Požymiai

Su MAP3K7 susiję požymiai

mitogen-activated protein kinase kinase kinase 7

Žmogaus fenotipo ontologija sieja 151 požymį su MAP3K7: tai požymis, pastebimas žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Dislocated radial head	Visada
Short fingers or toes	Visada
Broad thumb	Labai dažnai (80–99%)
Flared wide portion of long bone	Labai dažnai (80–99%)
Fused wrist bones	Labai dažnai (80–99%)
Fusion of wrist bones	Labai dažnai (80–99%)
Joint contracture of the hand	Labai dažnai (80–99%)
Long fingers	Labai dažnai (80–99%)
Short finger bones	Labai dažnai (80–99%)
Short palm	Labai dažnai (80–99%)
Broad wide portion of long bone	Dažnai (30–79%)
Elbow flexion contracture	Dažnai (30–79%)
Fused ankle bones	Dažnai (30–79%)
Interphalangeal joint contracture of finger	Dažnai (30–79%)
Limitation of knee mobility	Dažnai (30–79%)
Limitation of movement at ankles	Dažnai (30–79%)
Limited elbow movement	Dažnai (30–79%)
Limited wrist movement	Dažnai (30–79%)
Metacarpophalangeal joint contracture	Dažnai (30–79%)
Permanent flexion of the finger	Dažnai (30–79%)
Pes valgus	Dažnai (30–79%)
Short long bone of foot	Dažnai (30–79%)
Short outermost bone of the thumb	Dažnai (30–79%)
Short outermost finger bone	Dažnai (30–79%)
Short shaft of long bone	Dažnai (30–79%)
Shortened long bone of hand	Dažnai (30–79%)
Ulnar deviation of the hand	Dažnai (30–79%)
Wrist flexion contracture	Dažnai (30–79%)
Degeneration of small hand muscles	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Progressive bowing of long bones	Kartais (5–29%)
Single transverse palmar crease	Kartais (5–29%)
Underdeveloped shoulder muscle	Kartais (5–29%)
Club feet	Neužfiksuota
Curvature of finger	Neužfiksuota
Dislocated hip since birth	Neužfiksuota
Hip contracture	Neužfiksuota
Short foot	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Bulbous nose	Visada
Decreased size of nasal tip	Visada
Eye folds	Visada
Full cheeks	Visada
Fullness around the eyes	Visada
Prominent brow	Visada
Wide mouth	Visada
Wide nasal bridge	Visada
Abnormal facial shape	Labai dažnai (80–99%)
Downward slanting of the opening between the eyelids	Labai dažnai (80–99%)
High, narrow palate	Labai dažnai (80–99%)
Little lower jaw	Labai dažnai (80–99%)
Long philtrum	Labai dažnai (80–99%)
Upward slanting of the opening between the eyelids	Labai dažnai (80–99%)
Abnormal dental position	Dažnai (30–79%)
Coarse facial features	Dažnai (30–79%)
Corners of eye widely separated	Dažnai (30–79%)
Dense bone of skull base	Dažnai (30–79%)
Nasal tip, upturned	Dažnai (30–79%)
Short chin	Dažnai (30–79%)
Unerupted adult teeth	Dažnai (30–79%)
Bifid uvula	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Deformity of the skull	Kartais (5–29%)
Failure of development of more than six teeth	Kartais (5–29%)
High palate	Kartais (5–29%)
Low frontal hairline	Kartais (5–29%)
Pierre-Robin sequence	Kartais (5–29%)
Webbed neck	Kartais (5–29%)
Broad nasal tip	Neužfiksuota
Deep philtrum	Neužfiksuota
Depressed nasal bridge	Neužfiksuota
Pointed chin	Neužfiksuota
Short philtrum	Neužfiksuota
Thick eyebrow	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Double-Jointed	Visada
Elbow contracture	Visada
Fused neck	Visada
Herniated disk	Visada
Low muscle tone	Visada
Abnormal skeletal development	Labai dažnai (80–99%)
Abnormal vertebral body morphology	Labai dažnai (80–99%)
Scoliosis	Labai dažnai (80–99%)
Cone-shaped end part of bone	Dažnai (30–79%)
Delayed bone maturation	Dažnai (30–79%)
Congenital diaphragmatic hernia	Kartais (5–29%)
Decreased muscle mass	Kartais (5–29%)
High shoulder blade	Kartais (5–29%)
Poorly developed skeletal musculature	Kartais (5–29%)
Funnel chest	Retai (1–4 %)
Permanent flexion of the finger or toe	Neužfiksuota
Pseudoepiphyses	Neužfiksuota
Rib fusion	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Dysplastic tricuspid valve	Visada
Muscular ventricular septal defect	Visada
Patent foramen ovale	Visada
Underdeveloped aortic arch	Visada
Mitral regurgitation	Labai dažnai (80–99%)
Mitral valve prolapse	Labai dažnai (80–99%)
Abnormality of the heart	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Aortic valve has two leaflets rather than three	Neužfiksuota
Narrowing of pulmonic valve	Neužfiksuota
Patent ductus arteriosus	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Congenital sensorineural hearing impairment	Visada
Low-set ears	Visada
Conductive deafness	Labai dažnai (80–99%)
Ears rotated toward back of head	Labai dažnai (80–99%)
Hearing impairment	Labai dažnai (80–99%)
Sensorineural hearing impairment	Labai dažnai (80–99%)
Recurrent middle ear infection	Dažnai (30–79%)
Abnormally shaped ears	Kartais (5–29%)
Enlarged vestibular aqueduct	Kartais (5–29%)
Fusion of middle ear ossicles	Kartais (5–29%)
Mixed hearing impairment	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Decreased testicular size	Visada
Hydronephrosis	Dažnai (30–79%)
Narrowing of the urethra	Dažnai (30–79%)
Ureteral obstruction	Dažnai (30–79%)
Horseshoe kidney	Kartais (5–29%)
Lack of bladder control due to nervous system injury	Kartais (5–29%)
Undescended testes	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Blue outer white part of eyeball	Visada
Drooping upper eyelid	Visada
Wide-set eyes	Visada
Cross-eyed	Dažnai (30–79%)
Abnormal cornea morphology	Kartais (5–29%)
Astigmatism	Kartais (5–29%)
Lazy eye	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Delayed gastric emptying	Visada
Feeding difficulties	Visada
Acid reflux	Labai dažnai (80–99%)
Feeding difficulties in infancy	Kartais (5–29%)
Pyloric stenosis	Kartais (5–29%)
Ulcerative colitis	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Chiari malformation	Kartais (5–29%)
Intellectual disability	Kartais (5–29%)
Intellectual disability, mild	Kartais (5–29%)
Spina bifida occulta	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Visada
Short stature	Visada
Severe short stature	Labai dažnai (80–99%)
Growth delay	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Soft skin	Visada
Keloids	Dažnai (30–79%)
Excessive hairiness	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Noisy breathing	Dažnai (30–79%)
Subglottic stenosis	Dažnai (30–79%)
Narrowing of windpipe	Neužfiksuota

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Less than 10 fetal movements in 12 hours	Visada

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Delayed puberty	Kartais (5–29%)

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

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su MAP3K7 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

Vienas testas. Atsakymai visam gyvenimui.

Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites

Įsigyti savo Genome Test