Požymiai

Su ELN susiję požymiai

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Žmogaus fenotipo ontologija sieja 312 požymių su ELN, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Narrowing of peripheral lung artery	Visada
Abnormal heart rate	Labai dažnai (80–99%)
Abnormality of the cardiovascular system	Labai dažnai (80–99%)
Cutis marmorata	Labai dažnai (80–99%)
Mucoid extracellular matrix accumulation	Labai dažnai (80–99%)
Supravalvular aortic stenosis	Labai dažnai (80–99%)
Abnormal left ventricular function	Dažnai (30–79%)
Abnormality of the cerebral blood vessels	Dažnai (30–79%)
Angina pectoris	Dažnai (30–79%)
Aortic regurgitation	Dažnai (30–79%)
Ascending aortic dissection	Dažnai (30–79%)
Bulge in wall of large artery that carries blood away from heart	Dažnai (30–79%)
Cardiac failure	Dažnai (30–79%)
Descending aortic dissection	Dažnai (30–79%)
Disruption of blood oxygen supply to brain	Dažnai (30–79%)
Enlarged heart	Dažnai (30–79%)
Fainting spell	Dažnai (30–79%)
High blood pressure	Dažnai (30–79%)
Hole in heart wall separating two lower heart chambers	Dažnai (30–79%)
Mitral regurgitation	Dažnai (30–79%)
Mitral valve prolapse	Dažnai (30–79%)
Narrowing of an artery	Dažnai (30–79%)
Narrowing of coronary artery	Dažnai (30–79%)
Narrowing of pulmonic valve	Dažnai (30–79%)
Plaque build-up in arteries supplying blood to heart	Dažnai (30–79%)
Renovascular hypertension	Dažnai (30–79%)
Stroke	Dažnai (30–79%)
Systolic heart murmur	Dažnai (30–79%)
Abdominal aortic aneurysm	Kartais (5–29%)
Abnormal cardiac septum morphology	Kartais (5–29%)
Abnormal carotid artery morphology	Kartais (5–29%)
Abnormal endocardium morphology	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Aortic arch aneurysm	Kartais (5–29%)
Aortic valve has two leaflets rather than three	Kartais (5–29%)
Brain aneurysm	Kartais (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Kartais (5–29%)
Carotid artery dilatation	Kartais (5–29%)
Depleted blood volume	Kartais (5–29%)
Descending thoracic aorta aneurysm	Kartais (5–29%)
Dilatation of the ventricular cavity	Kartais (5–29%)
Enlarged and thickened heart muscle	Kartais (5–29%)
Heart attack	Kartais (5–29%)
Ischemic stroke	Kartais (5–29%)
Mini stroke	Kartais (5–29%)
Myxomatous mitral valve degeneration	Kartais (5–29%)
Narrowing of aorta	Kartais (5–29%)
Narrowing of kidney artery	Kartais (5–29%)
Overriding aorta	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Peripheral arterial stenosis	Kartais (5–29%)
Portal hypertension	Kartais (5–29%)
Sudden cardiac death	Kartais (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Kartais (5–29%)
Tetralogy of Fallot	Kartais (5–29%)
Narrowing of lung artery	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormality of the neck	Labai dažnai (80–99%)
Abnormally large tongue	Labai dažnai (80–99%)
Broad forehead	Labai dažnai (80–99%)
Coarse facial features	Labai dažnai (80–99%)
Drooping lower lip	Labai dažnai (80–99%)
Elf-like facial appearance	Labai dažnai (80–99%)
Eye folds	Labai dažnai (80–99%)
Full lower lip	Labai dažnai (80–99%)
High forehead	Labai dažnai (80–99%)
Little lower jaw	Labai dažnai (80–99%)
Long philtrum	Labai dažnai (80–99%)
Narrow face	Labai dažnai (80–99%)
Narrow opening between the eyelids	Labai dažnai (80–99%)
Open bite	Labai dažnai (80–99%)
Periorbital edema	Labai dažnai (80–99%)
Pointed chin	Labai dažnai (80–99%)
Short nose	Labai dažnai (80–99%)
Wide mouth	Labai dažnai (80–99%)
Wide nasal bridge	Labai dažnai (80–99%)
Abnormal facial shape	Dažnai (30–79%)
Abnormal tooth enamel	Dažnai (30–79%)
Abnormality of dental shape	Dažnai (30–79%)
Abnormally small head	Dažnai (30–79%)
Bad bite	Dažnai (30–79%)
Beaked nose	Dažnai (30–79%)
Broad nasal tip	Dažnai (30–79%)
Cheekbone underdevelopment	Dažnai (30–79%)
Decreased size of tooth	Dažnai (30–79%)
Depressed nasal bridge	Dažnai (30–79%)
Failure of development of between one and six teeth	Dažnai (30–79%)
Full cheeks	Dažnai (30–79%)
Fullness around the eyes	Dažnai (30–79%)
Medial flaring of the eyebrow	Dažnai (30–79%)
Narrow forehead	Dažnai (30–79%)
Nasal tip, upturned	Dažnai (30–79%)
Open mouth	Dažnai (30–79%)
Delayed cranial suture closure	Kartais (5–29%)
Dental cavities	Kartais (5–29%)
Gum enlargement	Kartais (5–29%)
High, narrow palate	Kartais (5–29%)
Increased nuchal translucency	Kartais (5–29%)
Prominent forehead	Kartais (5–29%)
Receding chin	Kartais (5–29%)
Redundant neck skin	Kartais (5–29%)
Retinal arteriolar tortuosity	Kartais (5–29%)
Triangular face	Kartais (5–29%)
Zygomatic flattening	Kartais (5–29%)
Extra bones within cranial sutures	Retai (1–4 %)
Little foramen magnum	Retai (1–4 %)
Midface retrusion	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal gait	Labai dažnai (80–99%)
Abnormal shape of nervous system	Labai dažnai (80–99%)
Abnormal social behavior	Labai dažnai (80–99%)
Abnormal speech pattern	Labai dažnai (80–99%)
Abnormality of balance	Labai dažnai (80–99%)
Abnormality of extrapyramidal motor function	Labai dažnai (80–99%)
Anxiety	Labai dažnai (80–99%)
Ataxia	Labai dažnai (80–99%)
Depression	Labai dažnai (80–99%)
Dysgraphia	Labai dažnai (80–99%)
Fear of loud sounds	Labai dažnai (80–99%)
Hyperacusis	Labai dažnai (80–99%)
Increased reflexes	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Involuntary movements	Labai dažnai (80–99%)
Lack of coordination of movement	Labai dažnai (80–99%)
Overfriendliness	Labai dažnai (80–99%)
Tremor	Labai dažnai (80–99%)
Attention deficit	Dažnai (30–79%)
Autism	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Difficulty staying or falling asleep	Dažnai (30–79%)
Impaired visuospatial constructive cognition	Dažnai (30–79%)
Incoordination	Dažnai (30–79%)
Obsessive compulsive behavior	Dažnai (30–79%)
Short attention span	Dažnai (30–79%)
Abnormal diencephalon morphology	Kartais (5–29%)
Atrophy/Degeneration involving the corticospinal tracts	Kartais (5–29%)
Brisk reflexes	Kartais (5–29%)
Chiari malformation	Kartais (5–29%)
Chiari type I malformation	Kartais (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Difficulty sleeping	Kartais (5–29%)
Dural ectasia	Kartais (5–29%)
Global developmental delay	Kartais (5–29%)
Inability to move vocal cords	Kartais (5–29%)
Loss of developmental milestones	Kartais (5–29%)
Motor delay	Kartais (5–29%)
Small cerebellum	Kartais (5–29%)
Spina bifida occulta	Kartais (5–29%)
Autism spectrum disorder	Retai (1–4 %)
Obsessive-compulsive trait	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormal shape of pelvic girdle bone	Labai dažnai (80–99%)
Abnormality of connective tissue	Labai dažnai (80–99%)
Abnormal curve of the backbone	Dažnai (30–79%)
Double-Jointed	Dažnai (30–79%)
Flexed joint that cannot be straightened	Dažnai (30–79%)
Hernia	Dažnai (30–79%)
Hunched back	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Joint stiffness	Dažnai (30–79%)
Kyphoscoliosis	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Osteopenia	Dažnai (30–79%)
Osteoporosis	Dažnai (30–79%)
Prominent swayback	Dažnai (30–79%)
Rounded shoulders	Dažnai (30–79%)
Abnormal vertebral body morphology	Kartais (5–29%)
Abnormality of the sternum	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Fusion of joints	Kartais (5–29%)
Increased bone mineral density	Kartais (5–29%)
Muscle tissue disease	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Vertebral segmentation defect	Kartais (5–29%)
Generalized decreased muscle tone	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the bladder	Dažnai (30–79%)
Abnormally shaped kidney	Dažnai (30–79%)
Bladder diverticulum	Dažnai (30–79%)
Frequent urinary tract infections	Dažnai (30–79%)
Narrowing of the urethra	Dažnai (30–79%)
Pelvic kidney	Dažnai (30–79%)
Renal failure	Dažnai (30–79%)
Sagging uterus	Dažnai (30–79%)
Abnormal tubulointerstitial morphology	Kartais (5–29%)
Functional abnormality of male internal genitalia	Kartais (5–29%)
Increased calcium level in kidney	Kartais (5–29%)
Kidney stone	Kartais (5–29%)
Multiple kidney cysts	Kartais (5–29%)
Polycystic ovaries	Kartais (5–29%)
Pyelonephritis	Kartais (5–29%)
Short penis	Kartais (5–29%)
Small kidneys	Kartais (5–29%)
Underdeveloped penis	Kartais (5–29%)
Undescended testes	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)
Absent kidney on one side	Retai (1–4 %)
Enuresis	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Severe farsightedness	Labai dažnai (80–99%)
Abnormality of the iris	Dažnai (30–79%)
Blue eyes	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Nystagmus-induced head nodding	Dažnai (30–79%)
Visual impairment	Dažnai (30–79%)
Abnormality of refraction	Kartais (5–29%)
Abnormality of tear production	Kartais (5–29%)
Abnormally close eyes	Kartais (5–29%)
Absent/small iris	Kartais (5–29%)
Close sighted	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Clouding of the lens of the eye at birth	Kartais (5–29%)
Corneal opacity	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Enlarged cornea	Kartais (5–29%)
Flat cornea	Kartais (5–29%)
Glaucoma	Kartais (5–29%)
Lazy eye	Kartais (5–29%)
Posterior embryotoxon	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abdominal pain	Labai dažnai (80–99%)
Acid reflux	Dažnai (30–79%)
Colonic diverticula	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Feeding difficulties in infancy	Dažnai (30–79%)
Inguinal hernia	Dažnai (30–79%)
Nausea and vomiting	Dažnai (30–79%)
Rectum protrudes through anus	Dažnai (30–79%)
Abnormal connection between trachea and esophagus	Kartais (5–29%)
Abnormality of the mucous membrane layer of stomach	Kartais (5–29%)
Celiac disease	Kartais (5–29%)
Extra kidney	Kartais (5–29%)
Feeding difficulties	Kartais (5–29%)
Gallstones	Kartais (5–29%)
Malabsorption	Kartais (5–29%)
Small bowel diverticula	Kartais (5–29%)
Sore in the lining of gastrointestinal tract	Kartais (5–29%)
Umbilical hernia	Kartais (5–29%)
Vomiting	Retai (1–4 %)
Chronic constipation	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Loose redundant skin	Visada
Fragmented elastic fibers in the dermis	Labai dažnai (80–99%)
Hanging skin	Labai dažnai (80–99%)
Hyperelastic skin	Labai dažnai (80–99%)
Increased number of skin folds	Labai dažnai (80–99%)
Premature skin wrinkling	Labai dažnai (80–99%)
Abnormal fingernails	Dažnai (30–79%)
Premature graying of hair	Dažnai (30–79%)
Prematurely aged appearance	Dažnai (30–79%)
Small nail	Dažnai (30–79%)
Soft skin	Dažnai (30–79%)
Spinal dimple	Dažnai (30–79%)
Underdeveloped toenails	Dažnai (30–79%)
Abnormal fingerprints	Kartais (5–29%)
Dermal translucency	Kartais (5–29%)
port-wine stain	Kartais (5–29%)
Premature aged appearance	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Bunion	Dažnai (30–79%)
Curvature of little finger	Dažnai (30–79%)
Dropped arches	Dažnai (30–79%)
Knock knees	Dažnai (30–79%)
Abnormality of the ankle	Kartais (5–29%)
Dislocated kneecap	Kartais (5–29%)
Fused forearm bones	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Inward turned thumb	Kartais (5–29%)
Long slender fingers	Kartais (5–29%)
Back knee	Retai (1–4 %)
Club feet	Retai (1–4 %)
Talipes calcaneovalgus	Retai (1–4 %)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High blood calcium levels	Labai dažnai (80–99%)
Diabetes mellitus	Dažnai (30–79%)
Elevated blood creatine phosphokinase	Dažnai (30–79%)
Elevated urine calcium levels	Dažnai (30–79%)
High urine protein levels	Dažnai (30–79%)
Abnormal circulating lipid concentration	Kartais (5–29%)
Deficient in vitamin D	Kartais (5–29%)
Noninsulin-dependent diabetes	Kartais (5–29%)
Food intolerance	Neužfiksuota
Glucose intolerance	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Labai dažnai (80–99%)
Large ears	Labai dažnai (80–99%)
Prominent ear	Labai dažnai (80–99%)
Chronic infections of the middle ear	Dažnai (30–79%)
Large earlobe	Dažnai (30–79%)
Recurrent middle ear infection	Dažnai (30–79%)
Sensorineural hearing impairment	Dažnai (30–79%)
Low-set ears	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulty	Dažnai (30–79%)
Emphysema	Dažnai (30–79%)
Exertional breathlessness	Dažnai (30–79%)
Paroxysmal dyspnea	Dažnai (30–79%)
Permanent enlargement of the airways of the lungs	Dažnai (30–79%)
Collapsed lung	Kartais (5–29%)
Coughing up blood	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight in infancy	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Obesity	Dažnai (30–79%)
Growth delay as children	Kartais (5–29%)
Prenatal growth deficiency	Kartais (5–29%)
Tall stature	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Early onset of sexual maturation	Dažnai (30–79%)
Early onset of puberty	Kartais (5–29%)
Hypogonadotropic hypogonadism	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Abnormality of the voice	Labai dažnai (80–99%)
Hoarse voice	Labai dažnai (80–99%)
Inability to produce voice sounds	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Chest pain	Dažnai (30–79%)
Joint pain	Dažnai (30–79%)
Sudden death	Retai (1–4 %)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bruising susceptibility	Kartais (5–29%)
Subarachnoid hemorrhage	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent respiratory infections	Kartais (5–29%)
Unusual bronchiolitis	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 ELN susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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