Požymiai

Su NFIX susiję požymiai

nuclear factor I X

Žmogaus fenotipo ontologija sieja 196 požymių su NFIX, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

NFIX

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Anterior position of the premaxilla	Visada
Big calvaria	Visada
High forehead	Visada
Abnormal facial shape	Labai dažnai (80–99%)
Abnormally small head	Labai dažnai (80–99%)
Downward slanting of the opening between the eyelids	Labai dažnai (80–99%)
Long face	Labai dažnai (80–99%)
Midface retrusion	Labai dažnai (80–99%)
Narrow face	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Prominent forehead	Labai dažnai (80–99%)
Receding chin	Labai dažnai (80–99%)
Big lower jaw	Dažnai (30–79%)
Broad forehead	Dažnai (30–79%)
Corners of eye widely separated	Dažnai (30–79%)
Decreased size of tooth	Dažnai (30–79%)
Depressed nasal bridge	Dažnai (30–79%)
Drooling	Dažnai (30–79%)
Drooping lower lip	Dažnai (30–79%)
Early eruption of teeth	Dažnai (30–79%)
Extra bones within cranial sutures	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Frontal bossing	Dažnai (30–79%)
Full lips	Dažnai (30–79%)
Gum enlargement	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Highly arched eyebrow	Dažnai (30–79%)
Irregular teeth	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Long, narrow head	Dažnai (30–79%)
Low hairline at back of neck	Dažnai (30–79%)
Narrow mouth	Dažnai (30–79%)
Open mouth	Dažnai (30–79%)
Outward turned lips	Dažnai (30–79%)
Oval face	Dažnai (30–79%)
Prominent back of the head	Dažnai (30–79%)
Prominent nose	Dažnai (30–79%)
Protruding tongue	Dažnai (30–79%)
Recurrent colds	Dažnai (30–79%)
Short nose	Dažnai (30–79%)
Short philtrum	Dažnai (30–79%)
Small retruded chin	Dažnai (30–79%)
Triangular face	Dažnai (30–79%)
Asymmetry of the posterior head	Kartais (5–29%)
Blockage of the rear opening of the nasal cavity	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Deformity of the skull	Kartais (5–29%)
Facial asymmetry	Kartais (5–29%)
Narrowing of the rear opening of the nasal cavity	Kartais (5–29%)
Pointed chin	Kartais (5–29%)
Scaphocephaly	Kartais (5–29%)
Sloping forehead	Kartais (5–29%)
Underdeveloped tissue around nostril	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)
Decreased depth of eye sockets	Neužfiksuota
Monobrow	Neužfiksuota
Retraction of the tongue	Neužfiksuota
Short mandibular rami	Neužfiksuota
Thick eyebrow	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Anxiety	Visada
Delayed speech and language development	Visada
Global developmental delay	Visada
Intellectual disability	Visada
IQ between 34 and 49	Visada
Absent septum pellucidum	Dažnai (30–79%)
Absent speech development	Dažnai (30–79%)
Autism spectrum disorder	Dažnai (30–79%)
Brisk reflexes	Dažnai (30–79%)
Delayed ability to walk	Dažnai (30–79%)
Fewer and broader ridges in brain	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Obstructive sleep apnea	Dažnai (30–79%)
Too much cerebrospinal fluid in the brain	Dažnai (30–79%)
Underdevelopment of part of brain called corpus callosum	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Cervical cord compression	Kartais (5–29%)
Degeneration of cerebrum	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Episodic ataxia	Kartais (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Kartais (5–29%)
Intellectual disability, mild	Kartais (5–29%)
Intellectual disability, severe	Kartais (5–29%)
Irritability	Kartais (5–29%)
Lateral ventricle dilatation	Kartais (5–29%)
Migraine	Kartais (5–29%)
More active than typical	Kartais (5–29%)
Self-injurious behavior	Kartais (5–29%)
Small brainstem	Kartais (5–29%)
Small cerebellum	Kartais (5–29%)
Agenesis of corpus callosum	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Advanced bone age	Labai dažnai (80–99%)
Double-Jointed	Labai dažnai (80–99%)
Low muscle tone	Labai dažnai (80–99%)
Slender long bone	Labai dažnai (80–99%)
Abnormal formation of the hip	Dažnai (30–79%)
Atlantoaxial dislocation	Dažnai (30–79%)
Decreased hip abduction	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Hunched back	Dažnai (30–79%)
Increased susceptibility to fractures	Dažnai (30–79%)
Kyphoscoliosis	Dažnai (30–79%)
Low muscle tone in trunk	Dažnai (30–79%)
Low muscle tone, in neonatal onset	Dažnai (30–79%)
Low solidness and mass of the bones	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Thoracic kyphosis	Dažnai (30–79%)
Thoracic scoliosis	Dažnai (30–79%)
Osteoporosis	Kartais (5–29%)
Recurrent fractures	Kartais (5–29%)
Spasticity and rigidity of muscles	Kartais (5–29%)
Hypoplasia of the odontoid process	Neužfiksuota
Large sternal ossification centers	Neužfiksuota
Short sternum	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Bulging eye	Visada
Blue outer white part of eyeball	Labai dažnai (80–99%)
Astigmatism	Dažnai (30–79%)
Close sighted	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Farsightedness	Dažnai (30–79%)
Optic nerve hypoplasia	Dažnai (30–79%)
Severe near sightedness	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Deeply set eye	Kartais (5–29%)
Glaucoma	Kartais (5–29%)
Horizontal nystagmus	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Lazy eye	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Optic disc hypoplasia	Kartais (5–29%)
Optic disc pallor	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Bowing of the long bones	Labai dažnai (80–99%)
Bunion	Dažnai (30–79%)
Coxa valga	Dažnai (30–79%)
Coxa vara	Dažnai (30–79%)
Curvature of little finger	Dažnai (30–79%)
Long fingers	Dažnai (30–79%)
Prominent fingertip pads	Dažnai (30–79%)
Slender finger	Dažnai (30–79%)
Curvature of digit	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Partial hip dislocation	Kartais (5–29%)
Bullet-shaped middle phalanges of the hand	Neužfiksuota
Short outermost finger bone	Neužfiksuota
Wide outermost end of long bone	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Cutis marmorata	Dažnai (30–79%)
Dysplastic aortic valve	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Extra heart beat	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Increased blood pressure in blood vessels of lungs	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
High blood pressure	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Dažnai (30–79%)
Feeding difficulties in infancy	Dažnai (30–79%)
Acid reflux	Kartais (5–29%)
Anteriorly placed anus	Kartais (5–29%)
Constipation	Kartais (5–29%)
Episodic vomiting	Kartais (5–29%)
Pyloric stenosis	Kartais (5–29%)
Umbilical hernia	Kartais (5–29%)
Omphalocele	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Bilateral conductive hearing impairment	Dažnai (30–79%)
Cholesteatoma	Dažnai (30–79%)
Conductive deafness	Dažnai (30–79%)
Hearing impairment	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)
Overfolded ears	Dažnai (30–79%)
Ears rotated toward back of head	Kartais (5–29%)
Small ears	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Decreased body weight	Visada
General overgrowth	Visada
Faltering weight	Labai dažnai (80–99%)
Prenatal growth deficiency	Labai dažnai (80–99%)
Growth delay	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Tall stature	Dažnai (30–79%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hair growth	Labai dažnai (80–99%)
Thin skin	Labai dažnai (80–99%)
Beauty mark	Dažnai (30–79%)
Brittle hair	Dažnai (30–79%)
Excessive hairiness over body	Dažnai (30–79%)
Sparse hair	Dažnai (30–79%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Obstructive lung disease	Labai dažnai (80–99%)
Noisy breathing	Dažnai (30–79%)
Softening of voice box tissue	Dažnai (30–79%)
Apnea	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Bilateral cryptorchidism	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Unilateral cryptorchidism	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Aspiration pneumonia	Dažnai (30–79%)
Recurrent aspiration pneumonia	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bruising susceptibility	Dažnai (30–79%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Inverted nipples	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Early onset of 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 NFIX susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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