Požymiai

Su TBCK susiję požymiai

TBC1 domain containing kinase

Žmogaus fenotipo ontologija sieja 143 požymių su TBCK, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

TBCK

Abnormality of the nervous system

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

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Enlarged cisterna magna	Visada
Broad head shape	Labai dažnai (80–99%)
Exaggerated cupid's bow	Labai dažnai (80–99%)
Narrow forehead	Labai dažnai (80–99%)
Abnormal facial shape	Dažnai (30–79%)
Abnormally large tongue	Dažnai (30–79%)
Big calvaria	Dažnai (30–79%)
Coarse facial features	Dažnai (30–79%)
Gum enlargement	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Highly arched eyebrow	Dažnai (30–79%)
Nasal tip, upturned	Dažnai (30–79%)
Prominent nasal bridge	Dažnai (30–79%)
Tented mouth	Dažnai (30–79%)
Big lower jaw	Kartais (5–29%)
Broad forehead	Kartais (5–29%)
Bulbous nose	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Full lips	Kartais (5–29%)
High, narrow palate	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Long eyelashes	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Monobrow	Kartais (5–29%)
Myopathic facies	Kartais (5–29%)
Open mouth	Kartais (5–29%)
Prominent metopic ridge	Kartais (5–29%)
Short neck	Kartais (5–29%)
Sloping forehead	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 nasal bridge	Kartais (5–29%)
Abnormally small head	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Axial muscle weakness	Visada
Delayed bone maturation	Visada
Distal muscle wasting	Visada
Funnel chest	Visada
Generalized decreased muscle tone	Visada
Increased variability in muscle fiber diameter	Visada
Low muscle tone	Visada
Severely decreased muscle tone	Visada
EMG: chronic denervation signs	Labai dažnai (80–99%)
Low muscle tone, in neonatal onset	Labai dažnai (80–99%)
Progressive muscle weakness	Labai dažnai (80–99%)
EMG: myokymic discharges	Dažnai (30–79%)
Joint contracture	Dažnai (30–79%)
Muscle degeneration	Dažnai (30–79%)
Osteoporosis	Dažnai (30–79%)
11 pairs of ribs	Kartais (5–29%)
Scoliosis	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Bulging eye	Visada
Cerebral visual impairment	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Clouding of the lens of the eye	Kartais (5–29%)
Corneal opacity	Kartais (5–29%)
Deeply set eye	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Inward turning cross eyed	Kartais (5–29%)
Abnormal involuntary eye movements	Retai (1–4 %)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Acromelia	Visada
Limb muscle weakness	Visada
Overlapping toe	Visada
Single transverse palmar crease	Visada
Limb undergrowth	Dažnai (30–79%)
Tapered finger	Dažnai (30–79%)
Broad finger	Kartais (5–29%)
Broad toe	Kartais (5–29%)
Curvature of digit	Retai (1–4 %)
Webbed 2nd and 3rd toes	Retai (1–4 %)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Mildly elevated creatine kinase	Visada
Abnormal circulating lipid concentration	Dažnai (30–79%)
Elevated serum cholesterol	Dažnai (30–79%)
Increased plasma triglycerides	Dažnai (30–79%)
Intermittent hypothermia	Dažnai (30–79%)
Hypothermia	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Fetal pyelectasis	Kartais (5–29%)
High levels of amniotic fluid	Kartais (5–29%)
Less than 10 fetal movements in 12 hours	Kartais (5–29%)
Low levels of amniotic fluid	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Visada
Gastrostomy tube feeding in infancy	Visada
Tube feeding	Dažnai (30–79%)
Gap between large left and right abdominal muscles	Retai (1–4 %)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Underactive thyroid	Dažnai (30–79%)
Central adrenal insufficiency	Retai (1–4 %)
Decreased response to growth hormone stimulation test	Retai (1–4 %)
Overactive thyroid	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Right aortic arch	Kartais (5–29%)
Narrowing of pulmonic valve	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Low-set ears	Kartais (5–29%)
Hearing impairment	Retai (1–4 %)
Sensorineural hearing impairment	Retai (1–4 %)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Undescended testes	Dažnai (30–79%)
Lack of bladder control due to nervous system injury	Retai (1–4 %)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Asthma	Retai (1–4 %)
Eczema	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hairiness	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Respiratory function loss	Dažnai (30–79%)

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 TBCK susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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