Traits

Traits linked to PTEN

phosphatase and tensin homolog

The Human Phenotype Ontology links 232 traits to PTEN, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Postnatal macrocephaly	Always
Abnormally large tongue	Very often (80–99%)
Benign eye tumor	Very often (80–99%)
Big calvaria	Very often (80–99%)
Conjunctival hamartoma	Very often (80–99%)
Open bite	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Adenoma sebaceum	Often (30–79%)
Big lower jaw	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Eye folds	Often (30–79%)
Grooved tongue	Often (30–79%)
High palate	Often (30–79%)
Large forehead	Often (30–79%)
Midface retrusion	Often (30–79%)
Prominent forehead	Often (30–79%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Long, narrow head	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Narrow palate	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Short chin	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Wide nose	Sometimes (5–29%)
Broad forehead	Not recorded
Decreased size of maxilla	Not recorded
Decreased width of the skull	Not recorded
Progressively abnormally enlarging cranium	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Autism	Always
Noncancerous growth of membranes covering brain	Always
Oligodendroglioma	Always
Ataxia	Very often (80–99%)
Autism spectrum disorder	Very often (80–99%)
Cranial nerve paralysis	Very often (80–99%)
Enlarged cerebellum	Very often (80–99%)
Epilepsy	Very often (80–99%)
Headache	Very often (80–99%)
Intellectual disability	Very often (80–99%)
More grooves in brain	Very often (80–99%)
Rise in pressure inside skull	Very often (80–99%)
Too much cerebrospinal fluid in the brain	Very often (80–99%)
Cognitive impairment	Often (30–79%)
Communicating hydrocephalus	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Global developmental delay	Often (30–79%)
Motor delay	Often (30–79%)
Short attention span	Often (30–79%)
Speech apraxia	Often (30–79%)
Abnormal speech pattern	Sometimes (5–29%)
Abnormality of the cerebellum	Sometimes (5–29%)
Delayed motor skills	Sometimes (5–29%)
Hemangioblastoma	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Tumors of the central nervous system	Sometimes (5–29%)
Attention deficit	Rarely (1–4%)
Dysplastic gangliocytoma of the cerebellum	Not recorded
Hemimegalencephaly	Not recorded
Intention tremor	Not recorded

Abnormality of the integument

Trait	How often it is seen
Epidermal nevus	Very often (80–99%)
Excessive wrinkled skin	Very often (80–99%)
Firm lump under the skin	Very often (80–99%)
Flat, discolored area of skin	Very often (80–99%)
Generalized hyperkeratosis	Very often (80–99%)
Irregular hyperpigmentation	Very often (80–99%)
Mole	Very often (80–99%)
Papilloma	Very often (80–99%)
Papule	Very often (80–99%)
Skin cancer	Very often (80–99%)
Subcutaneous lipoma	Very often (80–99%)
Acrokeratosis	Often (30–79%)
Beauty mark	Often (30–79%)
Coarse hair	Often (30–79%)
Hanging skin	Often (30–79%)
Shagreen patch	Often (30–79%)
Trichilemmoma	Often (30–79%)
Birthmark	Sometimes (5–29%)
Multiple birthmarks	Sometimes (5–29%)
Numerous moles	Sometimes (5–29%)
Patchy loss of skin color	Sometimes (5–29%)
Skin tags	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Arteriovenous malformation	Very often (80–99%)
Lymphangioma	Very often (80–99%)
Poorly functioning veins	Very often (80–99%)
Strawberry birthmark	Very often (80–99%)
Strawberry mark	Very often (80–99%)
Visceral angiomatosis	Very often (80–99%)
Collection of dilated blood vessels that forms mass	Often (30–79%)
Dilation of Virchow-Robin spaces	Often (30–79%)
Mucosal telangiectasiae	Often (30–79%)
Abnormality of the heart	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Angina pectoris	Sometimes (5–29%)
Bulge in wall of large artery that carries blood away from heart	Sometimes (5–29%)
Cardiac failure	Sometimes (5–29%)
Cutis marmorata	Sometimes (5–29%)
Enlarged thymus	Sometimes (5–29%)
Increased spleen size	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Spider veins	Sometimes (5–29%)
Abnormality of the vasculature	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bone overgrowth	Very often (80–99%)
Fatty lump	Very often (80–99%)
Double-Jointed	Often (30–79%)
Formation of new noncancerous bone on top of existing bone	Often (30–79%)
Funnel chest	Often (30–79%)
Low muscle tone	Often (30–79%)
Low solidness and mass of the bones	Often (30–79%)
Scoliosis	Often (30–79%)
Abdominal wall muscle weakness	Sometimes (5–29%)
Abnormal skeletal development	Sometimes (5–29%)
Bone cyst	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Multiple fatty lumps	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)
Recurrent fractures	Sometimes (5–29%)
Underdeveloped middle portion of the collarbone	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal fallopian tube morphology	Very often (80–99%)
Ovarian cancer	Very often (80–99%)
Abnormality of the penis	Often (30–79%)
Hydrocele testis	Often (30–79%)
Penile freckling	Often (30–79%)
Abnormality of the kidney	Sometimes (5–29%)
Abnormality of the uterus	Sometimes (5–29%)
Cancer starting in small tubes in kidneys	Sometimes (5–29%)
Endometrial carcinoma	Sometimes (5–29%)
Enlarged ovaries with cysts	Sometimes (5–29%)
Freckled genitalia	Sometimes (5–29%)
Polycystic ovaries	Sometimes (5–29%)
Prostate cancer	Sometimes (5–29%)
Uterine cancer	Sometimes (5–29%)
Ovarian carcinoma	Not recorded
Ovarian cyst	Not recorded
Transitional cell carcinoma of the bladder	Not recorded
Varicocele	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Adenomatous colonic polyposis	Always
Abnormality of the large intestine	Very often (80–99%)
Colorectal polyposis	Very often (80–99%)
Diarrhea	Very often (80–99%)
Growths in inner lining of intestine	Very often (80–99%)
Hamartomatous polyposis	Very often (80–99%)
Nausea and vomiting	Very often (80–99%)
Primary peritoneal carcinoma	Very often (80–99%)
Abdominal pain	Often (30–79%)
Protein-losing enteropathy	Often (30–79%)
Cancer of the pancreas	Sometimes (5–29%)
Intussusception	Sometimes (5–29%)
Rectum protrudes through anus	Sometimes (5–29%)
Enlarged liver	Rarely (1–4%)
Lymphoid nodular hyperplasia	Rarely (1–4%)
Colonic diverticula	Not recorded

Abnormality of limbs

Trait	How often it is seen
Back knee	Very often (80–99%)
Extra finger	Very often (80–99%)
Left and right leg differ in length or width	Very often (80–99%)
Thickening of palms and soles	Very often (80–99%)
Unequal size of arms	Very often (80–99%)
Broad thumb	Sometimes (5–29%)
Clubbing of fingers	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)
Talipes	Sometimes (5–29%)
Wide toe bones	Sometimes (5–29%)
Duplication of bones of the toes	Rarely (1–4%)
Extra thumb	Rarely (1–4%)
Thickening of the outer layer of the skin of the palms and soles	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Enlarged thyroid gland in neck	Very often (80–99%)
Abnormality of the parathyroid gland	Often (30–79%)
Abnormality of the thyroid gland	Often (30–79%)
Neoplasm of the thyroid gland	Often (30–79%)
Follicular thyroid carcinoma	Sometimes (5–29%)
Hashimoto thyroiditis	Sometimes (5–29%)
Neoplasm of the adrenal cortex	Sometimes (5–29%)
Thyroid carcinoma	Sometimes (5–29%)
Hurthle cell thyroid adenoma	Rarely (1–4%)
Overactive thyroid	Not recorded
Thyroid adenoma	Not recorded
Thyroid gland inflammation	Not recorded
Underactive thyroid	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Gastrointestinal bleeding	Very often (80–99%)
Low number of red blood cells or hemoglobin	Very often (80–99%)
Black feces	Often (30–79%)
Bleeding below the skin	Often (30–79%)
Bleeding tendency	Often (30–79%)
Rectal bleeding	Often (30–79%)
Refractory anemia	Often (30–79%)
Bleeding within the skull	Sometimes (5–29%)
Cancer of lymphatic system	Sometimes (5–29%)
Intestinal bleeding	Sometimes (5–29%)
Decreased blood lymphocyte number	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of the pupil	Very often (80–99%)
Close sighted	Very often (80–99%)
Clouding of the lens of the eye	Often (30–79%)
Different colored eyes	Often (30–79%)
Retinal detachment	Often (30–79%)
Wide-set eyes	Often (30–79%)
Optic nerve issue	Sometimes (5–29%)
Angioid streaks	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Birth weight > 90th percentile	Often (30–79%)
General overgrowth	Often (30–79%)
Wasting syndrome	Often (30–79%)
Faltering weight	Sometimes (5–29%)
Tall stature	Sometimes (5–29%)
Obesity	Not recorded

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Often (30–79%)
Fibroma	Often (30–79%)
Hamartoma	Often (30–79%)
Cancer of skin pigment cells	Sometimes (5–29%)
Carcinoma	Not recorded

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Very often (80–99%)
Breast tumor	Very often (80–99%)
Fibroadenoma of the breast	Often (30–79%)
Enlarged male breast	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Large ears	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Low albumin	Often (30–79%)
Low blood sugar	Sometimes (5–29%)
Swelling caused by excess lymph fluid under skin	Sometimes (5–29%)
Fatty infiltration of liver	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Cellular immunodeficiency	Sometimes (5–29%)
Recurrent infections	Rarely (1–4%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Bronchogenic cyst	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to PTEN and how often each is seen. Find out more at hpo.jax.org.

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