Trăsături

Trăsături asociate cu MAP2K1

mitogen-activated protein kinase kinase 1

Human Phenotype Ontology asociază 206 trăsături cu MAP2K1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Broad neck	Întotdeauna
Bulbous nose	Întotdeauna
Coarse facial features	Întotdeauna
Full lower lip	Întotdeauna
Long philtrum	Întotdeauna
Short nose	Întotdeauna
Sparse eyebrow	Întotdeauna
Abnormal eyelashes	Foarte des (80–99%)
Absent eyebrow	Foarte des (80–99%)
Broad opening between the eyelids	Foarte des (80–99%)
Depressed nasal bridge	Foarte des (80–99%)
Flattened bony protrusion above eyes	Foarte des (80–99%)
Full cheeks	Foarte des (80–99%)
Long face	Foarte des (80–99%)
Nasal tip, upturned	Foarte des (80–99%)
Sparse or absent eyebrows	Foarte des (80–99%)
Big calvaria	Des (30–79%)
Broad forehead	Des (30–79%)
Cheekbone underdevelopment	Des (30–79%)
Decreased width of the skull	Des (30–79%)
Deep philtrum	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Eye folds	Des (30–79%)
Frontal bossing	Des (30–79%)
Full lips	Des (30–79%)
High forehead	Des (30–79%)
High palate	Des (30–79%)
Low hairline at back of neck	Des (30–79%)
Narrow forehead	Des (30–79%)
Palpebral thickening	Des (30–79%)
Prominent forehead	Des (30–79%)
Short neck	Des (30–79%)
Sparse or absent eyelashes	Des (30–79%)
Webbed neck	Des (30–79%)
Cleft palate	Uneori (5–29%)
Long, narrow head	Uneori (5–29%)
Mouth sore	Uneori (5–29%)
Submucous cleft hard palate	Uneori (5–29%)
Abnormal dentition	Neînregistrat
Absent eyelashes	Neînregistrat
Bad bite	Neînregistrat
Cystic hygroma	Neînregistrat
High, narrow palate	Neînregistrat
Little lower jaw	Neînregistrat
Open bite	Neînregistrat
Open mouth	Neînregistrat
Relatively large head	Neînregistrat
Triangular face	Neînregistrat
Wide mouth	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Curly hair	Întotdeauna
Excessive sweating	Întotdeauna
Few cafe-au-lait spots	Întotdeauna
Hyperkeratosis	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%)
Chicken skin	Des (30–79%)
Generalized hyperpigmentation	Des (30–79%)
Hyperelastic skin	Des (30–79%)
Ichthyosis	Des (30–79%)
Liver spots	Des (30–79%)
Multiple birthmarks	Des (30–79%)
Patchy darkened skin	Des (30–79%)
Poor fingernail formation	Des (30–79%)
Slow-growing hair	Des (30–79%)
Sparse hair	Des (30–79%)
Afro-textured hair	Uneori (5–29%)
Birthmark	Uneori (5–29%)
Loose redundant skin	Uneori (5–29%)
Numerous moles	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Funnel chest	Întotdeauna
Low muscle tone	Întotdeauna
Wide rib cage	Întotdeauna
Bone pain	Foarte des (80–99%)
Breakdown of bone	Foarte des (80–99%)
Shield chest	Foarte des (80–99%)
Generalized decreased muscle tone	Des (30–79%)
Low solidness and mass of the bones	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormality of the sternum	Uneori (5–29%)
Bone overgrowth	Neînregistrat
Delayed bone maturation	Neînregistrat
Increased bone mineral density	Neînregistrat
Kyphoscoliosis	Neînregistrat
Melorheostosis	Neînregistrat
Osteopenia	Neînregistrat
Pectus excavatum of inferior sternum	Neînregistrat
Pigeon chest	Neînregistrat
Spasticity and rigidity of muscles	Neînregistrat
Superior pectus carinatum	Neînregistrat
Synovitis	Neînregistrat

Abnormality of the nervous system

Trăsătură	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
Abnormal speech pattern	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Autism	Des (30–79%)
EEG abnormality	Des (30–79%)
Epilepsy	Des (30–79%)
Motor delay	Des (30–79%)
Ataxia	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Mental deterioration	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

Trăsătură	Cât de frecvent apare
Blue eyes	Întotdeauna
Bulging eye	Întotdeauna
Farsightedness	Întotdeauna
Abnormality of the eye	Foarte des (80–99%)
Abnormality of vision	Foarte des (80–99%)
Close sighted	Des (30–79%)
Cross-eyed	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Wide-set eyes	Des (30–79%)
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 cardiovascular system

Trăsătură	Cât de frecvent apare
Increased spleen size	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%)
Narrowing of pulmonic valve	Foarte des (80–99%)
Collection of dilated blood vessels that forms mass	Des (30–79%)
Disease of the heart muscle	Des (30–79%)
Enlarged and thickened heart muscle	Des (30–79%)
Swollen lymph nodes	Des (30–79%)
Hole in heart wall separating two lower heart chambers	Rar (1–4%)
Narrowing of aorta	Neînregistrat
Patent ductus arteriosus	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of little finger	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%)
Curvature of digit	Neînregistrat
Finger joint hyperextensibility	Neînregistrat
Multiple plantar creases	Neînregistrat
Radial deviation of finger	Neînregistrat
Short fingers or toes	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Întotdeauna
Feeding difficulties in infancy	Foarte des (80–99%)
Enlarged liver	Des (30–79%)
Gastrostomy tube feeding in infancy	Des (30–79%)
Abnormality of the gastrointestinal tract	Uneori (5–29%)
Functional abnormality of the gastrointestinal tract	Uneori (5–29%)
Liver failure	Rar (1–4%)
Sclerosing cholangitis	Rar (1–4%)
Acid reflux	Neînregistrat
Constipation	Neînregistrat
Vomiting	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bruising susceptibility	Des (30–79%)
Bleeding tendency	Uneori (5–29%)
Decreased blood leukocyte number	Uneori (5–29%)
Juvenile myelomonocytic leukemia	Uneori (5–29%)
Low platelet count	Uneori (5–29%)
Amegakaryocytic thrombocytopenia	Neînregistrat
Reduced factor XII activity	Neînregistrat
Reduced factor XIII activity	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Thickened helices	Întotdeauna
Low-set ears	Foarte des (80–99%)
Ears rotated toward back of head	Des (30–79%)
Large earlobe	Des (30–79%)
Large ears	Des (30–79%)
Hearing impairment	Uneori (5–29%)
Earlobe crease	Neînregistrat
Sensorineural hearing impairment	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Faltering weight in infancy	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Growth delay	Uneori (5–29%)
Weight loss	Uneori (5–29%)
Growth delay as children	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Foarte des (80–99%)
Genital ulcers	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Male infertility	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Heat intolerance	Întotdeauna
Fever	Des (30–79%)
Chylothorax	Uneori (5–29%)
Low albumin	Uneori (5–29%)
Swelling caused by excess lymph fluid under skin	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Cough	Des (30–79%)
Pulmonary Langerhans cell histiocytosis	Uneori (5–29%)
Spontaneous collapsed lung	Uneori (5–29%)
Respiratory function loss	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased activity of gonads	Uneori (5–29%)
Diabetes insipidus	Uneori (5–29%)
Reduced circulating growth hormone concentration	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Eczema	Des (30–79%)
Skin rash	Des (30–79%)
Baby eczema	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Premature birth	Des (30–79%)
High levels of amniotic fluid	Neînregistrat

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Malignant peripheral nerve sheath tumor	Neînregistrat

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Des (30–79%)

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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu MAP2K1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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