Trăsături

Trăsături asociate cu ELN

elastin

Human Phenotype Ontology asociază 312 trăsături cu ELN, 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
Narrowing of peripheral lung artery	Întotdeauna
Abnormal heart rate	Foarte des (80–99%)
Abnormality of the cardiovascular system	Foarte des (80–99%)
Cutis marmorata	Foarte des (80–99%)
Mucoid extracellular matrix accumulation	Foarte des (80–99%)
Supravalvular aortic stenosis	Foarte des (80–99%)
Abnormal left ventricular function	Des (30–79%)
Abnormality of the cerebral blood vessels	Des (30–79%)
Angina pectoris	Des (30–79%)
Aortic regurgitation	Des (30–79%)
Ascending aortic dissection	Des (30–79%)
Bulge in wall of large artery that carries blood away from heart	Des (30–79%)
Cardiac failure	Des (30–79%)
Descending aortic dissection	Des (30–79%)
Disruption of blood oxygen supply to brain	Des (30–79%)
Enlarged heart	Des (30–79%)
Fainting spell	Des (30–79%)
High blood pressure	Des (30–79%)
Hole in heart wall separating two lower heart chambers	Des (30–79%)
Mitral regurgitation	Des (30–79%)
Mitral valve prolapse	Des (30–79%)
Narrowing of an artery	Des (30–79%)
Narrowing of coronary artery	Des (30–79%)
Narrowing of pulmonic valve	Des (30–79%)
Plaque build-up in arteries supplying blood to heart	Des (30–79%)
Renovascular hypertension	Des (30–79%)
Stroke	Des (30–79%)
Systolic heart murmur	Des (30–79%)
Abdominal aortic aneurysm	Uneori (5–29%)
Abnormal cardiac septum morphology	Uneori (5–29%)
Abnormal carotid artery morphology	Uneori (5–29%)
Abnormal endocardium morphology	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Aortic arch aneurysm	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Brain aneurysm	Uneori (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Uneori (5–29%)
Carotid artery dilatation	Uneori (5–29%)
Depleted blood volume	Uneori (5–29%)
Descending thoracic aorta aneurysm	Uneori (5–29%)
Dilatation of the ventricular cavity	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
Heart attack	Uneori (5–29%)
Ischemic stroke	Uneori (5–29%)
Mini stroke	Uneori (5–29%)
Myxomatous mitral valve degeneration	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Narrowing of kidney artery	Uneori (5–29%)
Overriding aorta	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Peripheral arterial stenosis	Uneori (5–29%)
Portal hypertension	Uneori (5–29%)
Sudden cardiac death	Uneori (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)
Narrowing of lung artery	Neînregistrat

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the bladder	Des (30–79%)
Abnormally shaped kidney	Des (30–79%)
Bladder diverticulum	Des (30–79%)
Frequent urinary tract infections	Des (30–79%)
Narrowing of the urethra	Des (30–79%)
Pelvic kidney	Des (30–79%)
Renal failure	Des (30–79%)
Sagging uterus	Des (30–79%)
Abnormal tubulointerstitial morphology	Uneori (5–29%)
Functional abnormality of male internal genitalia	Uneori (5–29%)
Increased calcium level in kidney	Uneori (5–29%)
Kidney stone	Uneori (5–29%)
Multiple kidney cysts	Uneori (5–29%)
Polycystic ovaries	Uneori (5–29%)
Pyelonephritis	Uneori (5–29%)
Short penis	Uneori (5–29%)
Small kidneys	Uneori (5–29%)
Underdeveloped penis	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)
Absent kidney on one side	Rar (1–4%)
Enuresis	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Severe farsightedness	Foarte des (80–99%)
Abnormality of the iris	Des (30–79%)
Blue eyes	Des (30–79%)
Cross-eyed	Des (30–79%)
Nystagmus-induced head nodding	Des (30–79%)
Visual impairment	Des (30–79%)
Abnormality of refraction	Uneori (5–29%)
Abnormality of tear production	Uneori (5–29%)
Abnormally close eyes	Uneori (5–29%)
Absent/small iris	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Clouding of the lens of the eye at birth	Uneori (5–29%)
Corneal opacity	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Enlarged cornea	Uneori (5–29%)
Flat cornea	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Lazy eye	Uneori (5–29%)
Posterior embryotoxon	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abdominal pain	Foarte des (80–99%)
Acid reflux	Des (30–79%)
Colonic diverticula	Des (30–79%)
Constipation	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Inguinal hernia	Des (30–79%)
Nausea and vomiting	Des (30–79%)
Rectum protrudes through anus	Des (30–79%)
Abnormal connection between trachea and esophagus	Uneori (5–29%)
Abnormality of the mucous membrane layer of stomach	Uneori (5–29%)
Celiac disease	Uneori (5–29%)
Extra kidney	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)
Gallstones	Uneori (5–29%)
Malabsorption	Uneori (5–29%)
Small bowel diverticula	Uneori (5–29%)
Sore in the lining of gastrointestinal tract	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)
Vomiting	Rar (1–4%)
Chronic constipation	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Loose redundant skin	Întotdeauna
Fragmented elastic fibers in the dermis	Foarte des (80–99%)
Hanging skin	Foarte des (80–99%)
Hyperelastic skin	Foarte des (80–99%)
Increased number of skin folds	Foarte des (80–99%)
Premature skin wrinkling	Foarte des (80–99%)
Abnormal fingernails	Des (30–79%)
Premature graying of hair	Des (30–79%)
Prematurely aged appearance	Des (30–79%)
Small nail	Des (30–79%)
Soft skin	Des (30–79%)
Spinal dimple	Des (30–79%)
Underdeveloped toenails	Des (30–79%)
Abnormal fingerprints	Uneori (5–29%)
Dermal translucency	Uneori (5–29%)
port-wine stain	Uneori (5–29%)
Premature aged appearance	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Bunion	Des (30–79%)
Curvature of little finger	Des (30–79%)
Dropped arches	Des (30–79%)
Knock knees	Des (30–79%)
Abnormality of the ankle	Uneori (5–29%)
Dislocated kneecap	Uneori (5–29%)
Fused forearm bones	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Inward turned thumb	Uneori (5–29%)
Long slender fingers	Uneori (5–29%)
Back knee	Rar (1–4%)
Club feet	Rar (1–4%)
Talipes calcaneovalgus	Rar (1–4%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High blood calcium levels	Foarte des (80–99%)
Diabetes mellitus	Des (30–79%)
Elevated blood creatine phosphokinase	Des (30–79%)
Elevated urine calcium levels	Des (30–79%)
High urine protein levels	Des (30–79%)
Abnormal circulating lipid concentration	Uneori (5–29%)
Deficient in vitamin D	Uneori (5–29%)
Noninsulin-dependent diabetes	Uneori (5–29%)
Food intolerance	Neînregistrat
Glucose intolerance	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Foarte des (80–99%)
Large ears	Foarte des (80–99%)
Prominent ear	Foarte des (80–99%)
Chronic infections of the middle ear	Des (30–79%)
Large earlobe	Des (30–79%)
Recurrent middle ear infection	Des (30–79%)
Sensorineural hearing impairment	Des (30–79%)
Low-set ears	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulty	Des (30–79%)
Emphysema	Des (30–79%)
Exertional breathlessness	Des (30–79%)
Paroxysmal dyspnea	Des (30–79%)
Permanent enlargement of the airways of the lungs	Des (30–79%)
Collapsed lung	Uneori (5–29%)
Coughing up blood	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight in infancy	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Obesity	Des (30–79%)
Growth delay as children	Uneori (5–29%)
Prenatal growth deficiency	Uneori (5–29%)
Tall stature	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of sexual maturation	Des (30–79%)
Early onset of puberty	Uneori (5–29%)
Hypogonadotropic hypogonadism	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Abnormality of the voice	Foarte des (80–99%)
Hoarse voice	Foarte des (80–99%)
Inability to produce voice sounds	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chest pain	Des (30–79%)
Joint pain	Des (30–79%)
Sudden death	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bruising susceptibility	Uneori (5–29%)
Subarachnoid hemorrhage	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Uneori (5–29%)
Unusual bronchiolitis	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 ELN și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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