Ominaisuudet

Geeniin ELN yhdistetyt ominaisuudet

elastin

Human Phenotype Ontology yhdistää ELN-geeniin 312 ominaisuutta elimistöjärjestelmittäin: piirteitä, joita esiintyy geenin harvinaisista sairauksista kärsivillä ihmisillä.

Abnormality of the cardiovascular system

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

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the genitourinary system

Ominaisuus	Kuinka usein sitä esiintyy
Abnormality of the bladder	Usein (30–79%)
Abnormally shaped kidney	Usein (30–79%)
Bladder diverticulum	Usein (30–79%)
Frequent urinary tract infections	Usein (30–79%)
Narrowing of the urethra	Usein (30–79%)
Pelvic kidney	Usein (30–79%)
Renal failure	Usein (30–79%)
Sagging uterus	Usein (30–79%)
Abnormal tubulointerstitial morphology	Joskus (5–29%)
Functional abnormality of male internal genitalia	Joskus (5–29%)
Increased calcium level in kidney	Joskus (5–29%)
Kidney stone	Joskus (5–29%)
Multiple kidney cysts	Joskus (5–29%)
Polycystic ovaries	Joskus (5–29%)
Pyelonephritis	Joskus (5–29%)
Short penis	Joskus (5–29%)
Small kidneys	Joskus (5–29%)
Underdeveloped penis	Joskus (5–29%)
Undescended testes	Joskus (5–29%)
Vesicoureteral reflux	Joskus (5–29%)
Absent kidney on one side	Harvinainen (1–4 %)
Enuresis	Ei kirjattu

Abnormality of the eye

Ominaisuus	Kuinka usein sitä esiintyy
Severe farsightedness	Hyvin usein (80–99%)
Abnormality of the iris	Usein (30–79%)
Blue eyes	Usein (30–79%)
Cross-eyed	Usein (30–79%)
Nystagmus-induced head nodding	Usein (30–79%)
Visual impairment	Usein (30–79%)
Abnormality of refraction	Joskus (5–29%)
Abnormality of tear production	Joskus (5–29%)
Abnormally close eyes	Joskus (5–29%)
Absent/small iris	Joskus (5–29%)
Close sighted	Joskus (5–29%)
Clouding of the lens of the eye	Joskus (5–29%)
Clouding of the lens of the eye at birth	Joskus (5–29%)
Corneal opacity	Joskus (5–29%)
Drooping upper eyelid	Joskus (5–29%)
Enlarged cornea	Joskus (5–29%)
Flat cornea	Joskus (5–29%)
Glaucoma	Joskus (5–29%)
Lazy eye	Joskus (5–29%)
Posterior embryotoxon	Joskus (5–29%)
Wide-set eyes	Joskus (5–29%)

Abnormality of the digestive system

Ominaisuus	Kuinka usein sitä esiintyy
Abdominal pain	Hyvin usein (80–99%)
Acid reflux	Usein (30–79%)
Colonic diverticula	Usein (30–79%)
Constipation	Usein (30–79%)
Feeding difficulties in infancy	Usein (30–79%)
Inguinal hernia	Usein (30–79%)
Nausea and vomiting	Usein (30–79%)
Rectum protrudes through anus	Usein (30–79%)
Abnormal connection between trachea and esophagus	Joskus (5–29%)
Abnormality of the mucous membrane layer of stomach	Joskus (5–29%)
Celiac disease	Joskus (5–29%)
Extra kidney	Joskus (5–29%)
Feeding difficulties	Joskus (5–29%)
Gallstones	Joskus (5–29%)
Malabsorption	Joskus (5–29%)
Small bowel diverticula	Joskus (5–29%)
Sore in the lining of gastrointestinal tract	Joskus (5–29%)
Umbilical hernia	Joskus (5–29%)
Vomiting	Harvinainen (1–4 %)
Chronic constipation	Ei kirjattu

Abnormality of the integument

Ominaisuus	Kuinka usein sitä esiintyy
Loose redundant skin	Aina
Fragmented elastic fibers in the dermis	Hyvin usein (80–99%)
Hanging skin	Hyvin usein (80–99%)
Hyperelastic skin	Hyvin usein (80–99%)
Increased number of skin folds	Hyvin usein (80–99%)
Premature skin wrinkling	Hyvin usein (80–99%)
Abnormal fingernails	Usein (30–79%)
Premature graying of hair	Usein (30–79%)
Prematurely aged appearance	Usein (30–79%)
Small nail	Usein (30–79%)
Soft skin	Usein (30–79%)
Spinal dimple	Usein (30–79%)
Underdeveloped toenails	Usein (30–79%)
Abnormal fingerprints	Joskus (5–29%)
Dermal translucency	Joskus (5–29%)
port-wine stain	Joskus (5–29%)
Premature aged appearance	Ei kirjattu

Abnormality of limbs

Ominaisuus	Kuinka usein sitä esiintyy
Bunion	Usein (30–79%)
Curvature of little finger	Usein (30–79%)
Dropped arches	Usein (30–79%)
Knock knees	Usein (30–79%)
Abnormality of the ankle	Joskus (5–29%)
Dislocated kneecap	Joskus (5–29%)
Fused forearm bones	Joskus (5–29%)
Hip dislocation	Joskus (5–29%)
Inward turned thumb	Joskus (5–29%)
Long slender fingers	Joskus (5–29%)
Back knee	Harvinainen (1–4 %)
Club feet	Harvinainen (1–4 %)
Talipes calcaneovalgus	Harvinainen (1–4 %)

Laboratory abnormality

Ominaisuus	Kuinka usein sitä esiintyy
High blood calcium levels	Hyvin usein (80–99%)
Diabetes mellitus	Usein (30–79%)
Elevated blood creatine phosphokinase	Usein (30–79%)
Elevated urine calcium levels	Usein (30–79%)
High urine protein levels	Usein (30–79%)
Abnormal circulating lipid concentration	Joskus (5–29%)
Deficient in vitamin D	Joskus (5–29%)
Noninsulin-dependent diabetes	Joskus (5–29%)
Food intolerance	Ei kirjattu
Glucose intolerance	Ei kirjattu

Abnormality of the ear

Ominaisuus	Kuinka usein sitä esiintyy
Ears rotated toward back of head	Hyvin usein (80–99%)
Large ears	Hyvin usein (80–99%)
Prominent ear	Hyvin usein (80–99%)
Chronic infections of the middle ear	Usein (30–79%)
Large earlobe	Usein (30–79%)
Recurrent middle ear infection	Usein (30–79%)
Sensorineural hearing impairment	Usein (30–79%)
Low-set ears	Joskus (5–29%)

Abnormality of the respiratory system

Ominaisuus	Kuinka usein sitä esiintyy
Breathing difficulty	Usein (30–79%)
Emphysema	Usein (30–79%)
Exertional breathlessness	Usein (30–79%)
Paroxysmal dyspnea	Usein (30–79%)
Permanent enlargement of the airways of the lungs	Usein (30–79%)
Collapsed lung	Joskus (5–29%)
Coughing up blood	Joskus (5–29%)

Growth abnormality

Ominaisuus	Kuinka usein sitä esiintyy
Faltering weight in infancy	Hyvin usein (80–99%)
Short stature	Hyvin usein (80–99%)
Obesity	Usein (30–79%)
Growth delay as children	Joskus (5–29%)
Prenatal growth deficiency	Joskus (5–29%)
Tall stature	Joskus (5–29%)

Abnormality of the endocrine system

Ominaisuus	Kuinka usein sitä esiintyy
Early onset of sexual maturation	Usein (30–79%)
Early onset of puberty	Joskus (5–29%)
Hypogonadotropic hypogonadism	Joskus (5–29%)
Underactive thyroid	Joskus (5–29%)

Abnormality of the voice

Ominaisuus	Kuinka usein sitä esiintyy
Abnormality of the voice	Hyvin usein (80–99%)
Hoarse voice	Hyvin usein (80–99%)
Inability to produce voice sounds	Joskus (5–29%)

Constitutional symptom

Ominaisuus	Kuinka usein sitä esiintyy
Chest pain	Usein (30–79%)
Joint pain	Usein (30–79%)
Sudden death	Harvinainen (1–4 %)

Abnormality of blood and blood-forming tissues

Ominaisuus	Kuinka usein sitä esiintyy
Bruising susceptibility	Joskus (5–29%)
Subarachnoid hemorrhage	Joskus (5–29%)

Abnormality of the immune system

Ominaisuus	Kuinka usein sitä esiintyy
Recurrent respiratory infections	Joskus (5–29%)
Unusual bronchiolitis	Joskus (5–29%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

Human Phenotype Ontology, julkaisu 2026-09-01: ELN-geeniin yhdistetyt ominaisuudet ja kunkin esiintymistiheys. Lisätietoja osoitteesta hpo.jax.org.

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