Egenskaber

Egenskaber knyttet til UNC13A

unc-13 homolog A

Human Phenotype Ontology knytter 180 egenskaber til UNC13A, opdelt efter kropssystem: træk, der ses hos personer med en af genets sjældne sygdomme.

UNC13A

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

Egenskab	Hvor ofte det ses
Broad forehead	Altid
Broad philtrum	Altid
Decreased size of nasal tip	Altid
Depressed nasal bridge	Altid
Drooping lower lip	Altid
High forehead	Altid
High palate	Altid
Narrow forehead	Altid
Nasal tip, upturned	Altid
Short opening between the eyelids	Altid
Smooth philtrum	Altid
Submucous cleft palate	Altid
Underdeveloped tissue around nostril	Altid
Wide nasal bridge	Altid
Decreased salivary flow	Ofte (30–79 %)
Development of small head that was not present at birth	Ofte (30–79 %)
Drooling	Ofte (30–79 %)
Wasting of the tongue	Ofte (30–79 %)
Tongue twitching	Nogle gange (5–29 %)

Abnormality of limbs

Egenskab	Hvor ofte det ses
Curvature of little finger	Altid
Dropped arches	Altid
Hip dislocation	Altid
Increased muscle tone of arm or leg	Altid
Knee contracture	Altid
Knock knees	Altid
Partial hip dislocation	Altid
Decreased arm strength	Ofte (30–79 %)
Lower limb muscle weakness	Ofte (30–79 %)
Foot drop	Nogle gange (5–29 %)

Abnormality of the digestive system

Egenskab	Hvor ofte det ses
Acid reflux	Altid
Enlarged liver	Altid
Episodic vomiting	Altid
Feeding difficulties	Altid
Inguinal hernia	Altid
Intrahepatic inclusion bodies	Altid
Poor suck	Altid
Poor swallowing	Altid
Umbilical hernia	Altid

Abnormality of the eye

Egenskab	Hvor ofte det ses
Cerebral visual impairment	Altid
Cross-eyed	Altid
Deeply set eye	Altid
Involuntary, rapid, rhythmic eye movements	Altid
Inward turning cross eyed	Altid
Outward facing eye ball	Altid
Wide-set eyes	Altid
Drooping upper eyelid	Ofte (30–79 %)

Abnormality of the respiratory system

Egenskab	Hvor ofte det ses
Cough	Altid
Respiratory failure	Altid
Stiff lung or chest wall causing decreased lung volume	Altid
Ventilator dependence with inability to wean	Altid
Abnormality on pulmonary function testing	Ofte (30–79 %)
Breathing difficulty	Ofte (30–79 %)
Orthopnea	Nogle gange (5–29 %)
Laryngospasm	Sjældent (1–4%)

Growth abnormality

Egenskab	Hvor ofte det ses
Faltering weight	Altid
Tall stature	Altid
Truncal obesity	Altid
Short stature	Ofte (30–79 %)
Weight loss	Ofte (30–79 %)
Wasting syndrome	Nogle gange (5–29 %)

Abnormality of prenatal development or birth

Egenskab	Hvor ofte det ses
Fetal distress	Altid
Less than 10 fetal movements in 12 hours	Altid
Premature rupture of membranes	Altid

Abnormality of the immune system

Egenskab	Hvor ofte det ses
Aspiration pneumonia	Altid
Asthma	Altid
Recurrent respiratory infections	Altid

Abnormality of the ear

Egenskab	Hvor ofte det ses
Hearing abnormality	Altid
Sensorineural hearing impairment	Altid

Constitutional symptom

Egenskab	Hvor ofte det ses
Fatigue	Ofte (30–79 %)
Pain	Ofte (30–79 %)

Abnormality of the cardiovascular system

Egenskab	Hvor ofte det ses
Patent foramen ovale	Altid

Abnormality of the genitourinary system

Egenskab	Hvor ofte det ses
Undescended testes	Altid

Abnormality of the integument

Egenskab	Hvor ofte det ses
Excessive hair growth	Altid

Abnormality of the voice

Egenskab	Hvor ofte det ses
Inability to produce voice sounds	Ofte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

Human Phenotype Ontology, version 2026-09-01: egenskaberne knyttet til UNC13A og hvor ofte hver enkelt ses. Læs mere på hpo.jax.org.

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