Tunnused

Geeniga FKTN seotud tunnused

fukutin

Inimese fenotüübi ontoloogia seostab geeniga FKTN 166 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

FKTN

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormally small eyeball	Alati
Corneal opacity	Alati
Retinal dysplasia	Alati
Breakdown of light-sensitive cells in back of eye	Väga sageli (80–99%)
Chorioretinal dysplasia	Väga sageli (80–99%)
Close sighted	Väga sageli (80–99%)
Cross-eyed	Väga sageli (80–99%)
Glaucoma	Väga sageli (80–99%)
Optic atrophy	Väga sageli (80–99%)
Optic nerve issue	Väga sageli (80–99%)
Retinal detachment	Väga sageli (80–99%)
Visual impairment	Väga sageli (80–99%)
Absence of eyeballs	Sageli (30–79%)
Clouding of the lens of the eye	Sageli (30–79%)
Cat eye	Mõnikord (5–29%)
Cornea of eye less than 10mm in diameter	Mõnikord (5–29%)
Abnormality of eye movement	Pole registreeritud
Blindness	Pole registreeritud
Enlarged cornea	Pole registreeritud
Enlarged eyeball	Pole registreeritud
Farsightedness	Pole registreeritud
Notched pupil	Pole registreeritud
Optic nerve hypoplasia	Pole registreeritud
Peters anomaly	Pole registreeritud
Retinal atrophy	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Dandy-Walker malformation	Alati
Expressionless face	Alati
Meningoencephalocele	Alati
Asymmetry of the posterior head	Väga sageli (80–99%)
Abnormally small head	Sageli (30–79%)
Big calvaria	Sageli (30–79%)
Broad head shape	Sageli (30–79%)
Facial diplegia	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Sloping forehead	Sageli (30–79%)
Bifid uvula	Mõnikord (5–29%)
Cleft palate	Mõnikord (5–29%)
Long, narrow head	Mõnikord (5–29%)
Submucous cleft hard palate	Mõnikord (5–29%)
Brain tissue sticks out through back of skull	Pole registreeritud
Cleft upper lip	Pole registreeritud
Encephalocele	Pole registreeritud
Posterior fossa cyst	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Increased left ventricular end-diastolic volume	Alati
Reduced left ventricular ejection fraction	Alati
Stretched and thinned heart muscle	Alati
Left ventricular systolic dysfunction	Väga sageli (80–99%)
Abnormal heart rate	Sageli (30–79%)
Cardiac failure	Sageli (30–79%)
An opening in the wall separating the top two chambers of the heart	Pole registreeritud
Myocardial fibrosis	Pole registreeritud
Narrowing of pulmonic valve	Pole registreeritud
Transposition of the great arteries	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Metatarsus valgus	Väga sageli (80–99%)
Increased size of calf muscles	Sageli (30–79%)
Permanent flexion of the finger	Sageli (30–79%)
Peroneal muscle weakness	Sageli (30–79%)
Scapular muscle atrophy	Sageli (30–79%)
Shortening of the achilles tendon	Sageli (30–79%)
Wasting of limb-girdle muscle	Sageli (30–79%)
Club feet	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Low-set ears	Sageli (30–79%)
Ears rotated toward back of head	Mõnikord (5–29%)
Prominent ear	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)
Absent ear canal	Pole registreeritud
Small ears	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated blood creatine phosphokinase	Alati
Abnormal circulating aldolase concentration	Väga sageli (80–99%)
Abnormal circulating lactate dehydrogenase concentration	Väga sageli (80–99%)
Abnormal levels of creatine kinase in blood	Väga sageli (80–99%)
Fluid retention	Sageli (30–79%)
Mildly elevated creatine kinase	Sageli (30–79%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Undescended testes	Alati
Underdeveloped penis	Sageli (30–79%)
Renal dysplasia	Pole registreeritud
Small male external genitalia	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Exertional breathlessness	Sageli (30–79%)
Orthopnea	Sageli (30–79%)
Respiratory function loss	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties in infancy	Alati
Absent anus	Pole registreeritud

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Abnormality of the voice	Sageli (30–79%)
Weak cry	Sageli (30–79%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Fatigue	Sageli (30–79%)
Muscle ache	Sageli (30–79%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Thromboembolic stroke	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Prenatal growth deficiency	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 FKTN seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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