Ominaisuudet

Geeniin ZFX yhdistetyt ominaisuudet

zinc finger protein X-linked

Human Phenotype Ontology yhdistää ZFX-geeniin 193 ominaisuutta elimistöjärjestelmittäin: piirteitä, joita esiintyy geenin harvinaisista sairauksista kärsivillä ihmisillä.

ZFX

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the eye

Ominaisuus	Kuinka usein sitä esiintyy
Close sighted	Aina
Involuntary, rapid, rhythmic eye movements	Aina
Visual impairment	Aina
Astigmatism	Joskus (5–29%)
Clouding of the lens of the eye	Joskus (5–29%)
Congenital nystagmus	Joskus (5–29%)
Cross-eyed	Joskus (5–29%)
Farsightedness	Joskus (5–29%)
Glaucoma	Joskus (5–29%)
Lazy eye	Joskus (5–29%)
Optic atrophy	Joskus (5–29%)
Optic nerve hypoplasia	Joskus (5–29%)
Retinal detachment	Joskus (5–29%)
Severe near sightedness	Joskus (5–29%)
Superior oblique muscle weakness	Joskus (5–29%)
Wide-set eyes	Joskus (5–29%)

Abnormality of the musculoskeletal system

Ominaisuus	Kuinka usein sitä esiintyy
Double-Jointed	Aina
Scoliosis	Aina
Low muscle tone	Usein (30–79%)
Abnormal formation of the hip	Joskus (5–29%)
Absence of some of the sacral and coccygeal bones	Joskus (5–29%)
Delayed bone maturation	Joskus (5–29%)
Displacement of one backbone compared to another	Joskus (5–29%)
Flattened vertebrae	Joskus (5–29%)
Funnel chest	Joskus (5–29%)
Irregular vertebral endplates	Joskus (5–29%)
Joint dislocation	Joskus (5–29%)
Narrow spinal canal	Joskus (5–29%)
Osteopenia	Joskus (5–29%)
Pigeon chest	Joskus (5–29%)
Spondylolysis	Joskus (5–29%)
Thoracic scoliosis	Joskus (5–29%)

Abnormality of limbs

Ominaisuus	Kuinka usein sitä esiintyy
Bunion	Joskus (5–29%)
Clubbing of fingers and toes	Joskus (5–29%)
Curvature of digit	Joskus (5–29%)
Deep palm line	Joskus (5–29%)
Finger joint hyperextensibility	Joskus (5–29%)
Finger syndactyly	Joskus (5–29%)
Front half of foot turns inward	Joskus (5–29%)
Large hands	Joskus (5–29%)
Overlapping toe	Joskus (5–29%)
Postaxial polydactyly	Joskus (5–29%)
Short foot	Joskus (5–29%)
Short toe	Joskus (5–29%)
Single transverse palmar crease	Joskus (5–29%)
Small toe	Joskus (5–29%)
Tapered finger	Joskus (5–29%)

Abnormality of the digestive system

Ominaisuus	Kuinka usein sitä esiintyy
Feeding difficulties	Aina
Inguinal hernia	Usein (30–79%)
Umbilical hernia	Usein (30–79%)
Constipation	Joskus (5–29%)
Delayed gastric emptying	Joskus (5–29%)
Hepatocellular adenoma	Joskus (5–29%)
Inflammation of the esophagus	Joskus (5–29%)
Poor suck	Joskus (5–29%)
Poor swallowing	Joskus (5–29%)
Pyloric stenosis	Joskus (5–29%)
Rectum protrudes through anus	Joskus (5–29%)
Vomiting	Joskus (5–29%)

Abnormality of the cardiovascular system

Ominaisuus	Kuinka usein sitä esiintyy
Patent ductus arteriosus	Usein (30–79%)
An opening in the wall separating the top two chambers of the heart	Joskus (5–29%)
Aortic valve has two leaflets rather than three	Joskus (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Joskus (5–29%)
Dilation of Virchow-Robin spaces	Joskus (5–29%)
High blood pressure	Joskus (5–29%)
Hole in heart wall separating two lower heart chambers	Joskus (5–29%)
Mesocardia	Joskus (5–29%)
Narrowing of aorta	Joskus (5–29%)

Abnormality of the ear

Ominaisuus	Kuinka usein sitä esiintyy
Sensorineural hearing impairment	Usein (30–79%)
Asymmetric ears	Joskus (5–29%)
Conductive deafness	Joskus (5–29%)
Cupped ear	Joskus (5–29%)
Ears rotated toward back of head	Joskus (5–29%)
Large earlobe	Joskus (5–29%)
Low-set ears	Joskus (5–29%)
Overfolded ears	Joskus (5–29%)
Thickened helices	Joskus (5–29%)

Abnormality of the integument

Ominaisuus	Kuinka usein sitä esiintyy
Excessive hair growth	Aina
Absence of part of skin at birth	Joskus (5–29%)
Deep-set nails	Joskus (5–29%)
Fair hair	Joskus (5–29%)
Fine hair	Joskus (5–29%)
Partial absent skin pigmentation	Joskus (5–29%)
Slow-growing hair	Joskus (5–29%)
Small nail	Joskus (5–29%)
Thick hair	Joskus (5–29%)

Abnormality of the endocrine system

Ominaisuus	Kuinka usein sitä esiintyy
Delayed puberty	Joskus (5–29%)
Elevated blood parathyroid hormone level	Joskus (5–29%)
Hypogonadotropic hypogonadism	Joskus (5–29%)
Parathyroid adenoma	Joskus (5–29%)
Small pituitary gland	Joskus (5–29%)
Underactive thyroid	Joskus (5–29%)

Abnormality of the genitourinary system

Ominaisuus	Kuinka usein sitä esiintyy
Hypospadias	Usein (30–79%)
Undescended testes	Usein (30–79%)
Horseshoe kidney	Joskus (5–29%)
Hydronephrosis	Joskus (5–29%)
Increased calcium level in kidney	Joskus (5–29%)
Kidney stone	Joskus (5–29%)

Abnormality of prenatal development or birth

Ominaisuus	Kuinka usein sitä esiintyy
Caesarean section	Usein (30–79%)
Premature birth	Usein (30–79%)
High levels of amniotic fluid	Joskus (5–29%)
Low levels of amniotic fluid	Joskus (5–29%)

Abnormality of blood and blood-forming tissues

Ominaisuus	Kuinka usein sitä esiintyy
Bleeding in brain	Joskus (5–29%)
Subarachnoid hemorrhage	Joskus (5–29%)
Subdural hemorrhage	Joskus (5–29%)

Constitutional symptom

Ominaisuus	Kuinka usein sitä esiintyy
Chronic pain	Joskus (5–29%)

Growth abnormality

Ominaisuus	Kuinka usein sitä esiintyy
Birth weight > 90th percentile	Joskus (5–29%)

Laboratory abnormality

Ominaisuus	Kuinka usein sitä esiintyy
High blood calcium levels	Joskus (5–29%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

Human Phenotype Ontology, julkaisu 2026-09-01: ZFX-geeniin yhdistetyt ominaisuudet ja kunkin esiintymistiheys. Lisätietoja osoitteesta hpo.jax.org.

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