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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.
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Abnormality of head or neck
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Curly hair | Always |
| Excessive sweating | Always |
| Few cafe-au-lait spots | Always |
| Hyperkeratosis | Always |
| Brittle hair | Very often (80–99%) |
| Dry skin | Very often (80–99%) |
| Excessive wrinkled skin | Very often (80–99%) |
| Fine hair | Very often (80–99%) |
| Chicken skin | Often (30–79%) |
| Generalized hyperpigmentation | Often (30–79%) |
| Hyperelastic skin | Often (30–79%) |
| Ichthyosis | Often (30–79%) |
| Liver spots | Often (30–79%) |
| Multiple birthmarks | Often (30–79%) |
| Patchy darkened skin | Often (30–79%) |
| Poor fingernail formation | Often (30–79%) |
| Slow-growing hair | Often (30–79%) |
| Sparse hair | Often (30–79%) |
| Afro-textured hair | Sometimes (5–29%) |
| Birthmark | Sometimes (5–29%) |
| Loose redundant skin | Sometimes (5–29%) |
| Numerous moles | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Funnel chest | Always |
| Low muscle tone | Always |
| Wide rib cage | Always |
| Bone pain | Very often (80–99%) |
| Breakdown of bone | Very often (80–99%) |
| Shield chest | Very often (80–99%) |
| Generalized decreased muscle tone | Often (30–79%) |
| Low solidness and mass of the bones | Often (30–79%) |
| Scoliosis | Often (30–79%) |
| Abnormality of the sternum | Sometimes (5–29%) |
| Bone overgrowth | Not recorded |
| Delayed bone maturation | Not recorded |
| Increased bone mineral density | Not recorded |
| Kyphoscoliosis | Not recorded |
| Melorheostosis | Not recorded |
| Osteopenia | Not recorded |
| Pectus excavatum of inferior sternum | Not recorded |
| Pigeon chest | Not recorded |
| Spasticity and rigidity of muscles | Not recorded |
| Superior pectus carinatum | Not recorded |
| Synovitis | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Decrease in size of the outer layer of the brain due to loss of brain cells | Always |
| Degeneration of cerebrum | Always |
| Intellectual disability, severe | Always |
| Severe global developmental delay | Always |
| Abnormal speech pattern | Very often (80–99%) |
| Global developmental delay | Very often (80–99%) |
| Intellectual disability | Very often (80–99%) |
| Autism | Often (30–79%) |
| EEG abnormality | Often (30–79%) |
| Epilepsy | Often (30–79%) |
| Motor delay | Often (30–79%) |
| Ataxia | Sometimes (5–29%) |
| Difficulty articulating speech | Sometimes (5–29%) |
| Mental deterioration | Sometimes (5–29%) |
| Peripheral axonal neuropathy | Sometimes (5–29%) |
| Too much cerebrospinal fluid in the brain | Sometimes (5–29%) |
| Aplasia/Hypoplasia of the corpus callosum | Not recorded |
| Tongue thrusting | Not recorded |
| Underdeveloped frontal lobe | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Blue eyes | Always |
| Bulging eye | Always |
| Farsightedness | Always |
| Abnormality of the eye | Very often (80–99%) |
| Abnormality of vision | Very often (80–99%) |
| Close sighted | Often (30–79%) |
| Cross-eyed | Often (30–79%) |
| Drooping upper eyelid | Often (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Often (30–79%) |
| Wide-set eyes | Often (30–79%) |
| Cerebral visual impairment | Sometimes (5–29%) |
| Optic atrophy | Sometimes (5–29%) |
| Oculomotor apraxia | Not recorded |
| Optic nerve dysplasia | Not recorded |
| Progressive loss of vision | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Increased spleen size | Always |
| Abnormal cardiovascular system morphology | Very often (80–99%) |
| Abnormal heart valve morphology | Very often (80–99%) |
| An opening in the wall separating the top two chambers of the heart | Very often (80–99%) |
| Narrowing of pulmonic valve | Very often (80–99%) |
| Collection of dilated blood vessels that forms mass | Often (30–79%) |
| Disease of the heart muscle | Often (30–79%) |
| Enlarged and thickened heart muscle | Often (30–79%) |
| Swollen lymph nodes | Often (30–79%) |
| Hole in heart wall separating two lower heart chambers | Rarely (1–4%) |
| Narrowing of aorta | Not recorded |
| Patent ductus arteriosus | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Curvature of little finger | Always |
| Thickening of palms and soles | Very often (80–99%) |
| Abnormal morphology of ulna | Often (30–79%) |
| Deep palm line | Often (30–79%) |
| Outward turned elbows | Often (30–79%) |
| Knock knees | Sometimes (5–29%) |
| Curvature of digit | Not recorded |
| Finger joint hyperextensibility | Not recorded |
| Multiple plantar creases | Not recorded |
| Radial deviation of finger | Not recorded |
| Short fingers or toes | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties | Always |
| Feeding difficulties in infancy | Very often (80–99%) |
| Enlarged liver | Often (30–79%) |
| Gastrostomy tube feeding in infancy | Often (30–79%) |
| Abnormality of the gastrointestinal tract | Sometimes (5–29%) |
| Functional abnormality of the gastrointestinal tract | Sometimes (5–29%) |
| Liver failure | Rarely (1–4%) |
| Sclerosing cholangitis | Rarely (1–4%) |
| Acid reflux | Not recorded |
| Constipation | Not recorded |
| Vomiting | Not recorded |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Bruising susceptibility | Often (30–79%) |
| Bleeding tendency | Sometimes (5–29%) |
| Decreased blood leukocyte number | Sometimes (5–29%) |
| Juvenile myelomonocytic leukemia | Sometimes (5–29%) |
| Low platelet count | Sometimes (5–29%) |
| Amegakaryocytic thrombocytopenia | Not recorded |
| Reduced factor XII activity | Not recorded |
| Reduced factor XIII activity | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Thickened helices | Always |
| Low-set ears | Very often (80–99%) |
| Ears rotated toward back of head | Often (30–79%) |
| Large earlobe | Often (30–79%) |
| Large ears | Often (30–79%) |
| Hearing impairment | Sometimes (5–29%) |
| Earlobe crease | Not recorded |
| Sensorineural hearing impairment | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Very often (80–99%) |
| Faltering weight in infancy | Very often (80–99%) |
| Short stature | Very often (80–99%) |
| Growth delay | Sometimes (5–29%) |
| Weight loss | Sometimes (5–29%) |
| Growth delay as children | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Undescended testes | Very often (80–99%) |
| Genital ulcers | Sometimes (5–29%) |
| Hydronephrosis | Sometimes (5–29%) |
| Hypospadias | Sometimes (5–29%) |
| Male infertility | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Heat intolerance | Always |
| Fever | Often (30–79%) |
| Chylothorax | Sometimes (5–29%) |
| Low albumin | Sometimes (5–29%) |
| Swelling caused by excess lymph fluid under skin | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Cough | Often (30–79%) |
| Pulmonary Langerhans cell histiocytosis | Sometimes (5–29%) |
| Spontaneous collapsed lung | Sometimes (5–29%) |
| Respiratory function loss | Rarely (1–4%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Decreased activity of gonads | Sometimes (5–29%) |
| Diabetes insipidus | Sometimes (5–29%) |
| Reduced circulating growth hormone concentration | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Eczema | Often (30–79%) |
| Skin rash | Often (30–79%) |
| Baby eczema | Not recorded |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Premature birth | Often (30–79%) |
| High levels of amniotic fluid | Not recorded |
Abnormal tissue mass
| Trait | How often it is seen |
|---|---|
| Malignant peripheral nerve sheath tumor | Not recorded |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Wide-spaced nipples | Often (30–79%) |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- 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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