Požymiai

Su UNC13A susiję požymiai

unc-13 homolog A

Žmogaus fenotipo ontologija sieja 180 požymių su UNC13A, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

UNC13A

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal gait	Visada
Absent speech development	Visada
Action tremor	Visada
Aggressive behavior	Visada
Anxiety	Visada
Ataxia	Visada
Autism	Visada
Autism spectrum disorder	Visada
Axonal spheroids	Visada
Bilateral tonic-clonic seizure with focal onset	Visada
Bilateral tonic-clonic seizure with generalized onset	Visada
Decreased compound muscle action potential amplitude	Visada
Decreased reflex response	Visada
Degeneration of the spinal cord	Visada
Delayed ability to walk	Visada
Delayed speech and language development	Visada
Difficulty articulating speech	Visada
Disorder of involuntary muscle movements	Visada
EEG with burst suppression	Visada
EEG with central sharp waves	Visada
Epilepsy	Visada
Febrile seizure (within the age range of 3 months to 6 years)	Visada
Focal impaired awareness seizure	Visada
Gliosis	Visada
Grand mal seizures	Visada
Inability to coordinate movements when walking	Visada
Inability to walk by childhood/adolescence	Visada
Inappropriate laughter	Visada
Instability or lack of coordination of central trunk muscles	Visada
Intellectual disability	Visada
Intellectual disability, mild	Visada
Intellectual disability, severe	Visada
Intention tremor	Visada
IQ between 34 and 49	Visada
Irritability	Visada
Limb tremor	Visada
Lou Gehrig's disease	Visada
More active than typical	Visada
Motor delay	Visada
Multifocal epileptiform discharges	Visada
Multifocal seizures	Visada
Pain insensitivity	Visada
Poor eye contact	Visada
Psychosis	Visada
Simple febrile seizure	Visada
Speech apraxia	Visada
Tonic seizure	Visada
Tremor	Visada
Weakness of one side of body	Visada
Motor neuron atrophy	Labai dažnai (80–99%)
Ongoing loss of nerve cells	Labai dažnai (80–99%)
Absent reflexes	Dažnai (30–79%)
Babinski sign	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Can't control feelings	Dažnai (30–79%)
Cognitive impairment	Dažnai (30–79%)
Depression	Dažnai (30–79%)
Generalized-onset seizure	Dažnai (30–79%)
Hoffmann sign	Dažnai (30–79%)
Hypsarrhythmia	Dažnai (30–79%)
Increased reflexes	Dažnai (30–79%)
Infantile spasms	Dažnai (30–79%)
IQ less than 20	Dažnai (30–79%)
Muscle twitch	Dažnai (30–79%)
Paralysis	Dažnai (30–79%)
Repeated seizures without recovery between them	Dažnai (30–79%)
Seizure affecting one half of brain	Dažnai (30–79%)
Tetraparesis	Dažnai (30–79%)
Thin corpus callosum	Dažnai (30–79%)
Degeneration of cerebrum	Kartais (5–29%)
Delayed CNS myelination	Kartais (5–29%)
Difficulty sleeping	Kartais (5–29%)
Epileptic encephalopathy	Kartais (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Kartais (5–29%)
Frontotemporal dementia	Kartais (5–29%)
High stepping	Kartais (5–29%)
Jaw hyperreflexia	Kartais (5–29%)
Language impairment	Kartais (5–29%)
Periventricular leukomalacia	Kartais (5–29%)
Reduced cerebral white matter volume	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Congenital diaphragmatic hernia	Visada
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Visada
EMG: myopathic abnormalities	Visada
Excessive inward curvature of lower spine	Visada
Generalized muscle weakness	Visada
Generalized osteoporosis	Visada
Kyphoscoliosis	Visada
Low muscle tone	Visada
Osteopenia	Visada
Osteoporosis	Visada
Scoliosis	Visada
Spastic diplegia	Visada
Spastic hemiparesis	Visada
Thoracolumbar scoliosis	Visada
Type 1 muscle fiber predominance	Visada
Type 2 muscle fiber atrophy	Visada
Distal muscle wasting	Dažnai (30–79%)
Fatigable weakness of bulbar muscles	Dažnai (30–79%)
Fatigable weakness of respiratory muscles	Dažnai (30–79%)
Fatigable weakness of swallowing muscles	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Muscle degeneration	Dažnai (30–79%)
Muscle spasm	Dažnai (30–79%)
Progressive distal muscular atrophy	Dažnai (30–79%)
Spastic paraparesis	Kartais (5–29%)
Spasticity and rigidity of muscles	Kartais (5–29%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Broad forehead	Visada
Broad philtrum	Visada
Decreased size of nasal tip	Visada
Depressed nasal bridge	Visada
Drooping lower lip	Visada
High forehead	Visada
High palate	Visada
Narrow forehead	Visada
Nasal tip, upturned	Visada
Short opening between the eyelids	Visada
Smooth philtrum	Visada
Submucous cleft palate	Visada
Underdeveloped tissue around nostril	Visada
Wide nasal bridge	Visada
Decreased salivary flow	Dažnai (30–79%)
Development of small head that was not present at birth	Dažnai (30–79%)
Drooling	Dažnai (30–79%)
Wasting of the tongue	Dažnai (30–79%)
Tongue twitching	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Curvature of little finger	Visada
Dropped arches	Visada
Hip dislocation	Visada
Increased muscle tone of arm or leg	Visada
Knee contracture	Visada
Knock knees	Visada
Partial hip dislocation	Visada
Decreased arm strength	Dažnai (30–79%)
Lower limb muscle weakness	Dažnai (30–79%)
Foot drop	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Acid reflux	Visada
Enlarged liver	Visada
Episodic vomiting	Visada
Feeding difficulties	Visada
Inguinal hernia	Visada
Intrahepatic inclusion bodies	Visada
Poor suck	Visada
Poor swallowing	Visada
Umbilical hernia	Visada

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cerebral visual impairment	Visada
Cross-eyed	Visada
Deeply set eye	Visada
Involuntary, rapid, rhythmic eye movements	Visada
Inward turning cross eyed	Visada
Outward facing eye ball	Visada
Wide-set eyes	Visada
Drooping upper eyelid	Dažnai (30–79%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Cough	Visada
Respiratory failure	Visada
Stiff lung or chest wall causing decreased lung volume	Visada
Ventilator dependence with inability to wean	Visada
Abnormality on pulmonary function testing	Dažnai (30–79%)
Breathing difficulty	Dažnai (30–79%)
Orthopnea	Kartais (5–29%)
Laryngospasm	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Visada
Tall stature	Visada
Truncal obesity	Visada
Short stature	Dažnai (30–79%)
Weight loss	Dažnai (30–79%)
Wasting syndrome	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Fetal distress	Visada
Less than 10 fetal movements in 12 hours	Visada
Premature rupture of membranes	Visada

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Aspiration pneumonia	Visada
Asthma	Visada
Recurrent respiratory infections	Visada

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Hearing abnormality	Visada
Sensorineural hearing impairment	Visada

Constitutional symptom

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

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Patent foramen ovale	Visada

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Undescended testes	Visada

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hair growth	Visada

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Inability to produce voice sounds	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 UNC13A susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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