Traits

Traits linked to NOTCH3

notch receptor 3

The Human Phenotype Ontology links 282 traits to NOTCH3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the musculoskeletal system

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

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Aneurysm	Alati
Fainting spell	Alati
Hole in heart wall separating two lower heart chambers	Alati
Livedo racemosa	Alati
Patent ductus arteriosus	Alati
Varicose veins	Alati
Lacunar stroke	Väga sageli (80–99%)
Bulge in wall of large artery that carries blood away from heart	Sageli (30–79%)
Disruption of blood oxygen supply to brain	Sageli (30–79%)
Mini stroke	Sageli (30–79%)
Stroke	Sageli (30–79%)
Aortic valve has two leaflets rather than three	Mõnikord (5–29%)
High blood pressure	Mõnikord (5–29%)
Ischemic stroke	Mõnikord (5–29%)
Livedo reticularis	Mõnikord (5–29%)
Narrowing of an artery	Mõnikord (5–29%)
Raynaud phenomenon	Mõnikord (5–29%)
Plaque build-up in arteries supplying blood to heart	Pole registreeritud
Prominent veins	Pole registreeritud
Vascular granular osmiophilic material deposition	Pole registreeritud

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Nausea and vomiting	Alati
Poor swallowing	Alati
Abnormality of the intestine	Sageli (30–79%)
Inguinal hernia	Sageli (30–79%)
Prolonged yellowing of skin in newborn	Sageli (30–79%)
Umbilical hernia	Sageli (30–79%)
Abnormal connection between trachea and esophagus	Mõnikord (5–29%)
Cancer of the pancreas	Mõnikord (5–29%)
Intestinal obstruction	Mõnikord (5–29%)
Poor suck	Mõnikord (5–29%)
Acute pancreatic inflammation	Pole registreeritud
Enlarged liver	Pole registreeritud
Pseudobulbar paralysis	Pole registreeritud

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Coarse hair	Alati
Firm lump under the skin	Väga sageli (80–99%)
Skin cancer	Väga sageli (80–99%)
Abnormality of the hair	Sageli (30–79%)
Keloids	Sageli (30–79%)
Irregular hyperpigmentation	Mõnikord (5–29%)
Open skin sore	Mõnikord (5–29%)
Patchy darkened skin	Mõnikord (5–29%)
Darkened and thickened skin	Pole registreeritud
Increased fat below the skin in trunk	Pole registreeritud
Yellow bumps of fatty deposits on skin	Pole registreeritud

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Dizziness	Alati
Low-set ears	Alati
Absent ear canal	Väga sageli (80–99%)
Conductive deafness	Väga sageli (80–99%)
Ears rotated toward back of head	Väga sageli (80–99%)
Abnormality of the middle ear ossicles	Sageli (30–79%)
Sensorineural hearing impairment	Mõnikord (5–29%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Abnormal levels of creatine kinase in blood	Alati
Fever	Alati
Diabetes mellitus	Mõnikord (5–29%)
High blood calcium levels	Mõnikord (5–29%)
High blood sugar	Pole registreeritud
Increased plasma triglycerides	Pole registreeritud
Insulin resistant diabetes	Pole registreeritud

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Loss of bladder control	Alati
Bilateral cryptorchidism	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Abnormality of the kidney	Mõnikord (5–29%)
Lack of bladder control due to nervous system injury	Mõnikord (5–29%)
Stress urinary incontinence	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Caesarean section	Alati
High levels of amniotic fluid	Alati
Less than 10 fetal movements in 12 hours	Alati
Low levels of amniotic fluid	Sageli (30–79%)
Placenta previa	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Faltering weight	Alati
Obesity	Alati
Short stature	Alati
Small for gestational age	Alati
Prenatal growth deficiency	Mõnikord (5–29%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Excessive sweating of hands	Alati
Increased muscle tone of arm or leg	Alati
Abnormality of the wide portion of a long bone	Väga sageli (80–99%)
Prominent fingertip pads	Mõnikord (5–29%)

Abnormal tissue mass

Trait	Kui sageli seda täheldatakse
Cancer of connective tissue	Väga sageli (80–99%)
Fibroma	Väga sageli (80–99%)
Myofibromatosis	Pole registreeritud

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Nocturnal hypoventilation	Alati
Lung cancer	Sageli (30–79%)
Softening of voice box tissue	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Bleeding in brain	Mõnikord (5–29%)
Bleeding within the skull	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Infection in blood stream	Alati
Meningitis	Alati

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Underactive thyroid	Alati

Abnormality of the voice

Trait	Kui sageli seda täheldatakse
Nasal speech	Alati

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Fatigue	Alati

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to NOTCH3 and how often each is seen. Find out more at hpo.jax.org.

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