Kjennetegn

Kjennetegn knyttet til ELN

elastin

Human Phenotype Ontology knytter 312 kjennetegn til ELN, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of the cardiovascular system

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

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Abnormal shape of pelvic girdle bone	Svært ofte (80–99 %)
Abnormality of connective tissue	Svært ofte (80–99 %)
Abnormal curve of the backbone	Ofte (30–79 %)
Double-Jointed	Ofte (30–79 %)
Flexed joint that cannot be straightened	Ofte (30–79 %)
Hernia	Ofte (30–79 %)
Hunched back	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Joint stiffness	Ofte (30–79 %)
Kyphoscoliosis	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Osteopenia	Ofte (30–79 %)
Osteoporosis	Ofte (30–79 %)
Prominent swayback	Ofte (30–79 %)
Rounded shoulders	Ofte (30–79 %)
Abnormal vertebral body morphology	Noen ganger (5–29 %)
Abnormality of the sternum	Noen ganger (5–29 %)
Delayed bone maturation	Noen ganger (5–29 %)
Funnel chest	Noen ganger (5–29 %)
Fusion of joints	Noen ganger (5–29 %)
Increased bone mineral density	Noen ganger (5–29 %)
Muscle tissue disease	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Vertebral segmentation defect	Noen ganger (5–29 %)
Generalized decreased muscle tone	Ikke registrert

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Abnormality of the bladder	Ofte (30–79 %)
Abnormally shaped kidney	Ofte (30–79 %)
Bladder diverticulum	Ofte (30–79 %)
Frequent urinary tract infections	Ofte (30–79 %)
Narrowing of the urethra	Ofte (30–79 %)
Pelvic kidney	Ofte (30–79 %)
Renal failure	Ofte (30–79 %)
Sagging uterus	Ofte (30–79 %)
Abnormal tubulointerstitial morphology	Noen ganger (5–29 %)
Functional abnormality of male internal genitalia	Noen ganger (5–29 %)
Increased calcium level in kidney	Noen ganger (5–29 %)
Kidney stone	Noen ganger (5–29 %)
Multiple kidney cysts	Noen ganger (5–29 %)
Polycystic ovaries	Noen ganger (5–29 %)
Pyelonephritis	Noen ganger (5–29 %)
Short penis	Noen ganger (5–29 %)
Small kidneys	Noen ganger (5–29 %)
Underdeveloped penis	Noen ganger (5–29 %)
Undescended testes	Noen ganger (5–29 %)
Vesicoureteral reflux	Noen ganger (5–29 %)
Absent kidney on one side	Sjelden (1–4%)
Enuresis	Ikke registrert

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Severe farsightedness	Svært ofte (80–99 %)
Abnormality of the iris	Ofte (30–79 %)
Blue eyes	Ofte (30–79 %)
Cross-eyed	Ofte (30–79 %)
Nystagmus-induced head nodding	Ofte (30–79 %)
Visual impairment	Ofte (30–79 %)
Abnormality of refraction	Noen ganger (5–29 %)
Abnormality of tear production	Noen ganger (5–29 %)
Abnormally close eyes	Noen ganger (5–29 %)
Absent/small iris	Noen ganger (5–29 %)
Close sighted	Noen ganger (5–29 %)
Clouding of the lens of the eye	Noen ganger (5–29 %)
Clouding of the lens of the eye at birth	Noen ganger (5–29 %)
Corneal opacity	Noen ganger (5–29 %)
Drooping upper eyelid	Noen ganger (5–29 %)
Enlarged cornea	Noen ganger (5–29 %)
Flat cornea	Noen ganger (5–29 %)
Glaucoma	Noen ganger (5–29 %)
Lazy eye	Noen ganger (5–29 %)
Posterior embryotoxon	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Abdominal pain	Svært ofte (80–99 %)
Acid reflux	Ofte (30–79 %)
Colonic diverticula	Ofte (30–79 %)
Constipation	Ofte (30–79 %)
Feeding difficulties in infancy	Ofte (30–79 %)
Inguinal hernia	Ofte (30–79 %)
Nausea and vomiting	Ofte (30–79 %)
Rectum protrudes through anus	Ofte (30–79 %)
Abnormal connection between trachea and esophagus	Noen ganger (5–29 %)
Abnormality of the mucous membrane layer of stomach	Noen ganger (5–29 %)
Celiac disease	Noen ganger (5–29 %)
Extra kidney	Noen ganger (5–29 %)
Feeding difficulties	Noen ganger (5–29 %)
Gallstones	Noen ganger (5–29 %)
Malabsorption	Noen ganger (5–29 %)
Small bowel diverticula	Noen ganger (5–29 %)
Sore in the lining of gastrointestinal tract	Noen ganger (5–29 %)
Umbilical hernia	Noen ganger (5–29 %)
Vomiting	Sjelden (1–4%)
Chronic constipation	Ikke registrert

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Loose redundant skin	Alltid
Fragmented elastic fibers in the dermis	Svært ofte (80–99 %)
Hanging skin	Svært ofte (80–99 %)
Hyperelastic skin	Svært ofte (80–99 %)
Increased number of skin folds	Svært ofte (80–99 %)
Premature skin wrinkling	Svært ofte (80–99 %)
Abnormal fingernails	Ofte (30–79 %)
Premature graying of hair	Ofte (30–79 %)
Prematurely aged appearance	Ofte (30–79 %)
Small nail	Ofte (30–79 %)
Soft skin	Ofte (30–79 %)
Spinal dimple	Ofte (30–79 %)
Underdeveloped toenails	Ofte (30–79 %)
Abnormal fingerprints	Noen ganger (5–29 %)
Dermal translucency	Noen ganger (5–29 %)
port-wine stain	Noen ganger (5–29 %)
Premature aged appearance	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Bunion	Ofte (30–79 %)
Curvature of little finger	Ofte (30–79 %)
Dropped arches	Ofte (30–79 %)
Knock knees	Ofte (30–79 %)
Abnormality of the ankle	Noen ganger (5–29 %)
Dislocated kneecap	Noen ganger (5–29 %)
Fused forearm bones	Noen ganger (5–29 %)
Hip dislocation	Noen ganger (5–29 %)
Inward turned thumb	Noen ganger (5–29 %)
Long slender fingers	Noen ganger (5–29 %)
Back knee	Sjelden (1–4%)
Club feet	Sjelden (1–4%)
Talipes calcaneovalgus	Sjelden (1–4%)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
High blood calcium levels	Svært ofte (80–99 %)
Diabetes mellitus	Ofte (30–79 %)
Elevated blood creatine phosphokinase	Ofte (30–79 %)
Elevated urine calcium levels	Ofte (30–79 %)
High urine protein levels	Ofte (30–79 %)
Abnormal circulating lipid concentration	Noen ganger (5–29 %)
Deficient in vitamin D	Noen ganger (5–29 %)
Noninsulin-dependent diabetes	Noen ganger (5–29 %)
Food intolerance	Ikke registrert
Glucose intolerance	Ikke registrert

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Ears rotated toward back of head	Svært ofte (80–99 %)
Large ears	Svært ofte (80–99 %)
Prominent ear	Svært ofte (80–99 %)
Chronic infections of the middle ear	Ofte (30–79 %)
Large earlobe	Ofte (30–79 %)
Recurrent middle ear infection	Ofte (30–79 %)
Sensorineural hearing impairment	Ofte (30–79 %)
Low-set ears	Noen ganger (5–29 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Breathing difficulty	Ofte (30–79 %)
Emphysema	Ofte (30–79 %)
Exertional breathlessness	Ofte (30–79 %)
Paroxysmal dyspnea	Ofte (30–79 %)
Permanent enlargement of the airways of the lungs	Ofte (30–79 %)
Collapsed lung	Noen ganger (5–29 %)
Coughing up blood	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Faltering weight in infancy	Svært ofte (80–99 %)
Short stature	Svært ofte (80–99 %)
Obesity	Ofte (30–79 %)
Growth delay as children	Noen ganger (5–29 %)
Prenatal growth deficiency	Noen ganger (5–29 %)
Tall stature	Noen ganger (5–29 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Early onset of sexual maturation	Ofte (30–79 %)
Early onset of puberty	Noen ganger (5–29 %)
Hypogonadotropic hypogonadism	Noen ganger (5–29 %)
Underactive thyroid	Noen ganger (5–29 %)

Abnormality of the voice

Kjennetegn	Hvor ofte den forekommer
Abnormality of the voice	Svært ofte (80–99 %)
Hoarse voice	Svært ofte (80–99 %)
Inability to produce voice sounds	Noen ganger (5–29 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Chest pain	Ofte (30–79 %)
Joint pain	Ofte (30–79 %)
Sudden death	Sjelden (1–4%)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Bruising susceptibility	Noen ganger (5–29 %)
Subarachnoid hemorrhage	Noen ganger (5–29 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Recurrent respiratory infections	Noen ganger (5–29 %)
Unusual bronchiolitis	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til ELN og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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