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Trăsături

Trăsături asociate cu RBM8A

RNA binding motif protein 8A

Human Phenotype Ontology asociază 91 trăsături cu RBM8A, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of limbs

TrăsăturăCât de frecvent apare
Bilateral radial aplasiaÎntotdeauna
Curving of inner forearm boneÎntotdeauna
Inward turned thumbÎntotdeauna
Radial deviation of the handÎntotdeauna
Short forearmÎntotdeauna
Ulnar deviation of the handÎntotdeauna
Missing outer large bone of forearmFoarte des (80–99%)
Short thumbFoarte des (80–99%)
Absence/underdevelopment of inner forearm boneDes (30–79%)
Absent kneecapDes (30–79%)
Absent/small kneecapDes (30–79%)
Absent/small long bone in upper armDes (30–79%)
Broad thumbDes (30–79%)
Coxa valgaDes (30–79%)
Curvature of little fingerDes (30–79%)
Dislocated kneecapDes (30–79%)
Hip dislocationDes (30–79%)
Outward bow-leggednessDes (30–79%)
Tibial torsionDes (30–79%)
Underdeveloped outer large forearm boneDes (30–79%)
Absent calf boneUneori (5–29%)
Bowed thighboneUneori (5–29%)
Club feetUneori (5–29%)
Finger syndactylyUneori (5–29%)
PhocomeliaUneori (5–29%)
Short finger bonesUneori (5–29%)
Small carpal bonesUneori (5–29%)
Underdeveloped inner large forearm boneUneori (5–29%)
Edema of the dorsum of feetRar (1–4%)
Fused wrist bonesNeînregistrat
Underdeveloped shoulder muscleNeînregistrat

Abnormality of the nervous system

TrăsăturăCât de frecvent apare
Cerebellar vermis hypoplasiaÎntotdeauna
Cavum septum pellucidumUneori (5–29%)
Delayed CNS myelinationUneori (5–29%)
Global developmental delayUneori (5–29%)
Small cerebellumUneori (5–29%)
Fluid-filled cyst in spinal cordRar (1–4%)
Intellectual disabilityRar (1–4%)
EpilepsyNeînregistrat
Motor delayNeînregistrat
Split spineNeînregistrat

Abnormality of the genitourinary system

TrăsăturăCât de frecvent apare
Abnormal rotation of the kidneysÎntotdeauna
Vesicoureteral refluxÎntotdeauna
Abnormality of the genitourinary systemUneori (5–29%)
Abnormality of the kidneyUneori (5–29%)
Absent uterusUneori (5–29%)
Axial malrotation of the kidneyUneori (5–29%)
Horseshoe kidneyUneori (5–29%)
Dilatation of the renal pelvisRar (1–4%)
Double ureterRar (1–4%)

Abnormality of head or neck

TrăsăturăCât de frecvent apare
Broad foreheadDes (30–79%)
High foreheadDes (30–79%)
Cleft palateUneori (5–29%)
Facial capillary hemangiomaUneori (5–29%)
Little lower jawUneori (5–29%)
Zygomatic flatteningUneori (5–29%)
Broad head shapeNeînregistrat
Nasal tip, upturnedNeînregistrat

Abnormality of the cardiovascular system

TrăsăturăCât de frecvent apare
Narrowing of aortaÎntotdeauna
Abnormal cardiac septum morphologyUneori (5–29%)
Enlarged liver and spleenUneori (5–29%)
Hole in heart wall separating two lower heart chambersUneori (5–29%)
Tetralogy of FallotUneori (5–29%)
An opening in the wall separating the top two chambers of the heartRar (1–4%)
Hole in center of heartRar (1–4%)
Patent ductus arteriosusRar (1–4%)

Abnormality of blood and blood-forming tissues

TrăsăturăCât de frecvent apare
Low number of red blood cells or hemoglobinÎntotdeauna
Prolonged bleeding following circumcisionÎntotdeauna
Abnormality of coagulationFoarte des (80–99%)
Low platelet countFoarte des (80–99%)
Elevated white blood countDes (30–79%)
High blood eosinophil countDes (30–79%)

Abnormality of the musculoskeletal system

TrăsăturăCât de frecvent apare
Abnormality of the shoulderUneori (5–29%)
Cervical ribsUneori (5–29%)
Fused neckUneori (5–29%)
Hook-shaped collarboneUneori (5–29%)
ScoliosisUneori (5–29%)

Abnormality of the eye

TrăsăturăCât de frecvent apare
Clouding of the lens of the eyeÎntotdeauna
Corneal opacityÎntotdeauna
Cross-eyedUneori (5–29%)
Drooping upper eyelidUneori (5–29%)

Abnormality of the digestive system

TrăsăturăCât de frecvent apare
Meckel diverticulumNeînregistrat
Pancreatic cystsNeînregistrat

Abnormality of the ear

TrăsăturăCât de frecvent apare
Ears rotated toward back of headDes (30–79%)
Sensorineural hearing impairmentUneori (5–29%)

Abnormality of the immune system

TrăsăturăCât de frecvent apare
Cow milk allergyDes (30–79%)
Seborrheic dermatitisNeînregistrat

Abnormal cellular phenotype

TrăsăturăCât de frecvent apare
Decreased circulating antibody levelNeînregistrat

Abnormality of the integument

TrăsăturăCât de frecvent apare
Port-wine stain on foreheadUneori (5–29%)

Growth abnormality

TrăsăturăCât de frecvent apare
Short statureUneori (5–29%)

Laboratory abnormality

TrăsăturăCât de frecvent apare
Edema of the dorsum of handsRar (1–4%)

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 RBM8A și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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