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	Frequenza di osservazione
Adenomatous colonic polyposis	Sempre
Fundic gland polyposis	Sempre
Abnormality of the abdominal wall	Molto spesso (80–99%)
Colon cancer	Molto spesso (80–99%)
Colorectal polyposis	Molto spesso (80–99%)
Duodenal polyposis	Molto spesso (80–99%)
Gastrointestinal desmoid tumor	Molto spesso (80–99%)
Gastrointestinal tract tumor	Molto spesso (80–99%)
Abdominal pain	Spesso (30–79%)
Constipation	Spesso (30–79%)
Diarrhea	Spesso (30–79%)
Gastric adenocarcinoma	Spesso (30–79%)
Growths in inner lining of intestine	Spesso (30–79%)
Large intestinal polyposis	Spesso (30–79%)
Malabsorption	Spesso (30–79%)
Multiple gastric polyps	Spesso (30–79%)
Rectal polyposis	Spesso (30–79%)
Stomach tumor	Spesso (30–79%)
Adenocarcinoma of the colon	A volte (5–29%)
Duodenal adenocarcinoma	A volte (5–29%)
Intestinal obstruction	A volte (5–29%)
Adenocarcinoma of the small intestine	Raramente (1–4%)
Bile duct cancer	Raramente (1–4%)
Biliary tract obstruction	Raramente (1–4%)
Cancer of the pancreas	Raramente (1–4%)
Gastrointestinal carcinoma	Raramente (1–4%)
Hepatoblastoma	Raramente (1–4%)
Neoplasm of the gallbladder	Raramente (1–4%)
Pancreatic adenocarcinoma	Raramente (1–4%)
Pancreatic inflammation	Raramente (1–4%)
Stomach cancer	Raramente (1–4%)
Hepatocellular carcinoma	Non registrato
Hereditary nonpolyposis colorectal carcinoma	Non registrato
Micronodular cirrhosis	Non registrato
Small intestine carcinoid	Non registrato
Subacute progressive viral hepatitis	Non registrato

Abnormality of head or neck

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

Abnormality of limbs

Trait	Frequenza di osservazione
Abnormal shape of long bones of hand	Molto spesso (80–99%)
Finger syndactyly	Molto spesso (80–99%)
Fusion of wrist bones	Molto spesso (80–99%)
Oligodactyly	Molto spesso (80–99%)
Fused forearm bones	Spesso (30–79%)
Fused toes	Spesso (30–79%)
Short thumb	Spesso (30–79%)
Underdeveloped inner large forearm bone	Spesso (30–79%)
Underdeveloped outer large forearm bone	Spesso (30–79%)
Elbow dislocation	A volte (5–29%)
Hip dislocation	A volte (5–29%)
Missing toes	A volte (5–29%)
Single transverse palmar crease	A volte (5–29%)
Smaller or shorter than typical limbs	A volte (5–29%)

Abnormality of the integument

Trait	Frequenza di osservazione
Absent fingernail	Molto spesso (80–99%)
Firm lump under the skin	Molto spesso (80–99%)
Absent toenail	Spesso (30–79%)
Early balding	Spesso (30–79%)
Epidermoid cyst	Spesso (30–79%)
Abnormal fingerprints	A volte (5–29%)
Papilloma	A volte (5–29%)
Skin cancer	A volte (5–29%)
Localized skin lesion	Raramente (1–4%)
Pilomatrixoma	Raramente (1–4%)
Keloids	Non registrato
Patchy darkened skin	Non registrato

Abnormality of the musculoskeletal system

Trait	Frequenza di osservazione
Fusion of joints	Molto spesso (80–99%)
Muscular abnormality	Molto spesso (80–99%)
Osteoma	Spesso (30–79%)
Abnormal vertebral body morphology	A volte (5–29%)
Abnormality of the ribs	A volte (5–29%)
Breakdown of bone	A volte (5–29%)
Generalized decreased muscle tone	A volte (5–29%)
Limitation of joint mobility	A volte (5–29%)
Scoliosis	A volte (5–29%)
Spastic walk	A volte (5–29%)
Fatty lump	Raramente (1–4%)
Multiple fatty lumps	Non registrato

Abnormality of the endocrine system

Trait	Frequenza di osservazione
Thyroid nodule	Spesso (30–79%)
Abnormality of the thyroid gland	A volte (5–29%)
Adrenocortical adenoma	A volte (5–29%)
Neoplasm of the adrenal gland	A volte (5–29%)
Papillary thyroid carcinoma	A volte (5–29%)
Thyroid adenoma	A volte (5–29%)
Underactive thyroid	A volte (5–29%)
Adrenocortical carcinoma	Raramente (1–4%)
Enlarged thyroid gland in neck	Raramente (1–4%)
Noncancerous tumor in pituitary gland	Raramente (1–4%)
Thyroid gland inflammation	Raramente (1–4%)

Abnormality of the genitourinary system

Trait	Frequenza di osservazione
Abnormality of the upper urinary tract	A volte (5–29%)
Absent/small kidney	A volte (5–29%)
Crossed fused renal ectopia	A volte (5–29%)
Hydronephrosis	A volte (5–29%)
Multiple kidney cysts	A volte (5–29%)
Uterine leiomyoma	A volte (5–29%)
Abnormality of the kidney	Raramente (1–4%)
Cancer starting in small tubes in kidneys	Non registrato
Transitional cell carcinoma of the bladder	Non registrato
Uterine leiomyosarcoma	Non registrato

Abnormality of the eye

Trait	Frequenza di osservazione
Congenital hypertrophy of retinal pigment epithelium	Molto spesso (80–99%)
Abnormal retinal pigmentation	Spesso (30–79%)
Wide-set eyes	Spesso (30–79%)
Bulging eye	A volte (5–29%)
Clouding of the lens of the eye	A volte (5–29%)
Drooping upper eyelid	A volte (5–29%)
Involuntary, rapid, rhythmic eye movements	A volte (5–29%)
Optic disc hypoplasia	A volte (5–29%)
Posterior polar cataract	A volte (5–29%)

Abnormality of the nervous system

Trait	Frequenza di osservazione
Intellectual disability, mild	Spesso (30–79%)
Reading disability	Spesso (30–79%)
Astrocytoma	A volte (5–29%)
Brain neoplasm	Raramente (1–4%)
Ependymoma	Raramente (1–4%)
Medulloblastoma	Raramente (1–4%)

Abnormal tissue mass

Trait	Frequenza di osservazione
Fibroma	Molto spesso (80–99%)
Angiofibromas	A volte (5–29%)
Soft tissue neoplasm	Raramente (1–4%)
Carcinoma	Non registrato

Abnormality of blood and blood-forming tissues

Trait	Frequenza di osservazione
Intestinal bleeding	Spesso (30–79%)
Iron deficiency anemia	Spesso (30–79%)
Black feces	A volte (5–29%)
Gastrointestinal bleeding	A volte (5–29%)

Constitutional symptom

Trait	Frequenza di osservazione
Muscle ache	Spesso (30–79%)
Chest pain	A volte (5–29%)
Joint pain	A volte (5–29%)

Abnormality of the breast

Trait	Frequenza di osservazione
Breast cancer	A volte (5–29%)
Fibroadenoma of the breast	A volte (5–29%)

Abnormality of the ear

Trait	Frequenza di osservazione
Hearing impairment	A volte (5–29%)
Prominent ear	A volte (5–29%)

Abnormality of the respiratory system

Trait	Frequenza di osservazione
Obstructive lung disease	A volte (5–29%)
Softening of voice box tissue	A volte (5–29%)

Abnormality of the immune system

Trait	Frequenza di osservazione
Infection in blood stream	A volte (5–29%)

Laboratory abnormality

Trait	Frequenza di osservazione
Increased level of L-fucose in urine	Non registrato

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

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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