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	Kui sageli seda täheldatakse
Adenomatous colonic polyposis	Alati
Fundic gland polyposis	Alati
Abnormality of the abdominal wall	Väga sageli (80–99%)
Colon cancer	Väga sageli (80–99%)
Colorectal polyposis	Väga sageli (80–99%)
Duodenal polyposis	Väga sageli (80–99%)
Gastrointestinal desmoid tumor	Väga sageli (80–99%)
Gastrointestinal tract tumor	Väga sageli (80–99%)
Abdominal pain	Sageli (30–79%)
Constipation	Sageli (30–79%)
Diarrhea	Sageli (30–79%)
Gastric adenocarcinoma	Sageli (30–79%)
Growths in inner lining of intestine	Sageli (30–79%)
Large intestinal polyposis	Sageli (30–79%)
Malabsorption	Sageli (30–79%)
Multiple gastric polyps	Sageli (30–79%)
Rectal polyposis	Sageli (30–79%)
Stomach tumor	Sageli (30–79%)
Adenocarcinoma of the colon	Mõnikord (5–29%)
Duodenal adenocarcinoma	Mõnikord (5–29%)
Intestinal obstruction	Mõnikord (5–29%)
Adenocarcinoma of the small intestine	Harva (1–4%)
Bile duct cancer	Harva (1–4%)
Biliary tract obstruction	Harva (1–4%)
Cancer of the pancreas	Harva (1–4%)
Gastrointestinal carcinoma	Harva (1–4%)
Hepatoblastoma	Harva (1–4%)
Neoplasm of the gallbladder	Harva (1–4%)
Pancreatic adenocarcinoma	Harva (1–4%)
Pancreatic inflammation	Harva (1–4%)
Stomach cancer	Harva (1–4%)
Hepatocellular carcinoma	Pole registreeritud
Hereditary nonpolyposis colorectal carcinoma	Pole registreeritud
Micronodular cirrhosis	Pole registreeritud
Small intestine carcinoid	Pole registreeritud
Subacute progressive viral hepatitis	Pole registreeritud

Abnormality of head or neck

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

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Abnormal shape of long bones of hand	Väga sageli (80–99%)
Finger syndactyly	Väga sageli (80–99%)
Fusion of wrist bones	Väga sageli (80–99%)
Oligodactyly	Väga sageli (80–99%)
Fused forearm bones	Sageli (30–79%)
Fused toes	Sageli (30–79%)
Short thumb	Sageli (30–79%)
Underdeveloped inner large forearm bone	Sageli (30–79%)
Underdeveloped outer large forearm bone	Sageli (30–79%)
Elbow dislocation	Mõnikord (5–29%)
Hip dislocation	Mõnikord (5–29%)
Missing toes	Mõnikord (5–29%)
Single transverse palmar crease	Mõnikord (5–29%)
Smaller or shorter than typical limbs	Mõnikord (5–29%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Absent fingernail	Väga sageli (80–99%)
Firm lump under the skin	Väga sageli (80–99%)
Absent toenail	Sageli (30–79%)
Early balding	Sageli (30–79%)
Epidermoid cyst	Sageli (30–79%)
Abnormal fingerprints	Mõnikord (5–29%)
Papilloma	Mõnikord (5–29%)
Skin cancer	Mõnikord (5–29%)
Localized skin lesion	Harva (1–4%)
Pilomatrixoma	Harva (1–4%)
Keloids	Pole registreeritud
Patchy darkened skin	Pole registreeritud

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Fusion of joints	Väga sageli (80–99%)
Muscular abnormality	Väga sageli (80–99%)
Osteoma	Sageli (30–79%)
Abnormal vertebral body morphology	Mõnikord (5–29%)
Abnormality of the ribs	Mõnikord (5–29%)
Breakdown of bone	Mõnikord (5–29%)
Generalized decreased muscle tone	Mõnikord (5–29%)
Limitation of joint mobility	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Spastic walk	Mõnikord (5–29%)
Fatty lump	Harva (1–4%)
Multiple fatty lumps	Pole registreeritud

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Thyroid nodule	Sageli (30–79%)
Abnormality of the thyroid gland	Mõnikord (5–29%)
Adrenocortical adenoma	Mõnikord (5–29%)
Neoplasm of the adrenal gland	Mõnikord (5–29%)
Papillary thyroid carcinoma	Mõnikord (5–29%)
Thyroid adenoma	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)
Adrenocortical carcinoma	Harva (1–4%)
Enlarged thyroid gland in neck	Harva (1–4%)
Noncancerous tumor in pituitary gland	Harva (1–4%)
Thyroid gland inflammation	Harva (1–4%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Abnormality of the upper urinary tract	Mõnikord (5–29%)
Absent/small kidney	Mõnikord (5–29%)
Crossed fused renal ectopia	Mõnikord (5–29%)
Hydronephrosis	Mõnikord (5–29%)
Multiple kidney cysts	Mõnikord (5–29%)
Uterine leiomyoma	Mõnikord (5–29%)
Abnormality of the kidney	Harva (1–4%)
Cancer starting in small tubes in kidneys	Pole registreeritud
Transitional cell carcinoma of the bladder	Pole registreeritud
Uterine leiomyosarcoma	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Congenital hypertrophy of retinal pigment epithelium	Väga sageli (80–99%)
Abnormal retinal pigmentation	Sageli (30–79%)
Wide-set eyes	Sageli (30–79%)
Bulging eye	Mõnikord (5–29%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Drooping upper eyelid	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Optic disc hypoplasia	Mõnikord (5–29%)
Posterior polar cataract	Mõnikord (5–29%)

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Intellectual disability, mild	Sageli (30–79%)
Reading disability	Sageli (30–79%)
Astrocytoma	Mõnikord (5–29%)
Brain neoplasm	Harva (1–4%)
Ependymoma	Harva (1–4%)
Medulloblastoma	Harva (1–4%)

Abnormal tissue mass

Trait	Kui sageli seda täheldatakse
Fibroma	Väga sageli (80–99%)
Angiofibromas	Mõnikord (5–29%)
Soft tissue neoplasm	Harva (1–4%)
Carcinoma	Pole registreeritud

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Intestinal bleeding	Sageli (30–79%)
Iron deficiency anemia	Sageli (30–79%)
Black feces	Mõnikord (5–29%)
Gastrointestinal bleeding	Mõnikord (5–29%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Muscle ache	Sageli (30–79%)
Chest pain	Mõnikord (5–29%)
Joint pain	Mõnikord (5–29%)

Abnormality of the breast

Trait	Kui sageli seda täheldatakse
Breast cancer	Mõnikord (5–29%)
Fibroadenoma of the breast	Mõnikord (5–29%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Hearing impairment	Mõnikord (5–29%)
Prominent ear	Mõnikord (5–29%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Obstructive lung disease	Mõnikord (5–29%)
Softening of voice box tissue	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Infection in blood stream	Mõnikord (5–29%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Increased level of L-fucose in urine	Pole registreeritud

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test