Trăsături

Trăsături asociate cu MAP3K7

mitogen-activated protein kinase kinase kinase 7

Human Phenotype Ontology asociază 151 trăsături cu MAP3K7, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of limbs

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

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Double-Jointed	Întotdeauna
Elbow contracture	Întotdeauna
Fused neck	Întotdeauna
Herniated disk	Întotdeauna
Low muscle tone	Întotdeauna
Abnormal skeletal development	Foarte des (80–99%)
Abnormal vertebral body morphology	Foarte des (80–99%)
Scoliosis	Foarte des (80–99%)
Cone-shaped end part of bone	Des (30–79%)
Delayed bone maturation	Des (30–79%)
Congenital diaphragmatic hernia	Uneori (5–29%)
Decreased muscle mass	Uneori (5–29%)
High shoulder blade	Uneori (5–29%)
Poorly developed skeletal musculature	Uneori (5–29%)
Funnel chest	Rar (1–4%)
Permanent flexion of the finger or toe	Neînregistrat
Pseudoepiphyses	Neînregistrat
Rib fusion	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Dysplastic tricuspid valve	Întotdeauna
Muscular ventricular septal defect	Întotdeauna
Patent foramen ovale	Întotdeauna
Underdeveloped aortic arch	Întotdeauna
Mitral regurgitation	Foarte des (80–99%)
Mitral valve prolapse	Foarte des (80–99%)
Abnormality of the heart	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Neînregistrat
Narrowing of pulmonic valve	Neînregistrat
Patent ductus arteriosus	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Congenital sensorineural hearing impairment	Întotdeauna
Low-set ears	Întotdeauna
Conductive deafness	Foarte des (80–99%)
Ears rotated toward back of head	Foarte des (80–99%)
Hearing impairment	Foarte des (80–99%)
Sensorineural hearing impairment	Foarte des (80–99%)
Recurrent middle ear infection	Des (30–79%)
Abnormally shaped ears	Uneori (5–29%)
Enlarged vestibular aqueduct	Uneori (5–29%)
Fusion of middle ear ossicles	Uneori (5–29%)
Mixed hearing impairment	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Decreased testicular size	Întotdeauna
Hydronephrosis	Des (30–79%)
Narrowing of the urethra	Des (30–79%)
Ureteral obstruction	Des (30–79%)
Horseshoe kidney	Uneori (5–29%)
Lack of bladder control due to nervous system injury	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Blue outer white part of eyeball	Întotdeauna
Drooping upper eyelid	Întotdeauna
Wide-set eyes	Întotdeauna
Cross-eyed	Des (30–79%)
Abnormal cornea morphology	Uneori (5–29%)
Astigmatism	Uneori (5–29%)
Lazy eye	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Delayed gastric emptying	Întotdeauna
Feeding difficulties	Întotdeauna
Acid reflux	Foarte des (80–99%)
Feeding difficulties in infancy	Uneori (5–29%)
Pyloric stenosis	Uneori (5–29%)
Ulcerative colitis	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Chiari malformation	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Spina bifida occulta	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Întotdeauna
Short stature	Întotdeauna
Severe short stature	Foarte des (80–99%)
Growth delay	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Soft skin	Întotdeauna
Keloids	Des (30–79%)
Excessive hairiness	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Noisy breathing	Des (30–79%)
Subglottic stenosis	Des (30–79%)
Narrowing of windpipe	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Întotdeauna

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Delayed puberty	Uneori (5–29%)

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 MAP3K7 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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