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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.
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Abnormality of head or neck
Abnormality of the integument
| Trait | Cât de frecvent apare |
|---|---|
| Curly hair | Întotdeauna |
| Excessive sweating | Întotdeauna |
| Few cafe-au-lait spots | Întotdeauna |
| Liver spots | Întotdeauna |
| Sparse hair | Întotdeauna |
| Brittle hair | Foarte des (80–99%) |
| Dry skin | Foarte des (80–99%) |
| Excessive wrinkled skin | Foarte des (80–99%) |
| Fine hair | Foarte des (80–99%) |
| Multiple birthmarks | Foarte des (80–99%) |
| Birthmark | Des (30–79%) |
| Chicken skin | Des (30–79%) |
| Generalized hyperpigmentation | Des (30–79%) |
| Hyperelastic skin | Des (30–79%) |
| Hyperkeratosis | Des (30–79%) |
| Ichthyosis | Des (30–79%) |
| Patchy darkened skin | Des (30–79%) |
| Poor fingernail formation | Des (30–79%) |
| Slow-growing hair | Des (30–79%) |
| Loose redundant skin | Uneori (5–29%) |
| Numerous moles | Uneori (5–29%) |
Abnormality of the nervous system
| Trait | Cât de frecvent apare |
|---|---|
| Decrease in size of the outer layer of the brain due to loss of brain cells | Întotdeauna |
| Degeneration of cerebrum | Întotdeauna |
| Intellectual disability, severe | Întotdeauna |
| Severe global developmental delay | Întotdeauna |
| Small cerebellum | Întotdeauna |
| Thin corpus callosum | Întotdeauna |
| Abnormal speech pattern | Foarte des (80–99%) |
| Global developmental delay | Foarte des (80–99%) |
| Intellectual disability | Foarte des (80–99%) |
| Specific learning disability | Foarte des (80–99%) |
| Autism | Des (30–79%) |
| EEG abnormality | Des (30–79%) |
| Epilepsy | Des (30–79%) |
| Motor delay | Des (30–79%) |
| Difficulty articulating speech | Uneori (5–29%) |
| Peripheral axonal neuropathy | Uneori (5–29%) |
| Too much cerebrospinal fluid in the brain | Uneori (5–29%) |
| Aplasia/Hypoplasia of the corpus callosum | Neînregistrat |
| Tongue thrusting | Neînregistrat |
| Underdeveloped frontal lobe | Neînregistrat |
Abnormality of the eye
| Trait | Cât de frecvent apare |
|---|---|
| Blue eyes | Întotdeauna |
| Bulging eye | Întotdeauna |
| Close sighted | Întotdeauna |
| Clouding of the lens of the eye | Întotdeauna |
| Cross-eyed | Întotdeauna |
| Drooping upper eyelid | Întotdeauna |
| Farsightedness | Întotdeauna |
| Involuntary, rapid, rhythmic eye movements | Întotdeauna |
| Optic nerve hypoplasia | Întotdeauna |
| Abnormality of the eye | Foarte des (80–99%) |
| Abnormality of vision | Foarte des (80–99%) |
| Wide-set eyes | Foarte des (80–99%) |
| Cerebral visual impairment | Uneori (5–29%) |
| Optic atrophy | Uneori (5–29%) |
| Oculomotor apraxia | Neînregistrat |
| Optic nerve dysplasia | Neînregistrat |
| Progressive loss of vision | Neînregistrat |
Abnormality of the musculoskeletal system
| Trait | Cât de frecvent apare |
|---|---|
| Funnel chest | Întotdeauna |
| Low muscle tone | Întotdeauna |
| Scoliosis | Întotdeauna |
| Wide rib cage | Întotdeauna |
| Abdominal wall muscle weakness | Foarte des (80–99%) |
| Shield chest | Foarte des (80–99%) |
| Abnormality of the chest | Des (30–79%) |
| Double-Jointed | Des (30–79%) |
| Generalized decreased muscle tone | Des (30–79%) |
| Delayed bone maturation | Neînregistrat |
| Osteopenia | Neînregistrat |
| Pigeon chest | Neînregistrat |
| Spasticity and rigidity of muscles | Neînregistrat |
Abnormality of the cardiovascular system
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal aortic valve morphology | Întotdeauna |
| Increased spleen size | Întotdeauna |
| Ventricular septal hypertrophy | Întotdeauna |
| Abnormal cardiovascular system morphology | Foarte des (80–99%) |
| Abnormal heart valve morphology | Foarte des (80–99%) |
| An opening in the wall separating the top two chambers of the heart | Foarte des (80–99%) |
| Enlarged and thickened heart muscle | Foarte des (80–99%) |
| Narrowing of pulmonic valve | Foarte des (80–99%) |
| Abnormality of the lymphatic system | Des (30–79%) |
| Collection of dilated blood vessels that forms mass | Des (30–79%) |
| Disease of the heart muscle | Des (30–79%) |
| Strawberry mark | Uneori (5–29%) |
Abnormality of limbs
| Trait | Cât de frecvent apare |
|---|---|
| Curvature of little finger | Întotdeauna |
| Thickening of the outer layer of the skin of the palms and soles | Întotdeauna |
| Thickening of palms and soles | Foarte des (80–99%) |
| Abnormal morphology of ulna | Des (30–79%) |
| Deep palm line | Des (30–79%) |
| Outward turned elbows | Des (30–79%) |
| Knock knees | Uneori (5–29%) |
| Finger joint hyperextensibility | Neînregistrat |
| Multiple plantar creases | Neînregistrat |
Abnormality of the digestive system
| Trait | Cât de frecvent apare |
|---|---|
| Feeding difficulties | Întotdeauna |
| Feeding difficulties in infancy | Foarte des (80–99%) |
| Gastrostomy tube feeding in infancy | Des (30–79%) |
| Poor swallowing | Des (30–79%) |
| Abnormality of the gastrointestinal tract | Uneori (5–29%) |
| Functional abnormality of the gastrointestinal tract | Uneori (5–29%) |
| Acid reflux | Neînregistrat |
| Constipation | Neînregistrat |
| Vomiting | Neînregistrat |
Abnormality of the ear
| Trait | Cât de frecvent apare |
|---|---|
| Thickened helices | Întotdeauna |
| Abnormal helix morphology | Foarte des (80–99%) |
| Ears rotated toward back of head | Foarte des (80–99%) |
| Low-set ears | Foarte des (80–99%) |
| Large earlobe | Des (30–79%) |
| Large ears | Des (30–79%) |
| Hearing impairment | Uneori (5–29%) |
| Earlobe crease | Neînregistrat |
Growth abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Faltering weight | Foarte des (80–99%) |
| Faltering weight in infancy | Foarte des (80–99%) |
| Short stature | Foarte des (80–99%) |
Abnormality of prenatal development or birth
| Trait | Cât de frecvent apare |
|---|---|
| High levels of amniotic fluid | Des (30–79%) |
| Premature birth | Des (30–79%) |
Abnormality of the genitourinary system
| Trait | Cât de frecvent apare |
|---|---|
| Undescended testes | Des (30–79%) |
| Hydronephrosis | Uneori (5–29%) |
Laboratory abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Heat intolerance | Întotdeauna |
| Swelling caused by excess lymph fluid under skin | Uneori (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | Cât de frecvent apare |
|---|---|
| Prolonged bleeding time | Des (30–79%) |
Abnormality of the endocrine system
| Trait | Cât de frecvent apare |
|---|---|
| Decreased response to growth hormone stimulation test | Întotdeauna |
Abnormality of the immune system
| Trait | Cât de frecvent apare |
|---|---|
| Baby eczema | Neînregistrat |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- 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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