Egenskaper

Egenskaper kopplade till ELN

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Human Phenotype Ontology kopplar 312 egenskaper till ELN, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

Abnormality of the cardiovascular system

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

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
Abnormal shape of pelvic girdle bone	Mycket ofta (80–99 %)
Abnormality of connective tissue	Mycket ofta (80–99 %)
Abnormal curve of the backbone	Ofta (30–79 %)
Double-Jointed	Ofta (30–79 %)
Flexed joint that cannot be straightened	Ofta (30–79 %)
Hernia	Ofta (30–79 %)
Hunched back	Ofta (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofta (30–79 %)
Joint stiffness	Ofta (30–79 %)
Kyphoscoliosis	Ofta (30–79 %)
Low muscle tone	Ofta (30–79 %)
Osteopenia	Ofta (30–79 %)
Osteoporosis	Ofta (30–79 %)
Prominent swayback	Ofta (30–79 %)
Rounded shoulders	Ofta (30–79 %)
Abnormal vertebral body morphology	Ibland (5–29 %)
Abnormality of the sternum	Ibland (5–29 %)
Delayed bone maturation	Ibland (5–29 %)
Funnel chest	Ibland (5–29 %)
Fusion of joints	Ibland (5–29 %)
Increased bone mineral density	Ibland (5–29 %)
Muscle tissue disease	Ibland (5–29 %)
Scoliosis	Ibland (5–29 %)
Vertebral segmentation defect	Ibland (5–29 %)
Generalized decreased muscle tone	Inte registrerat

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Abnormality of the bladder	Ofta (30–79 %)
Abnormally shaped kidney	Ofta (30–79 %)
Bladder diverticulum	Ofta (30–79 %)
Frequent urinary tract infections	Ofta (30–79 %)
Narrowing of the urethra	Ofta (30–79 %)
Pelvic kidney	Ofta (30–79 %)
Renal failure	Ofta (30–79 %)
Sagging uterus	Ofta (30–79 %)
Abnormal tubulointerstitial morphology	Ibland (5–29 %)
Functional abnormality of male internal genitalia	Ibland (5–29 %)
Increased calcium level in kidney	Ibland (5–29 %)
Kidney stone	Ibland (5–29 %)
Multiple kidney cysts	Ibland (5–29 %)
Polycystic ovaries	Ibland (5–29 %)
Pyelonephritis	Ibland (5–29 %)
Short penis	Ibland (5–29 %)
Small kidneys	Ibland (5–29 %)
Underdeveloped penis	Ibland (5–29 %)
Undescended testes	Ibland (5–29 %)
Vesicoureteral reflux	Ibland (5–29 %)
Absent kidney on one side	Sällan (1–4%)
Enuresis	Inte registrerat

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Severe farsightedness	Mycket ofta (80–99 %)
Abnormality of the iris	Ofta (30–79 %)
Blue eyes	Ofta (30–79 %)
Cross-eyed	Ofta (30–79 %)
Nystagmus-induced head nodding	Ofta (30–79 %)
Visual impairment	Ofta (30–79 %)
Abnormality of refraction	Ibland (5–29 %)
Abnormality of tear production	Ibland (5–29 %)
Abnormally close eyes	Ibland (5–29 %)
Absent/small iris	Ibland (5–29 %)
Close sighted	Ibland (5–29 %)
Clouding of the lens of the eye	Ibland (5–29 %)
Clouding of the lens of the eye at birth	Ibland (5–29 %)
Corneal opacity	Ibland (5–29 %)
Drooping upper eyelid	Ibland (5–29 %)
Enlarged cornea	Ibland (5–29 %)
Flat cornea	Ibland (5–29 %)
Glaucoma	Ibland (5–29 %)
Lazy eye	Ibland (5–29 %)
Posterior embryotoxon	Ibland (5–29 %)
Wide-set eyes	Ibland (5–29 %)

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Abdominal pain	Mycket ofta (80–99 %)
Acid reflux	Ofta (30–79 %)
Colonic diverticula	Ofta (30–79 %)
Constipation	Ofta (30–79 %)
Feeding difficulties in infancy	Ofta (30–79 %)
Inguinal hernia	Ofta (30–79 %)
Nausea and vomiting	Ofta (30–79 %)
Rectum protrudes through anus	Ofta (30–79 %)
Abnormal connection between trachea and esophagus	Ibland (5–29 %)
Abnormality of the mucous membrane layer of stomach	Ibland (5–29 %)
Celiac disease	Ibland (5–29 %)
Extra kidney	Ibland (5–29 %)
Feeding difficulties	Ibland (5–29 %)
Gallstones	Ibland (5–29 %)
Malabsorption	Ibland (5–29 %)
Small bowel diverticula	Ibland (5–29 %)
Sore in the lining of gastrointestinal tract	Ibland (5–29 %)
Umbilical hernia	Ibland (5–29 %)
Vomiting	Sällan (1–4%)
Chronic constipation	Inte registrerat

Abnormality of the integument

Egenskap	Hur ofta den förekommer
Loose redundant skin	Alltid
Fragmented elastic fibers in the dermis	Mycket ofta (80–99 %)
Hanging skin	Mycket ofta (80–99 %)
Hyperelastic skin	Mycket ofta (80–99 %)
Increased number of skin folds	Mycket ofta (80–99 %)
Premature skin wrinkling	Mycket ofta (80–99 %)
Abnormal fingernails	Ofta (30–79 %)
Premature graying of hair	Ofta (30–79 %)
Prematurely aged appearance	Ofta (30–79 %)
Small nail	Ofta (30–79 %)
Soft skin	Ofta (30–79 %)
Spinal dimple	Ofta (30–79 %)
Underdeveloped toenails	Ofta (30–79 %)
Abnormal fingerprints	Ibland (5–29 %)
Dermal translucency	Ibland (5–29 %)
port-wine stain	Ibland (5–29 %)
Premature aged appearance	Inte registrerat

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Bunion	Ofta (30–79 %)
Curvature of little finger	Ofta (30–79 %)
Dropped arches	Ofta (30–79 %)
Knock knees	Ofta (30–79 %)
Abnormality of the ankle	Ibland (5–29 %)
Dislocated kneecap	Ibland (5–29 %)
Fused forearm bones	Ibland (5–29 %)
Hip dislocation	Ibland (5–29 %)
Inward turned thumb	Ibland (5–29 %)
Long slender fingers	Ibland (5–29 %)
Back knee	Sällan (1–4%)
Club feet	Sällan (1–4%)
Talipes calcaneovalgus	Sällan (1–4%)

Laboratory abnormality

Egenskap	Hur ofta den förekommer
High blood calcium levels	Mycket ofta (80–99 %)
Diabetes mellitus	Ofta (30–79 %)
Elevated blood creatine phosphokinase	Ofta (30–79 %)
Elevated urine calcium levels	Ofta (30–79 %)
High urine protein levels	Ofta (30–79 %)
Abnormal circulating lipid concentration	Ibland (5–29 %)
Deficient in vitamin D	Ibland (5–29 %)
Noninsulin-dependent diabetes	Ibland (5–29 %)
Food intolerance	Inte registrerat
Glucose intolerance	Inte registrerat

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Ears rotated toward back of head	Mycket ofta (80–99 %)
Large ears	Mycket ofta (80–99 %)
Prominent ear	Mycket ofta (80–99 %)
Chronic infections of the middle ear	Ofta (30–79 %)
Large earlobe	Ofta (30–79 %)
Recurrent middle ear infection	Ofta (30–79 %)
Sensorineural hearing impairment	Ofta (30–79 %)
Low-set ears	Ibland (5–29 %)

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Breathing difficulty	Ofta (30–79 %)
Emphysema	Ofta (30–79 %)
Exertional breathlessness	Ofta (30–79 %)
Paroxysmal dyspnea	Ofta (30–79 %)
Permanent enlargement of the airways of the lungs	Ofta (30–79 %)
Collapsed lung	Ibland (5–29 %)
Coughing up blood	Ibland (5–29 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Faltering weight in infancy	Mycket ofta (80–99 %)
Short stature	Mycket ofta (80–99 %)
Obesity	Ofta (30–79 %)
Growth delay as children	Ibland (5–29 %)
Prenatal growth deficiency	Ibland (5–29 %)
Tall stature	Ibland (5–29 %)

Abnormality of the endocrine system

Egenskap	Hur ofta den förekommer
Early onset of sexual maturation	Ofta (30–79 %)
Early onset of puberty	Ibland (5–29 %)
Hypogonadotropic hypogonadism	Ibland (5–29 %)
Underactive thyroid	Ibland (5–29 %)

Abnormality of the voice

Egenskap	Hur ofta den förekommer
Abnormality of the voice	Mycket ofta (80–99 %)
Hoarse voice	Mycket ofta (80–99 %)
Inability to produce voice sounds	Ibland (5–29 %)

Constitutional symptom

Egenskap	Hur ofta den förekommer
Chest pain	Ofta (30–79 %)
Joint pain	Ofta (30–79 %)
Sudden death	Sällan (1–4%)

Abnormality of blood and blood-forming tissues

Egenskap	Hur ofta den förekommer
Bruising susceptibility	Ibland (5–29 %)
Subarachnoid hemorrhage	Ibland (5–29 %)

Abnormality of the immune system

Egenskap	Hur ofta den förekommer
Recurrent respiratory infections	Ibland (5–29 %)
Unusual bronchiolitis	Ibland (5–29 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till ELN och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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