Gene Information

CDH1

cadherin 1 [Source:HGNC Symbol;Acc:HGNC:1748]

protein_codingChromosome 16ENSG00000039068

Overview

CDH1 variants are associated with 5 diseases including cleft lip/palate and hereditary diffuse gastric adenocarcinoma and 3 others, with 38 documented clinical phenotypes.

Associated Diseases

The CDH1 gene is associated with 5 medical conditions, including:

cleft lip/palate

MONDO:0016044

hereditary diffuse gastric adenocarcinoma

MONDO:0007648

blepharocheilodontic syndrome

MONDO:0007339

prostate cancer, hereditary

MONDO:0700275

hereditary breast carcinoma

MONDO:0016419

Clinical Phenotypes

Research has identified 38 phenotypic features associated with CDH1 variants:

Lagophthalmos

HP:0030001

Distichiasis

HP:0009743

Autosomal dominant inheritance

HP:0000006

Stomach cancer

HP:0012126

Typified by somatic mosaicism

HP:0001442

Adult onset

HP:0003581

Autosomal dominant inheritance

HP:0000006

High forehead

HP:0000348

Choanal atresia

HP:0000453

Cleft palate

HP:0000175

Clinodactyly

HP:0030084

Ovarian papillary adenocarcinoma

HP:0006774

Nail dysplasia

HP:0002164

Sparse hair

HP:0008070

Flat face

HP:0012368

View all

ClinVar Variants

ClinVar contains 10 variants associated with CDH1. Below are some notable variants:

NC_000016.9:g.(?_68771318)_(68772315_?)del

Likely pathogenic

VCV004526425

Review: criteria provided, single submitter

NM_004360.5(CDH1):c.480del (p.Ile161fs)

Pathogenic

VCV004526018

Review: criteria provided, single submitter

NM_004360.5(CDH1):c.2164+2T>G

VCV004414522

NM_004360.5(CDH1):c.1937-18T>G

VCV004414521

NM_004360.5(CDH1):c.833G>T (p.Gly278Val)

VCV004414512

Recent Publications

There are 2,186 publications about CDH1 indexed in PubMed. Below are some recent papers:

A systems biology approach to identify key targets in KRAS/BRAF-mutated colorectal cancer.

Shiravi S, Mottaghi-Dastjerdi N, Shahbazi B

PMID: 41258181

•

2025 Nov 19

•

Discov Oncol

Weighted Correlation Gene Networks and Gene Set Enrichment Analysis Revealed New Potential Genetic Etiologies Associated with Cryptorchidism.

Huang W, Liu J, Liu Z

PMID: 41255033

•

2025 Nov 9

•

Urol J

PTPRN promotes glioma cell proliferation, migration, and invasion by regulating the EMT pathway.

Wang S, Zhao X, Li M

PMID: 41244147

•

2025

•

Int J Clin Exp Pathol

Epigenetic mechanisms and therapeutic advances in breast cancer: From molecular insights to clinical applications.

Mir SM, Landry JW, Das SK

PMID: 41242857

•

2025

•

Adv Cancer Res

Scraping Without Endothelial Keratoplasty: A Pilot Laboratory Investigation of an Innovative Approach to Endothelial Regeneration Therapy.

Parekh M, Wallace A, Levis HJ

PMID: 41236377

•

2025 Oct 2

•

Cornea

View all 2,186 publications on PubMed →

Analyze CDH1 Variants with AI

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Trusted Data Sources

EnsemblMonarch InitiativeClinVarGeneReviewsPubMed

Last updated: 11/20/2025