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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the musculoskeletal system

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

Abnormality of the cardiovascular system

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

Abnormality of the digestive system

Trait	나타나는 빈도
Nausea and vomiting	항상
Poor swallowing	항상
Abnormality of the intestine	자주 (30–79%)
Inguinal hernia	자주 (30–79%)
Prolonged yellowing of skin in newborn	자주 (30–79%)
Umbilical hernia	자주 (30–79%)
Abnormal connection between trachea and esophagus	가끔 (5–29%)
Cancer of the pancreas	가끔 (5–29%)
Intestinal obstruction	가끔 (5–29%)
Poor suck	가끔 (5–29%)
Acute pancreatic inflammation	기록되지 않음
Enlarged liver	기록되지 않음
Pseudobulbar paralysis	기록되지 않음

Abnormality of the integument

Trait	나타나는 빈도
Coarse hair	항상
Firm lump under the skin	매우 자주 (80–99%)
Skin cancer	매우 자주 (80–99%)
Abnormality of the hair	자주 (30–79%)
Keloids	자주 (30–79%)
Irregular hyperpigmentation	가끔 (5–29%)
Open skin sore	가끔 (5–29%)
Patchy darkened skin	가끔 (5–29%)
Darkened and thickened skin	기록되지 않음
Increased fat below the skin in trunk	기록되지 않음
Yellow bumps of fatty deposits on skin	기록되지 않음

Abnormality of the ear

Trait	나타나는 빈도
Dizziness	항상
Low-set ears	항상
Absent ear canal	매우 자주 (80–99%)
Conductive deafness	매우 자주 (80–99%)
Ears rotated toward back of head	매우 자주 (80–99%)
Abnormality of the middle ear ossicles	자주 (30–79%)
Sensorineural hearing impairment	가끔 (5–29%)

Laboratory abnormality

Trait	나타나는 빈도
Abnormal levels of creatine kinase in blood	항상
Fever	항상
Diabetes mellitus	가끔 (5–29%)
High blood calcium levels	가끔 (5–29%)
High blood sugar	기록되지 않음
Increased plasma triglycerides	기록되지 않음
Insulin resistant diabetes	기록되지 않음

Abnormality of the genitourinary system

Trait	나타나는 빈도
Loss of bladder control	항상
Bilateral cryptorchidism	자주 (30–79%)
Undescended testes	자주 (30–79%)
Abnormality of the kidney	가끔 (5–29%)
Lack of bladder control due to nervous system injury	가끔 (5–29%)
Stress urinary incontinence	가끔 (5–29%)

Abnormality of prenatal development or birth

Trait	나타나는 빈도
Caesarean section	항상
High levels of amniotic fluid	항상
Less than 10 fetal movements in 12 hours	항상
Low levels of amniotic fluid	자주 (30–79%)
Placenta previa	가끔 (5–29%)

Growth abnormality

Trait	나타나는 빈도
Faltering weight	항상
Obesity	항상
Short stature	항상
Small for gestational age	항상
Prenatal growth deficiency	가끔 (5–29%)

Abnormality of limbs

Trait	나타나는 빈도
Excessive sweating of hands	항상
Increased muscle tone of arm or leg	항상
Abnormality of the wide portion of a long bone	매우 자주 (80–99%)
Prominent fingertip pads	가끔 (5–29%)

Abnormal tissue mass

Trait	나타나는 빈도
Cancer of connective tissue	매우 자주 (80–99%)
Fibroma	매우 자주 (80–99%)
Myofibromatosis	기록되지 않음

Abnormality of the respiratory system

Trait	나타나는 빈도
Nocturnal hypoventilation	항상
Lung cancer	자주 (30–79%)
Softening of voice box tissue	가끔 (5–29%)

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Bleeding in brain	가끔 (5–29%)
Bleeding within the skull	가끔 (5–29%)

Abnormality of the immune system

Trait	나타나는 빈도
Infection in blood stream	항상
Meningitis	항상

Abnormality of the endocrine system

Trait	나타나는 빈도
Underactive thyroid	항상

Abnormality of the voice

Trait	나타나는 빈도
Nasal speech	항상

Constitutional symptom

Trait	나타나는 빈도
Fatigue	항상

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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