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

Abnormality of the integument

Trait	Hvor ofte det ses
Curly hair	Altid
Excessive sweating	Altid
Few cafe-au-lait spots	Altid
Liver spots	Altid
Sparse hair	Altid
Brittle hair	Meget ofte (80–99 %)
Dry skin	Meget ofte (80–99 %)
Excessive wrinkled skin	Meget ofte (80–99 %)
Fine hair	Meget ofte (80–99 %)
Multiple birthmarks	Meget ofte (80–99 %)
Birthmark	Ofte (30–79 %)
Chicken skin	Ofte (30–79 %)
Generalized hyperpigmentation	Ofte (30–79 %)
Hyperelastic skin	Ofte (30–79 %)
Hyperkeratosis	Ofte (30–79 %)
Ichthyosis	Ofte (30–79 %)
Patchy darkened skin	Ofte (30–79 %)
Poor fingernail formation	Ofte (30–79 %)
Slow-growing hair	Ofte (30–79 %)
Loose redundant skin	Nogle gange (5–29 %)
Numerous moles	Nogle gange (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte det ses
Decrease in size of the outer layer of the brain due to loss of brain cells	Altid
Degeneration of cerebrum	Altid
Intellectual disability, severe	Altid
Severe global developmental delay	Altid
Small cerebellum	Altid
Thin corpus callosum	Altid
Abnormal speech pattern	Meget ofte (80–99 %)
Global developmental delay	Meget ofte (80–99 %)
Intellectual disability	Meget ofte (80–99 %)
Specific learning disability	Meget ofte (80–99 %)
Autism	Ofte (30–79 %)
EEG abnormality	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Motor delay	Ofte (30–79 %)
Difficulty articulating speech	Nogle gange (5–29 %)
Peripheral axonal neuropathy	Nogle gange (5–29 %)
Too much cerebrospinal fluid in the brain	Nogle gange (5–29 %)
Aplasia/Hypoplasia of the corpus callosum	Ikke registreret
Tongue thrusting	Ikke registreret
Underdeveloped frontal lobe	Ikke registreret

Abnormality of the eye

Trait	Hvor ofte det ses
Blue eyes	Altid
Bulging eye	Altid
Close sighted	Altid
Clouding of the lens of the eye	Altid
Cross-eyed	Altid
Drooping upper eyelid	Altid
Farsightedness	Altid
Involuntary, rapid, rhythmic eye movements	Altid
Optic nerve hypoplasia	Altid
Abnormality of the eye	Meget ofte (80–99 %)
Abnormality of vision	Meget ofte (80–99 %)
Wide-set eyes	Meget ofte (80–99 %)
Cerebral visual impairment	Nogle gange (5–29 %)
Optic atrophy	Nogle gange (5–29 %)
Oculomotor apraxia	Ikke registreret
Optic nerve dysplasia	Ikke registreret
Progressive loss of vision	Ikke registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Funnel chest	Altid
Low muscle tone	Altid
Scoliosis	Altid
Wide rib cage	Altid
Abdominal wall muscle weakness	Meget ofte (80–99 %)
Shield chest	Meget ofte (80–99 %)
Abnormality of the chest	Ofte (30–79 %)
Double-Jointed	Ofte (30–79 %)
Generalized decreased muscle tone	Ofte (30–79 %)
Delayed bone maturation	Ikke registreret
Osteopenia	Ikke registreret
Pigeon chest	Ikke registreret
Spasticity and rigidity of muscles	Ikke registreret

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Abnormal aortic valve morphology	Altid
Increased spleen size	Altid
Ventricular septal hypertrophy	Altid
Abnormal cardiovascular system morphology	Meget ofte (80–99 %)
Abnormal heart valve morphology	Meget ofte (80–99 %)
An opening in the wall separating the top two chambers of the heart	Meget ofte (80–99 %)
Enlarged and thickened heart muscle	Meget ofte (80–99 %)
Narrowing of pulmonic valve	Meget ofte (80–99 %)
Abnormality of the lymphatic system	Ofte (30–79 %)
Collection of dilated blood vessels that forms mass	Ofte (30–79 %)
Disease of the heart muscle	Ofte (30–79 %)
Strawberry mark	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Curvature of little finger	Altid
Thickening of the outer layer of the skin of the palms and soles	Altid
Thickening of palms and soles	Meget ofte (80–99 %)
Abnormal morphology of ulna	Ofte (30–79 %)
Deep palm line	Ofte (30–79 %)
Outward turned elbows	Ofte (30–79 %)
Knock knees	Nogle gange (5–29 %)
Finger joint hyperextensibility	Ikke registreret
Multiple plantar creases	Ikke registreret

Abnormality of the digestive system

Trait	Hvor ofte det ses
Feeding difficulties	Altid
Feeding difficulties in infancy	Meget ofte (80–99 %)
Gastrostomy tube feeding in infancy	Ofte (30–79 %)
Poor swallowing	Ofte (30–79 %)
Abnormality of the gastrointestinal tract	Nogle gange (5–29 %)
Functional abnormality of the gastrointestinal tract	Nogle gange (5–29 %)
Acid reflux	Ikke registreret
Constipation	Ikke registreret
Vomiting	Ikke registreret

Abnormality of the ear

Trait	Hvor ofte det ses
Thickened helices	Altid
Abnormal helix morphology	Meget ofte (80–99 %)
Ears rotated toward back of head	Meget ofte (80–99 %)
Low-set ears	Meget ofte (80–99 %)
Large earlobe	Ofte (30–79 %)
Large ears	Ofte (30–79 %)
Hearing impairment	Nogle gange (5–29 %)
Earlobe crease	Ikke registreret

Growth abnormality

Trait	Hvor ofte det ses
Faltering weight	Meget ofte (80–99 %)
Faltering weight in infancy	Meget ofte (80–99 %)
Short stature	Meget ofte (80–99 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
High levels of amniotic fluid	Ofte (30–79 %)
Premature birth	Ofte (30–79 %)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Undescended testes	Ofte (30–79 %)
Hydronephrosis	Nogle gange (5–29 %)

Laboratory abnormality

Trait	Hvor ofte det ses
Heat intolerance	Altid
Swelling caused by excess lymph fluid under skin	Nogle gange (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte det ses
Prolonged bleeding time	Ofte (30–79 %)

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Decreased response to growth hormone stimulation test	Altid

Abnormality of the immune system

Trait	Hvor ofte det ses
Baby eczema	Ikke registreret

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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