Požymiai

Su CTNNB1 susiję požymiai

catenin beta 1

Žmogaus fenotipo ontologija sieja 249 požymių su CTNNB1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Adrenocortical carcinoma	Visada
Enlarged pituitary gland	Labai dažnai (80–99%)
Hypopituitarism	Labai dažnai (80–99%)
Neoplasm of the anterior pituitary	Labai dažnai (80–99%)
Abnormal circulating dehydroepiandrosterone concentration	Dažnai (30–79%)
Adrenocorticotropic hormone deficiency	Dažnai (30–79%)
Central adrenal insufficiency	Dažnai (30–79%)
Central diabetes insipidus	Dažnai (30–79%)
Decreased activity of gonads	Dažnai (30–79%)
Elevated plasma aldosterone	Dažnai (30–79%)
Elevated serum 11-deoxycortisol	Dažnai (30–79%)
Hypogonadotropic hypogonadism	Dažnai (30–79%)
Increased circulating androgen concentration	Dažnai (30–79%)
Increased circulating androstenedione concentration	Dažnai (30–79%)
Increased circulating cortisol level	Dažnai (30–79%)
Increased circulating prolactin concentration	Dažnai (30–79%)
Increased serum estradiol	Dažnai (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Dažnai (30–79%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Dažnai (30–79%)
Delayed puberty	Kartais (5–29%)

Abnormality of the musculoskeletal system

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

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abdominal pain	Labai dažnai (80–99%)
Abnormality of the abdominal wall	Labai dažnai (80–99%)
Enlarged liver	Labai dažnai (80–99%)
Gastrointestinal desmoid tumor	Labai dažnai (80–99%)
Hepatic fibrosis	Labai dažnai (80–99%)
Feeding difficulties	Dažnai (30–79%)
Growths in inner lining of intestine	Dažnai (30–79%)
Hepatic necrosis	Dažnai (30–79%)
Malabsorption	Dažnai (30–79%)
Nausea and vomiting	Dažnai (30–79%)
Vomiting	Dažnai (30–79%)
Intestinal obstruction	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)
Colon cancer	Neužfiksuota
Hepatocellular carcinoma	Neužfiksuota
Hereditary nonpolyposis colorectal carcinoma	Neužfiksuota
Micronodular cirrhosis	Neužfiksuota
Stomach tumor	Neužfiksuota
Subacute progressive viral hepatitis	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Pilomatrixoma	Visada
Abnormal fingernails	Labai dažnai (80–99%)
Abnormal toenail development	Labai dažnai (80–99%)
Abnormality of the toenail	Labai dažnai (80–99%)
Firm lump under the skin	Labai dažnai (80–99%)
Poor nail formation	Labai dažnai (80–99%)
Small nail	Labai dažnai (80–99%)
Underdeveloped toenails	Labai dažnai (80–99%)
Excessive hair growth	Dažnai (30–79%)
Excessive sweating	Dažnai (30–79%)
Stretch marks	Dažnai (30–79%)
Skin cancer	Kartais (5–29%)
Itching	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Avascular peripheral retina	Labai dažnai (80–99%)
High blood pressure	Dažnai (30–79%)
Palpitations	Dažnai (30–79%)
Retinal neovascularization	Dažnai (30–79%)
Disruption of blood oxygen supply to brain	Kartais (5–29%)
Macular exudate	Kartais (5–29%)
Macular telangiectasia	Kartais (5–29%)
Narrowing of aorta	Kartais (5–29%)
Narrowing of aortic valve	Kartais (5–29%)
Heart attack	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Mild short stature	Labai dažnai (80–99%)
Increased body weight	Dažnai (30–79%)
Obesity	Dažnai (30–79%)
Weight loss	Dažnai (30–79%)
Growth delay	Kartais (5–29%)
Proportionate short stature	Kartais (5–29%)
Severe short stature	Kartais (5–29%)
Small for gestational age	Kartais (5–29%)
Growth delay as children	Retai (1–4 %)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of reproductive system physiology	Dažnai (30–79%)
Abnormality of the upper urinary tract	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Cancer starting in small tubes in kidneys	Neužfiksuota
Dysgerminoma	Neužfiksuota
Ovarian papillary adenocarcinoma	Neužfiksuota
Transitional cell carcinoma of the bladder	Neužfiksuota
Uterine leiomyosarcoma	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Elevated circulating alpha-fetoprotein concentration	Labai dažnai (80–99%)
Diabetes mellitus	Dažnai (30–79%)
High urine cortisol level	Dažnai (30–79%)
Laboratory abnormality	Dažnai (30–79%)
Low blood potassium levels	Dažnai (30–79%)
Noninsulin-dependent diabetes	Kartais (5–29%)
Pee issues	Kartais (5–29%)
Swelling caused by excess lymph fluid under skin	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Abnormality of the wide portion of a long bone	Labai dažnai (80–99%)
Coarse metaphyseal trabecularization	Labai dažnai (80–99%)
Extra little finger	Labai dažnai (80–99%)
Curvature of little finger	Dažnai (30–79%)
Overlapping fingers	Dažnai (30–79%)
Small hand	Dažnai (30–79%)
Broad finger	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Abnormal antihelix morphology	Dažnai (30–79%)
Conductive deafness	Dažnai (30–79%)
Ears rotated toward back of head	Kartais (5–29%)
Hearing impairment	Kartais (5–29%)
Low-set ears	Kartais (5–29%)
Dizziness	Retai (1–4 %)

Constitutional symptom

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

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Blood clot in portal vein	Dažnai (30–79%)
Gastrointestinal bleeding	Kartais (5–29%)
Vitreous hemorrhage	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Infection in blood stream	Kartais (5–29%)
Anti-myeloperoxidase antibody positivity	Retai (1–4 %)
Recurrent infections	Retai (1–4 %)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Fibroma	Labai dažnai (80–99%)
Head and neck tumor	Labai dažnai (80–99%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Breast cancer	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Lung adenocarcinoma	Dažnai (30–79%)

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

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su CTNNB1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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