Tunnused

Geeniga TBCK seotud tunnused

TBC1 domain containing kinase

Inimese fenotüübi ontoloogia seostab geeniga TBCK 143 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

TBCK

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Absent reflexes	Alati
Bilateral tonic-clonic seizure with focal onset	Alati
Delayed speech and language development	Alati
Extra-axial cerebrospinal fluid accumulation	Alati
Global developmental delay	Alati
Hyperintensity of cerebral white matter on MRI	Alati
IQ less than 20	Alati
Profound global developmental delay	Alati
Reduced brain N-acetyl aspartate level by MRS	Alati
Thin corpus callosum	Alati
Ventriculomegaly	Alati
Decreased reflex response	Väga sageli (80–99%)
Motor delay	Väga sageli (80–99%)
Abnormal periventricular white matter morphology	Sageli (30–79%)
Absent speech development	Sageli (30–79%)
Decreased compound muscle action potential amplitude	Sageli (30–79%)
Diminished deep tendon reflex	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Generalized brain degeneration	Sageli (30–79%)
Inability to walk	Sageli (30–79%)
Loss of developmental milestones	Sageli (30–79%)
Multifocal epileptiform discharges	Sageli (30–79%)
Multifocal seizures	Sageli (30–79%)
Severe global developmental delay	Sageli (30–79%)
Too much cerebrospinal fluid in the brain	Sageli (30–79%)
Underdevelopment of part of brain called corpus callosum	Sageli (30–79%)
Cognitive impairment	Mõnikord (5–29%)
Degeneration of cerebellum	Mõnikord (5–29%)
EEG with generalized epileptiform discharges	Mõnikord (5–29%)
Partial agenesis of the corpus callosum	Mõnikord (5–29%)
Periventricular leukomalacia	Mõnikord (5–29%)
Autism	Harva (1–4%)
Bipolar disorder	Harva (1–4%)
Brain degeneration	Pole registreeritud
Cerebellar vermis hypoplasia	Pole registreeritud
Degeneration of cerebrum	Pole registreeritud
Dysplastic corpus callosum	Pole registreeritud
Encephalopathy	Pole registreeritud
Poor speech	Pole registreeritud
Small basal ganglia	Pole registreeritud
Small cerebellum	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Enlarged cisterna magna	Alati
Broad head shape	Väga sageli (80–99%)
Exaggerated cupid's bow	Väga sageli (80–99%)
Narrow forehead	Väga sageli (80–99%)
Abnormal facial shape	Sageli (30–79%)
Abnormally large tongue	Sageli (30–79%)
Big calvaria	Sageli (30–79%)
Coarse facial features	Sageli (30–79%)
Gum enlargement	Sageli (30–79%)
High palate	Sageli (30–79%)
Highly arched eyebrow	Sageli (30–79%)
Nasal tip, upturned	Sageli (30–79%)
Prominent nasal bridge	Sageli (30–79%)
Tented mouth	Sageli (30–79%)
Big lower jaw	Mõnikord (5–29%)
Broad forehead	Mõnikord (5–29%)
Bulbous nose	Mõnikord (5–29%)
Eye folds	Mõnikord (5–29%)
Full lips	Mõnikord (5–29%)
High, narrow palate	Mõnikord (5–29%)
Little lower jaw	Mõnikord (5–29%)
Long eyelashes	Mõnikord (5–29%)
Long philtrum	Mõnikord (5–29%)
Monobrow	Mõnikord (5–29%)
Myopathic facies	Mõnikord (5–29%)
Open mouth	Mõnikord (5–29%)
Prominent metopic ridge	Mõnikord (5–29%)
Short neck	Mõnikord (5–29%)
Sloping forehead	Mõnikord (5–29%)
Tall shaped head	Mõnikord (5–29%)
Thick eyebrow	Mõnikord (5–29%)
Upward slanting of the opening between the eyelids	Mõnikord (5–29%)
Wide nasal bridge	Mõnikord (5–29%)
Abnormally small head	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Axial muscle weakness	Alati
Delayed bone maturation	Alati
Distal muscle wasting	Alati
Funnel chest	Alati
Generalized decreased muscle tone	Alati
Increased variability in muscle fiber diameter	Alati
Low muscle tone	Alati
Severely decreased muscle tone	Alati
EMG: chronic denervation signs	Väga sageli (80–99%)
Low muscle tone, in neonatal onset	Väga sageli (80–99%)
Progressive muscle weakness	Väga sageli (80–99%)
EMG: myokymic discharges	Sageli (30–79%)
Joint contracture	Sageli (30–79%)
Muscle degeneration	Sageli (30–79%)
Osteoporosis	Sageli (30–79%)
11 pairs of ribs	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Bulging eye	Alati
Cerebral visual impairment	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Wide-set eyes	Sageli (30–79%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Corneal opacity	Mõnikord (5–29%)
Deeply set eye	Mõnikord (5–29%)
Drooping upper eyelid	Mõnikord (5–29%)
Inward turning cross eyed	Mõnikord (5–29%)
Abnormal involuntary eye movements	Harva (1–4%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Acromelia	Alati
Limb muscle weakness	Alati
Overlapping toe	Alati
Single transverse palmar crease	Alati
Limb undergrowth	Sageli (30–79%)
Tapered finger	Sageli (30–79%)
Broad finger	Mõnikord (5–29%)
Broad toe	Mõnikord (5–29%)
Curvature of digit	Harva (1–4%)
Webbed 2nd and 3rd toes	Harva (1–4%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Mildly elevated creatine kinase	Alati
Abnormal circulating lipid concentration	Sageli (30–79%)
Elevated serum cholesterol	Sageli (30–79%)
Increased plasma triglycerides	Sageli (30–79%)
Intermittent hypothermia	Sageli (30–79%)
Hypothermia	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Fetal pyelectasis	Mõnikord (5–29%)
High levels of amniotic fluid	Mõnikord (5–29%)
Less than 10 fetal movements in 12 hours	Mõnikord (5–29%)
Low levels of amniotic fluid	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Alati
Gastrostomy tube feeding in infancy	Alati
Tube feeding	Sageli (30–79%)
Gap between large left and right abdominal muscles	Harva (1–4%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Underactive thyroid	Sageli (30–79%)
Central adrenal insufficiency	Harva (1–4%)
Decreased response to growth hormone stimulation test	Harva (1–4%)
Overactive thyroid	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Hole in heart wall separating two lower heart chambers	Mõnikord (5–29%)
Right aortic arch	Mõnikord (5–29%)
Narrowing of pulmonic valve	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Low-set ears	Mõnikord (5–29%)
Hearing impairment	Harva (1–4%)
Sensorineural hearing impairment	Harva (1–4%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Undescended testes	Sageli (30–79%)
Lack of bladder control due to nervous system injury	Harva (1–4%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Asthma	Harva (1–4%)
Eczema	Harva (1–4%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Excessive hairiness	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Respiratory function loss	Sageli (30–79%)

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 TBCK seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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