Tunnused

Geeniga CTNNB1 seotud tunnused

catenin beta 1

Inimese fenotüübi ontoloogia seostab geeniga CTNNB1 249 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Vitreoretinopathy	Alati
Abnormal optic disc morphology	Sageli (30–79%)
Abnormal retinal pigmentation	Sageli (30–79%)
Abnormal visual field test	Sageli (30–79%)
Abnormality of the eye	Sageli (30–79%)
Bitemporal hemianopia	Sageli (30–79%)
Decreased clarity of vision	Sageli (30–79%)
Falciform retinal fold	Sageli (30–79%)
Papilledema	Sageli (30–79%)
Progressive visual field defects	Sageli (30–79%)
Slow decrease in sharpness of vision	Sageli (30–79%)
Subretinal fluid	Sageli (30–79%)
Tractional retinal detachment	Sageli (30–79%)
Abnormally small eyeball	Mõnikord (5–29%)
Blindness	Mõnikord (5–29%)
Chorioretinal atrophy	Mõnikord (5–29%)
Close sighted	Mõnikord (5–29%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Epiretinal membrane	Mõnikord (5–29%)
Eye floaters	Mõnikord (5–29%)
Farsightedness	Mõnikord (5–29%)
Macular edema	Mõnikord (5–29%)
Marked vision impairment	Mõnikord (5–29%)
Optic atrophy	Mõnikord (5–29%)
Rhegmatogenous retinal detachment	Mõnikord (5–29%)
Exudative vitreoretinopathy	Harva (1–4%)
Sudden decrease in vision	Harva (1–4%)
Involuntary, rapid, rhythmic eye movements	Pole registreeritud
Retina degeneration	Pole registreeritud
Retinal detachment	Pole registreeritud
Retinal fold	Pole registreeritud
Retinal hole	Pole registreeritud

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Adrenocortical carcinoma	Alati
Enlarged pituitary gland	Väga sageli (80–99%)
Hypopituitarism	Väga sageli (80–99%)
Neoplasm of the anterior pituitary	Väga sageli (80–99%)
Abnormal circulating dehydroepiandrosterone concentration	Sageli (30–79%)
Adrenocorticotropic hormone deficiency	Sageli (30–79%)
Central adrenal insufficiency	Sageli (30–79%)
Central diabetes insipidus	Sageli (30–79%)
Decreased activity of gonads	Sageli (30–79%)
Elevated plasma aldosterone	Sageli (30–79%)
Elevated serum 11-deoxycortisol	Sageli (30–79%)
Hypogonadotropic hypogonadism	Sageli (30–79%)
Increased circulating androgen concentration	Sageli (30–79%)
Increased circulating androstenedione concentration	Sageli (30–79%)
Increased circulating cortisol level	Sageli (30–79%)
Increased circulating prolactin concentration	Sageli (30–79%)
Increased serum estradiol	Sageli (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Sageli (30–79%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Sageli (30–79%)
Delayed puberty	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

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

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abdominal pain	Väga sageli (80–99%)
Abnormality of the abdominal wall	Väga sageli (80–99%)
Enlarged liver	Väga sageli (80–99%)
Gastrointestinal desmoid tumor	Väga sageli (80–99%)
Hepatic fibrosis	Väga sageli (80–99%)
Feeding difficulties	Sageli (30–79%)
Growths in inner lining of intestine	Sageli (30–79%)
Hepatic necrosis	Sageli (30–79%)
Malabsorption	Sageli (30–79%)
Nausea and vomiting	Sageli (30–79%)
Vomiting	Sageli (30–79%)
Intestinal obstruction	Mõnikord (5–29%)
Poor swallowing	Mõnikord (5–29%)
Colon cancer	Pole registreeritud
Hepatocellular carcinoma	Pole registreeritud
Hereditary nonpolyposis colorectal carcinoma	Pole registreeritud
Micronodular cirrhosis	Pole registreeritud
Stomach tumor	Pole registreeritud
Subacute progressive viral hepatitis	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Pilomatrixoma	Alati
Abnormal fingernails	Väga sageli (80–99%)
Abnormal toenail development	Väga sageli (80–99%)
Abnormality of the toenail	Väga sageli (80–99%)
Firm lump under the skin	Väga sageli (80–99%)
Poor nail formation	Väga sageli (80–99%)
Small nail	Väga sageli (80–99%)
Underdeveloped toenails	Väga sageli (80–99%)
Excessive hair growth	Sageli (30–79%)
Excessive sweating	Sageli (30–79%)
Stretch marks	Sageli (30–79%)
Skin cancer	Mõnikord (5–29%)
Itching	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Avascular peripheral retina	Väga sageli (80–99%)
High blood pressure	Sageli (30–79%)
Palpitations	Sageli (30–79%)
Retinal neovascularization	Sageli (30–79%)
Disruption of blood oxygen supply to brain	Mõnikord (5–29%)
Macular exudate	Mõnikord (5–29%)
Macular telangiectasia	Mõnikord (5–29%)
Narrowing of aorta	Mõnikord (5–29%)
Narrowing of aortic valve	Mõnikord (5–29%)
Heart attack	Harva (1–4%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Mild short stature	Väga sageli (80–99%)
Increased body weight	Sageli (30–79%)
Obesity	Sageli (30–79%)
Weight loss	Sageli (30–79%)
Growth delay	Mõnikord (5–29%)
Proportionate short stature	Mõnikord (5–29%)
Severe short stature	Mõnikord (5–29%)
Small for gestational age	Mõnikord (5–29%)
Growth delay as children	Harva (1–4%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormality of reproductive system physiology	Sageli (30–79%)
Abnormality of the upper urinary tract	Mõnikord (5–29%)
Hydronephrosis	Mõnikord (5–29%)
Cancer starting in small tubes in kidneys	Pole registreeritud
Dysgerminoma	Pole registreeritud
Ovarian papillary adenocarcinoma	Pole registreeritud
Transitional cell carcinoma of the bladder	Pole registreeritud
Uterine leiomyosarcoma	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated circulating alpha-fetoprotein concentration	Väga sageli (80–99%)
Diabetes mellitus	Sageli (30–79%)
High urine cortisol level	Sageli (30–79%)
Laboratory abnormality	Sageli (30–79%)
Low blood potassium levels	Sageli (30–79%)
Noninsulin-dependent diabetes	Mõnikord (5–29%)
Pee issues	Mõnikord (5–29%)
Swelling caused by excess lymph fluid under skin	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Abnormality of the wide portion of a long bone	Väga sageli (80–99%)
Coarse metaphyseal trabecularization	Väga sageli (80–99%)
Extra little finger	Väga sageli (80–99%)
Curvature of little finger	Sageli (30–79%)
Overlapping fingers	Sageli (30–79%)
Small hand	Sageli (30–79%)
Broad finger	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Abnormal antihelix morphology	Sageli (30–79%)
Conductive deafness	Sageli (30–79%)
Ears rotated toward back of head	Mõnikord (5–29%)
Hearing impairment	Mõnikord (5–29%)
Low-set ears	Mõnikord (5–29%)
Dizziness	Harva (1–4%)

Constitutional symptom

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

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Blood clot in portal vein	Sageli (30–79%)
Gastrointestinal bleeding	Mõnikord (5–29%)
Vitreous hemorrhage	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Infection in blood stream	Mõnikord (5–29%)
Anti-myeloperoxidase antibody positivity	Harva (1–4%)
Recurrent infections	Harva (1–4%)

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Fibroma	Väga sageli (80–99%)
Head and neck tumor	Väga sageli (80–99%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Breast cancer	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Lung adenocarcinoma	Sageli (30–79%)

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

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga CTNNB1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

Üks test. Vastused kogu eluks.

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

Telli oma Genome Test