Trăsături

Trăsături asociate cu APC

APC regulator of Wnt signaling pathway

Human Phenotype Ontology asociază 158 trăsături cu APC, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

APC

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Adenomatous colonic polyposis	Întotdeauna
Fundic gland polyposis	Întotdeauna
Abnormality of the abdominal wall	Foarte des (80–99%)
Colon cancer	Foarte des (80–99%)
Colorectal polyposis	Foarte des (80–99%)
Duodenal polyposis	Foarte des (80–99%)
Gastrointestinal desmoid tumor	Foarte des (80–99%)
Gastrointestinal tract tumor	Foarte des (80–99%)
Abdominal pain	Des (30–79%)
Constipation	Des (30–79%)
Diarrhea	Des (30–79%)
Gastric adenocarcinoma	Des (30–79%)
Growths in inner lining of intestine	Des (30–79%)
Large intestinal polyposis	Des (30–79%)
Malabsorption	Des (30–79%)
Multiple gastric polyps	Des (30–79%)
Rectal polyposis	Des (30–79%)
Stomach tumor	Des (30–79%)
Adenocarcinoma of the colon	Uneori (5–29%)
Duodenal adenocarcinoma	Uneori (5–29%)
Intestinal obstruction	Uneori (5–29%)
Adenocarcinoma of the small intestine	Rar (1–4%)
Bile duct cancer	Rar (1–4%)
Biliary tract obstruction	Rar (1–4%)
Cancer of the pancreas	Rar (1–4%)
Gastrointestinal carcinoma	Rar (1–4%)
Hepatoblastoma	Rar (1–4%)
Neoplasm of the gallbladder	Rar (1–4%)
Pancreatic adenocarcinoma	Rar (1–4%)
Pancreatic inflammation	Rar (1–4%)
Stomach cancer	Rar (1–4%)
Hepatocellular carcinoma	Neînregistrat
Hereditary nonpolyposis colorectal carcinoma	Neînregistrat
Micronodular cirrhosis	Neînregistrat
Small intestine carcinoid	Neînregistrat
Subacute progressive viral hepatitis	Neînregistrat

Abnormality of head or neck

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

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormal shape of long bones of hand	Foarte des (80–99%)
Finger syndactyly	Foarte des (80–99%)
Fusion of wrist bones	Foarte des (80–99%)
Oligodactyly	Foarte des (80–99%)
Fused forearm bones	Des (30–79%)
Fused toes	Des (30–79%)
Short thumb	Des (30–79%)
Underdeveloped inner large forearm bone	Des (30–79%)
Underdeveloped outer large forearm bone	Des (30–79%)
Elbow dislocation	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Missing toes	Uneori (5–29%)
Single transverse palmar crease	Uneori (5–29%)
Smaller or shorter than typical limbs	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Absent fingernail	Foarte des (80–99%)
Firm lump under the skin	Foarte des (80–99%)
Absent toenail	Des (30–79%)
Early balding	Des (30–79%)
Epidermoid cyst	Des (30–79%)
Abnormal fingerprints	Uneori (5–29%)
Papilloma	Uneori (5–29%)
Skin cancer	Uneori (5–29%)
Localized skin lesion	Rar (1–4%)
Pilomatrixoma	Rar (1–4%)
Keloids	Neînregistrat
Patchy darkened skin	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Fusion of joints	Foarte des (80–99%)
Muscular abnormality	Foarte des (80–99%)
Osteoma	Des (30–79%)
Abnormal vertebral body morphology	Uneori (5–29%)
Abnormality of the ribs	Uneori (5–29%)
Breakdown of bone	Uneori (5–29%)
Generalized decreased muscle tone	Uneori (5–29%)
Limitation of joint mobility	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Spastic walk	Uneori (5–29%)
Fatty lump	Rar (1–4%)
Multiple fatty lumps	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Thyroid nodule	Des (30–79%)
Abnormality of the thyroid gland	Uneori (5–29%)
Adrenocortical adenoma	Uneori (5–29%)
Neoplasm of the adrenal gland	Uneori (5–29%)
Papillary thyroid carcinoma	Uneori (5–29%)
Thyroid adenoma	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)
Adrenocortical carcinoma	Rar (1–4%)
Enlarged thyroid gland in neck	Rar (1–4%)
Noncancerous tumor in pituitary gland	Rar (1–4%)
Thyroid gland inflammation	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the upper urinary tract	Uneori (5–29%)
Absent/small kidney	Uneori (5–29%)
Crossed fused renal ectopia	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Multiple kidney cysts	Uneori (5–29%)
Uterine leiomyoma	Uneori (5–29%)
Abnormality of the kidney	Rar (1–4%)
Cancer starting in small tubes in kidneys	Neînregistrat
Transitional cell carcinoma of the bladder	Neînregistrat
Uterine leiomyosarcoma	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Congenital hypertrophy of retinal pigment epithelium	Foarte des (80–99%)
Abnormal retinal pigmentation	Des (30–79%)
Wide-set eyes	Des (30–79%)
Bulging eye	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Optic disc hypoplasia	Uneori (5–29%)
Posterior polar cataract	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability, mild	Des (30–79%)
Reading disability	Des (30–79%)
Astrocytoma	Uneori (5–29%)
Brain neoplasm	Rar (1–4%)
Ependymoma	Rar (1–4%)
Medulloblastoma	Rar (1–4%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Fibroma	Foarte des (80–99%)
Angiofibromas	Uneori (5–29%)
Soft tissue neoplasm	Rar (1–4%)
Carcinoma	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Intestinal bleeding	Des (30–79%)
Iron deficiency anemia	Des (30–79%)
Black feces	Uneori (5–29%)
Gastrointestinal bleeding	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Muscle ache	Des (30–79%)
Chest pain	Uneori (5–29%)
Joint pain	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Breast cancer	Uneori (5–29%)
Fibroadenoma of the breast	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Uneori (5–29%)
Prominent ear	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Obstructive lung disease	Uneori (5–29%)
Softening of voice box tissue	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Infection in blood stream	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Increased level of L-fucose in urine	Neînregistrat

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu APC și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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