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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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Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
Abnormality of the integument
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Curly hair | Alati |
| Excessive sweating | Alati |
| Few cafe-au-lait spots | Alati |
| Liver spots | Alati |
| Sparse hair | Alati |
| Brittle hair | Väga sageli (80–99%) |
| Dry skin | Väga sageli (80–99%) |
| Excessive wrinkled skin | Väga sageli (80–99%) |
| Fine hair | Väga sageli (80–99%) |
| Multiple birthmarks | Väga sageli (80–99%) |
| Birthmark | Sageli (30–79%) |
| Chicken skin | Sageli (30–79%) |
| Generalized hyperpigmentation | Sageli (30–79%) |
| Hyperelastic skin | Sageli (30–79%) |
| Hyperkeratosis | Sageli (30–79%) |
| Ichthyosis | Sageli (30–79%) |
| Patchy darkened skin | Sageli (30–79%) |
| Poor fingernail formation | Sageli (30–79%) |
| Slow-growing hair | Sageli (30–79%) |
| Loose redundant skin | Mõnikord (5–29%) |
| Numerous moles | Mõnikord (5–29%) |
Abnormality of the nervous system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Decrease in size of the outer layer of the brain due to loss of brain cells | Alati |
| Degeneration of cerebrum | Alati |
| Intellectual disability, severe | Alati |
| Severe global developmental delay | Alati |
| Small cerebellum | Alati |
| Thin corpus callosum | Alati |
| Abnormal speech pattern | Väga sageli (80–99%) |
| Global developmental delay | Väga sageli (80–99%) |
| Intellectual disability | Väga sageli (80–99%) |
| Specific learning disability | Väga sageli (80–99%) |
| Autism | Sageli (30–79%) |
| EEG abnormality | Sageli (30–79%) |
| Epilepsy | Sageli (30–79%) |
| Motor delay | Sageli (30–79%) |
| Difficulty articulating speech | Mõnikord (5–29%) |
| Peripheral axonal neuropathy | Mõnikord (5–29%) |
| Too much cerebrospinal fluid in the brain | Mõnikord (5–29%) |
| Aplasia/Hypoplasia of the corpus callosum | Pole registreeritud |
| Tongue thrusting | Pole registreeritud |
| Underdeveloped frontal lobe | Pole registreeritud |
Abnormality of the eye
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Blue eyes | Alati |
| Bulging eye | Alati |
| Close sighted | Alati |
| Clouding of the lens of the eye | Alati |
| Cross-eyed | Alati |
| Drooping upper eyelid | Alati |
| Farsightedness | Alati |
| Involuntary, rapid, rhythmic eye movements | Alati |
| Optic nerve hypoplasia | Alati |
| Abnormality of the eye | Väga sageli (80–99%) |
| Abnormality of vision | Väga sageli (80–99%) |
| Wide-set eyes | Väga sageli (80–99%) |
| Cerebral visual impairment | Mõnikord (5–29%) |
| Optic atrophy | Mõnikord (5–29%) |
| Oculomotor apraxia | Pole registreeritud |
| Optic nerve dysplasia | Pole registreeritud |
| Progressive loss of vision | Pole registreeritud |
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Funnel chest | Alati |
| Low muscle tone | Alati |
| Scoliosis | Alati |
| Wide rib cage | Alati |
| Abdominal wall muscle weakness | Väga sageli (80–99%) |
| Shield chest | Väga sageli (80–99%) |
| Abnormality of the chest | Sageli (30–79%) |
| Double-Jointed | Sageli (30–79%) |
| Generalized decreased muscle tone | Sageli (30–79%) |
| Delayed bone maturation | Pole registreeritud |
| Osteopenia | Pole registreeritud |
| Pigeon chest | Pole registreeritud |
| Spasticity and rigidity of muscles | Pole registreeritud |
Abnormality of the cardiovascular system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal aortic valve morphology | Alati |
| Increased spleen size | Alati |
| Ventricular septal hypertrophy | Alati |
| Abnormal cardiovascular system morphology | Väga sageli (80–99%) |
| Abnormal heart valve morphology | Väga sageli (80–99%) |
| An opening in the wall separating the top two chambers of the heart | Väga sageli (80–99%) |
| Enlarged and thickened heart muscle | Väga sageli (80–99%) |
| Narrowing of pulmonic valve | Väga sageli (80–99%) |
| Abnormality of the lymphatic system | Sageli (30–79%) |
| Collection of dilated blood vessels that forms mass | Sageli (30–79%) |
| Disease of the heart muscle | Sageli (30–79%) |
| Strawberry mark | Mõnikord (5–29%) |
Abnormality of limbs
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Curvature of little finger | Alati |
| Thickening of the outer layer of the skin of the palms and soles | Alati |
| Thickening of palms and soles | Väga sageli (80–99%) |
| Abnormal morphology of ulna | Sageli (30–79%) |
| Deep palm line | Sageli (30–79%) |
| Outward turned elbows | Sageli (30–79%) |
| Knock knees | Mõnikord (5–29%) |
| Finger joint hyperextensibility | Pole registreeritud |
| Multiple plantar creases | Pole registreeritud |
Abnormality of the digestive system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Feeding difficulties | Alati |
| Feeding difficulties in infancy | Väga sageli (80–99%) |
| Gastrostomy tube feeding in infancy | Sageli (30–79%) |
| Poor swallowing | Sageli (30–79%) |
| Abnormality of the gastrointestinal tract | Mõnikord (5–29%) |
| Functional abnormality of the gastrointestinal tract | Mõnikord (5–29%) |
| Acid reflux | Pole registreeritud |
| Constipation | Pole registreeritud |
| Vomiting | Pole registreeritud |
Abnormality of the ear
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Thickened helices | Alati |
| Abnormal helix morphology | Väga sageli (80–99%) |
| Ears rotated toward back of head | Väga sageli (80–99%) |
| Low-set ears | Väga sageli (80–99%) |
| Large earlobe | Sageli (30–79%) |
| Large ears | Sageli (30–79%) |
| Hearing impairment | Mõnikord (5–29%) |
| Earlobe crease | Pole registreeritud |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Väga sageli (80–99%) |
| Faltering weight in infancy | Väga sageli (80–99%) |
| Short stature | Väga sageli (80–99%) |
Abnormality of prenatal development or birth
| Trait | Kui sageli seda täheldatakse |
|---|---|
| High levels of amniotic fluid | Sageli (30–79%) |
| Premature birth | Sageli (30–79%) |
Abnormality of the genitourinary system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Undescended testes | Sageli (30–79%) |
| Hydronephrosis | Mõnikord (5–29%) |
Laboratory abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Heat intolerance | Alati |
| Swelling caused by excess lymph fluid under skin | Mõnikord (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Prolonged bleeding time | Sageli (30–79%) |
Abnormality of the endocrine system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Decreased response to growth hormone stimulation test | Alati |
Abnormality of the immune system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Baby eczema | Pole registreeritud |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- 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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