Požymiai

Su NOTCH3 susiję požymiai

notch receptor 3

Žmogaus fenotipo ontologija sieja 282 požymių su NOTCH3, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal dentate nucleus morphology	Visada
Abnormal diffusion weighted cerebral MRI morphology	Visada
Abnormal pyramidal sign	Visada
Abulia	Visada
Attention deficit	Visada
Babinski sign	Visada
Balance impairment	Visada
Boiling mad	Visada
Brain degeneration	Visada
Brisk reflexes	Visada
Cavitation of the basal ganglia	Visada
Cerebellar vermis hypoplasia	Visada
Cognitive impairment	Visada
Deep cerebral white matter hyperintensities	Visada
Degeneration of cerebellum	Visada
Degeneration of cerebrum	Visada
Delayed speech and language development	Visada
Difficulty finding words	Visada
Focal T2 hyperintense basal ganglia lesion	Visada
Frequent temper tantrums	Visada
Gliosis	Visada
Global developmental delay	Visada
Hallucinations of sound	Visada
Inability to coordinate movements when walking	Visada
Inappropriate laughter	Visada
Intellectual disability, mild	Visada
Intellectual disability, severe	Visada
Irritability	Visada
Lateral ventricle dilatation	Visada
Leukodystrophy	Visada
Leukoencephalopathy	Visada
Memory impairment	Visada
Migraine	Visada
Mild global developmental delay	Visada
Overactive lower leg reflex	Visada
Paralysis on one side of body	Visada
Periventricular white matter hyperintensities	Visada
Perseverative thought	Visada
Personality changes	Visada
Pseudobulbar signs	Visada
Psychosis	Visada
Reduced cerebral white matter volume	Visada
Repeated seizures without recovery between them	Visada
Simple febrile seizure	Visada
Subependymal nodules	Visada
Thin corpus callosum	Visada
Upper limb hyperreflexia	Visada
Visual hallucinations	Visada
Abnormal cerebral white matter morphology	Labai dažnai (80–99%)
Dural ectasia	Labai dažnai (80–99%)
Increased reflexes	Labai dažnai (80–99%)
Meningocele	Labai dažnai (80–99%)
Multifocal hyperintensity of cerebral white matter on MRI	Labai dažnai (80–99%)
Ataxia	Dažnai (30–79%)
Can't control feelings	Dažnai (30–79%)
Clonus	Dažnai (30–79%)
Delayed ability to walk	Dažnai (30–79%)
Dementia	Dažnai (30–79%)
Difficulty articulating speech	Dažnai (30–79%)
EEG abnormality	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Fluid-filled cyst in spinal cord	Dažnai (30–79%)
Grand mal seizures	Dažnai (30–79%)
Headache	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Lack of feeling, emotion, interest	Dažnai (30–79%)
Migraine with aura	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Obstructive sleep apnea	Dažnai (30–79%)
Weakness of one side of body	Dažnai (30–79%)
Abnormal gait	Kartais (5–29%)
Absent speech development	Kartais (5–29%)
Anxiety	Kartais (5–29%)
Benign neoplasm of the central nervous system	Kartais (5–29%)
Chiari malformation	Kartais (5–29%)
Chiari type I malformation	Kartais (5–29%)
Confusion	Kartais (5–29%)
Depression	Kartais (5–29%)
Encephalopathy	Kartais (5–29%)
Impaired visuospatial constructive cognition	Kartais (5–29%)
Language impairment	Kartais (5–29%)
Loss of consciousness	Kartais (5–29%)
Mental slowness	Kartais (5–29%)
Paralysis or weakness of one side of body	Kartais (5–29%)
Parkinsonism	Kartais (5–29%)
Peripheral neuropathy	Kartais (5–29%)
Progressive degeneration of movement	Kartais (5–29%)
Recurrent subcortical infarcts	Kartais (5–29%)
Tethered cord	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Behavioral abnormality	Neužfiksuota
Fluid-filled sac located in membrane surrounding brain or spinal cord	Neužfiksuota
Subcortical dementia	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Drooling	Visada
Little lower jaw	Visada
Small head present at birth	Visada
Zygomatic flattening	Visada
Downward slanting of the opening between the eyelids	Labai dažnai (80–99%)
Extra bones within cranial sutures	Labai dažnai (80–99%)
High palate	Labai dažnai (80–99%)
High, narrow palate	Labai dažnai (80–99%)
Long, narrow head	Labai dažnai (80–99%)
Narrow face	Labai dažnai (80–99%)
Abnormality of the face	Dažnai (30–79%)
Abnormality of the skull	Dažnai (30–79%)
Abnormally small head	Dažnai (30–79%)
Corners of eye widely separated	Dažnai (30–79%)
Dental crowding	Dažnai (30–79%)
Enlargement of craniofacial bones	Dažnai (30–79%)
Gingival fibromatosis	Dažnai (30–79%)
Increased thickness of skull cap	Dažnai (30–79%)
Low hairline at back of neck	Dažnai (30–79%)
Monobrow	Dažnai (30–79%)
Prominent metopic ridge	Dažnai (30–79%)
Short neck	Dažnai (30–79%)
Smooth philtrum	Dažnai (30–79%)
Big calvaria	Kartais (5–29%)
Broad opening between the eyelids	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Coarse facial features	Kartais (5–29%)
Cystic hygroma	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Downturned corners of mouth	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Facial diplegia	Kartais (5–29%)
Long eyelashes	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Narrow eyelid opening	Kartais (5–29%)
Narrow forehead	Kartais (5–29%)
Round face	Kartais (5–29%)
Short opening between the eyelids	Kartais (5–29%)
Thick eyebrow	Kartais (5–29%)
Dense bone of skull base	Neužfiksuota
Flattening of the skull base	Neužfiksuota
Increased amount of facial fat	Neužfiksuota
Increased fat around the neck	Neužfiksuota
Short nasal bridge	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Damaged optic nerve	Visada
Drooping upper eyelid	Visada
Esodeviation	Visada
Horizontal nystagmus	Visada
Involuntary, rapid, rhythmic eye movements	Visada
Moderate hypermetropia	Visada
Noninflammatory retina disease	Visada
Oculomotor apraxia	Visada
Wide-set eyes	Dažnai (30–79%)
Abnormality of the eye	Kartais (5–29%)
Anisometropia	Kartais (5–29%)
Anterior synechiae of the anterior chamber	Kartais (5–29%)
Astigmatism	Kartais (5–29%)
Bulging eye	Kartais (5–29%)
Cat eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Drooping of both upper eyelids	Kartais (5–29%)
Dropping of one upper eyelid	Kartais (5–29%)
Epiretinal membrane	Kartais (5–29%)
Farsightedness	Kartais (5–29%)
Posterior vitreous detachment	Kartais (5–29%)
Retinal cotton wool spot	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Visual loss	Kartais (5–29%)
Abnormal electroretinogram	Neužfiksuota
Abnormality of visual evoked potentials	Neužfiksuota
Nonarteritic anterior ischemic optic neuropathy	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Appendicular spasticity	Visada
Double-Jointed	Visada
Low muscle tone	Visada
Low muscle tone in trunk	Visada
Lower limb spasticity	Visada
Spastic tetraparesis	Visada
Thoracic scoliosis	Visada
Bone cyst	Labai dažnai (80–99%)
Muscular abnormality	Labai dažnai (80–99%)
Scoliosis	Labai dažnai (80–99%)
Abnormal vertebral body morphology	Dažnai (30–79%)
Abnormality of the chest	Dažnai (30–79%)
Calcium deposits in joints	Dažnai (30–79%)
Decreased muscle mass	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Vertebral fusion	Dažnai (30–79%)
Abnormal sacrum morphology	Kartais (5–29%)
Breakdown of bone	Kartais (5–29%)
Congenital diaphragmatic hernia	Kartais (5–29%)
Hunched back	Kartais (5–29%)
Limitation of joint mobility	Kartais (5–29%)
Prominent swayback	Kartais (5–29%)
Biconcave vertebral bodies	Neužfiksuota
Inability to make and keep healthy fat tissue	Neužfiksuota
Loss of fat tissue below the skin in gluts	Neužfiksuota
Loss of fat tissue below the skin in limbs	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Aneurysm	Visada
Fainting spell	Visada
Hole in heart wall separating two lower heart chambers	Visada
Livedo racemosa	Visada
Patent ductus arteriosus	Visada
Varicose veins	Visada
Lacunar stroke	Labai dažnai (80–99%)
Bulge in wall of large artery that carries blood away from heart	Dažnai (30–79%)
Disruption of blood oxygen supply to brain	Dažnai (30–79%)
Mini stroke	Dažnai (30–79%)
Stroke	Dažnai (30–79%)
Aortic valve has two leaflets rather than three	Kartais (5–29%)
High blood pressure	Kartais (5–29%)
Ischemic stroke	Kartais (5–29%)
Livedo reticularis	Kartais (5–29%)
Narrowing of an artery	Kartais (5–29%)
Raynaud phenomenon	Kartais (5–29%)
Plaque build-up in arteries supplying blood to heart	Neužfiksuota
Prominent veins	Neužfiksuota
Vascular granular osmiophilic material deposition	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Nausea and vomiting	Visada
Poor swallowing	Visada
Abnormality of the intestine	Dažnai (30–79%)
Inguinal hernia	Dažnai (30–79%)
Prolonged yellowing of skin in newborn	Dažnai (30–79%)
Umbilical hernia	Dažnai (30–79%)
Abnormal connection between trachea and esophagus	Kartais (5–29%)
Cancer of the pancreas	Kartais (5–29%)
Intestinal obstruction	Kartais (5–29%)
Poor suck	Kartais (5–29%)
Acute pancreatic inflammation	Neužfiksuota
Enlarged liver	Neužfiksuota
Pseudobulbar paralysis	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Coarse hair	Visada
Firm lump under the skin	Labai dažnai (80–99%)
Skin cancer	Labai dažnai (80–99%)
Abnormality of the hair	Dažnai (30–79%)
Keloids	Dažnai (30–79%)
Irregular hyperpigmentation	Kartais (5–29%)
Open skin sore	Kartais (5–29%)
Patchy darkened skin	Kartais (5–29%)
Darkened and thickened skin	Neužfiksuota
Increased fat below the skin in trunk	Neužfiksuota
Yellow bumps of fatty deposits on skin	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Dizziness	Visada
Low-set ears	Visada
Absent ear canal	Labai dažnai (80–99%)
Conductive deafness	Labai dažnai (80–99%)
Ears rotated toward back of head	Labai dažnai (80–99%)
Abnormality of the middle ear ossicles	Dažnai (30–79%)
Sensorineural hearing impairment	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Abnormal levels of creatine kinase in blood	Visada
Fever	Visada
Diabetes mellitus	Kartais (5–29%)
High blood calcium levels	Kartais (5–29%)
High blood sugar	Neužfiksuota
Increased plasma triglycerides	Neužfiksuota
Insulin resistant diabetes	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Loss of bladder control	Visada
Bilateral cryptorchidism	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Abnormality of the kidney	Kartais (5–29%)
Lack of bladder control due to nervous system injury	Kartais (5–29%)
Stress urinary incontinence	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Caesarean section	Visada
High levels of amniotic fluid	Visada
Less than 10 fetal movements in 12 hours	Visada
Low levels of amniotic fluid	Dažnai (30–79%)
Placenta previa	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Visada
Obesity	Visada
Short stature	Visada
Small for gestational age	Visada
Prenatal growth deficiency	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Excessive sweating of hands	Visada
Increased muscle tone of arm or leg	Visada
Abnormality of the wide portion of a long bone	Labai dažnai (80–99%)
Prominent fingertip pads	Kartais (5–29%)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Cancer of connective tissue	Labai dažnai (80–99%)
Fibroma	Labai dažnai (80–99%)
Myofibromatosis	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Nocturnal hypoventilation	Visada
Lung cancer	Dažnai (30–79%)
Softening of voice box tissue	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bleeding in brain	Kartais (5–29%)
Bleeding within the skull	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Infection in blood stream	Visada
Meningitis	Visada

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Underactive thyroid	Visada

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Nasal speech	Visada

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	Visada

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 NOTCH3 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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