Traits

Traits linked to APC

APC regulator of Wnt signaling pathway

The Human Phenotype Ontology links 158 traits to APC, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	How often it is seen
Adenomatous colonic polyposis	Always
Fundic gland polyposis	Always
Abnormality of the abdominal wall	Very often (80–99%)
Colon cancer	Very often (80–99%)
Colorectal polyposis	Very often (80–99%)
Duodenal polyposis	Very often (80–99%)
Gastrointestinal desmoid tumor	Very often (80–99%)
Gastrointestinal tract tumor	Very often (80–99%)
Abdominal pain	Often (30–79%)
Constipation	Often (30–79%)
Diarrhea	Often (30–79%)
Gastric adenocarcinoma	Often (30–79%)
Growths in inner lining of intestine	Often (30–79%)
Large intestinal polyposis	Often (30–79%)
Malabsorption	Often (30–79%)
Multiple gastric polyps	Often (30–79%)
Rectal polyposis	Often (30–79%)
Stomach tumor	Often (30–79%)
Adenocarcinoma of the colon	Sometimes (5–29%)
Duodenal adenocarcinoma	Sometimes (5–29%)
Intestinal obstruction	Sometimes (5–29%)
Adenocarcinoma of the small intestine	Rarely (1–4%)
Bile duct cancer	Rarely (1–4%)
Biliary tract obstruction	Rarely (1–4%)
Cancer of the pancreas	Rarely (1–4%)
Gastrointestinal carcinoma	Rarely (1–4%)
Hepatoblastoma	Rarely (1–4%)
Neoplasm of the gallbladder	Rarely (1–4%)
Pancreatic adenocarcinoma	Rarely (1–4%)
Pancreatic inflammation	Rarely (1–4%)
Stomach cancer	Rarely (1–4%)
Hepatocellular carcinoma	Not recorded
Hereditary nonpolyposis colorectal carcinoma	Not recorded
Micronodular cirrhosis	Not recorded
Small intestine carcinoid	Not recorded
Subacute progressive viral hepatitis	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Frontal bossing	Very often (80–99%)
Abnormal dentition	Often (30–79%)
Abnormality of canine	Often (30–79%)
Big lower jaw	Often (30–79%)
Broad nasal tip	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Full upper lip	Often (30–79%)
High forehead	Often (30–79%)
High palate	Often (30–79%)
Long face	Often (30–79%)
Long philtrum	Often (30–79%)
Narrow mouth	Often (30–79%)
Relatively large head	Often (30–79%)
Abnormal cementum morphology	Sometimes (5–29%)
Abnormal tooth enamel	Sometimes (5–29%)
Beaked nose	Sometimes (5–29%)
Dental cavities	Sometimes (5–29%)
Everted eyelid	Sometimes (5–29%)
Extra teeth	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)
Failure of eruption of tooth	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Low hairline at back of neck	Sometimes (5–29%)
Odontoma	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Zygomatic flattening	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormal shape of long bones of hand	Very often (80–99%)
Finger syndactyly	Very often (80–99%)
Fusion of wrist bones	Very often (80–99%)
Oligodactyly	Very often (80–99%)
Fused forearm bones	Often (30–79%)
Fused toes	Often (30–79%)
Short thumb	Often (30–79%)
Underdeveloped inner large forearm bone	Often (30–79%)
Underdeveloped outer large forearm bone	Often (30–79%)
Elbow dislocation	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Missing toes	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)
Smaller or shorter than typical limbs	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Absent fingernail	Very often (80–99%)
Firm lump under the skin	Very often (80–99%)
Absent toenail	Often (30–79%)
Early balding	Often (30–79%)
Epidermoid cyst	Often (30–79%)
Abnormal fingerprints	Sometimes (5–29%)
Papilloma	Sometimes (5–29%)
Skin cancer	Sometimes (5–29%)
Localized skin lesion	Rarely (1–4%)
Pilomatrixoma	Rarely (1–4%)
Keloids	Not recorded
Patchy darkened skin	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Fusion of joints	Very often (80–99%)
Muscular abnormality	Very often (80–99%)
Osteoma	Often (30–79%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Abnormality of the ribs	Sometimes (5–29%)
Breakdown of bone	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)
Limitation of joint mobility	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Spastic walk	Sometimes (5–29%)
Fatty lump	Rarely (1–4%)
Multiple fatty lumps	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Thyroid nodule	Often (30–79%)
Abnormality of the thyroid gland	Sometimes (5–29%)
Adrenocortical adenoma	Sometimes (5–29%)
Neoplasm of the adrenal gland	Sometimes (5–29%)
Papillary thyroid carcinoma	Sometimes (5–29%)
Thyroid adenoma	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)
Adrenocortical carcinoma	Rarely (1–4%)
Enlarged thyroid gland in neck	Rarely (1–4%)
Noncancerous tumor in pituitary gland	Rarely (1–4%)
Thyroid gland inflammation	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the upper urinary tract	Sometimes (5–29%)
Absent/small kidney	Sometimes (5–29%)
Crossed fused renal ectopia	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Multiple kidney cysts	Sometimes (5–29%)
Uterine leiomyoma	Sometimes (5–29%)
Abnormality of the kidney	Rarely (1–4%)
Cancer starting in small tubes in kidneys	Not recorded
Transitional cell carcinoma of the bladder	Not recorded
Uterine leiomyosarcoma	Not recorded

Abnormality of the eye

Trait	How often it is seen
Congenital hypertrophy of retinal pigment epithelium	Very often (80–99%)
Abnormal retinal pigmentation	Often (30–79%)
Wide-set eyes	Often (30–79%)
Bulging eye	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic disc hypoplasia	Sometimes (5–29%)
Posterior polar cataract	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability, mild	Often (30–79%)
Reading disability	Often (30–79%)
Astrocytoma	Sometimes (5–29%)
Brain neoplasm	Rarely (1–4%)
Ependymoma	Rarely (1–4%)
Medulloblastoma	Rarely (1–4%)

Abnormal tissue mass

Trait	How often it is seen
Fibroma	Very often (80–99%)
Angiofibromas	Sometimes (5–29%)
Soft tissue neoplasm	Rarely (1–4%)
Carcinoma	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Intestinal bleeding	Often (30–79%)
Iron deficiency anemia	Often (30–79%)
Black feces	Sometimes (5–29%)
Gastrointestinal bleeding	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Muscle ache	Often (30–79%)
Chest pain	Sometimes (5–29%)
Joint pain	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Sometimes (5–29%)
Fibroadenoma of the breast	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Obstructive lung disease	Sometimes (5–29%)
Softening of voice box tissue	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Infection in blood stream	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Increased level of L-fucose in urine	Not recorded

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 APC and how often each is seen. Find out more at hpo.jax.org.

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