Traits

Traits linked to MAP2K1

mitogen-activated protein kinase kinase 1

The Human Phenotype Ontology links 206 traits to MAP2K1, 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
Full lower lip	Visada
Long philtrum	Visada
Short nose	Visada
Sparse eyebrow	Visada
Abnormal eyelashes	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%)
Flattened bony protrusion above eyes	Labai dažnai (80–99%)
Full cheeks	Labai dažnai (80–99%)
Long face	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Sparse or absent eyebrows	Labai dažnai (80–99%)
Big calvaria	Dažnai (30–79%)
Broad forehead	Dažnai (30–79%)
Cheekbone underdevelopment	Dažnai (30–79%)
Decreased width of the skull	Dažnai (30–79%)
Deep philtrum	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
Eye folds	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 or absent eyelashes	Dažnai (30–79%)
Webbed neck	Dažnai (30–79%)
Cleft palate	Kartais (5–29%)
Long, narrow head	Kartais (5–29%)
Mouth sore	Kartais (5–29%)
Submucous cleft hard palate	Kartais (5–29%)
Abnormal dentition	Neužfiksuota
Absent eyelashes	Neužfiksuota
Bad bite	Neužfiksuota
Cystic hygroma	Neužfiksuota
High, narrow palate	Neužfiksuota
Little lower jaw	Neužfiksuota
Open bite	Neužfiksuota
Open mouth	Neužfiksuota
Relatively large head	Neužfiksuota
Triangular face	Neužfiksuota
Wide mouth	Neužfiksuota

Abnormality of the integument

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

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Funnel chest	Visada
Low muscle tone	Visada
Wide rib cage	Visada
Bone pain	Labai dažnai (80–99%)
Breakdown of bone	Labai dažnai (80–99%)
Shield chest	Labai dažnai (80–99%)
Generalized decreased muscle tone	Dažnai (30–79%)
Low solidness and mass of the bones	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormality of the sternum	Kartais (5–29%)
Bone overgrowth	Neužfiksuota
Delayed bone maturation	Neužfiksuota
Increased bone mineral density	Neužfiksuota
Kyphoscoliosis	Neužfiksuota
Melorheostosis	Neužfiksuota
Osteopenia	Neužfiksuota
Pectus excavatum of inferior sternum	Neužfiksuota
Pigeon chest	Neužfiksuota
Spasticity and rigidity of muscles	Neužfiksuota
Superior pectus carinatum	Neužfiksuota
Synovitis	Neužfiksuota

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
Abnormal speech pattern	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Autism	Dažnai (30–79%)
EEG abnormality	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Ataxia	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Mental deterioration	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
Farsightedness	Visada
Abnormality of the eye	Labai dažnai (80–99%)
Abnormality of vision	Labai dažnai (80–99%)
Close sighted	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
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 cardiovascular system

Trait	Kaip dažnai pasireiškia
Increased spleen size	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%)
Narrowing of pulmonic valve	Labai dažnai (80–99%)
Collection of dilated blood vessels that forms mass	Dažnai (30–79%)
Disease of the heart muscle	Dažnai (30–79%)
Enlarged and thickened heart muscle	Dažnai (30–79%)
Swollen lymph nodes	Dažnai (30–79%)
Hole in heart wall separating two lower heart chambers	Retai (1–4 %)
Narrowing of aorta	Neužfiksuota
Patent ductus arteriosus	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Curvature of little finger	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%)
Curvature of digit	Neužfiksuota
Finger joint hyperextensibility	Neužfiksuota
Multiple plantar creases	Neužfiksuota
Radial deviation of finger	Neužfiksuota
Short fingers or toes	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Feeding difficulties	Visada
Feeding difficulties in infancy	Labai dažnai (80–99%)
Enlarged liver	Dažnai (30–79%)
Gastrostomy tube feeding in infancy	Dažnai (30–79%)
Abnormality of the gastrointestinal tract	Kartais (5–29%)
Functional abnormality of the gastrointestinal tract	Kartais (5–29%)
Liver failure	Retai (1–4 %)
Sclerosing cholangitis	Retai (1–4 %)
Acid reflux	Neužfiksuota
Constipation	Neužfiksuota
Vomiting	Neužfiksuota

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Bruising susceptibility	Dažnai (30–79%)
Bleeding tendency	Kartais (5–29%)
Decreased blood leukocyte number	Kartais (5–29%)
Juvenile myelomonocytic leukemia	Kartais (5–29%)
Low platelet count	Kartais (5–29%)
Amegakaryocytic thrombocytopenia	Neužfiksuota
Reduced factor XII activity	Neužfiksuota
Reduced factor XIII activity	Neužfiksuota

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Thickened helices	Visada
Low-set ears	Labai dažnai (80–99%)
Ears rotated toward back of head	Dažnai (30–79%)
Large earlobe	Dažnai (30–79%)
Large ears	Dažnai (30–79%)
Hearing impairment	Kartais (5–29%)
Earlobe crease	Neužfiksuota
Sensorineural hearing impairment	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%)
Growth delay	Kartais (5–29%)
Weight loss	Kartais (5–29%)
Growth delay as children	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Undescended testes	Labai dažnai (80–99%)
Genital ulcers	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Male infertility	Neužfiksuota

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Heat intolerance	Visada
Fever	Dažnai (30–79%)
Chylothorax	Kartais (5–29%)
Low albumin	Kartais (5–29%)
Swelling caused by excess lymph fluid under skin	Kartais (5–29%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Cough	Dažnai (30–79%)
Pulmonary Langerhans cell histiocytosis	Kartais (5–29%)
Spontaneous collapsed lung	Kartais (5–29%)
Respiratory function loss	Retai (1–4 %)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Decreased activity of gonads	Kartais (5–29%)
Diabetes insipidus	Kartais (5–29%)
Reduced circulating growth hormone concentration	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Eczema	Dažnai (30–79%)
Skin rash	Dažnai (30–79%)
Baby eczema	Neužfiksuota

Abnormality of prenatal development or birth

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

Abnormal tissue mass

Trait	Kaip dažnai pasireiškia
Malignant peripheral nerve sheath tumor	Neužfiksuota

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Wide-spaced nipples	Dažnai (30–79%)

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 MAP2K1 and how often each is seen. Find out more at hpo.jax.org.

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