Požymiai

Su DBR1 susiję požymiai

debranching RNA lariats 1

Žmogaus fenotipo ontologija sieja 115 požymių su DBR1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Encephalopathy	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Increased reflexes	Dažnai (30–79%)
Abnormal pyramidal sign	Kartais (5–29%)
Cerebral dysmyelination	Kartais (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Kartais (5–29%)
Decreased reflex response	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Diffuse cerebellar atrophy	Kartais (5–29%)
Generalized hyperreflexia	Kartais (5–29%)
Generalized-onset seizure	Kartais (5–29%)
Global developmental delay	Kartais (5–29%)
Inability to coordinate movements when walking	Kartais (5–29%)
Intention tremor	Kartais (5–29%)
Mild global developmental delay	Kartais (5–29%)
Paraplegia/paraparesis	Kartais (5–29%)
Partial agenesis of the corpus callosum	Kartais (5–29%)
Peripheral neuropathy	Kartais (5–29%)
Periventricular leukomalacia	Kartais (5–29%)
Poor social interactions	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Everted eyelid	Dažnai (30–79%)
Long philtrum	Dažnai (30–79%)
Outward turned lips	Dažnai (30–79%)
Abnormally small head	Kartais (5–29%)
Absence of scalp hair	Kartais (5–29%)
Bird-like facial appearance	Kartais (5–29%)
Coarse facial features	Kartais (5–29%)
Decreased depth of eye sockets	Kartais (5–29%)
Decreased size of nasal bridge	Kartais (5–29%)
Deformity of the skull	Kartais (5–29%)
Dental cavities	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Dry eye syndrome	Kartais (5–29%)
Eye folds	Kartais (5–29%)
High, narrow palate	Kartais (5–29%)
Hypoplasia of mandible relative to maxilla	Kartais (5–29%)
Pink eye	Kartais (5–29%)
Receding chin	Kartais (5–29%)
Sparse scalp hair	Kartais (5–29%)
Thin dental enamel	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Retinopathy of prematurity	Dažnai (30–79%)
Abnormally close eyes	Kartais (5–29%)
Abnormally small eyeball on both sides	Kartais (5–29%)
Anterior polar cataract	Kartais (5–29%)
Astigmatism	Kartais (5–29%)
Close sighted	Kartais (5–29%)
Clouding of the lens of the eye at birth	Kartais (5–29%)
Cornea of eye less than 10mm in diameter	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Extreme sensitivity of the eyes to light	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Inward turning cross eyed	Kartais (5–29%)
Macular degeneration	Kartais (5–29%)
Retina degeneration	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Dry skin	Visada
Congenital nonbullous ichthyosiform erythroderma	Dažnai (30–79%)
Absent/small nails	Kartais (5–29%)
Brittle hair	Kartais (5–29%)
Brittle nails	Kartais (5–29%)
Grooved nails	Kartais (5–29%)
Ichthyosis	Kartais (5–29%)
Longitudinal splitting of nail	Kartais (5–29%)
Numerous pigmented freckles	Kartais (5–29%)
Photosensitive skin	Kartais (5–29%)
Poor fingernail formation	Kartais (5–29%)
Prematurely aged appearance	Kartais (5–29%)
Spoon-shaped nails	Kartais (5–29%)
Squamous cell carcinoma	Kartais (5–29%)
Tiger tail banding	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low solidness and mass of the bones	Dažnai (30–79%)
Absent fat below the skin	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)
Generalized decreased muscle tone	Kartais (5–29%)
Increased bone mineral density	Kartais (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Joint dislocation	Kartais (5–29%)
Multiple joint contractures	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Spasticity and rigidity of muscles	Kartais (5–29%)
Thoracic kyphosis	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Redness of skin or mucous membrane	Visada
An opening in the wall separating the top two chambers of the heart	Dažnai (30–79%)
Disease of the heart muscle	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Left ventricular hypertrophy	Kartais (5–29%)
Left-to-right shunt	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Viral encephalitis	Visada
Congenital exfoliative erythroderma	Kartais (5–29%)
Eczema	Kartais (5–29%)
Recurrent infections	Kartais (5–29%)
Recurrent infections in bronchi and lungs	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Increased mean corpuscular hemoglobin concentration	Kartais (5–29%)
Low blood neutrophil count	Kartais (5–29%)
Low number of red blood cells or hemoglobin	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Bilateral sensorineural hearing impairment	Kartais (5–29%)
Prominent ear	Kartais (5–29%)
Small ears	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Dilatation of the renal pelvis	Kartais (5–29%)
Gonadal dysgenesis	Kartais (5–29%)
Undescended testes	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Defective DNA repair after ultraviolet radiation damage	Kartais (5–29%)
Panhypogammaglobulinemia	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Moderate to late preterm birth	Visada
Abnormality of prenatal development or birth	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Visada
Umbilical hernia	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay as children	Visada
Prenatal growth deficiency	Visada

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Clubbing of fingers and toes	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Low-set nipples	Kartais (5–29%)

Abnormality of the respiratory system

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

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Inability to produce voice sounds	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Brain swelling	Dažnai (30–79%)

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 DBR1 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