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ConectareÎntrebațiSecvențiați-vă genomul↗
Trăsături
Trăsături asociate cu DBR1
debranching RNA lariats 1
Human Phenotype Ontology asociază 115 trăsături cu DBR1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the nervous system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Encephalopathy | Des (30–79%) |
| Epilepsy | Des (30–79%) |
| Increased reflexes | Des (30–79%) |
| Abnormal pyramidal sign | Uneori (5–29%) |
| Cerebral dysmyelination | Uneori (5–29%) |
| Decrease in size of the outer layer of the brain due to loss of brain cells | Uneori (5–29%) |
| Decreased reflex response | Uneori (5–29%) |
| Difficulty articulating speech | Uneori (5–29%) |
| Diffuse cerebellar atrophy | Uneori (5–29%) |
| Generalized hyperreflexia | Uneori (5–29%) |
| Generalized-onset seizure | Uneori (5–29%) |
| Global developmental delay | Uneori (5–29%) |
| Inability to coordinate movements when walking | Uneori (5–29%) |
| Intention tremor | Uneori (5–29%) |
| Mild global developmental delay | Uneori (5–29%) |
| Paraplegia/paraparesis | Uneori (5–29%) |
| Partial agenesis of the corpus callosum | Uneori (5–29%) |
| Peripheral neuropathy | Uneori (5–29%) |
| Periventricular leukomalacia | Uneori (5–29%) |
| Poor social interactions | Uneori (5–29%) |
| Ventriculomegaly | Uneori (5–29%) |
Abnormality of head or neck
| Trăsătură | Cât de frecvent apare |
|---|---|
| Everted eyelid | Des (30–79%) |
| Long philtrum | Des (30–79%) |
| Outward turned lips | Des (30–79%) |
| Abnormally small head | Uneori (5–29%) |
| Absence of scalp hair | Uneori (5–29%) |
| Bird-like facial appearance | Uneori (5–29%) |
| Coarse facial features | Uneori (5–29%) |
| Decreased depth of eye sockets | Uneori (5–29%) |
| Decreased size of nasal bridge | Uneori (5–29%) |
| Deformity of the skull | Uneori (5–29%) |
| Dental cavities | Uneori (5–29%) |
| Downward slanting of the opening between the eyelids | Uneori (5–29%) |
| Dry eye syndrome | Uneori (5–29%) |
| Eye folds | Uneori (5–29%) |
| High, narrow palate | Uneori (5–29%) |
| Hypoplasia of mandible relative to maxilla | Uneori (5–29%) |
| Pink eye | Uneori (5–29%) |
| Receding chin | Uneori (5–29%) |
| Sparse scalp hair | Uneori (5–29%) |
| Thin dental enamel | Uneori (5–29%) |
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Retinopathy of prematurity | Des (30–79%) |
| Abnormally close eyes | Uneori (5–29%) |
| Abnormally small eyeball on both sides | Uneori (5–29%) |
| Anterior polar cataract | Uneori (5–29%) |
| Astigmatism | Uneori (5–29%) |
| Close sighted | Uneori (5–29%) |
| Clouding of the lens of the eye at birth | Uneori (5–29%) |
| Cornea of eye less than 10mm in diameter | Uneori (5–29%) |
| Cross-eyed | Uneori (5–29%) |
| Extreme sensitivity of the eyes to light | Uneori (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Uneori (5–29%) |
| Inward turning cross eyed | Uneori (5–29%) |
| Macular degeneration | Uneori (5–29%) |
| Retina degeneration | Uneori (5–29%) |
| Wide-set eyes | Uneori (5–29%) |
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Dry skin | Întotdeauna |
| Congenital nonbullous ichthyosiform erythroderma | Des (30–79%) |
| Absent/small nails | Uneori (5–29%) |
| Brittle hair | Uneori (5–29%) |
| Brittle nails | Uneori (5–29%) |
| Grooved nails | Uneori (5–29%) |
| Ichthyosis | Uneori (5–29%) |
| Longitudinal splitting of nail | Uneori (5–29%) |
| Numerous pigmented freckles | Uneori (5–29%) |
| Photosensitive skin | Uneori (5–29%) |
| Poor fingernail formation | Uneori (5–29%) |
| Prematurely aged appearance | Uneori (5–29%) |
| Spoon-shaped nails | Uneori (5–29%) |
| Squamous cell carcinoma | Uneori (5–29%) |
| Tiger tail banding | Uneori (5–29%) |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Low solidness and mass of the bones | Des (30–79%) |
| Absent fat below the skin | Uneori (5–29%) |
| Delayed bone maturation | Uneori (5–29%) |
| Generalized decreased muscle tone | Uneori (5–29%) |
| Increased bone mineral density | Uneori (5–29%) |
| Involuntary muscle stiffness, contraction, or spasm | Uneori (5–29%) |
| Joint dislocation | Uneori (5–29%) |
| Multiple joint contractures | Uneori (5–29%) |
| Osteopenia | Uneori (5–29%) |
| Spasticity and rigidity of muscles | Uneori (5–29%) |
| Thoracic kyphosis | Uneori (5–29%) |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Redness of skin or mucous membrane | Întotdeauna |
| An opening in the wall separating the top two chambers of the heart | Des (30–79%) |
| Disease of the heart muscle | Uneori (5–29%) |
| Hole in heart wall separating two lower heart chambers | Uneori (5–29%) |
| Left ventricular hypertrophy | Uneori (5–29%) |
| Left-to-right shunt | Uneori (5–29%) |
Abnormality of the immune system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Viral encephalitis | Întotdeauna |
| Congenital exfoliative erythroderma | Uneori (5–29%) |
| Eczema | Uneori (5–29%) |
| Recurrent infections | Uneori (5–29%) |
| Recurrent infections in bronchi and lungs | Uneori (5–29%) |
Abnormality of blood and blood-forming tissues
| Trăsătură | Cât de frecvent apare |
|---|---|
| Increased mean corpuscular hemoglobin concentration | Uneori (5–29%) |
| Low blood neutrophil count | Uneori (5–29%) |
| Low number of red blood cells or hemoglobin | Uneori (5–29%) |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Bilateral sensorineural hearing impairment | Uneori (5–29%) |
| Prominent ear | Uneori (5–29%) |
| Small ears | Uneori (5–29%) |
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Dilatation of the renal pelvis | Uneori (5–29%) |
| Gonadal dysgenesis | Uneori (5–29%) |
| Undescended testes | Uneori (5–29%) |
Abnormal cellular phenotype
| Trăsătură | Cât de frecvent apare |
|---|---|
| Defective DNA repair after ultraviolet radiation damage | Uneori (5–29%) |
| Panhypogammaglobulinemia | Uneori (5–29%) |
Abnormality of prenatal development or birth
| Trăsătură | Cât de frecvent apare |
|---|---|
| Moderate to late preterm birth | Întotdeauna |
| Abnormality of prenatal development or birth | Uneori (5–29%) |
Abnormality of the digestive system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Feeding difficulties | Întotdeauna |
| Umbilical hernia | Uneori (5–29%) |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Growth delay as children | Întotdeauna |
| Prenatal growth deficiency | Întotdeauna |
Abnormality of limbs
| Trăsătură | Cât de frecvent apare |
|---|---|
| Clubbing of fingers and toes | Uneori (5–29%) |
Abnormality of the breast
| Trăsătură | Cât de frecvent apare |
|---|---|
| Low-set nipples | Uneori (5–29%) |
Abnormality of the respiratory system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Bronchoconstriction | Uneori (5–29%) |
Abnormality of the voice
| Trăsătură | Cât de frecvent apare |
|---|---|
| Inability to produce voice sounds | Uneori (5–29%) |
Laboratory abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Brain swelling | Des (30–79%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu DBR1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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