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Kenmerken
Kenmerken gekoppeld aan DBR1
debranching RNA lariats 1
De Human Phenotype Ontology koppelt 115 kenmerken aan DBR1, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.
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Abnormality of the nervous system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Encephalopathy | Vaak (30–79%) |
| Epilepsy | Vaak (30–79%) |
| Increased reflexes | Vaak (30–79%) |
| Abnormal pyramidal sign | Soms (5–29%) |
| Cerebral dysmyelination | Soms (5–29%) |
| Decrease in size of the outer layer of the brain due to loss of brain cells | Soms (5–29%) |
| Decreased reflex response | Soms (5–29%) |
| Difficulty articulating speech | Soms (5–29%) |
| Diffuse cerebellar atrophy | Soms (5–29%) |
| Generalized hyperreflexia | Soms (5–29%) |
| Generalized-onset seizure | Soms (5–29%) |
| Global developmental delay | Soms (5–29%) |
| Inability to coordinate movements when walking | Soms (5–29%) |
| Intention tremor | Soms (5–29%) |
| Mild global developmental delay | Soms (5–29%) |
| Paraplegia/paraparesis | Soms (5–29%) |
| Partial agenesis of the corpus callosum | Soms (5–29%) |
| Peripheral neuropathy | Soms (5–29%) |
| Periventricular leukomalacia | Soms (5–29%) |
| Poor social interactions | Soms (5–29%) |
| Ventriculomegaly | Soms (5–29%) |
Abnormality of head or neck
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Everted eyelid | Vaak (30–79%) |
| Long philtrum | Vaak (30–79%) |
| Outward turned lips | Vaak (30–79%) |
| Abnormally small head | Soms (5–29%) |
| Absence of scalp hair | Soms (5–29%) |
| Bird-like facial appearance | Soms (5–29%) |
| Coarse facial features | Soms (5–29%) |
| Decreased depth of eye sockets | Soms (5–29%) |
| Decreased size of nasal bridge | Soms (5–29%) |
| Deformity of the skull | Soms (5–29%) |
| Dental cavities | Soms (5–29%) |
| Downward slanting of the opening between the eyelids | Soms (5–29%) |
| Dry eye syndrome | Soms (5–29%) |
| Eye folds | Soms (5–29%) |
| High, narrow palate | Soms (5–29%) |
| Hypoplasia of mandible relative to maxilla | Soms (5–29%) |
| Pink eye | Soms (5–29%) |
| Receding chin | Soms (5–29%) |
| Sparse scalp hair | Soms (5–29%) |
| Thin dental enamel | Soms (5–29%) |
Abnormality of the eye
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Retinopathy of prematurity | Vaak (30–79%) |
| Abnormally close eyes | Soms (5–29%) |
| Abnormally small eyeball on both sides | Soms (5–29%) |
| Anterior polar cataract | Soms (5–29%) |
| Astigmatism | Soms (5–29%) |
| Close sighted | Soms (5–29%) |
| Clouding of the lens of the eye at birth | Soms (5–29%) |
| Cornea of eye less than 10mm in diameter | Soms (5–29%) |
| Cross-eyed | Soms (5–29%) |
| Extreme sensitivity of the eyes to light | Soms (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Soms (5–29%) |
| Inward turning cross eyed | Soms (5–29%) |
| Macular degeneration | Soms (5–29%) |
| Retina degeneration | Soms (5–29%) |
| Wide-set eyes | Soms (5–29%) |
Abnormality of the integument
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Dry skin | Altijd |
| Congenital nonbullous ichthyosiform erythroderma | Vaak (30–79%) |
| Absent/small nails | Soms (5–29%) |
| Brittle hair | Soms (5–29%) |
| Brittle nails | Soms (5–29%) |
| Grooved nails | Soms (5–29%) |
| Ichthyosis | Soms (5–29%) |
| Longitudinal splitting of nail | Soms (5–29%) |
| Numerous pigmented freckles | Soms (5–29%) |
| Photosensitive skin | Soms (5–29%) |
| Poor fingernail formation | Soms (5–29%) |
| Prematurely aged appearance | Soms (5–29%) |
| Spoon-shaped nails | Soms (5–29%) |
| Squamous cell carcinoma | Soms (5–29%) |
| Tiger tail banding | Soms (5–29%) |
Abnormality of the musculoskeletal system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Low solidness and mass of the bones | Vaak (30–79%) |
| Absent fat below the skin | Soms (5–29%) |
| Delayed bone maturation | Soms (5–29%) |
| Generalized decreased muscle tone | Soms (5–29%) |
| Increased bone mineral density | Soms (5–29%) |
| Involuntary muscle stiffness, contraction, or spasm | Soms (5–29%) |
| Joint dislocation | Soms (5–29%) |
| Multiple joint contractures | Soms (5–29%) |
| Osteopenia | Soms (5–29%) |
| Spasticity and rigidity of muscles | Soms (5–29%) |
| Thoracic kyphosis | Soms (5–29%) |
Abnormality of the cardiovascular system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Redness of skin or mucous membrane | Altijd |
| An opening in the wall separating the top two chambers of the heart | Vaak (30–79%) |
| Disease of the heart muscle | Soms (5–29%) |
| Hole in heart wall separating two lower heart chambers | Soms (5–29%) |
| Left ventricular hypertrophy | Soms (5–29%) |
| Left-to-right shunt | Soms (5–29%) |
Abnormality of the immune system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Viral encephalitis | Altijd |
| Congenital exfoliative erythroderma | Soms (5–29%) |
| Eczema | Soms (5–29%) |
| Recurrent infections | Soms (5–29%) |
| Recurrent infections in bronchi and lungs | Soms (5–29%) |
Abnormality of blood and blood-forming tissues
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Increased mean corpuscular hemoglobin concentration | Soms (5–29%) |
| Low blood neutrophil count | Soms (5–29%) |
| Low number of red blood cells or hemoglobin | Soms (5–29%) |
Abnormality of the ear
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Bilateral sensorineural hearing impairment | Soms (5–29%) |
| Prominent ear | Soms (5–29%) |
| Small ears | Soms (5–29%) |
Abnormality of the genitourinary system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Dilatation of the renal pelvis | Soms (5–29%) |
| Gonadal dysgenesis | Soms (5–29%) |
| Undescended testes | Soms (5–29%) |
Abnormal cellular phenotype
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Defective DNA repair after ultraviolet radiation damage | Soms (5–29%) |
| Panhypogammaglobulinemia | Soms (5–29%) |
Abnormality of prenatal development or birth
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Moderate to late preterm birth | Altijd |
| Abnormality of prenatal development or birth | Soms (5–29%) |
Abnormality of the digestive system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Feeding difficulties | Altijd |
| Umbilical hernia | Soms (5–29%) |
Growth abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Growth delay as children | Altijd |
| Prenatal growth deficiency | Altijd |
Abnormality of limbs
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Clubbing of fingers and toes | Soms (5–29%) |
Abnormality of the breast
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Low-set nipples | Soms (5–29%) |
Abnormality of the respiratory system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Bronchoconstriction | Soms (5–29%) |
Abnormality of the voice
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Inability to produce voice sounds | Soms (5–29%) |
Laboratory abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Brain swelling | Vaak (30–79%) |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Waar dit vandaan komt
- De Human Phenotype Ontology, versie 2026-09-01: de aan DBR1 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.
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