Trăsături

Trăsături asociate cu CTNNB1

catenin beta 1

Human Phenotype Ontology asociază 249 trăsături cu CTNNB1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal shape of hypothalamus	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Underdevelopment of part of brain called corpus callosum	Întotdeauna
Intracranial cystic lesion	Foarte des (80–99%)
Motor delay	Foarte des (80–99%)
Poor speech	Foarte des (80–99%)
Anxiety	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Delayed ability to sit	Des (30–79%)
Delayed ability to walk	Des (30–79%)
Difficulty sleeping	Des (30–79%)
Excessive daytime sleepiness	Des (30–79%)
Headache	Des (30–79%)
Irritability	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
Panic attack	Des (30–79%)
Abnormal temper tantrums	Uneori (5–29%)
Aggressive behavior	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Delayed ability to crawl	Uneori (5–29%)
Delayed CNS myelination	Uneori (5–29%)
Difficulty finding words	Uneori (5–29%)
Echoing another person's speech	Uneori (5–29%)
Fluid-filled cyst in spinal cord	Uneori (5–29%)
Inability to speak	Uneori (5–29%)
Increased appetite	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Mild global developmental delay	Uneori (5–29%)
Pauses in breathing while sleeping	Uneori (5–29%)
Restlessness	Uneori (5–29%)
Rise in pressure inside skull	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Self-mutilation	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)
Spina bifida occulta	Uneori (5–29%)
Tethered cord	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Coma	Rar (1–4%)
Epilepsy	Rar (1–4%)
Medulloblastoma	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Broad nasal tip	Întotdeauna
Small head present at birth	Întotdeauna
Abnormal dentition	Foarte des (80–99%)
Abnormal facial shape	Foarte des (80–99%)
Abnormal oral frenulum morphology	Foarte des (80–99%)
Abnormally small head	Foarte des (80–99%)
Cone shaped tooth	Foarte des (80–99%)
Early eruption of teeth	Foarte des (80–99%)
Enlargement of facial bones	Foarte des (80–99%)
Failure of development of between one and six teeth	Foarte des (80–99%)
Increased thickness of skull cap	Foarte des (80–99%)
Only one upper front tooth	Foarte des (80–99%)
Bifid uvula	Des (30–79%)
Big calvaria	Des (30–79%)
Cleft of the face	Des (30–79%)
Cleft palate	Des (30–79%)
Delayed cranial suture closure	Des (30–79%)
Delayed eruption of teeth	Des (30–79%)
Flat back of skull	Des (30–79%)
Frontal bossing	Des (30–79%)
High, narrow palate	Des (30–79%)
Prominent forehead	Des (30–79%)
Submucous cleft hard palate	Des (30–79%)
Wide fontanelles	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Bell's palsy	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Flat face	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Low hanging columella	Uneori (5–29%)
Receding chin	Uneori (5–29%)
Smooth philtrum	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)
Underdeveloped tissue around nostril	Uneori (5–29%)
Abnormality of the bone of the forehead	Rar (1–4%)
Abnormality of the nasal bone	Rar (1–4%)
High palate	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Vitreoretinopathy	Întotdeauna
Abnormal optic disc morphology	Des (30–79%)
Abnormal retinal pigmentation	Des (30–79%)
Abnormal visual field test	Des (30–79%)
Abnormality of the eye	Des (30–79%)
Bitemporal hemianopia	Des (30–79%)
Decreased clarity of vision	Des (30–79%)
Falciform retinal fold	Des (30–79%)
Papilledema	Des (30–79%)
Progressive visual field defects	Des (30–79%)
Slow decrease in sharpness of vision	Des (30–79%)
Subretinal fluid	Des (30–79%)
Tractional retinal detachment	Des (30–79%)
Abnormally small eyeball	Uneori (5–29%)
Blindness	Uneori (5–29%)
Chorioretinal atrophy	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Epiretinal membrane	Uneori (5–29%)
Eye floaters	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Macular edema	Uneori (5–29%)
Marked vision impairment	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Rhegmatogenous retinal detachment	Uneori (5–29%)
Exudative vitreoretinopathy	Rar (1–4%)
Sudden decrease in vision	Rar (1–4%)
Involuntary, rapid, rhythmic eye movements	Neînregistrat
Retina degeneration	Neînregistrat
Retinal detachment	Neînregistrat
Retinal fold	Neînregistrat
Retinal hole	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Adrenocortical carcinoma	Întotdeauna
Enlarged pituitary gland	Foarte des (80–99%)
Hypopituitarism	Foarte des (80–99%)
Neoplasm of the anterior pituitary	Foarte des (80–99%)
Abnormal circulating dehydroepiandrosterone concentration	Des (30–79%)
Adrenocorticotropic hormone deficiency	Des (30–79%)
Central adrenal insufficiency	Des (30–79%)
Central diabetes insipidus	Des (30–79%)
Decreased activity of gonads	Des (30–79%)
Elevated plasma aldosterone	Des (30–79%)
Elevated serum 11-deoxycortisol	Des (30–79%)
Hypogonadotropic hypogonadism	Des (30–79%)
Increased circulating androgen concentration	Des (30–79%)
Increased circulating androstenedione concentration	Des (30–79%)
Increased circulating cortisol level	Des (30–79%)
Increased circulating prolactin concentration	Des (30–79%)
Increased serum estradiol	Des (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Des (30–79%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Des (30–79%)
Delayed puberty	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal deposits of calcium in the brain	Foarte des (80–99%)
Harder, denser, fracture-prone bones	Foarte des (80–99%)
High iliac wing	Foarte des (80–99%)
Increased bone mineral density	Foarte des (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Foarte des (80–99%)
Large iliac wing	Foarte des (80–99%)
Low muscle tone in trunk	Foarte des (80–99%)
Muscular abnormality	Foarte des (80–99%)
Low muscle tone	Des (30–79%)
Muscle weakness	Des (30–79%)
Scoliosis	Des (30–79%)
Asymmetric chest	Uneori (5–29%)
Breakdown of bone	Uneori (5–29%)
Ectopic calcification	Uneori (5–29%)
Increased susceptibility to fractures	Uneori (5–29%)
Limitation of joint mobility	Uneori (5–29%)
Low solidness and mass of the bones	Uneori (5–29%)
Progressive spasticity	Uneori (5–29%)
Prominent swayback	Uneori (5–29%)
Spastic diplegia	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abdominal pain	Foarte des (80–99%)
Abnormality of the abdominal wall	Foarte des (80–99%)
Enlarged liver	Foarte des (80–99%)
Gastrointestinal desmoid tumor	Foarte des (80–99%)
Hepatic fibrosis	Foarte des (80–99%)
Feeding difficulties	Des (30–79%)
Growths in inner lining of intestine	Des (30–79%)
Hepatic necrosis	Des (30–79%)
Malabsorption	Des (30–79%)
Nausea and vomiting	Des (30–79%)
Vomiting	Des (30–79%)
Intestinal obstruction	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)
Colon cancer	Neînregistrat
Hepatocellular carcinoma	Neînregistrat
Hereditary nonpolyposis colorectal carcinoma	Neînregistrat
Micronodular cirrhosis	Neînregistrat
Stomach tumor	Neînregistrat
Subacute progressive viral hepatitis	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Pilomatrixoma	Întotdeauna
Abnormal fingernails	Foarte des (80–99%)
Abnormal toenail development	Foarte des (80–99%)
Abnormality of the toenail	Foarte des (80–99%)
Firm lump under the skin	Foarte des (80–99%)
Poor nail formation	Foarte des (80–99%)
Small nail	Foarte des (80–99%)
Underdeveloped toenails	Foarte des (80–99%)
Excessive hair growth	Des (30–79%)
Excessive sweating	Des (30–79%)
Stretch marks	Des (30–79%)
Skin cancer	Uneori (5–29%)
Itching	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Avascular peripheral retina	Foarte des (80–99%)
High blood pressure	Des (30–79%)
Palpitations	Des (30–79%)
Retinal neovascularization	Des (30–79%)
Disruption of blood oxygen supply to brain	Uneori (5–29%)
Macular exudate	Uneori (5–29%)
Macular telangiectasia	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Narrowing of aortic valve	Uneori (5–29%)
Heart attack	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Mild short stature	Foarte des (80–99%)
Increased body weight	Des (30–79%)
Obesity	Des (30–79%)
Weight loss	Des (30–79%)
Growth delay	Uneori (5–29%)
Proportionate short stature	Uneori (5–29%)
Severe short stature	Uneori (5–29%)
Small for gestational age	Uneori (5–29%)
Growth delay as children	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of reproductive system physiology	Des (30–79%)
Abnormality of the upper urinary tract	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Cancer starting in small tubes in kidneys	Neînregistrat
Dysgerminoma	Neînregistrat
Ovarian papillary adenocarcinoma	Neînregistrat
Transitional cell carcinoma of the bladder	Neînregistrat
Uterine leiomyosarcoma	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated circulating alpha-fetoprotein concentration	Foarte des (80–99%)
Diabetes mellitus	Des (30–79%)
High urine cortisol level	Des (30–79%)
Laboratory abnormality	Des (30–79%)
Low blood potassium levels	Des (30–79%)
Noninsulin-dependent diabetes	Uneori (5–29%)
Pee issues	Uneori (5–29%)
Swelling caused by excess lymph fluid under skin	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of the wide portion of a long bone	Foarte des (80–99%)
Coarse metaphyseal trabecularization	Foarte des (80–99%)
Extra little finger	Foarte des (80–99%)
Curvature of little finger	Des (30–79%)
Overlapping fingers	Des (30–79%)
Small hand	Des (30–79%)
Broad finger	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormal antihelix morphology	Des (30–79%)
Conductive deafness	Des (30–79%)
Ears rotated toward back of head	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Dizziness	Rar (1–4%)

Constitutional symptom

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

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Blood clot in portal vein	Des (30–79%)
Gastrointestinal bleeding	Uneori (5–29%)
Vitreous hemorrhage	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Infection in blood stream	Uneori (5–29%)
Anti-myeloperoxidase antibody positivity	Rar (1–4%)
Recurrent infections	Rar (1–4%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Fibroma	Foarte des (80–99%)
Head and neck tumor	Foarte des (80–99%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Breast cancer	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Lung adenocarcinoma	Des (30–79%)

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 CTNNB1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu