AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
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.
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Abnormality of head or neck
Abnormality of the integument
| Trait | Hvor ofte den forekommer |
|---|---|
| Curly hair | Alltid |
| Excessive sweating | Alltid |
| Few cafe-au-lait spots | Alltid |
| Liver spots | Alltid |
| Sparse hair | Alltid |
| Brittle hair | Svært ofte (80–99 %) |
| Dry skin | Svært ofte (80–99 %) |
| Excessive wrinkled skin | Svært ofte (80–99 %) |
| Fine hair | Svært ofte (80–99 %) |
| Multiple birthmarks | Svært 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 | Noen ganger (5–29 %) |
| Numerous moles | Noen ganger (5–29 %) |
Abnormality of the nervous system
| Trait | Hvor ofte den forekommer |
|---|---|
| Decrease in size of the outer layer of the brain due to loss of brain cells | Alltid |
| Degeneration of cerebrum | Alltid |
| Intellectual disability, severe | Alltid |
| Severe global developmental delay | Alltid |
| Small cerebellum | Alltid |
| Thin corpus callosum | Alltid |
| Abnormal speech pattern | Svært ofte (80–99 %) |
| Global developmental delay | Svært ofte (80–99 %) |
| Intellectual disability | Svært ofte (80–99 %) |
| Specific learning disability | Svært ofte (80–99 %) |
| Autism | Ofte (30–79 %) |
| EEG abnormality | Ofte (30–79 %) |
| Epilepsy | Ofte (30–79 %) |
| Motor delay | Ofte (30–79 %) |
| Difficulty articulating speech | Noen ganger (5–29 %) |
| Peripheral axonal neuropathy | Noen ganger (5–29 %) |
| Too much cerebrospinal fluid in the brain | Noen ganger (5–29 %) |
| Aplasia/Hypoplasia of the corpus callosum | Ikke registrert |
| Tongue thrusting | Ikke registrert |
| Underdeveloped frontal lobe | Ikke registrert |
Abnormality of the eye
| Trait | Hvor ofte den forekommer |
|---|---|
| Blue eyes | Alltid |
| Bulging eye | Alltid |
| Close sighted | Alltid |
| Clouding of the lens of the eye | Alltid |
| Cross-eyed | Alltid |
| Drooping upper eyelid | Alltid |
| Farsightedness | Alltid |
| Involuntary, rapid, rhythmic eye movements | Alltid |
| Optic nerve hypoplasia | Alltid |
| Abnormality of the eye | Svært ofte (80–99 %) |
| Abnormality of vision | Svært ofte (80–99 %) |
| Wide-set eyes | Svært ofte (80–99 %) |
| Cerebral visual impairment | Noen ganger (5–29 %) |
| Optic atrophy | Noen ganger (5–29 %) |
| Oculomotor apraxia | Ikke registrert |
| Optic nerve dysplasia | Ikke registrert |
| Progressive loss of vision | Ikke registrert |
Abnormality of the musculoskeletal system
| Trait | Hvor ofte den forekommer |
|---|---|
| Funnel chest | Alltid |
| Low muscle tone | Alltid |
| Scoliosis | Alltid |
| Wide rib cage | Alltid |
| Abdominal wall muscle weakness | Svært ofte (80–99 %) |
| Shield chest | Svært 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 registrert |
| Osteopenia | Ikke registrert |
| Pigeon chest | Ikke registrert |
| Spasticity and rigidity of muscles | Ikke registrert |
Abnormality of the cardiovascular system
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormal aortic valve morphology | Alltid |
| Increased spleen size | Alltid |
| Ventricular septal hypertrophy | Alltid |
| Abnormal cardiovascular system morphology | Svært ofte (80–99 %) |
| Abnormal heart valve morphology | Svært ofte (80–99 %) |
| An opening in the wall separating the top two chambers of the heart | Svært ofte (80–99 %) |
| Enlarged and thickened heart muscle | Svært ofte (80–99 %) |
| Narrowing of pulmonic valve | Svært 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 | Noen ganger (5–29 %) |
Abnormality of limbs
| Trait | Hvor ofte den forekommer |
|---|---|
| Curvature of little finger | Alltid |
| Thickening of the outer layer of the skin of the palms and soles | Alltid |
| Thickening of palms and soles | Svært ofte (80–99 %) |
| Abnormal morphology of ulna | Ofte (30–79 %) |
| Deep palm line | Ofte (30–79 %) |
| Outward turned elbows | Ofte (30–79 %) |
| Knock knees | Noen ganger (5–29 %) |
| Finger joint hyperextensibility | Ikke registrert |
| Multiple plantar creases | Ikke registrert |
Abnormality of the digestive system
| Trait | Hvor ofte den forekommer |
|---|---|
| Feeding difficulties | Alltid |
| Feeding difficulties in infancy | Svært ofte (80–99 %) |
| Gastrostomy tube feeding in infancy | Ofte (30–79 %) |
| Poor swallowing | Ofte (30–79 %) |
| Abnormality of the gastrointestinal tract | Noen ganger (5–29 %) |
| Functional abnormality of the gastrointestinal tract | Noen ganger (5–29 %) |
| Acid reflux | Ikke registrert |
| Constipation | Ikke registrert |
| Vomiting | Ikke registrert |
Abnormality of the ear
| Trait | Hvor ofte den forekommer |
|---|---|
| Thickened helices | Alltid |
| Abnormal helix morphology | Svært ofte (80–99 %) |
| Ears rotated toward back of head | Svært ofte (80–99 %) |
| Low-set ears | Svært ofte (80–99 %) |
| Large earlobe | Ofte (30–79 %) |
| Large ears | Ofte (30–79 %) |
| Hearing impairment | Noen ganger (5–29 %) |
| Earlobe crease | Ikke registrert |
Growth abnormality
| Trait | Hvor ofte den forekommer |
|---|---|
| Faltering weight | Svært ofte (80–99 %) |
| Faltering weight in infancy | Svært ofte (80–99 %) |
| Short stature | Svært ofte (80–99 %) |
Abnormality of prenatal development or birth
| Trait | Hvor ofte den forekommer |
|---|---|
| High levels of amniotic fluid | Ofte (30–79 %) |
| Premature birth | Ofte (30–79 %) |
Abnormality of the genitourinary system
| Trait | Hvor ofte den forekommer |
|---|---|
| Undescended testes | Ofte (30–79 %) |
| Hydronephrosis | Noen ganger (5–29 %) |
Laboratory abnormality
| Trait | Hvor ofte den forekommer |
|---|---|
| Heat intolerance | Alltid |
| Swelling caused by excess lymph fluid under skin | Noen ganger (5–29 %) |
Abnormality of blood and blood-forming tissues
| Trait | Hvor ofte den forekommer |
|---|---|
| Prolonged bleeding time | Ofte (30–79 %) |
Abnormality of the endocrine system
| Trait | Hvor ofte den forekommer |
|---|---|
| Decreased response to growth hormone stimulation test | Alltid |
Abnormality of the immune system
| Trait | Hvor ofte den forekommer |
|---|---|
| Baby eczema | Ikke registrert |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Slik er informasjonen samlet
- 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.
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker