Požymiai

Su FKTN susiję požymiai

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Žmogaus fenotipo ontologija sieja 166 požymių su FKTN, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

FKTN

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal cerebral white matter morphology	Visada
Absent speech development	Visada
Agyria	Visada
Epilepsy	Visada
Global developmental delay	Visada
Motor delay	Visada
Small brainstem	Visada
Small cerebellum	Visada
Type II lissencephaly	Visada
Abnormal cerebellar vermis morphology	Labai dažnai (80–99%)
Abnormal cortical gyration	Labai dažnai (80–99%)
Abnormal gait	Labai dažnai (80–99%)
Abnormal speech pattern	Labai dažnai (80–99%)
Abnormality of neuronal migration	Labai dažnai (80–99%)
Absent reflexes	Labai dažnai (80–99%)
Cognitive impairment	Labai dažnai (80–99%)
Decreased reflex response	Labai dažnai (80–99%)
Delayed speech and language development	Labai dažnai (80–99%)
EEG abnormality	Labai dažnai (80–99%)
Fewer and broader ridges in brain	Labai dažnai (80–99%)
Fewer or absent grooves in brain	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Intellectual disability, severe	Labai dažnai (80–99%)
More grooves in brain	Labai dažnai (80–99%)
Specific learning disability	Labai dažnai (80–99%)
Too much cerebrospinal fluid in the brain	Labai dažnai (80–99%)
Ventriculomegaly	Labai dažnai (80–99%)
Abnormality of movement	Dažnai (30–79%)
Absent septum pellucidum	Dažnai (30–79%)
Agenesis of corpus callosum	Dažnai (30–79%)
Degeneration of cerebellum	Dažnai (30–79%)
Kinked brainstem	Dažnai (30–79%)
Toe walking	Dažnai (30–79%)
Absent/small cerebellum	Kartais (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Kartais (5–29%)
Cerebellar cyst	Kartais (5–29%)
Exaggerated startle response	Kartais (5–29%)
Holoprosencephaly	Kartais (5–29%)
Meningocele	Kartais (5–29%)
Paralysis or weakness of one side of body	Kartais (5–29%)
Gray matter heterotopia	Retai (1–4 %)
Cerebellar dysplasia	Neužfiksuota
Excessive daytime sleepiness	Neužfiksuota
Hypoplasia of the pyramidal tract	Neužfiksuota
IQ less than 20	Neužfiksuota
Underdevelopment of part of brain called corpus callosum	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Generalized muscle weakness	Visada
Hypoglycosylation of alpha-dystroglycan	Visada
Low muscle tone	Visada
Low muscle tone, in neonatal onset	Visada
Muscular dystrophy	Visada
Proximal neurogenic muscle weakness	Visada
Absent/small skeletal muscles	Labai dažnai (80–99%)
EMG abnormality	Labai dažnai (80–99%)
Flexed joint that cannot be straightened	Labai dažnai (80–99%)
Muscle degeneration	Labai dažnai (80–99%)
Muscle tissue disease	Labai dažnai (80–99%)
Muscle weakness	Labai dažnai (80–99%)
EMG: myopathic abnormalities	Dažnai (30–79%)
Fatty replacement of skeletal muscle	Dažnai (30–79%)
Frequent falls	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Generalized decreased muscle tone	Dažnai (30–79%)
Gowers sign	Dažnai (30–79%)
Muscle spasm	Dažnai (30–79%)
Progressive muscle weakness	Dažnai (30–79%)
Reduced muscle fiber alpha dystroglycan	Dažnai (30–79%)
Spasticity and rigidity of muscles	Dažnai (30–79%)
Wasting of muscles near the body	Dažnai (30–79%)
Kyphoscoliosis	Kartais (5–29%)
Loss of fat tissue in localized area	Kartais (5–29%)
Congenital contracture	Neužfiksuota
Increased skeletal muscle cells	Neužfiksuota
Increased variability in muscle fiber diameter	Neužfiksuota
Prominent swayback	Neužfiksuota
Reduced spine movement	Neužfiksuota
Scoliosis	Neužfiksuota
Severely decreased muscle tone	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormally small eyeball	Visada
Corneal opacity	Visada
Retinal dysplasia	Visada
Breakdown of light-sensitive cells in back of eye	Labai dažnai (80–99%)
Chorioretinal dysplasia	Labai dažnai (80–99%)
Close sighted	Labai dažnai (80–99%)
Cross-eyed	Labai dažnai (80–99%)
Glaucoma	Labai dažnai (80–99%)
Optic atrophy	Labai dažnai (80–99%)
Optic nerve issue	Labai dažnai (80–99%)
Retinal detachment	Labai dažnai (80–99%)
Visual impairment	Labai dažnai (80–99%)
Absence of eyeballs	Dažnai (30–79%)
Clouding of the lens of the eye	Dažnai (30–79%)
Cat eye	Kartais (5–29%)
Cornea of eye less than 10mm in diameter	Kartais (5–29%)
Abnormality of eye movement	Neužfiksuota
Blindness	Neužfiksuota
Enlarged cornea	Neužfiksuota
Enlarged eyeball	Neužfiksuota
Farsightedness	Neužfiksuota
Notched pupil	Neužfiksuota
Optic nerve hypoplasia	Neužfiksuota
Peters anomaly	Neužfiksuota
Retinal atrophy	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Dandy-Walker malformation	Visada
Expressionless face	Visada
Meningoencephalocele	Visada
Asymmetry of the posterior head	Labai dažnai (80–99%)
Abnormally small head	Dažnai (30–79%)
Big calvaria	Dažnai (30–79%)
Broad head shape	Dažnai (30–79%)
Facial diplegia	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Sloping forehead	Dažnai (30–79%)
Bifid uvula	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Long, narrow head	Kartais (5–29%)
Submucous cleft hard palate	Kartais (5–29%)
Brain tissue sticks out through back of skull	Neužfiksuota
Cleft upper lip	Neužfiksuota
Encephalocele	Neužfiksuota
Posterior fossa cyst	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Increased left ventricular end-diastolic volume	Visada
Reduced left ventricular ejection fraction	Visada
Stretched and thinned heart muscle	Visada
Left ventricular systolic dysfunction	Labai dažnai (80–99%)
Abnormal heart rate	Dažnai (30–79%)
Cardiac failure	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Neužfiksuota
Myocardial fibrosis	Neužfiksuota
Narrowing of pulmonic valve	Neužfiksuota
Transposition of the great arteries	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Metatarsus valgus	Labai dažnai (80–99%)
Increased size of calf muscles	Dažnai (30–79%)
Permanent flexion of the finger	Dažnai (30–79%)
Peroneal muscle weakness	Dažnai (30–79%)
Scapular muscle atrophy	Dažnai (30–79%)
Shortening of the achilles tendon	Dažnai (30–79%)
Wasting of limb-girdle muscle	Dažnai (30–79%)
Club feet	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Low-set ears	Dažnai (30–79%)
Ears rotated toward back of head	Kartais (5–29%)
Prominent ear	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)
Absent ear canal	Neužfiksuota
Small ears	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Elevated blood creatine phosphokinase	Visada
Abnormal circulating aldolase concentration	Labai dažnai (80–99%)
Abnormal circulating lactate dehydrogenase concentration	Labai dažnai (80–99%)
Abnormal levels of creatine kinase in blood	Labai dažnai (80–99%)
Fluid retention	Dažnai (30–79%)
Mildly elevated creatine kinase	Dažnai (30–79%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Undescended testes	Visada
Underdeveloped penis	Dažnai (30–79%)
Renal dysplasia	Neužfiksuota
Small male external genitalia	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Exertional breathlessness	Dažnai (30–79%)
Orthopnea	Dažnai (30–79%)
Respiratory function loss	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties in infancy	Visada
Absent anus	Neužfiksuota

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Abnormality of the voice	Dažnai (30–79%)
Weak cry	Dažnai (30–79%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	Dažnai (30–79%)
Muscle ache	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Thromboembolic stroke	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Prenatal growth deficiency	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.

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Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su FKTN susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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