Požymiai

Su RHOBTB2 susiję požymiai

Rho related BTB domain containing 2

Žmogaus fenotipo ontologija sieja 145 požymių su RHOBTB2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

RHOBTB2

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Epilepsy	Visada
Global developmental delay	Visada
Intellectual disability	Visada
Epileptic encephalopathy	Labai dažnai (80–99%)
Episodic hemiplegia	Labai dažnai (80–99%)
Focal motor seizure	Labai dažnai (80–99%)
Generalized myoclonic seizure	Labai dažnai (80–99%)
Abnormal autonomic nervous system physiology	Dažnai (30–79%)
Absent speech development	Dažnai (30–79%)
Ataxia	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Delayed speech and language development	Dažnai (30–79%)
Difficulty sleeping	Dažnai (30–79%)
Dystonia	Dažnai (30–79%)
EEG abnormality	Dažnai (30–79%)
EEG with burst suppression	Dažnai (30–79%)
Focal tonic seizure	Dažnai (30–79%)
Hypsarrhythmia	Dažnai (30–79%)
Inability to walk	Dažnai (30–79%)
Increased reflexes	Dažnai (30–79%)
Lethargy	Dažnai (30–79%)
Loss of developmental milestones	Dažnai (30–79%)
Neurodevelopmental delay	Dažnai (30–79%)
Paroxysmal dystonia	Dažnai (30–79%)
Repeated seizures without recovery between them	Dažnai (30–79%)
Repetitive movements	Dažnai (30–79%)
Tetraparesis	Dažnai (30–79%)
Abnormal pyramidal sign	Kartais (5–29%)
Absent reflexes	Kartais (5–29%)
Aggressive behavior	Kartais (5–29%)
Autism spectrum disorder	Kartais (5–29%)
Brief seizures with staring spells	Kartais (5–29%)
Bulbar signs	Kartais (5–29%)
Can't control feelings	Kartais (5–29%)
Chorea	Kartais (5–29%)
Choreoathetosis	Kartais (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Kartais (5–29%)
Degeneration of cerebellum	Kartais (5–29%)
Delayed CNS myelination	Kartais (5–29%)
Delayed myelination	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Diffuse cerebral atrophy	Kartais (5–29%)
Diffuse white matter abnormalities	Kartais (5–29%)
Disorder of involuntary muscle movements	Kartais (5–29%)
EEG with spike-wave complexes	Kartais (5–29%)
Episodic ataxia	Kartais (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Kartais (5–29%)
Fewer and broader ridges in brain	Kartais (5–29%)
Generalized clonic seizure	Kartais (5–29%)
Generalized tonic seizure	Kartais (5–29%)
Grand mal seizures	Kartais (5–29%)
Headache	Kartais (5–29%)
Impulsivity	Kartais (5–29%)
Infantile spasms	Kartais (5–29%)
Jerking	Kartais (5–29%)
More active than typical	Kartais (5–29%)
Paroxysmal dyskinesia	Kartais (5–29%)
Seizure affecting one half of brain	Kartais (5–29%)
Self-injurious behavior	Kartais (5–29%)
Small cerebellum	Kartais (5–29%)
Sudden loss of muscle tone	Kartais (5–29%)
Teeth grinding	Kartais (5–29%)
Tremor	Kartais (5–29%)
Underdevelopment of part of brain called corpus callosum	Kartais (5–29%)
Uni- and bilateral multifocal epileptiform discharges	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)
Weakness of one side of body	Kartais (5–29%)
Worsening neurological symptoms	Kartais (5–29%)
Brain imaging abnormality	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormally small head	Dažnai (30–79%)
Broad nasal tip	Kartais (5–29%)
Decreased facial muscle tone	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Downturned corners of mouth	Kartais (5–29%)
Exaggerated cupid's bow	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Full lower lip	Kartais (5–29%)
High forehead	Kartais (5–29%)
Highly arched eyebrow	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Long eyelashes	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Long, narrow head	Kartais (5–29%)
Low frontal hairline	Kartais (5–29%)
Low insertion of columella	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Smooth philtrum	Kartais (5–29%)
Sparse eyebrow	Kartais (5–29%)
Thick eyebrow	Kartais (5–29%)
Thin eyebrow	Kartais (5–29%)
Thin red part of the upper lip	Kartais (5–29%)
Widely spaced teeth	Kartais (5–29%)
Cleft palate	Retai (1–4 %)
Sloping forehead	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abnormality of the gastrointestinal tract	Labai dažnai (80–99%)
Gastrointestinal dysmotility	Labai dažnai (80–99%)
Abdominal bloating	Dažnai (30–79%)
Anorexia	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Diarrhea	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Oral-pharyngeal dysphagia	Dažnai (30–79%)
Poor suck	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Vomiting	Dažnai (30–79%)
Umbilical hernia	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormal involuntary eye movements	Dažnai (30–79%)
Dilated pupil	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Inward turning cross eyed	Dažnai (30–79%)
Outward facing eye ball	Dažnai (30–79%)
Deeply set eye	Kartais (5–29%)
Ocular flutter	Kartais (5–29%)
Oculomotor apraxia	Kartais (5–29%)
Cross-eyed	Retai (1–4 %)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Increased muscle tone of arm or leg	Dažnai (30–79%)
Skewfoot	Kartais (5–29%)
Broad finger	Retai (1–4 %)
Short finger	Retai (1–4 %)
Wide toe bones	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal T-wave	Kartais (5–29%)
Cardiac conduction abnormality	Kartais (5–29%)
Abnormal heart rate	Retai (1–4 %)
Disease of the heart muscle	Retai (1–4 %)
Hole in heart wall separating two lower heart chambers	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Labai dažnai (80–99%)
Decreased muscle tone in infant	Dažnai (30–79%)
Poor head control	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Rigidity	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Flushing	Dažnai (30–79%)
Paleness	Dažnai (30–79%)
Excessive sweating	Kartais (5–29%)
Absent thumbnail	Retai (1–4 %)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Renal dysplasia	Retai (1–4 %)
Short penis	Retai (1–4 %)
Ureterocele	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Apnea	Kartais (5–29%)
Aspiration	Kartais (5–29%)
Breathing difficulties	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Large ears	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Early onset of puberty	Retai (1–4 %)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent respiratory infections	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Dehydration	Kartais (5–29%)

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 RHOBTB2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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