Özellikler

ELN ile ilişkili özellikler

elastin

Human Phenotype Ontology, ELN ile ilişkili 312 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

Abnormality of the cardiovascular system

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

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Abnormality of the bladder	Sık (%30–79)
Abnormally shaped kidney	Sık (%30–79)
Bladder diverticulum	Sık (%30–79)
Frequent urinary tract infections	Sık (%30–79)
Narrowing of the urethra	Sık (%30–79)
Pelvic kidney	Sık (%30–79)
Renal failure	Sık (%30–79)
Sagging uterus	Sık (%30–79)
Abnormal tubulointerstitial morphology	Bazen (%5–29)
Functional abnormality of male internal genitalia	Bazen (%5–29)
Increased calcium level in kidney	Bazen (%5–29)
Kidney stone	Bazen (%5–29)
Multiple kidney cysts	Bazen (%5–29)
Polycystic ovaries	Bazen (%5–29)
Pyelonephritis	Bazen (%5–29)
Short penis	Bazen (%5–29)
Small kidneys	Bazen (%5–29)
Underdeveloped penis	Bazen (%5–29)
Undescended testes	Bazen (%5–29)
Vesicoureteral reflux	Bazen (%5–29)
Absent kidney on one side	Seyrek (%1–4)
Enuresis	Kaydedilmedi

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Severe farsightedness	Çok sık (%80–99)
Abnormality of the iris	Sık (%30–79)
Blue eyes	Sık (%30–79)
Cross-eyed	Sık (%30–79)
Nystagmus-induced head nodding	Sık (%30–79)
Visual impairment	Sık (%30–79)
Abnormality of refraction	Bazen (%5–29)
Abnormality of tear production	Bazen (%5–29)
Abnormally close eyes	Bazen (%5–29)
Absent/small iris	Bazen (%5–29)
Close sighted	Bazen (%5–29)
Clouding of the lens of the eye	Bazen (%5–29)
Clouding of the lens of the eye at birth	Bazen (%5–29)
Corneal opacity	Bazen (%5–29)
Drooping upper eyelid	Bazen (%5–29)
Enlarged cornea	Bazen (%5–29)
Flat cornea	Bazen (%5–29)
Glaucoma	Bazen (%5–29)
Lazy eye	Bazen (%5–29)
Posterior embryotoxon	Bazen (%5–29)
Wide-set eyes	Bazen (%5–29)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Abdominal pain	Çok sık (%80–99)
Acid reflux	Sık (%30–79)
Colonic diverticula	Sık (%30–79)
Constipation	Sık (%30–79)
Feeding difficulties in infancy	Sık (%30–79)
Inguinal hernia	Sık (%30–79)
Nausea and vomiting	Sık (%30–79)
Rectum protrudes through anus	Sık (%30–79)
Abnormal connection between trachea and esophagus	Bazen (%5–29)
Abnormality of the mucous membrane layer of stomach	Bazen (%5–29)
Celiac disease	Bazen (%5–29)
Extra kidney	Bazen (%5–29)
Feeding difficulties	Bazen (%5–29)
Gallstones	Bazen (%5–29)
Malabsorption	Bazen (%5–29)
Small bowel diverticula	Bazen (%5–29)
Sore in the lining of gastrointestinal tract	Bazen (%5–29)
Umbilical hernia	Bazen (%5–29)
Vomiting	Seyrek (%1–4)
Chronic constipation	Kaydedilmedi

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Loose redundant skin	Her zaman
Fragmented elastic fibers in the dermis	Çok sık (%80–99)
Hanging skin	Çok sık (%80–99)
Hyperelastic skin	Çok sık (%80–99)
Increased number of skin folds	Çok sık (%80–99)
Premature skin wrinkling	Çok sık (%80–99)
Abnormal fingernails	Sık (%30–79)
Premature graying of hair	Sık (%30–79)
Prematurely aged appearance	Sık (%30–79)
Small nail	Sık (%30–79)
Soft skin	Sık (%30–79)
Spinal dimple	Sık (%30–79)
Underdeveloped toenails	Sık (%30–79)
Abnormal fingerprints	Bazen (%5–29)
Dermal translucency	Bazen (%5–29)
port-wine stain	Bazen (%5–29)
Premature aged appearance	Kaydedilmedi

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Bunion	Sık (%30–79)
Curvature of little finger	Sık (%30–79)
Dropped arches	Sık (%30–79)
Knock knees	Sık (%30–79)
Abnormality of the ankle	Bazen (%5–29)
Dislocated kneecap	Bazen (%5–29)
Fused forearm bones	Bazen (%5–29)
Hip dislocation	Bazen (%5–29)
Inward turned thumb	Bazen (%5–29)
Long slender fingers	Bazen (%5–29)
Back knee	Seyrek (%1–4)
Club feet	Seyrek (%1–4)
Talipes calcaneovalgus	Seyrek (%1–4)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
High blood calcium levels	Çok sık (%80–99)
Diabetes mellitus	Sık (%30–79)
Elevated blood creatine phosphokinase	Sık (%30–79)
Elevated urine calcium levels	Sık (%30–79)
High urine protein levels	Sık (%30–79)
Abnormal circulating lipid concentration	Bazen (%5–29)
Deficient in vitamin D	Bazen (%5–29)
Noninsulin-dependent diabetes	Bazen (%5–29)
Food intolerance	Kaydedilmedi
Glucose intolerance	Kaydedilmedi

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Ears rotated toward back of head	Çok sık (%80–99)
Large ears	Çok sık (%80–99)
Prominent ear	Çok sık (%80–99)
Chronic infections of the middle ear	Sık (%30–79)
Large earlobe	Sık (%30–79)
Recurrent middle ear infection	Sık (%30–79)
Sensorineural hearing impairment	Sık (%30–79)
Low-set ears	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Breathing difficulty	Sık (%30–79)
Emphysema	Sık (%30–79)
Exertional breathlessness	Sık (%30–79)
Paroxysmal dyspnea	Sık (%30–79)
Permanent enlargement of the airways of the lungs	Sık (%30–79)
Collapsed lung	Bazen (%5–29)
Coughing up blood	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight in infancy	Çok sık (%80–99)
Short stature	Çok sık (%80–99)
Obesity	Sık (%30–79)
Growth delay as children	Bazen (%5–29)
Prenatal growth deficiency	Bazen (%5–29)
Tall stature	Bazen (%5–29)

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Early onset of sexual maturation	Sık (%30–79)
Early onset of puberty	Bazen (%5–29)
Hypogonadotropic hypogonadism	Bazen (%5–29)
Underactive thyroid	Bazen (%5–29)

Abnormality of the voice

Özellik	Ne sıklıkla görüldüğü
Abnormality of the voice	Çok sık (%80–99)
Hoarse voice	Çok sık (%80–99)
Inability to produce voice sounds	Bazen (%5–29)

Constitutional symptom

Özellik	Ne sıklıkla görüldüğü
Chest pain	Sık (%30–79)
Joint pain	Sık (%30–79)
Sudden death	Seyrek (%1–4)

Abnormality of blood and blood-forming tissues

Özellik	Ne sıklıkla görüldüğü
Bruising susceptibility	Bazen (%5–29)
Subarachnoid hemorrhage	Bazen (%5–29)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Recurrent respiratory infections	Bazen (%5–29)
Unusual bronchiolitis	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: ELN ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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