Požymiai

Su ZFX susiję požymiai

zinc finger protein X-linked

Žmogaus fenotipo ontologija sieja 193 požymių su ZFX, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

ZFX

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Big calvaria	Visada
Abnormally large tongue	Dažnai (30–79%)
Broad eyebrow	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Long philtrum	Dažnai (30–79%)
Monobrow	Dažnai (30–79%)
Pointed chin	Dažnai (30–79%)
Smooth philtrum	Dažnai (30–79%)
Thin red part of the upper lip	Dažnai (30–79%)
Big lower jaw	Kartais (5–29%)
Broad forehead	Kartais (5–29%)
Broad nasal tip	Kartais (5–29%)
Broad neck	Kartais (5–29%)
Broad nostril	Kartais (5–29%)
Broad opening between the eyelids	Kartais (5–29%)
Bulbous nose	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Coarse facial features	Kartais (5–29%)
Corners of eye widely separated	Kartais (5–29%)
Decreased size of tooth	Kartais (5–29%)
Delayed closure of the soft spot on the skull	Kartais (5–29%)
Delayed eruption of teeth	Kartais (5–29%)
Delayed loss of baby teeth	Kartais (5–29%)
Dental crowding	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Dry eye syndrome	Kartais (5–29%)
Everted eyelid	Kartais (5–29%)
Extra teeth	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
Fullness around the eyes	Kartais (5–29%)
High frontal hairline	Kartais (5–29%)
High palate	Kartais (5–29%)
Highly arched eyebrow	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Long face	Kartais (5–29%)
Long nose	Kartais (5–29%)
Low frontal hairline	Kartais (5–29%)
Low hairline at back of neck	Kartais (5–29%)
Low hanging columella	Kartais (5–29%)
Midface retrusion	Kartais (5–29%)
Narrow forehead	Kartais (5–29%)
Narrow opening between the eyelids	Kartais (5–29%)
Narrow palate	Kartais (5–29%)
Pierre-Robin sequence	Kartais (5–29%)
Prominent eyelashes	Kartais (5–29%)
Prominent forehead	Kartais (5–29%)
Protruding tongue	Kartais (5–29%)
Receding chin	Kartais (5–29%)
Relatively large head	Kartais (5–29%)
Skin tag in front of the ear	Kartais (5–29%)
Tall shaped head	Kartais (5–29%)
Thick eyebrow	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)
Wide mouth	Kartais (5–29%)
Wider-than-typical soft spot of skull	Kartais (5–29%)
Zygomatic flattening	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Epilepsy	Visada
Intellectual disability	Visada
Delayed ability to walk	Labai dažnai (80–99%)
Delayed fine motor development	Labai dažnai (80–99%)
Delayed speech and language development	Labai dažnai (80–99%)
Attention deficit	Dažnai (30–79%)
Autism	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Intellectual disability, mild	Dažnai (30–79%)
Aggressive behavior	Kartais (5–29%)
Agitation	Kartais (5–29%)
Anxiety	Kartais (5–29%)
Boiling mad	Kartais (5–29%)
Brief seizures with staring spells	Kartais (5–29%)
Choroid plexus cyst	Kartais (5–29%)
Degeneration of cerebrum	Kartais (5–29%)
Delayed CNS myelination	Kartais (5–29%)
Depression	Kartais (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Kartais (5–29%)
Increased appetite	Kartais (5–29%)
Involuntary movements	Kartais (5–29%)
IQ between 34 and 49	Kartais (5–29%)
Low frustration tolerance	Kartais (5–29%)
Obstructive sleep apnea	Kartais (5–29%)
Periventricular leukomalacia	Kartais (5–29%)
Snoring	Kartais (5–29%)
Teeth grinding	Kartais (5–29%)
Underdevelopment of part of brain called corpus callosum	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Close sighted	Visada
Involuntary, rapid, rhythmic eye movements	Visada
Visual impairment	Visada
Astigmatism	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Congenital nystagmus	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Farsightedness	Kartais (5–29%)
Glaucoma	Kartais (5–29%)
Lazy eye	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Optic nerve hypoplasia	Kartais (5–29%)
Retinal detachment	Kartais (5–29%)
Severe near sightedness	Kartais (5–29%)
Superior oblique muscle weakness	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Double-Jointed	Visada
Scoliosis	Visada
Low muscle tone	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Absence of some of the sacral and coccygeal bones	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)
Displacement of one backbone compared to another	Kartais (5–29%)
Flattened vertebrae	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Irregular vertebral endplates	Kartais (5–29%)
Joint dislocation	Kartais (5–29%)
Narrow spinal canal	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Pigeon chest	Kartais (5–29%)
Spondylolysis	Kartais (5–29%)
Thoracic scoliosis	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Bunion	Kartais (5–29%)
Clubbing of fingers and toes	Kartais (5–29%)
Curvature of digit	Kartais (5–29%)
Deep palm line	Kartais (5–29%)
Finger joint hyperextensibility	Kartais (5–29%)
Finger syndactyly	Kartais (5–29%)
Front half of foot turns inward	Kartais (5–29%)
Large hands	Kartais (5–29%)
Overlapping toe	Kartais (5–29%)
Postaxial polydactyly	Kartais (5–29%)
Short foot	Kartais (5–29%)
Short toe	Kartais (5–29%)
Single transverse palmar crease	Kartais (5–29%)
Small toe	Kartais (5–29%)
Tapered finger	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Visada
Inguinal hernia	Dažnai (30–79%)
Umbilical hernia	Dažnai (30–79%)
Constipation	Kartais (5–29%)
Delayed gastric emptying	Kartais (5–29%)
Hepatocellular adenoma	Kartais (5–29%)
Inflammation of the esophagus	Kartais (5–29%)
Poor suck	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)
Pyloric stenosis	Kartais (5–29%)
Rectum protrudes through anus	Kartais (5–29%)
Vomiting	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Patent ductus arteriosus	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Aortic valve has two leaflets rather than three	Kartais (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Kartais (5–29%)
Dilation of Virchow-Robin spaces	Kartais (5–29%)
High blood pressure	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Mesocardia	Kartais (5–29%)
Narrowing of aorta	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Dažnai (30–79%)
Asymmetric ears	Kartais (5–29%)
Conductive deafness	Kartais (5–29%)
Cupped ear	Kartais (5–29%)
Ears rotated toward back of head	Kartais (5–29%)
Large earlobe	Kartais (5–29%)
Low-set ears	Kartais (5–29%)
Overfolded ears	Kartais (5–29%)
Thickened helices	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hair growth	Visada
Absence of part of skin at birth	Kartais (5–29%)
Deep-set nails	Kartais (5–29%)
Fair hair	Kartais (5–29%)
Fine hair	Kartais (5–29%)
Partial absent skin pigmentation	Kartais (5–29%)
Slow-growing hair	Kartais (5–29%)
Small nail	Kartais (5–29%)
Thick hair	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Delayed puberty	Kartais (5–29%)
Elevated blood parathyroid hormone level	Kartais (5–29%)
Hypogonadotropic hypogonadism	Kartais (5–29%)
Parathyroid adenoma	Kartais (5–29%)
Small pituitary gland	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Hypospadias	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Horseshoe kidney	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Increased calcium level in kidney	Kartais (5–29%)
Kidney stone	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Caesarean section	Dažnai (30–79%)
Premature birth	Dažnai (30–79%)
High levels of amniotic fluid	Kartais (5–29%)
Low levels of amniotic fluid	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bleeding in brain	Kartais (5–29%)
Subarachnoid hemorrhage	Kartais (5–29%)
Subdural hemorrhage	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Chronic pain	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Birth weight > 90th percentile	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High blood calcium levels	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 ZFX susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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