Tratti

Tratti collegati a ELN

elastin

La Human Phenotype Ontology collega 312 tratti a ELN, per sistema corporeo: caratteristiche osservate in persone con una delle condizioni rare del gene.

Abnormality of the cardiovascular system

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

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Tratto	Frequenza di osservazione
Abnormal shape of pelvic girdle bone	Molto spesso (80–99%)
Abnormality of connective tissue	Molto spesso (80–99%)
Abnormal curve of the backbone	Spesso (30–79%)
Double-Jointed	Spesso (30–79%)
Flexed joint that cannot be straightened	Spesso (30–79%)
Hernia	Spesso (30–79%)
Hunched back	Spesso (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Spesso (30–79%)
Joint stiffness	Spesso (30–79%)
Kyphoscoliosis	Spesso (30–79%)
Low muscle tone	Spesso (30–79%)
Osteopenia	Spesso (30–79%)
Osteoporosis	Spesso (30–79%)
Prominent swayback	Spesso (30–79%)
Rounded shoulders	Spesso (30–79%)
Abnormal vertebral body morphology	A volte (5–29%)
Abnormality of the sternum	A volte (5–29%)
Delayed bone maturation	A volte (5–29%)
Funnel chest	A volte (5–29%)
Fusion of joints	A volte (5–29%)
Increased bone mineral density	A volte (5–29%)
Muscle tissue disease	A volte (5–29%)
Scoliosis	A volte (5–29%)
Vertebral segmentation defect	A volte (5–29%)
Generalized decreased muscle tone	Non registrato

Abnormality of the genitourinary system

Tratto	Frequenza di osservazione
Abnormality of the bladder	Spesso (30–79%)
Abnormally shaped kidney	Spesso (30–79%)
Bladder diverticulum	Spesso (30–79%)
Frequent urinary tract infections	Spesso (30–79%)
Narrowing of the urethra	Spesso (30–79%)
Pelvic kidney	Spesso (30–79%)
Renal failure	Spesso (30–79%)
Sagging uterus	Spesso (30–79%)
Abnormal tubulointerstitial morphology	A volte (5–29%)
Functional abnormality of male internal genitalia	A volte (5–29%)
Increased calcium level in kidney	A volte (5–29%)
Kidney stone	A volte (5–29%)
Multiple kidney cysts	A volte (5–29%)
Polycystic ovaries	A volte (5–29%)
Pyelonephritis	A volte (5–29%)
Short penis	A volte (5–29%)
Small kidneys	A volte (5–29%)
Underdeveloped penis	A volte (5–29%)
Undescended testes	A volte (5–29%)
Vesicoureteral reflux	A volte (5–29%)
Absent kidney on one side	Raramente (1–4%)
Enuresis	Non registrato

Abnormality of the eye

Tratto	Frequenza di osservazione
Severe farsightedness	Molto spesso (80–99%)
Abnormality of the iris	Spesso (30–79%)
Blue eyes	Spesso (30–79%)
Cross-eyed	Spesso (30–79%)
Nystagmus-induced head nodding	Spesso (30–79%)
Visual impairment	Spesso (30–79%)
Abnormality of refraction	A volte (5–29%)
Abnormality of tear production	A volte (5–29%)
Abnormally close eyes	A volte (5–29%)
Absent/small iris	A volte (5–29%)
Close sighted	A volte (5–29%)
Clouding of the lens of the eye	A volte (5–29%)
Clouding of the lens of the eye at birth	A volte (5–29%)
Corneal opacity	A volte (5–29%)
Drooping upper eyelid	A volte (5–29%)
Enlarged cornea	A volte (5–29%)
Flat cornea	A volte (5–29%)
Glaucoma	A volte (5–29%)
Lazy eye	A volte (5–29%)
Posterior embryotoxon	A volte (5–29%)
Wide-set eyes	A volte (5–29%)

Abnormality of the digestive system

Tratto	Frequenza di osservazione
Abdominal pain	Molto spesso (80–99%)
Acid reflux	Spesso (30–79%)
Colonic diverticula	Spesso (30–79%)
Constipation	Spesso (30–79%)
Feeding difficulties in infancy	Spesso (30–79%)
Inguinal hernia	Spesso (30–79%)
Nausea and vomiting	Spesso (30–79%)
Rectum protrudes through anus	Spesso (30–79%)
Abnormal connection between trachea and esophagus	A volte (5–29%)
Abnormality of the mucous membrane layer of stomach	A volte (5–29%)
Celiac disease	A volte (5–29%)
Extra kidney	A volte (5–29%)
Feeding difficulties	A volte (5–29%)
Gallstones	A volte (5–29%)
Malabsorption	A volte (5–29%)
Small bowel diverticula	A volte (5–29%)
Sore in the lining of gastrointestinal tract	A volte (5–29%)
Umbilical hernia	A volte (5–29%)
Vomiting	Raramente (1–4%)
Chronic constipation	Non registrato

Abnormality of the integument

Tratto	Frequenza di osservazione
Loose redundant skin	Sempre
Fragmented elastic fibers in the dermis	Molto spesso (80–99%)
Hanging skin	Molto spesso (80–99%)
Hyperelastic skin	Molto spesso (80–99%)
Increased number of skin folds	Molto spesso (80–99%)
Premature skin wrinkling	Molto spesso (80–99%)
Abnormal fingernails	Spesso (30–79%)
Premature graying of hair	Spesso (30–79%)
Prematurely aged appearance	Spesso (30–79%)
Small nail	Spesso (30–79%)
Soft skin	Spesso (30–79%)
Spinal dimple	Spesso (30–79%)
Underdeveloped toenails	Spesso (30–79%)
Abnormal fingerprints	A volte (5–29%)
Dermal translucency	A volte (5–29%)
port-wine stain	A volte (5–29%)
Premature aged appearance	Non registrato

Abnormality of limbs

Tratto	Frequenza di osservazione
Bunion	Spesso (30–79%)
Curvature of little finger	Spesso (30–79%)
Dropped arches	Spesso (30–79%)
Knock knees	Spesso (30–79%)
Abnormality of the ankle	A volte (5–29%)
Dislocated kneecap	A volte (5–29%)
Fused forearm bones	A volte (5–29%)
Hip dislocation	A volte (5–29%)
Inward turned thumb	A volte (5–29%)
Long slender fingers	A volte (5–29%)
Back knee	Raramente (1–4%)
Club feet	Raramente (1–4%)
Talipes calcaneovalgus	Raramente (1–4%)

Laboratory abnormality

Tratto	Frequenza di osservazione
High blood calcium levels	Molto spesso (80–99%)
Diabetes mellitus	Spesso (30–79%)
Elevated blood creatine phosphokinase	Spesso (30–79%)
Elevated urine calcium levels	Spesso (30–79%)
High urine protein levels	Spesso (30–79%)
Abnormal circulating lipid concentration	A volte (5–29%)
Deficient in vitamin D	A volte (5–29%)
Noninsulin-dependent diabetes	A volte (5–29%)
Food intolerance	Non registrato
Glucose intolerance	Non registrato

Abnormality of the ear

Tratto	Frequenza di osservazione
Ears rotated toward back of head	Molto spesso (80–99%)
Large ears	Molto spesso (80–99%)
Prominent ear	Molto spesso (80–99%)
Chronic infections of the middle ear	Spesso (30–79%)
Large earlobe	Spesso (30–79%)
Recurrent middle ear infection	Spesso (30–79%)
Sensorineural hearing impairment	Spesso (30–79%)
Low-set ears	A volte (5–29%)

Abnormality of the respiratory system

Tratto	Frequenza di osservazione
Breathing difficulty	Spesso (30–79%)
Emphysema	Spesso (30–79%)
Exertional breathlessness	Spesso (30–79%)
Paroxysmal dyspnea	Spesso (30–79%)
Permanent enlargement of the airways of the lungs	Spesso (30–79%)
Collapsed lung	A volte (5–29%)
Coughing up blood	A volte (5–29%)

Growth abnormality

Tratto	Frequenza di osservazione
Faltering weight in infancy	Molto spesso (80–99%)
Short stature	Molto spesso (80–99%)
Obesity	Spesso (30–79%)
Growth delay as children	A volte (5–29%)
Prenatal growth deficiency	A volte (5–29%)
Tall stature	A volte (5–29%)

Abnormality of the endocrine system

Tratto	Frequenza di osservazione
Early onset of sexual maturation	Spesso (30–79%)
Early onset of puberty	A volte (5–29%)
Hypogonadotropic hypogonadism	A volte (5–29%)
Underactive thyroid	A volte (5–29%)

Abnormality of the voice

Tratto	Frequenza di osservazione
Abnormality of the voice	Molto spesso (80–99%)
Hoarse voice	Molto spesso (80–99%)
Inability to produce voice sounds	A volte (5–29%)

Constitutional symptom

Tratto	Frequenza di osservazione
Chest pain	Spesso (30–79%)
Joint pain	Spesso (30–79%)
Sudden death	Raramente (1–4%)

Abnormality of blood and blood-forming tissues

Tratto	Frequenza di osservazione
Bruising susceptibility	A volte (5–29%)
Subarachnoid hemorrhage	A volte (5–29%)

Abnormality of the immune system

Tratto	Frequenza di osservazione
Recurrent respiratory infections	A volte (5–29%)
Unusual bronchiolitis	A volte (5–29%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

Human Phenotype Ontology, versione 2026-09-01: i tratti collegati a ELN e la frequenza con cui ciascuno viene osservato. Per saperne di più visiti hpo.jax.org.

Un solo test. Risposte per tutta la vita.

A partire da 449 $Spedizione gratuita · Risultati in 6–8 settimane

Ottieni il mio Genome Test