Tunnused

Geeniga MAP3K7 seotud tunnused

mitogen-activated protein kinase kinase kinase 7

Inimese fenotüübi ontoloogia seostab geeniga MAP3K7 151 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of limbs

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

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Double-Jointed	Alati
Elbow contracture	Alati
Fused neck	Alati
Herniated disk	Alati
Low muscle tone	Alati
Abnormal skeletal development	Väga sageli (80–99%)
Abnormal vertebral body morphology	Väga sageli (80–99%)
Scoliosis	Väga sageli (80–99%)
Cone-shaped end part of bone	Sageli (30–79%)
Delayed bone maturation	Sageli (30–79%)
Congenital diaphragmatic hernia	Mõnikord (5–29%)
Decreased muscle mass	Mõnikord (5–29%)
High shoulder blade	Mõnikord (5–29%)
Poorly developed skeletal musculature	Mõnikord (5–29%)
Funnel chest	Harva (1–4%)
Permanent flexion of the finger or toe	Pole registreeritud
Pseudoepiphyses	Pole registreeritud
Rib fusion	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Dysplastic tricuspid valve	Alati
Muscular ventricular septal defect	Alati
Patent foramen ovale	Alati
Underdeveloped aortic arch	Alati
Mitral regurgitation	Väga sageli (80–99%)
Mitral valve prolapse	Väga sageli (80–99%)
Abnormality of the heart	Sageli (30–79%)
An opening in the wall separating the top two chambers of the heart	Mõnikord (5–29%)
Hole in heart wall separating two lower heart chambers	Mõnikord (5–29%)
Aortic valve has two leaflets rather than three	Pole registreeritud
Narrowing of pulmonic valve	Pole registreeritud
Patent ductus arteriosus	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Congenital sensorineural hearing impairment	Alati
Low-set ears	Alati
Conductive deafness	Väga sageli (80–99%)
Ears rotated toward back of head	Väga sageli (80–99%)
Hearing impairment	Väga sageli (80–99%)
Sensorineural hearing impairment	Väga sageli (80–99%)
Recurrent middle ear infection	Sageli (30–79%)
Abnormally shaped ears	Mõnikord (5–29%)
Enlarged vestibular aqueduct	Mõnikord (5–29%)
Fusion of middle ear ossicles	Mõnikord (5–29%)
Mixed hearing impairment	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Decreased testicular size	Alati
Hydronephrosis	Sageli (30–79%)
Narrowing of the urethra	Sageli (30–79%)
Ureteral obstruction	Sageli (30–79%)
Horseshoe kidney	Mõnikord (5–29%)
Lack of bladder control due to nervous system injury	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)
Vesicoureteral reflux	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Blue outer white part of eyeball	Alati
Drooping upper eyelid	Alati
Wide-set eyes	Alati
Cross-eyed	Sageli (30–79%)
Abnormal cornea morphology	Mõnikord (5–29%)
Astigmatism	Mõnikord (5–29%)
Lazy eye	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Delayed gastric emptying	Alati
Feeding difficulties	Alati
Acid reflux	Väga sageli (80–99%)
Feeding difficulties in infancy	Mõnikord (5–29%)
Pyloric stenosis	Mõnikord (5–29%)
Ulcerative colitis	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Chiari malformation	Mõnikord (5–29%)
Intellectual disability	Mõnikord (5–29%)
Intellectual disability, mild	Mõnikord (5–29%)
Spina bifida occulta	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Alati
Short stature	Alati
Severe short stature	Väga sageli (80–99%)
Growth delay	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Soft skin	Alati
Keloids	Sageli (30–79%)
Excessive hairiness	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Noisy breathing	Sageli (30–79%)
Subglottic stenosis	Sageli (30–79%)
Narrowing of windpipe	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Less than 10 fetal movements in 12 hours	Alati

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Delayed puberty	Mõnikord (5–29%)

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 MAP3K7 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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