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	Kaip dažnai pasireiškia
Adenomatous colonic polyposis	Visada
Fundic gland polyposis	Visada
Abnormality of the abdominal wall	Labai dažnai (80–99%)
Colon cancer	Labai dažnai (80–99%)
Colorectal polyposis	Labai dažnai (80–99%)
Duodenal polyposis	Labai dažnai (80–99%)
Gastrointestinal desmoid tumor	Labai dažnai (80–99%)
Gastrointestinal tract tumor	Labai dažnai (80–99%)
Abdominal pain	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Diarrhea	Dažnai (30–79%)
Gastric adenocarcinoma	Dažnai (30–79%)
Growths in inner lining of intestine	Dažnai (30–79%)
Large intestinal polyposis	Dažnai (30–79%)
Malabsorption	Dažnai (30–79%)
Multiple gastric polyps	Dažnai (30–79%)
Rectal polyposis	Dažnai (30–79%)
Stomach tumor	Dažnai (30–79%)
Adenocarcinoma of the colon	Kartais (5–29%)
Duodenal adenocarcinoma	Kartais (5–29%)
Intestinal obstruction	Kartais (5–29%)
Adenocarcinoma of the small intestine	Retai (1–4 %)
Bile duct cancer	Retai (1–4 %)
Biliary tract obstruction	Retai (1–4 %)
Cancer of the pancreas	Retai (1–4 %)
Gastrointestinal carcinoma	Retai (1–4 %)
Hepatoblastoma	Retai (1–4 %)
Neoplasm of the gallbladder	Retai (1–4 %)
Pancreatic adenocarcinoma	Retai (1–4 %)
Pancreatic inflammation	Retai (1–4 %)
Stomach cancer	Retai (1–4 %)
Hepatocellular carcinoma	Neužfiksuota
Hereditary nonpolyposis colorectal carcinoma	Neužfiksuota
Micronodular cirrhosis	Neužfiksuota
Small intestine carcinoid	Neužfiksuota
Subacute progressive viral hepatitis	Neužfiksuota

Abnormality of head or neck

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

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Abnormal shape of long bones of hand	Labai dažnai (80–99%)
Finger syndactyly	Labai dažnai (80–99%)
Fusion of wrist bones	Labai dažnai (80–99%)
Oligodactyly	Labai dažnai (80–99%)
Fused forearm bones	Dažnai (30–79%)
Fused toes	Dažnai (30–79%)
Short thumb	Dažnai (30–79%)
Underdeveloped inner large forearm bone	Dažnai (30–79%)
Underdeveloped outer large forearm bone	Dažnai (30–79%)
Elbow dislocation	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Missing toes	Kartais (5–29%)
Single transverse palmar crease	Kartais (5–29%)
Smaller or shorter than typical limbs	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Absent fingernail	Labai dažnai (80–99%)
Firm lump under the skin	Labai dažnai (80–99%)
Absent toenail	Dažnai (30–79%)
Early balding	Dažnai (30–79%)
Epidermoid cyst	Dažnai (30–79%)
Abnormal fingerprints	Kartais (5–29%)
Papilloma	Kartais (5–29%)
Skin cancer	Kartais (5–29%)
Localized skin lesion	Retai (1–4 %)
Pilomatrixoma	Retai (1–4 %)
Keloids	Neužfiksuota
Patchy darkened skin	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Fusion of joints	Labai dažnai (80–99%)
Muscular abnormality	Labai dažnai (80–99%)
Osteoma	Dažnai (30–79%)
Abnormal vertebral body morphology	Kartais (5–29%)
Abnormality of the ribs	Kartais (5–29%)
Breakdown of bone	Kartais (5–29%)
Generalized decreased muscle tone	Kartais (5–29%)
Limitation of joint mobility	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Spastic walk	Kartais (5–29%)
Fatty lump	Retai (1–4 %)
Multiple fatty lumps	Neužfiksuota

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Thyroid nodule	Dažnai (30–79%)
Abnormality of the thyroid gland	Kartais (5–29%)
Adrenocortical adenoma	Kartais (5–29%)
Neoplasm of the adrenal gland	Kartais (5–29%)
Papillary thyroid carcinoma	Kartais (5–29%)
Thyroid adenoma	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)
Adrenocortical carcinoma	Retai (1–4 %)
Enlarged thyroid gland in neck	Retai (1–4 %)
Noncancerous tumor in pituitary gland	Retai (1–4 %)
Thyroid gland inflammation	Retai (1–4 %)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Abnormality of the upper urinary tract	Kartais (5–29%)
Absent/small kidney	Kartais (5–29%)
Crossed fused renal ectopia	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Multiple kidney cysts	Kartais (5–29%)
Uterine leiomyoma	Kartais (5–29%)
Abnormality of the kidney	Retai (1–4 %)
Cancer starting in small tubes in kidneys	Neužfiksuota
Transitional cell carcinoma of the bladder	Neužfiksuota
Uterine leiomyosarcoma	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Congenital hypertrophy of retinal pigment epithelium	Labai dažnai (80–99%)
Abnormal retinal pigmentation	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Bulging eye	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Optic disc hypoplasia	Kartais (5–29%)
Posterior polar cataract	Kartais (5–29%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Intellectual disability, mild	Dažnai (30–79%)
Reading disability	Dažnai (30–79%)
Astrocytoma	Kartais (5–29%)
Brain neoplasm	Retai (1–4 %)
Ependymoma	Retai (1–4 %)
Medulloblastoma	Retai (1–4 %)

Abnormal tissue mass

Trait	Kaip dažnai pasireiškia
Fibroma	Labai dažnai (80–99%)
Angiofibromas	Kartais (5–29%)
Soft tissue neoplasm	Retai (1–4 %)
Carcinoma	Neužfiksuota

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Intestinal bleeding	Dažnai (30–79%)
Iron deficiency anemia	Dažnai (30–79%)
Black feces	Kartais (5–29%)
Gastrointestinal bleeding	Kartais (5–29%)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Muscle ache	Dažnai (30–79%)
Chest pain	Kartais (5–29%)
Joint pain	Kartais (5–29%)

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Breast cancer	Kartais (5–29%)
Fibroadenoma of the breast	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Hearing impairment	Kartais (5–29%)
Prominent ear	Kartais (5–29%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Obstructive lung disease	Kartais (5–29%)
Softening of voice box tissue	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Infection in blood stream	Kartais (5–29%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Increased level of L-fucose in urine	Neužfiksuota

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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