Trăsături

Trăsături asociate cu IPO8

importin 8

Human Phenotype Ontology asociază 135 trăsături cu IPO8, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Aortic tortuosity	Întotdeauna
Arterial tortuosity	Întotdeauna
Bulging of wall of large artery located above heart	Întotdeauna
Aneurysm	Foarte des (80–99%)
Arterial dissection	Foarte des (80–99%)
Bulge in wall of large artery that carries blood away from heart	Foarte des (80–99%)
Bulge in wall of root of large artery that carries blood away from heart	Foarte des (80–99%)
Patent ductus arteriosus	Foarte des (80–99%)
Tear in inner wall of large artery that carries blood away from heart	Foarte des (80–99%)
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
Carotid artery tortuosity	Des (30–79%)
Hole in heart wall separating two lower heart chambers	Des (30–79%)
Abnormal branching pattern of the aortic arch	Uneori (5–29%)
Brain aneurysm	Uneori (5–29%)
Carotid artery dilatation	Uneori (5–29%)
Coronary sinus enlargement	Uneori (5–29%)
Double outlet right ventricle	Uneori (5–29%)
Heart stops beating	Uneori (5–29%)
Iliac artery aneurysm	Uneori (5–29%)
Increased blood pressure in blood vessels of lungs	Uneori (5–29%)
Left aortic arch with retroesophageal right subclavian artery	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Mitral valve prolapse	Uneori (5–29%)
Patent foramen ovale	Uneori (5–29%)
Prominent superficial blood vessels	Uneori (5–29%)
Pulmonary artery aneurysm	Uneori (5–29%)
Right ventricular dilatation	Uneori (5–29%)
Right ventricular hypertrophy	Uneori (5–29%)
Twisted cerebral arteries	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Receding chin	Foarte des (80–99%)
Bifid uvula	Des (30–79%)
Cleft of the mouth	Des (30–79%)
Cleft palate	Des (30–79%)
Deformity of the skull	Des (30–79%)
Frontal bossing	Des (30–79%)
High palate	Des (30–79%)
Little lower jaw	Des (30–79%)
Long, narrow head	Des (30–79%)
Zygomatic flattening	Des (30–79%)
Abnormally large tongue	Uneori (5–29%)
Abnormally small head	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
Broad opening between the eyelids	Uneori (5–29%)
Broad uvula	Uneori (5–29%)
Cleft soft palate	Uneori (5–29%)
Cleft tongue	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Everted eyelid	Uneori (5–29%)
High, narrow palate	Uneori (5–29%)
Prominent nasal bridge	Uneori (5–29%)
Small retruded chin	Uneori (5–29%)
Sparse scalp hair	Uneori (5–29%)
Submucous cleft soft palate	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Inguinal hernia	Des (30–79%)
Umbilical hernia	Des (30–79%)
Abdominal bloating	Uneori (5–29%)
Abnormal stomach location	Uneori (5–29%)
Acid reflux	Uneori (5–29%)
Celiac disease	Uneori (5–29%)
Chronic constipation	Uneori (5–29%)
Chronic diarrhea	Uneori (5–29%)
Chronic gastritis	Uneori (5–29%)
Duodenitis	Uneori (5–29%)
Eosinophilic infiltration of the esophagus	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)
Intestinal malrotation	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Foarte des (80–99%)
Double-Jointed	Des (30–79%)
Funnel chest	Des (30–79%)
Recurrent joint dislocation	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Butterfly vertebrae	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Hypermobility of all joints	Uneori (5–29%)
Joint dislocation	Uneori (5–29%)
Pigeon chest	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Dropped arches	Foarte des (80–99%)
Club feet	Des (30–79%)
Long slender fingers	Des (30–79%)
Permanent flexion of the finger	Des (30–79%)
Contracture of the proximal interphalangeal joint of the 2nd toe	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Long toe	Uneori (5–29%)
Rocker bottom foot	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Blue outer white part of eyeball	Des (30–79%)
Bulging eye	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Severe near sightedness	Des (30–79%)
Wide-set eyes	Des (30–79%)
Close sighted	Uneori (5–29%)
Deeply set eye	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Retinal detachment	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Atypical scarring of skin	Des (30–79%)
Hyperelastic skin	Des (30–79%)
Stretch marks	Des (30–79%)
Excessive hairiness	Uneori (5–29%)
Hair loss	Uneori (5–29%)
Hanging skin	Uneori (5–29%)
Thin skin	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Cupped ear	Uneori (5–29%)
Ears rotated toward back of head	Uneori (5–29%)
Exostosis of the external auditory canal	Uneori (5–29%)
Large ears	Uneori (5–29%)
Low-set ears	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Severely increased total eosinophil count	Foarte des (80–99%)
Bleeding tendency	Uneori (5–29%)
Bruising susceptibility	Uneori (5–29%)
Epidural hemorrhage	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Asthma	Des (30–79%)
Eczema	Des (30–79%)
Baby eczema	Uneori (5–29%)
Drug allergy	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Motor delay	Întotdeauna
Global developmental delay	Des (30–79%)
Intellectual disability	Des (30–79%)
Loss of developmental milestones	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulty	Uneori (5–29%)
Collapsed lung	Uneori (5–29%)
Emphysema	Uneori (5–29%)
Spontaneous collapsed lung	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Increased circulating IgE concentration	Întotdeauna
Increased circulating IgG concentration	Întotdeauna
Decreased circulating IgA concentration	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Tall stature	Des (30–79%)
Short stature	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Fetal distress	Uneori (5–29%)
High levels of amniotic fluid	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Uterine rupture	Foarte des (80–99%)
Hydronephrosis	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Underactive thyroid	Uneori (5–29%)

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 IPO8 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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