Egenskaper

Egenskaper kopplade till DBR1

debranching RNA lariats 1

Human Phenotype Ontology kopplar 115 egenskaper till DBR1, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the integument

Egenskap	Hur ofta den förekommer
Dry skin	Alltid
Congenital nonbullous ichthyosiform erythroderma	Ofta (30–79 %)
Absent/small nails	Ibland (5–29 %)
Brittle hair	Ibland (5–29 %)
Brittle nails	Ibland (5–29 %)
Grooved nails	Ibland (5–29 %)
Ichthyosis	Ibland (5–29 %)
Longitudinal splitting of nail	Ibland (5–29 %)
Numerous pigmented freckles	Ibland (5–29 %)
Photosensitive skin	Ibland (5–29 %)
Poor fingernail formation	Ibland (5–29 %)
Prematurely aged appearance	Ibland (5–29 %)
Spoon-shaped nails	Ibland (5–29 %)
Squamous cell carcinoma	Ibland (5–29 %)
Tiger tail banding	Ibland (5–29 %)

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
Low solidness and mass of the bones	Ofta (30–79 %)
Absent fat below the skin	Ibland (5–29 %)
Delayed bone maturation	Ibland (5–29 %)
Generalized decreased muscle tone	Ibland (5–29 %)
Increased bone mineral density	Ibland (5–29 %)
Involuntary muscle stiffness, contraction, or spasm	Ibland (5–29 %)
Joint dislocation	Ibland (5–29 %)
Multiple joint contractures	Ibland (5–29 %)
Osteopenia	Ibland (5–29 %)
Spasticity and rigidity of muscles	Ibland (5–29 %)
Thoracic kyphosis	Ibland (5–29 %)

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Redness of skin or mucous membrane	Alltid
An opening in the wall separating the top two chambers of the heart	Ofta (30–79 %)
Disease of the heart muscle	Ibland (5–29 %)
Hole in heart wall separating two lower heart chambers	Ibland (5–29 %)
Left ventricular hypertrophy	Ibland (5–29 %)
Left-to-right shunt	Ibland (5–29 %)

Abnormality of the immune system

Egenskap	Hur ofta den förekommer
Viral encephalitis	Alltid
Congenital exfoliative erythroderma	Ibland (5–29 %)
Eczema	Ibland (5–29 %)
Recurrent infections	Ibland (5–29 %)
Recurrent infections in bronchi and lungs	Ibland (5–29 %)

Abnormality of blood and blood-forming tissues

Egenskap	Hur ofta den förekommer
Increased mean corpuscular hemoglobin concentration	Ibland (5–29 %)
Low blood neutrophil count	Ibland (5–29 %)
Low number of red blood cells or hemoglobin	Ibland (5–29 %)

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Bilateral sensorineural hearing impairment	Ibland (5–29 %)
Prominent ear	Ibland (5–29 %)
Small ears	Ibland (5–29 %)

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Dilatation of the renal pelvis	Ibland (5–29 %)
Gonadal dysgenesis	Ibland (5–29 %)
Undescended testes	Ibland (5–29 %)

Abnormal cellular phenotype

Egenskap	Hur ofta den förekommer
Defective DNA repair after ultraviolet radiation damage	Ibland (5–29 %)
Panhypogammaglobulinemia	Ibland (5–29 %)

Abnormality of prenatal development or birth

Egenskap	Hur ofta den förekommer
Moderate to late preterm birth	Alltid
Abnormality of prenatal development or birth	Ibland (5–29 %)

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Feeding difficulties	Alltid
Umbilical hernia	Ibland (5–29 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Growth delay as children	Alltid
Prenatal growth deficiency	Alltid

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Clubbing of fingers and toes	Ibland (5–29 %)

Abnormality of the breast

Egenskap	Hur ofta den förekommer
Low-set nipples	Ibland (5–29 %)

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Bronchoconstriction	Ibland (5–29 %)

Abnormality of the voice

Egenskap	Hur ofta den förekommer
Inability to produce voice sounds	Ibland (5–29 %)

Laboratory abnormality

Egenskap	Hur ofta den förekommer
Brain swelling	Ofta (30–79 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till DBR1 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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