Tunnused

Geeniga RHOBTB2 seotud tunnused

Rho related BTB domain containing 2

Inimese fenotüübi ontoloogia seostab geeniga RHOBTB2 145 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

RHOBTB2

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the gastrointestinal tract	Väga sageli (80–99%)
Gastrointestinal dysmotility	Väga sageli (80–99%)
Abdominal bloating	Sageli (30–79%)
Anorexia	Sageli (30–79%)
Constipation	Sageli (30–79%)
Diarrhea	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Oral-pharyngeal dysphagia	Sageli (30–79%)
Poor suck	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)
Vomiting	Sageli (30–79%)
Umbilical hernia	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormal involuntary eye movements	Sageli (30–79%)
Dilated pupil	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Inward turning cross eyed	Sageli (30–79%)
Outward facing eye ball	Sageli (30–79%)
Deeply set eye	Mõnikord (5–29%)
Ocular flutter	Mõnikord (5–29%)
Oculomotor apraxia	Mõnikord (5–29%)
Cross-eyed	Harva (1–4%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Increased muscle tone of arm or leg	Sageli (30–79%)
Skewfoot	Mõnikord (5–29%)
Broad finger	Harva (1–4%)
Short finger	Harva (1–4%)
Wide toe bones	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal T-wave	Mõnikord (5–29%)
Cardiac conduction abnormality	Mõnikord (5–29%)
Abnormal heart rate	Harva (1–4%)
Disease of the heart muscle	Harva (1–4%)
Hole in heart wall separating two lower heart chambers	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Low muscle tone	Väga sageli (80–99%)
Decreased muscle tone in infant	Sageli (30–79%)
Poor head control	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Mõnikord (5–29%)
Rigidity	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Flushing	Sageli (30–79%)
Paleness	Sageli (30–79%)
Excessive sweating	Mõnikord (5–29%)
Absent thumbnail	Harva (1–4%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Renal dysplasia	Harva (1–4%)
Short penis	Harva (1–4%)
Ureterocele	Harva (1–4%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Apnea	Mõnikord (5–29%)
Aspiration	Mõnikord (5–29%)
Breathing difficulties	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Large ears	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Early onset of puberty	Harva (1–4%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent respiratory infections	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Dehydration	Mõnikord (5–29%)

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 RHOBTB2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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