Požymiai

Su RAI1 susiję požymiai

retinoic acid induced 1

Žmogaus fenotipo ontologija sieja 197 požymių su RAI1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

RAI1

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
Intellectual disability	Visada
Mild global developmental delay	Visada
Abnormal speech pattern	Labai dažnai (80–99%)
Anxiety	Labai dažnai (80–99%)
Attention deficit	Labai dažnai (80–99%)
Autism	Labai dažnai (80–99%)
Communication delay	Labai dažnai (80–99%)
Decreased reflex response	Labai dažnai (80–99%)
Delayed ability to walk	Labai dažnai (80–99%)
Delayed speech and language development	Labai dažnai (80–99%)
Difficulty articulating speech	Labai dažnai (80–99%)
Difficulty finding words	Labai dažnai (80–99%)
Difficulty sleeping	Labai dažnai (80–99%)
Echoing another person's speech	Labai dažnai (80–99%)
Intellectual disability, mild	Labai dažnai (80–99%)
Pauses in breathing while sleeping	Labai dažnai (80–99%)
Repetitive movements	Labai dažnai (80–99%)
Self-injurious behavior	Labai dažnai (80–99%)
Self-mutilation	Labai dažnai (80–99%)
Abnormal gait	Dažnai (30–79%)
Abnormal temper tantrums	Dažnai (30–79%)
Aplasia/Hypoplasia of the corpus callosum	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Brain imaging abnormality	Dažnai (30–79%)
Brief seizures with staring spells	Dažnai (30–79%)
Cognitive impairment	Dažnai (30–79%)
Decreased sensation in extremities	Dažnai (30–79%)
EEG abnormality	Dažnai (30–79%)
Head-banging	Dažnai (30–79%)
Hyperacusis	Dažnai (30–79%)
Impaired pain sensation	Dažnai (30–79%)
Impulsivity	Dažnai (30–79%)
More active than typical	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Onychotillomania	Dažnai (30–79%)
Pain insensitivity	Dažnai (30–79%)
Peripheral neuropathy	Dažnai (30–79%)
Polyembolokoilamania	Dažnai (30–79%)
Poor fine motor coordination	Dažnai (30–79%)
Short REM sleep	Dažnai (30–79%)
Sleep-wake cycle disturbance	Dažnai (30–79%)
Speech apraxia	Dažnai (30–79%)
Toe walking	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Damage to nerves that sense feeling	Kartais (5–29%)
Decreased nerve conduction velocity	Kartais (5–29%)
Decreased number of peripheral myelinated nerve fibers	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Fluid-filled cyst in spinal cord	Kartais (5–29%)
Underdevelopment of part of brain called corpus callosum	Kartais (5–29%)
Wide based walk	Kartais (5–29%)
Absent reflexes	Neužfiksuota
Delayed myelination	Neužfiksuota
Language impairment	Neužfiksuota
Morphological central nervous system abnormality	Neužfiksuota
Poor eye contact	Neužfiksuota
Receptive language delay	Neužfiksuota
Self hugging	Neužfiksuota
Sleep-wake inversion	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Midface retrusion	Visada
Square face	Visada
Abnormal dentition	Labai dažnai (80–99%)
Abnormal facial shape	Labai dažnai (80–99%)
Broad forehead	Labai dažnai (80–99%)
Broad head shape	Labai dažnai (80–99%)
Delayed eruption of baby teeth	Labai dažnai (80–99%)
Depressed nasal bridge	Labai dažnai (80–99%)
Frontal bossing	Labai dažnai (80–99%)
Large face	Labai dažnai (80–99%)
Monobrow	Labai dažnai (80–99%)
Taurodontia	Labai dažnai (80–99%)
Tented mouth	Labai dažnai (80–99%)
Upward slanting of the opening between the eyelids	Labai dažnai (80–99%)
Wide nasal bridge	Labai dažnai (80–99%)
Zygomatic flattening	Labai dažnai (80–99%)
Big lower jaw	Dažnai (30–79%)
Broad face	Dažnai (30–79%)
Coarse facial features	Dažnai (30–79%)
Downturned corners of mouth	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
Drooping upper lip	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Nasal tip, upturned	Dažnai (30–79%)
Open mouth	Dažnai (30–79%)
Prominent forehead	Dažnai (30–79%)
Recurrent colds	Dažnai (30–79%)
Short nose	Dažnai (30–79%)
Short philtrum	Dažnai (30–79%)
Triangular face	Dažnai (30–79%)
Velopharyngeal incompetence	Dažnai (30–79%)
Abnormality of dental shape	Kartais (5–29%)
Abnormally small head	Kartais (5–29%)
Cleft of the mouth	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Cleft upper lip	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Open bite	Kartais (5–29%)
Smooth philtrum	Kartais (5–29%)
Thin red part of the upper lip	Kartais (5–29%)
Wide mouth	Kartais (5–29%)
Wide nose	Kartais (5–29%)
Bad bite	Neužfiksuota
Dental crowding	Neužfiksuota
High palate	Neužfiksuota
Prominent nasal tip	Neužfiksuota
Triangular head shape	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Short fingers or toes	Labai dažnai (80–99%)
Abnormal feet structure	Dažnai (30–79%)
Broad palm	Dažnai (30–79%)
Curvature of little finger	Dažnai (30–79%)
Decreased/absent ankle reflexes	Dažnai (30–79%)
Dropped arches	Dažnai (30–79%)
Foot drop	Dažnai (30–79%)
Fused toes	Dažnai (30–79%)
Short middle bone of the little finger	Dažnai (30–79%)
Short palm	Dažnai (30–79%)
Abnormality of the forearm	Kartais (5–29%)
Club feet	Kartais (5–29%)
Extra finger	Kartais (5–29%)
Gap between 1st and 2nd toes	Kartais (5–29%)
Pes valgus	Kartais (5–29%)
Webbed 2nd and 3rd toes	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Dažnai (30–79%)
Abnormality of the heart	Dažnai (30–79%)
Abnormal heart rate	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Aortic valve has two leaflets rather than three	Kartais (5–29%)
Bulge in wall of large artery that carries blood away from heart	Kartais (5–29%)
Double outlet right ventricle	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Overriding aorta	Kartais (5–29%)
Patent foramen ovale	Kartais (5–29%)
Persistent left superior vena cava	Kartais (5–29%)
Abnormality of the cardiovascular system	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cross-eyed	Visada
Deeply set eye	Labai dažnai (80–99%)
Abnormality of the eye	Dažnai (30–79%)
Close sighted	Dažnai (30–79%)
Cornea of eye less than 10mm in diameter	Dažnai (30–79%)
Severe farsightedness	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Iris nodule	Kartais (5–29%)
Retinal detachment	Kartais (5–29%)
Farsightedness	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Recurrent middle ear infection	Labai dažnai (80–99%)
Abnormality of the outer ear	Dažnai (30–79%)
Chronic infections of the middle ear	Dažnai (30–79%)
Conductive deafness	Dažnai (30–79%)
Hearing impairment	Dažnai (30–79%)
Middle ear malformation	Dažnai (30–79%)
Abnormally shaped ears	Kartais (5–29%)
Ears rotated toward back of head	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Visada
Decreased muscle tone in infant	Labai dažnai (80–99%)
Distal muscle wasting	Dažnai (30–79%)
Double-Jointed	Dažnai (30–79%)
Generalized decreased muscle tone	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Weakness of outermost muscles	Dažnai (30–79%)
Joint stiffness	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Truncal obesity	Visada
Faltering weight	Labai dažnai (80–99%)
Obesity	Labai dažnai (80–99%)
Faltering weight in infancy	Dažnai (30–79%)
Increased body weight	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Small for gestational age	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormally shaped kidney	Dažnai (30–79%)
Abnormal localisation of kidneys	Kartais (5–29%)
Abnormality of the genitourinary system	Kartais (5–29%)
Abnormality of the ureter	Kartais (5–29%)
Absent/small kidney	Kartais (5–29%)
Urinary tract abnormalities	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties in infancy	Labai dažnai (80–99%)
Acid reflux	Dažnai (30–79%)
Chronic constipation	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Oral-pharyngeal dysphagia	Dažnai (30–79%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Abnormal pineal melatonin secretion	Labai dažnai (80–99%)
Abnormality of the thyroid gland	Dažnai (30–79%)
Delayed puberty	Kartais (5–29%)
Early onset of puberty	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormal tracheobronchial morphology	Labai dažnai (80–99%)
Abnormality of the pharynx	Labai dažnai (80–99%)
Abnormality of the larynx	Dažnai (30–79%)
Spontaneous collapsed lung	Dažnai (30–79%)
Vocal cord polyp	Dažnai (30–79%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Elevated serum cholesterol	Dažnai (30–79%)
Increased plasma triglycerides	Dažnai (30–79%)
Decreased circulating cholesterol level	Neužfiksuota

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Abnormality of chromosome segregation	Labai dažnai (80–99%)
Decreased circulating IgA concentration	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Less than 10 fetal movements in 12 hours	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Abnormality of the immune system	Dažnai (30–79%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Hoarse voice	Labai dažnai (80–99%)

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 RAI1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

Vienas testas. Atsakymai visam gyvenimui.

Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites

Įsigyti savo Genome Test