein-Tyrosine Kinases

Source

Identifiers

PMID: 9681852
DOI: 10.1046/j.1365-2796.1998.00332.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9681852-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.PMID 9681852Read ↗

Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.Semantic proximity Read ↗

Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.Semantic proximity Read ↗

The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.Semantic proximity Read ↗

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogeneSemantic proximity Read ↗

Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variation.Semantic proximity Read ↗

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.Semantic proximity Read ↗

Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds.Semantic proximity Read ↗

[Molecular biology, basic research and diagnosis of Hirschsprung's disease].Semantic proximity Read ↗

Multiple endocrine neoplasia type 2B and Hirschsprung's disease.Semantic proximity Read ↗

Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease.Semantic proximity Read ↗

RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease.Semantic proximity Read ↗

Co‐segregation of MEN2 and Hirschsprung's disease: The same mutation of <i>RET</i> with both gain and loss‐of‐function?Semantic proximity Read ↗

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