Tunnused

Geeniga UNC13A seotud tunnused

unc-13 homolog A

Inimese fenotüübi ontoloogia seostab geeniga UNC13A 180 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Broad forehead	Alati
Broad philtrum	Alati
Decreased size of nasal tip	Alati
Depressed nasal bridge	Alati
Drooping lower lip	Alati
High forehead	Alati
High palate	Alati
Narrow forehead	Alati
Nasal tip, upturned	Alati
Short opening between the eyelids	Alati
Smooth philtrum	Alati
Submucous cleft palate	Alati
Underdeveloped tissue around nostril	Alati
Wide nasal bridge	Alati
Decreased salivary flow	Sageli (30–79%)
Development of small head that was not present at birth	Sageli (30–79%)
Drooling	Sageli (30–79%)
Wasting of the tongue	Sageli (30–79%)
Tongue twitching	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Curvature of little finger	Alati
Dropped arches	Alati
Hip dislocation	Alati
Increased muscle tone of arm or leg	Alati
Knee contracture	Alati
Knock knees	Alati
Partial hip dislocation	Alati
Decreased arm strength	Sageli (30–79%)
Lower limb muscle weakness	Sageli (30–79%)
Foot drop	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Acid reflux	Alati
Enlarged liver	Alati
Episodic vomiting	Alati
Feeding difficulties	Alati
Inguinal hernia	Alati
Intrahepatic inclusion bodies	Alati
Poor suck	Alati
Poor swallowing	Alati
Umbilical hernia	Alati

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cerebral visual impairment	Alati
Cross-eyed	Alati
Deeply set eye	Alati
Involuntary, rapid, rhythmic eye movements	Alati
Inward turning cross eyed	Alati
Outward facing eye ball	Alati
Wide-set eyes	Alati
Drooping upper eyelid	Sageli (30–79%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Cough	Alati
Respiratory failure	Alati
Stiff lung or chest wall causing decreased lung volume	Alati
Ventilator dependence with inability to wean	Alati
Abnormality on pulmonary function testing	Sageli (30–79%)
Breathing difficulty	Sageli (30–79%)
Orthopnea	Mõnikord (5–29%)
Laryngospasm	Harva (1–4%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Alati
Tall stature	Alati
Truncal obesity	Alati
Short stature	Sageli (30–79%)
Weight loss	Sageli (30–79%)
Wasting syndrome	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Fetal distress	Alati
Less than 10 fetal movements in 12 hours	Alati
Premature rupture of membranes	Alati

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Aspiration pneumonia	Alati
Asthma	Alati
Recurrent respiratory infections	Alati

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing abnormality	Alati
Sensorineural hearing impairment	Alati

Constitutional symptom

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

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Patent foramen ovale	Alati

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Undescended testes	Alati

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Excessive hair growth	Alati

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Inability to produce voice sounds	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 UNC13A seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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