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Tunnused
Geeniga MAP2K1 seotud tunnused
mitogen-activated protein kinase kinase 1
Inimese fenotüübi ontoloogia seostab geeniga MAP2K1 206 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Curly hair | Alati |
| Excessive sweating | Alati |
| Few cafe-au-lait spots | Alati |
| Hyperkeratosis | 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%) |
| Chicken skin | Sageli (30–79%) |
| Generalized hyperpigmentation | Sageli (30–79%) |
| Hyperelastic skin | Sageli (30–79%) |
| Ichthyosis | Sageli (30–79%) |
| Liver spots | Sageli (30–79%) |
| Multiple birthmarks | Sageli (30–79%) |
| Patchy darkened skin | Sageli (30–79%) |
| Poor fingernail formation | Sageli (30–79%) |
| Slow-growing hair | Sageli (30–79%) |
| Sparse hair | Sageli (30–79%) |
| Afro-textured hair | Mõnikord (5–29%) |
| Birthmark | Mõnikord (5–29%) |
| Loose redundant skin | Mõnikord (5–29%) |
| Numerous moles | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Funnel chest | Alati |
| Low muscle tone | Alati |
| Wide rib cage | Alati |
| Bone pain | Väga sageli (80–99%) |
| Breakdown of bone | Väga sageli (80–99%) |
| Shield chest | Väga sageli (80–99%) |
| Generalized decreased muscle tone | Sageli (30–79%) |
| Low solidness and mass of the bones | Sageli (30–79%) |
| Scoliosis | Sageli (30–79%) |
| Abnormality of the sternum | Mõnikord (5–29%) |
| Bone overgrowth | Pole registreeritud |
| Delayed bone maturation | Pole registreeritud |
| Increased bone mineral density | Pole registreeritud |
| Kyphoscoliosis | Pole registreeritud |
| Melorheostosis | Pole registreeritud |
| Osteopenia | Pole registreeritud |
| Pectus excavatum of inferior sternum | Pole registreeritud |
| Pigeon chest | Pole registreeritud |
| Spasticity and rigidity of muscles | Pole registreeritud |
| Superior pectus carinatum | Pole registreeritud |
| Synovitis | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | 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 |
| Abnormal speech pattern | Väga sageli (80–99%) |
| Global developmental delay | Väga sageli (80–99%) |
| Intellectual disability | Väga sageli (80–99%) |
| Autism | Sageli (30–79%) |
| EEG abnormality | Sageli (30–79%) |
| Epilepsy | Sageli (30–79%) |
| Motor delay | Sageli (30–79%) |
| Ataxia | Mõnikord (5–29%) |
| Difficulty articulating speech | Mõnikord (5–29%) |
| Mental deterioration | 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
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Blue eyes | Alati |
| Bulging eye | Alati |
| Farsightedness | Alati |
| Abnormality of the eye | Väga sageli (80–99%) |
| Abnormality of vision | Väga sageli (80–99%) |
| Close sighted | Sageli (30–79%) |
| Cross-eyed | Sageli (30–79%) |
| Drooping upper eyelid | Sageli (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Sageli (30–79%) |
| Wide-set eyes | Sageli (30–79%) |
| 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 cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Increased spleen size | 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%) |
| Narrowing of pulmonic valve | Väga sageli (80–99%) |
| Collection of dilated blood vessels that forms mass | Sageli (30–79%) |
| Disease of the heart muscle | Sageli (30–79%) |
| Enlarged and thickened heart muscle | Sageli (30–79%) |
| Swollen lymph nodes | Sageli (30–79%) |
| Hole in heart wall separating two lower heart chambers | Harva (1–4%) |
| Narrowing of aorta | Pole registreeritud |
| Patent ductus arteriosus | Pole registreeritud |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Curvature of little finger | 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%) |
| Curvature of digit | Pole registreeritud |
| Finger joint hyperextensibility | Pole registreeritud |
| Multiple plantar creases | Pole registreeritud |
| Radial deviation of finger | Pole registreeritud |
| Short fingers or toes | Pole registreeritud |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Feeding difficulties | Alati |
| Feeding difficulties in infancy | Väga sageli (80–99%) |
| Enlarged liver | Sageli (30–79%) |
| Gastrostomy tube feeding in infancy | Sageli (30–79%) |
| Abnormality of the gastrointestinal tract | Mõnikord (5–29%) |
| Functional abnormality of the gastrointestinal tract | Mõnikord (5–29%) |
| Liver failure | Harva (1–4%) |
| Sclerosing cholangitis | Harva (1–4%) |
| Acid reflux | Pole registreeritud |
| Constipation | Pole registreeritud |
| Vomiting | Pole registreeritud |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bruising susceptibility | Sageli (30–79%) |
| Bleeding tendency | Mõnikord (5–29%) |
| Decreased blood leukocyte number | Mõnikord (5–29%) |
| Juvenile myelomonocytic leukemia | Mõnikord (5–29%) |
| Low platelet count | Mõnikord (5–29%) |
| Amegakaryocytic thrombocytopenia | Pole registreeritud |
| Reduced factor XII activity | Pole registreeritud |
| Reduced factor XIII activity | Pole registreeritud |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Thickened helices | Alati |
| Low-set ears | Väga sageli (80–99%) |
| Ears rotated toward back of head | Sageli (30–79%) |
| Large earlobe | Sageli (30–79%) |
| Large ears | Sageli (30–79%) |
| Hearing impairment | Mõnikord (5–29%) |
| Earlobe crease | Pole registreeritud |
| Sensorineural hearing impairment | Pole registreeritud |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Väga sageli (80–99%) |
| Faltering weight in infancy | Väga sageli (80–99%) |
| Short stature | Väga sageli (80–99%) |
| Growth delay | Mõnikord (5–29%) |
| Weight loss | Mõnikord (5–29%) |
| Growth delay as children | Pole registreeritud |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Undescended testes | Väga sageli (80–99%) |
| Genital ulcers | Mõnikord (5–29%) |
| Hydronephrosis | Mõnikord (5–29%) |
| Hypospadias | Mõnikord (5–29%) |
| Male infertility | Pole registreeritud |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Heat intolerance | Alati |
| Fever | Sageli (30–79%) |
| Chylothorax | Mõnikord (5–29%) |
| Low albumin | Mõnikord (5–29%) |
| Swelling caused by excess lymph fluid under skin | Mõnikord (5–29%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Cough | Sageli (30–79%) |
| Pulmonary Langerhans cell histiocytosis | Mõnikord (5–29%) |
| Spontaneous collapsed lung | Mõnikord (5–29%) |
| Respiratory function loss | Harva (1–4%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased activity of gonads | Mõnikord (5–29%) |
| Diabetes insipidus | Mõnikord (5–29%) |
| Reduced circulating growth hormone concentration | Mõnikord (5–29%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Eczema | Sageli (30–79%) |
| Skin rash | Sageli (30–79%) |
| Baby eczema | Pole registreeritud |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Premature birth | Sageli (30–79%) |
| High levels of amniotic fluid | Pole registreeritud |
Abnormal tissue mass
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Malignant peripheral nerve sheath tumor | Pole registreeritud |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wide-spaced nipples | Sageli (30–79%) |
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
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga MAP2K1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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