Trăsături

Trăsături asociate cu TBCK

TBC1 domain containing kinase

Human Phenotype Ontology asociază 143 trăsături cu TBCK, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

TBCK

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Axial muscle weakness	Întotdeauna
Delayed bone maturation	Întotdeauna
Distal muscle wasting	Întotdeauna
Funnel chest	Întotdeauna
Generalized decreased muscle tone	Întotdeauna
Increased variability in muscle fiber diameter	Întotdeauna
Low muscle tone	Întotdeauna
Severely decreased muscle tone	Întotdeauna
EMG: chronic denervation signs	Foarte des (80–99%)
Low muscle tone, in neonatal onset	Foarte des (80–99%)
Progressive muscle weakness	Foarte des (80–99%)
EMG: myokymic discharges	Des (30–79%)
Joint contracture	Des (30–79%)
Muscle degeneration	Des (30–79%)
Osteoporosis	Des (30–79%)
11 pairs of ribs	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Întotdeauna
Cerebral visual impairment	Des (30–79%)
Cross-eyed	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Wide-set eyes	Des (30–79%)
Clouding of the lens of the eye	Uneori (5–29%)
Corneal opacity	Uneori (5–29%)
Deeply set eye	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Inward turning cross eyed	Uneori (5–29%)
Abnormal involuntary eye movements	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Acromelia	Întotdeauna
Limb muscle weakness	Întotdeauna
Overlapping toe	Întotdeauna
Single transverse palmar crease	Întotdeauna
Limb undergrowth	Des (30–79%)
Tapered finger	Des (30–79%)
Broad finger	Uneori (5–29%)
Broad toe	Uneori (5–29%)
Curvature of digit	Rar (1–4%)
Webbed 2nd and 3rd toes	Rar (1–4%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Mildly elevated creatine kinase	Întotdeauna
Abnormal circulating lipid concentration	Des (30–79%)
Elevated serum cholesterol	Des (30–79%)
Increased plasma triglycerides	Des (30–79%)
Intermittent hypothermia	Des (30–79%)
Hypothermia	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Fetal pyelectasis	Uneori (5–29%)
High levels of amniotic fluid	Uneori (5–29%)
Less than 10 fetal movements in 12 hours	Uneori (5–29%)
Low levels of amniotic fluid	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Întotdeauna
Gastrostomy tube feeding in infancy	Întotdeauna
Tube feeding	Des (30–79%)
Gap between large left and right abdominal muscles	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Underactive thyroid	Des (30–79%)
Central adrenal insufficiency	Rar (1–4%)
Decreased response to growth hormone stimulation test	Rar (1–4%)
Overactive thyroid	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Right aortic arch	Uneori (5–29%)
Narrowing of pulmonic valve	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Uneori (5–29%)
Hearing impairment	Rar (1–4%)
Sensorineural hearing impairment	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Des (30–79%)
Lack of bladder control due to nervous system injury	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Asthma	Rar (1–4%)
Eczema	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hairiness	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Respiratory function loss	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu TBCK și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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