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Traits

Traits linked to NOTCH2

notch receptor 2

The Human Phenotype Ontology links 129 traits to NOTCH2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

TraitHur ofta den förekommer
Extra bones within cranial suturesAlltid
Long philtrumAlltid
Narrow mouthAlltid
Thick eyebrowAlltid
Zygomatic flatteningAlltid
Abnormal facial shapeMycket ofta (80–99 %)
Abnormality of the skullMycket ofta (80–99 %)
Decreased bone formation of skullMycket ofta (80–99 %)
Downward slanting of the opening between the eyelidsMycket ofta (80–99 %)
Gum diseaseMycket ofta (80–99 %)
Little lower jawMycket ofta (80–99 %)
Abnormal dentitionOfta (30–79 %)
Abnormality of the lower jaw boneOfta (30–79 %)
Absent frontal sinusesOfta (30–79 %)
Basilar impressionOfta (30–79 %)
Big calvariaOfta (30–79 %)
Coarse facial featuresOfta (30–79 %)
Corners of eye widely separatedOfta (30–79 %)
Decreased volume of lipOfta (30–79 %)
Downturned corners of mouthOfta (30–79 %)
Flattening of the skull baseOfta (30–79 %)
Full cheeksOfta (30–79 %)
Long, narrow headOfta (30–79 %)
Nasal tip, upturnedOfta (30–79 %)
Open biteOfta (30–79 %)
Prominent back of the headOfta (30–79 %)
Short neckOfta (30–79 %)
Wide noseOfta (30–79 %)
Cheekbone underdevelopmentIbland (5–29 %)
Cleft palateIbland (5–29 %)
Low frontal hairlineIbland (5–29 %)
MonobrowIbland (5–29 %)
Wide nasal bridgeIbland (5–29 %)
Bad biteInte registrerat
Broad foreheadInte registrerat
Early tooth lossInte registrerat
Elongated sella turcicaInte registrerat
Eye foldsInte registrerat
High palateInte registrerat
Long eyelashesInte registrerat
Long noseInte registrerat
Pointed chinInte registrerat
Triangular faceInte registrerat

Abnormality of the musculoskeletal system

TraitHur ofta den förekommer
Abnormal skeletal developmentMycket ofta (80–99 %)
Breakdown of boneMycket ofta (80–99 %)
OsteopeniaMycket ofta (80–99 %)
OsteoporosisMycket ofta (80–99 %)
Biconcave vertebral bodiesOfta (30–79 %)
Bone painOfta (30–79 %)
Compression fracture of a vertebral bodyOfta (30–79 %)
Double-JointedOfta (30–79 %)
Recurrent fracturesOfta (30–79 %)
ScoliosisOfta (30–79 %)
Underdeveloped 5th lumbar vertebraeOfta (30–79 %)
HerniaIbland (5–29 %)
Hunched backIbland (5–29 %)
Pigeon chestIbland (5–29 %)
Cervical instabilityInte registrerat
KyphoscoliosisInte registrerat
Spontaneous fractureInte registrerat
Tall lumbar vertebral bodiesInte registrerat

Abnormality of limbs

TraitHur ofta den förekommer
Foot acroosteolysisMycket ofta (80–99 %)
Partial absence of toeMycket ofta (80–99 %)
Short fingers or toesMycket ofta (80–99 %)
Short outermost finger boneMycket ofta (80–99 %)
Short toeMycket ofta (80–99 %)
Bowed calf boneIbland (5–29 %)
Bowing of the long bonesIbland (5–29 %)
Coarse metaphyseal trabecularizationIbland (5–29 %)
Dislocated kneecapIbland (5–29 %)
Breakdown of small bones of fingersInte registrerat
Crowded wrist bonesInte registrerat
Dislocated radial headInte registrerat
Knock kneesInte registrerat

Abnormality of the cardiovascular system

TraitHur ofta den förekommer
Abnormal cardiovascular system morphologyIbland (5–29 %)
Hole in heart wall separating two lower heart chambersIbland (5–29 %)
Increased spleen sizeIbland (5–29 %)
Mitral stenosisIbland (5–29 %)
Narrowing of aortic valveIbland (5–29 %)
Patent ductus arteriosusIbland (5–29 %)
An opening in the wall separating the top two chambers of the heartInte registrerat
High blood pressureInte registrerat
Narrowing of peripheral lung arteryInte registrerat
Narrowing of pulmonic valveInte registrerat
Tetralogy of FallotInte registrerat

Abnormality of the integument

TraitHur ofta den förekommer
Abnormal fingernailsOfta (30–79 %)
Excessive hairiness over bodyOfta (30–79 %)
Coarse hairIbland (5–29 %)
Dry skinIbland (5–29 %)
Open skin soreIbland (5–29 %)
Thickened skinIbland (5–29 %)
Excessive hairinessInte registrerat
Short nailInte registrerat

Abnormality of the genitourinary system

TraitHur ofta den förekommer
HypospadiasIbland (5–29 %)
Multiple kidney cystsIbland (5–29 %)
Polycystic kidney dysplasiaIbland (5–29 %)
Cystic kidney diseaseInte registrerat
Renal failureInte registrerat
Small kidneysInte registrerat
Undescended testesInte registrerat

Abnormality of the digestive system

TraitHur ofta den förekommer
Enlarged liverIbland (5–29 %)
Inguinal herniaIbland (5–29 %)
Intestinal malrotationIbland (5–29 %)
Umbilical herniaIbland (5–29 %)
Cholestatic liver diseaseInte registrerat
Slowed or blocked flow of bile from liverInte registrerat

Abnormality of the eye

TraitHur ofta den förekommer
Wide-set eyesAlltid
Cat eyeIbland (5–29 %)
Close sightedIbland (5–29 %)
Clouding of the lens of the eyeIbland (5–29 %)
Posterior embryotoxonInte registrerat

Abnormality of the nervous system

TraitHur ofta den förekommer
Chiari malformationOfta (30–79 %)
Fluid-filled cyst in spinal cordIbland (5–29 %)
HeadacheIbland (5–29 %)
Peripheral neuropathyIbland (5–29 %)
Too much cerebrospinal fluid in the brainIbland (5–29 %)

Abnormality of the ear

TraitHur ofta den förekommer
Conductive deafnessAlltid
Low-set earsAlltid
Hearing impairmentOfta (30–79 %)
Large earlobeInte registrerat

Laboratory abnormality

TraitHur ofta den förekommer
Accumulation of acid in body due to kidney problemInte registrerat
Blood in urineInte registrerat
High urine protein levelsInte registrerat

Growth abnormality

TraitHur ofta den förekommer
Short statureMycket ofta (80–99 %)
Faltering weightIbland (5–29 %)

Abnormality of the endocrine system

TraitHur ofta den förekommer
Delayed pubertyIbland (5–29 %)

Abnormality of the immune system

TraitHur ofta den förekommer
Recurrent respiratory infectionsIbland (5–29 %)

Abnormality of the voice

TraitHur ofta den förekommer
Abnormality of the voiceIbland (5–29 %)

Constitutional symptom

TraitHur ofta den förekommer
Joint painOfta (30–79 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to NOTCH2 and how often each is seen. Find out more at hpo.jax.org.

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