Traits

Traits linked to MAP2K2

mitogen-activated protein kinase kinase 2

The Human Phenotype Ontology links 169 traits to MAP2K2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Broad neck	Visada
Bulbous nose	Visada
Coarse facial features	Visada
Eye folds	Visada
Full lower lip	Visada
Long face	Visada
Long philtrum	Visada
Narrow face	Visada
Prominent brow	Visada
Short nose	Visada
Sparse eyebrow	Visada
Abnormal eyelashes	Labai dažnai (80–99%)
Abnormality of the face	Labai dažnai (80–99%)
Absent eyebrow	Labai dažnai (80–99%)
Broad opening between the eyelids	Labai dažnai (80–99%)
Depressed nasal bridge	Labai dažnai (80–99%)
Downward slanting of the opening between the eyelids	Labai dažnai (80–99%)
Flattened bony protrusion above eyes	Labai dažnai (80–99%)
Full cheeks	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Sparse or absent eyebrows	Labai dažnai (80–99%)
Webbed neck	Labai dažnai (80–99%)
Absence of scalp hair	Dažnai (30–79%)
Big calvaria	Dažnai (30–79%)
Cheekbone underdevelopment	Dažnai (30–79%)
Decreased width of the skull	Dažnai (30–79%)
Deep philtrum	Dažnai (30–79%)
Frontal bossing	Dažnai (30–79%)
Full lips	Dažnai (30–79%)
High forehead	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Low hairline at back of neck	Dažnai (30–79%)
Narrow forehead	Dažnai (30–79%)
Palpebral thickening	Dažnai (30–79%)
Prominent forehead	Dažnai (30–79%)
Short neck	Dažnai (30–79%)
Sparse eyelashes	Dažnai (30–79%)
Sparse or absent eyelashes	Dažnai (30–79%)
Long, narrow head	Kartais (5–29%)
Submucous cleft hard palate	Kartais (5–29%)
Abnormal dentition	Neužfiksuota
Absent eyelashes	Neužfiksuota
Bad bite	Neužfiksuota
Corners of eye widely separated	Neužfiksuota
Little lower jaw	Neužfiksuota
Open bite	Neužfiksuota
Open mouth	Neužfiksuota
Relatively large head	Neužfiksuota

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Curly hair	Visada
Excessive sweating	Visada
Few cafe-au-lait spots	Visada
Liver spots	Visada
Sparse hair	Visada
Brittle hair	Labai dažnai (80–99%)
Dry skin	Labai dažnai (80–99%)
Excessive wrinkled skin	Labai dažnai (80–99%)
Fine hair	Labai dažnai (80–99%)
Multiple birthmarks	Labai dažnai (80–99%)
Birthmark	Dažnai (30–79%)
Chicken skin	Dažnai (30–79%)
Generalized hyperpigmentation	Dažnai (30–79%)
Hyperelastic skin	Dažnai (30–79%)
Hyperkeratosis	Dažnai (30–79%)
Ichthyosis	Dažnai (30–79%)
Patchy darkened skin	Dažnai (30–79%)
Poor fingernail formation	Dažnai (30–79%)
Slow-growing hair	Dažnai (30–79%)
Loose redundant skin	Kartais (5–29%)
Numerous moles	Kartais (5–29%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Decrease in size of the outer layer of the brain due to loss of brain cells	Visada
Degeneration of cerebrum	Visada
Intellectual disability, severe	Visada
Severe global developmental delay	Visada
Small cerebellum	Visada
Thin corpus callosum	Visada
Abnormal speech pattern	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Specific learning disability	Labai dažnai (80–99%)
Autism	Dažnai (30–79%)
EEG abnormality	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Difficulty articulating speech	Kartais (5–29%)
Peripheral axonal neuropathy	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Neužfiksuota
Tongue thrusting	Neužfiksuota
Underdeveloped frontal lobe	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Blue eyes	Visada
Bulging eye	Visada
Close sighted	Visada
Clouding of the lens of the eye	Visada
Cross-eyed	Visada
Drooping upper eyelid	Visada
Farsightedness	Visada
Involuntary, rapid, rhythmic eye movements	Visada
Optic nerve hypoplasia	Visada
Abnormality of the eye	Labai dažnai (80–99%)
Abnormality of vision	Labai dažnai (80–99%)
Wide-set eyes	Labai dažnai (80–99%)
Cerebral visual impairment	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Oculomotor apraxia	Neužfiksuota
Optic nerve dysplasia	Neužfiksuota
Progressive loss of vision	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Funnel chest	Visada
Low muscle tone	Visada
Scoliosis	Visada
Wide rib cage	Visada
Abdominal wall muscle weakness	Labai dažnai (80–99%)
Shield chest	Labai dažnai (80–99%)
Abnormality of the chest	Dažnai (30–79%)
Double-Jointed	Dažnai (30–79%)
Generalized decreased muscle tone	Dažnai (30–79%)
Delayed bone maturation	Neužfiksuota
Osteopenia	Neužfiksuota
Pigeon chest	Neužfiksuota
Spasticity and rigidity of muscles	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormal aortic valve morphology	Visada
Increased spleen size	Visada
Ventricular septal hypertrophy	Visada
Abnormal cardiovascular system morphology	Labai dažnai (80–99%)
Abnormal heart valve morphology	Labai dažnai (80–99%)
An opening in the wall separating the top two chambers of the heart	Labai dažnai (80–99%)
Enlarged and thickened heart muscle	Labai dažnai (80–99%)
Narrowing of pulmonic valve	Labai dažnai (80–99%)
Abnormality of the lymphatic system	Dažnai (30–79%)
Collection of dilated blood vessels that forms mass	Dažnai (30–79%)
Disease of the heart muscle	Dažnai (30–79%)
Strawberry mark	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Curvature of little finger	Visada
Thickening of the outer layer of the skin of the palms and soles	Visada
Thickening of palms and soles	Labai dažnai (80–99%)
Abnormal morphology of ulna	Dažnai (30–79%)
Deep palm line	Dažnai (30–79%)
Outward turned elbows	Dažnai (30–79%)
Knock knees	Kartais (5–29%)
Finger joint hyperextensibility	Neužfiksuota
Multiple plantar creases	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Feeding difficulties	Visada
Feeding difficulties in infancy	Labai dažnai (80–99%)
Gastrostomy tube feeding in infancy	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Abnormality of the gastrointestinal tract	Kartais (5–29%)
Functional abnormality of the gastrointestinal tract	Kartais (5–29%)
Acid reflux	Neužfiksuota
Constipation	Neužfiksuota
Vomiting	Neužfiksuota

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Thickened helices	Visada
Abnormal helix morphology	Labai dažnai (80–99%)
Ears rotated toward back of head	Labai dažnai (80–99%)
Low-set ears	Labai dažnai (80–99%)
Large earlobe	Dažnai (30–79%)
Large ears	Dažnai (30–79%)
Hearing impairment	Kartais (5–29%)
Earlobe crease	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight	Labai dažnai (80–99%)
Faltering weight in infancy	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
High levels of amniotic fluid	Dažnai (30–79%)
Premature birth	Dažnai (30–79%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Undescended testes	Dažnai (30–79%)
Hydronephrosis	Kartais (5–29%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Heat intolerance	Visada
Swelling caused by excess lymph fluid under skin	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Prolonged bleeding time	Dažnai (30–79%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Decreased response to growth hormone stimulation test	Visada

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Baby eczema	Neužfiksuota

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MAP2K2 and how often each is seen. Find out more at hpo.jax.org.

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