Gene Information

PTEN

phosphatase and tensin homolog [Source:HGNC Symbol;Acc:HGNC:9588]

protein_codingChromosome 10ENSG00000171862

Overview

PTEN variants are associated with 14 diseases including Lhermitte-Duclos disease and laryngeal squamous cell carcinoma and 12 others, with 84 documented clinical phenotypes.

Associated Diseases

The PTEN gene is associated with 14 medical conditions, including:

Lhermitte-Duclos disease

MONDO:0019002

laryngeal squamous cell carcinoma

MONDO:0005595

hypopharynx squamous cell carcinoma

MONDO:0044638

Cowden disease

MONDO:0016063

oral cavity squamous cell carcinoma

MONDO:0004958

oropharynx squamous cell carcinoma

MONDO:0044704

paranasal sinus squamous cell carcinoma

MONDO:0044705

squamous cell carcinoma of lip

MONDO:0021427

segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

MONDO:0015293

hereditary breast ovarian cancer syndrome

MONDO:0003582

Proteus-like syndrome

MONDO:0017571

macrocephaly-autism syndrome

MONDO:0011537

... and 2 more diseases

Clinical Phenotypes

Research has identified 84 phenotypic features associated with PTEN variants:

Overgrowth

HP:0001548

Hemimegalencephaly

HP:0007206

Breast carcinoma

HP:0003002

Obesity

HP:0001513

Thyroiditis

HP:0100646

Skin tags

HP:0010609

Decreased circulating immunoglobulin concentration

HP:0004313

Autosomal dominant inheritance

HP:0000006

Cutis laxa

HP:0000973

Acrokeratosis

HP:0200016

Joint hypermobility

HP:0001382

Intellectual disability

HP:0001249

Goiter

HP:0000853

Autosomal dominant inheritance

HP:0000006

Angioid streaks of the fundus

HP:0001102

View all

ClinVar Variants

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

NM_000314.8(PTEN):c.274G>A (p.Asp92Asn)

Likely pathogenic

VCV004527406