Tunnused

Geeniga ELN seotud tunnused

elastin

Inimese fenotüübi ontoloogia seostab geeniga ELN 312 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the cardiovascular system

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

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormal shape of pelvic girdle bone	Väga sageli (80–99%)
Abnormality of connective tissue	Väga sageli (80–99%)
Abnormal curve of the backbone	Sageli (30–79%)
Double-Jointed	Sageli (30–79%)
Flexed joint that cannot be straightened	Sageli (30–79%)
Hernia	Sageli (30–79%)
Hunched back	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Joint stiffness	Sageli (30–79%)
Kyphoscoliosis	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Osteopenia	Sageli (30–79%)
Osteoporosis	Sageli (30–79%)
Prominent swayback	Sageli (30–79%)
Rounded shoulders	Sageli (30–79%)
Abnormal vertebral body morphology	Mõnikord (5–29%)
Abnormality of the sternum	Mõnikord (5–29%)
Delayed bone maturation	Mõnikord (5–29%)
Funnel chest	Mõnikord (5–29%)
Fusion of joints	Mõnikord (5–29%)
Increased bone mineral density	Mõnikord (5–29%)
Muscle tissue disease	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Vertebral segmentation defect	Mõnikord (5–29%)
Generalized decreased muscle tone	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the bladder	Sageli (30–79%)
Abnormally shaped kidney	Sageli (30–79%)
Bladder diverticulum	Sageli (30–79%)
Frequent urinary tract infections	Sageli (30–79%)
Narrowing of the urethra	Sageli (30–79%)
Pelvic kidney	Sageli (30–79%)
Renal failure	Sageli (30–79%)
Sagging uterus	Sageli (30–79%)
Abnormal tubulointerstitial morphology	Mõnikord (5–29%)
Functional abnormality of male internal genitalia	Mõnikord (5–29%)
Increased calcium level in kidney	Mõnikord (5–29%)
Kidney stone	Mõnikord (5–29%)
Multiple kidney cysts	Mõnikord (5–29%)
Polycystic ovaries	Mõnikord (5–29%)
Pyelonephritis	Mõnikord (5–29%)
Short penis	Mõnikord (5–29%)
Small kidneys	Mõnikord (5–29%)
Underdeveloped penis	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)
Vesicoureteral reflux	Mõnikord (5–29%)
Absent kidney on one side	Harva (1–4%)
Enuresis	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Severe farsightedness	Väga sageli (80–99%)
Abnormality of the iris	Sageli (30–79%)
Blue eyes	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Nystagmus-induced head nodding	Sageli (30–79%)
Visual impairment	Sageli (30–79%)
Abnormality of refraction	Mõnikord (5–29%)
Abnormality of tear production	Mõnikord (5–29%)
Abnormally close eyes	Mõnikord (5–29%)
Absent/small iris	Mõnikord (5–29%)
Close sighted	Mõnikord (5–29%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Clouding of the lens of the eye at birth	Mõnikord (5–29%)
Corneal opacity	Mõnikord (5–29%)
Drooping upper eyelid	Mõnikord (5–29%)
Enlarged cornea	Mõnikord (5–29%)
Flat cornea	Mõnikord (5–29%)
Glaucoma	Mõnikord (5–29%)
Lazy eye	Mõnikord (5–29%)
Posterior embryotoxon	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abdominal pain	Väga sageli (80–99%)
Acid reflux	Sageli (30–79%)
Colonic diverticula	Sageli (30–79%)
Constipation	Sageli (30–79%)
Feeding difficulties in infancy	Sageli (30–79%)
Inguinal hernia	Sageli (30–79%)
Nausea and vomiting	Sageli (30–79%)
Rectum protrudes through anus	Sageli (30–79%)
Abnormal connection between trachea and esophagus	Mõnikord (5–29%)
Abnormality of the mucous membrane layer of stomach	Mõnikord (5–29%)
Celiac disease	Mõnikord (5–29%)
Extra kidney	Mõnikord (5–29%)
Feeding difficulties	Mõnikord (5–29%)
Gallstones	Mõnikord (5–29%)
Malabsorption	Mõnikord (5–29%)
Small bowel diverticula	Mõnikord (5–29%)
Sore in the lining of gastrointestinal tract	Mõnikord (5–29%)
Umbilical hernia	Mõnikord (5–29%)
Vomiting	Harva (1–4%)
Chronic constipation	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Loose redundant skin	Alati
Fragmented elastic fibers in the dermis	Väga sageli (80–99%)
Hanging skin	Väga sageli (80–99%)
Hyperelastic skin	Väga sageli (80–99%)
Increased number of skin folds	Väga sageli (80–99%)
Premature skin wrinkling	Väga sageli (80–99%)
Abnormal fingernails	Sageli (30–79%)
Premature graying of hair	Sageli (30–79%)
Prematurely aged appearance	Sageli (30–79%)
Small nail	Sageli (30–79%)
Soft skin	Sageli (30–79%)
Spinal dimple	Sageli (30–79%)
Underdeveloped toenails	Sageli (30–79%)
Abnormal fingerprints	Mõnikord (5–29%)
Dermal translucency	Mõnikord (5–29%)
port-wine stain	Mõnikord (5–29%)
Premature aged appearance	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Bunion	Sageli (30–79%)
Curvature of little finger	Sageli (30–79%)
Dropped arches	Sageli (30–79%)
Knock knees	Sageli (30–79%)
Abnormality of the ankle	Mõnikord (5–29%)
Dislocated kneecap	Mõnikord (5–29%)
Fused forearm bones	Mõnikord (5–29%)
Hip dislocation	Mõnikord (5–29%)
Inward turned thumb	Mõnikord (5–29%)
Long slender fingers	Mõnikord (5–29%)
Back knee	Harva (1–4%)
Club feet	Harva (1–4%)
Talipes calcaneovalgus	Harva (1–4%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
High blood calcium levels	Väga sageli (80–99%)
Diabetes mellitus	Sageli (30–79%)
Elevated blood creatine phosphokinase	Sageli (30–79%)
Elevated urine calcium levels	Sageli (30–79%)
High urine protein levels	Sageli (30–79%)
Abnormal circulating lipid concentration	Mõnikord (5–29%)
Deficient in vitamin D	Mõnikord (5–29%)
Noninsulin-dependent diabetes	Mõnikord (5–29%)
Food intolerance	Pole registreeritud
Glucose intolerance	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Väga sageli (80–99%)
Large ears	Väga sageli (80–99%)
Prominent ear	Väga sageli (80–99%)
Chronic infections of the middle ear	Sageli (30–79%)
Large earlobe	Sageli (30–79%)
Recurrent middle ear infection	Sageli (30–79%)
Sensorineural hearing impairment	Sageli (30–79%)
Low-set ears	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulty	Sageli (30–79%)
Emphysema	Sageli (30–79%)
Exertional breathlessness	Sageli (30–79%)
Paroxysmal dyspnea	Sageli (30–79%)
Permanent enlargement of the airways of the lungs	Sageli (30–79%)
Collapsed lung	Mõnikord (5–29%)
Coughing up blood	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight in infancy	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)
Obesity	Sageli (30–79%)
Growth delay as children	Mõnikord (5–29%)
Prenatal growth deficiency	Mõnikord (5–29%)
Tall stature	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Early onset of sexual maturation	Sageli (30–79%)
Early onset of puberty	Mõnikord (5–29%)
Hypogonadotropic hypogonadism	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Abnormality of the voice	Väga sageli (80–99%)
Hoarse voice	Väga sageli (80–99%)
Inability to produce voice sounds	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Chest pain	Sageli (30–79%)
Joint pain	Sageli (30–79%)
Sudden death	Harva (1–4%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Bruising susceptibility	Mõnikord (5–29%)
Subarachnoid hemorrhage	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent respiratory infections	Mõnikord (5–29%)
Unusual bronchiolitis	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga ELN seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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