Özellikler

DBR1 ile ilişkili özellikler

debranching RNA lariats 1

Human Phenotype Ontology, DBR1 ile ilişkili 115 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Dry skin	Her zaman
Congenital nonbullous ichthyosiform erythroderma	Sık (%30–79)
Absent/small nails	Bazen (%5–29)
Brittle hair	Bazen (%5–29)
Brittle nails	Bazen (%5–29)
Grooved nails	Bazen (%5–29)
Ichthyosis	Bazen (%5–29)
Longitudinal splitting of nail	Bazen (%5–29)
Numerous pigmented freckles	Bazen (%5–29)
Photosensitive skin	Bazen (%5–29)
Poor fingernail formation	Bazen (%5–29)
Prematurely aged appearance	Bazen (%5–29)
Spoon-shaped nails	Bazen (%5–29)
Squamous cell carcinoma	Bazen (%5–29)
Tiger tail banding	Bazen (%5–29)

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Low solidness and mass of the bones	Sık (%30–79)
Absent fat below the skin	Bazen (%5–29)
Delayed bone maturation	Bazen (%5–29)
Generalized decreased muscle tone	Bazen (%5–29)
Increased bone mineral density	Bazen (%5–29)
Involuntary muscle stiffness, contraction, or spasm	Bazen (%5–29)
Joint dislocation	Bazen (%5–29)
Multiple joint contractures	Bazen (%5–29)
Osteopenia	Bazen (%5–29)
Spasticity and rigidity of muscles	Bazen (%5–29)
Thoracic kyphosis	Bazen (%5–29)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Redness of skin or mucous membrane	Her zaman
An opening in the wall separating the top two chambers of the heart	Sık (%30–79)
Disease of the heart muscle	Bazen (%5–29)
Hole in heart wall separating two lower heart chambers	Bazen (%5–29)
Left ventricular hypertrophy	Bazen (%5–29)
Left-to-right shunt	Bazen (%5–29)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Viral encephalitis	Her zaman
Congenital exfoliative erythroderma	Bazen (%5–29)
Eczema	Bazen (%5–29)
Recurrent infections	Bazen (%5–29)
Recurrent infections in bronchi and lungs	Bazen (%5–29)

Abnormality of blood and blood-forming tissues

Özellik	Ne sıklıkla görüldüğü
Increased mean corpuscular hemoglobin concentration	Bazen (%5–29)
Low blood neutrophil count	Bazen (%5–29)
Low number of red blood cells or hemoglobin	Bazen (%5–29)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Bilateral sensorineural hearing impairment	Bazen (%5–29)
Prominent ear	Bazen (%5–29)
Small ears	Bazen (%5–29)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Dilatation of the renal pelvis	Bazen (%5–29)
Gonadal dysgenesis	Bazen (%5–29)
Undescended testes	Bazen (%5–29)

Abnormal cellular phenotype

Özellik	Ne sıklıkla görüldüğü
Defective DNA repair after ultraviolet radiation damage	Bazen (%5–29)
Panhypogammaglobulinemia	Bazen (%5–29)

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
Moderate to late preterm birth	Her zaman
Abnormality of prenatal development or birth	Bazen (%5–29)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Feeding difficulties	Her zaman
Umbilical hernia	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Growth delay as children	Her zaman
Prenatal growth deficiency	Her zaman

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Clubbing of fingers and toes	Bazen (%5–29)

Abnormality of the breast

Özellik	Ne sıklıkla görüldüğü
Low-set nipples	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Bronchoconstriction	Bazen (%5–29)

Abnormality of the voice

Özellik	Ne sıklıkla görüldüğü
Inability to produce voice sounds	Bazen (%5–29)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Brain swelling	Sık (%30–79)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: DBR1 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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