Požymiai

Su IPO8 susiję požymiai

importin 8

Žmogaus fenotipo ontologija sieja 135 požymių su IPO8, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the cardiovascular system

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

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Receding chin	Labai dažnai (80–99%)
Bifid uvula	Dažnai (30–79%)
Cleft of the mouth	Dažnai (30–79%)
Cleft palate	Dažnai (30–79%)
Deformity of the skull	Dažnai (30–79%)
Frontal bossing	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Long, narrow head	Dažnai (30–79%)
Zygomatic flattening	Dažnai (30–79%)
Abnormally large tongue	Kartais (5–29%)
Abnormally small head	Kartais (5–29%)
Broad head shape	Kartais (5–29%)
Broad opening between the eyelids	Kartais (5–29%)
Broad uvula	Kartais (5–29%)
Cleft soft palate	Kartais (5–29%)
Cleft tongue	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Everted eyelid	Kartais (5–29%)
High, narrow palate	Kartais (5–29%)
Prominent nasal bridge	Kartais (5–29%)
Small retruded chin	Kartais (5–29%)
Sparse scalp hair	Kartais (5–29%)
Submucous cleft soft palate	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Inguinal hernia	Dažnai (30–79%)
Umbilical hernia	Dažnai (30–79%)
Abdominal bloating	Kartais (5–29%)
Abnormal stomach location	Kartais (5–29%)
Acid reflux	Kartais (5–29%)
Celiac disease	Kartais (5–29%)
Chronic constipation	Kartais (5–29%)
Chronic diarrhea	Kartais (5–29%)
Chronic gastritis	Kartais (5–29%)
Duodenitis	Kartais (5–29%)
Eosinophilic infiltration of the esophagus	Kartais (5–29%)
Feeding difficulties	Kartais (5–29%)
Intestinal malrotation	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Labai dažnai (80–99%)
Double-Jointed	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Recurrent joint dislocation	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Butterfly vertebrae	Kartais (5–29%)
Hunched back	Kartais (5–29%)
Hypermobility of all joints	Kartais (5–29%)
Joint dislocation	Kartais (5–29%)
Pigeon chest	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Dropped arches	Labai dažnai (80–99%)
Club feet	Dažnai (30–79%)
Long slender fingers	Dažnai (30–79%)
Permanent flexion of the finger	Dažnai (30–79%)
Contracture of the proximal interphalangeal joint of the 2nd toe	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Knock knees	Kartais (5–29%)
Long toe	Kartais (5–29%)
Rocker bottom foot	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Blue outer white part of eyeball	Dažnai (30–79%)
Bulging eye	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Severe near sightedness	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Close sighted	Kartais (5–29%)
Deeply set eye	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Retinal detachment	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Atypical scarring of skin	Dažnai (30–79%)
Hyperelastic skin	Dažnai (30–79%)
Stretch marks	Dažnai (30–79%)
Excessive hairiness	Kartais (5–29%)
Hair loss	Kartais (5–29%)
Hanging skin	Kartais (5–29%)
Thin skin	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Cupped ear	Kartais (5–29%)
Ears rotated toward back of head	Kartais (5–29%)
Exostosis of the external auditory canal	Kartais (5–29%)
Large ears	Kartais (5–29%)
Low-set ears	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Severely increased total eosinophil count	Labai dažnai (80–99%)
Bleeding tendency	Kartais (5–29%)
Bruising susceptibility	Kartais (5–29%)
Epidural hemorrhage	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Asthma	Dažnai (30–79%)
Eczema	Dažnai (30–79%)
Baby eczema	Kartais (5–29%)
Drug allergy	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Motor delay	Visada
Global developmental delay	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Loss of developmental milestones	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulty	Kartais (5–29%)
Collapsed lung	Kartais (5–29%)
Emphysema	Kartais (5–29%)
Spontaneous collapsed lung	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Increased circulating IgE concentration	Visada
Increased circulating IgG concentration	Visada
Decreased circulating IgA concentration	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Tall stature	Dažnai (30–79%)
Short stature	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Fetal distress	Kartais (5–29%)
High levels of amniotic fluid	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Uterine rupture	Labai dažnai (80–99%)
Hydronephrosis	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Underactive thyroid	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su IPO8 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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