Ominaisuudet

Geeniin LMNA yhdistetyt ominaisuudet

lamin A/C

Human Phenotype Ontology yhdistää LMNA-geeniin 501 ominaisuutta elimistöjärjestelmittäin: piirteitä, joita esiintyy geenin harvinaisista sairauksista kärsivillä ihmisillä.

Abnormality of the musculoskeletal system

Ominaisuus	Kuinka usein sitä esiintyy
Axial muscle weakness	Aina
Calcium buildup in soft tissues of body	Aina
Difficulty running	Aina
Difficulty walking up stairs	Aina
Diffuse skeletal muscle wasting	Aina
Frequent falls	Aina
Gowers sign	Aina
Inability to make and keep healthy fat tissue	Aina
Increased skeletal muscle cells	Aina
Joint contracture	Aina
Joint stiffness	Aina
Loss of fat tissue below the skin in limbs	Aina
Low muscle tone	Aina
Multiple shoulder dislocation	Aina
Muscle fiber degeneration	Aina
Muscle tissue disease	Aina
Muscular dystrophy	Aina
Osteopenia	Aina
Permanent flexion of the finger or toe	Aina
Poor head control	Aina
Proximal neurogenic muscle weakness	Aina
Reduced spine movement	Aina
Rounded shoulders	Aina
Short collarbone	Aina
Weakness of outermost muscles	Aina
Abnormality of the chest	Hyvin usein (80–99%)
Absent fat below the skin	Hyvin usein (80–99%)
Absent/small collarbone	Hyvin usein (80–99%)
Arthrogryposis multiplex congenita	Hyvin usein (80–99%)
Bone cell cancer	Hyvin usein (80–99%)
Breakdown of bone	Hyvin usein (80–99%)
Calcium deposits in joints	Hyvin usein (80–99%)
Elbow contracture	Hyvin usein (80–99%)
EMG: axonal abnormality	Hyvin usein (80–99%)
Funnel chest	Hyvin usein (80–99%)
Generalized lipodystrophy	Hyvin usein (80–99%)
Increased anterioposterior diameter of thorax	Hyvin usein (80–99%)
Increased bone density in hand bone	Hyvin usein (80–99%)
Limitation of joint mobility	Hyvin usein (80–99%)
Loss of fat tissue in localized area	Hyvin usein (80–99%)
Loss of fat tissue in trunk	Hyvin usein (80–99%)
Low solidness and mass of the bones	Hyvin usein (80–99%)
Multiple joint contractures	Hyvin usein (80–99%)
Muscle degeneration	Hyvin usein (80–99%)
Myotonia	Hyvin usein (80–99%)
Neck muscle weakness	Hyvin usein (80–99%)
Osteoporosis	Hyvin usein (80–99%)
Progressive clavicular acroosteolysis	Hyvin usein (80–99%)
Thin collarbone	Hyvin usein (80–99%)
Thin ribs	Hyvin usein (80–99%)
Absent muscle fiber emerin	Usein (30–79%)
Back pain	Usein (30–79%)
Decreased lung function due to weak breathing muscles	Usein (30–79%)
Distal muscle wasting	Usein (30–79%)
EMG abnormality	Usein (30–79%)
EMG: myopathic abnormalities	Usein (30–79%)
Flexed joint that cannot be straightened	Usein (30–79%)
High shoulder blade	Usein (30–79%)
Inability to touch chin to chest	Usein (30–79%)
Increased intraabdominal fat	Usein (30–79%)
Intervertebral disk degeneration	Usein (30–79%)
Overtubulated long bones	Usein (30–79%)
Prominent swayback	Usein (30–79%)
Rimmed vacuoles	Usein (30–79%)
Scapuloperoneal amyotrophy	Usein (30–79%)
Scoliosis	Usein (30–79%)
Type 1 muscle fiber atrophy	Usein (30–79%)
Abnormal formation of the hip	Joskus (5–29%)
Abnormality of skeletal muscle fiber size	Joskus (5–29%)
Bacterial infection of skin	Joskus (5–29%)
Death of bone due to decreased blood supply	Joskus (5–29%)
Degenerative joint disease	Joskus (5–29%)
Double-Jointed	Joskus (5–29%)
Ectopic calcification	Joskus (5–29%)
Hamstring contractures	Joskus (5–29%)
Hunched back	Joskus (5–29%)
Increased bone mineral density	Joskus (5–29%)
Limited hip movement	Joskus (5–29%)
Limited shoulder movement	Joskus (5–29%)
Lower limb amyotrophy	Joskus (5–29%)
Muscular abnormality	Joskus (5–29%)
Narrow chest	Joskus (5–29%)
Thoracic kyphoscoliosis	Joskus (5–29%)
Wasting of muscles near the body	Joskus (5–29%)
Thoracic kyphosis	Harvinainen (1–4 %)
Distal lower limb amyotrophy	Ei kirjattu
Generalized osteoporosis	Ei kirjattu
Increased intramuscular fat	Ei kirjattu
Kyphoscoliosis	Ei kirjattu
Loss of fat tissue	Ei kirjattu
Muscle weakness	Ei kirjattu

Abnormality of the cardiovascular system

Ominaisuus	Kuinka usein sitä esiintyy
Abnormal heart rate	Aina
Disease of the heart muscle	Aina
Fainting spell	Aina
First degree atrioventricular block	Aina
Increased spleen size	Aina
Interstitial cardiac fibrosis	Aina
Left anterior fascicular block	Aina
Mitral regurgitation	Aina
Reduced left ventricular ejection fraction	Aina
Telangiectasia of the skin	Aina
Ventricular arrhythmia	Aina
Abnormal atrioventricular conduction	Hyvin usein (80–99%)
Abnormal electrophysiology of sinoatrial node origin	Hyvin usein (80–99%)
Abnormality of lung artery	Hyvin usein (80–99%)
Abnormality of the cerebral blood vessels	Hyvin usein (80–99%)
Abnormality of the vasculature	Hyvin usein (80–99%)
Aortic atherosclerotic lesion	Hyvin usein (80–99%)
Aortic valve calcification	Hyvin usein (80–99%)
Bulge in wall of root of large artery that carries blood away from heart	Hyvin usein (80–99%)
Cardiac conduction abnormality	Hyvin usein (80–99%)
Cardiac failure	Hyvin usein (80–99%)
High blood pressure	Hyvin usein (80–99%)
Left ventricular systolic dysfunction	Hyvin usein (80–99%)
Mitral valve calcification	Hyvin usein (80–99%)
Narrowing of aortic valve	Hyvin usein (80–99%)
Patent ductus arteriosus	Hyvin usein (80–99%)
Peripheral arterial stenosis	Hyvin usein (80–99%)
Plaque build-up in arteries supplying blood to heart	Hyvin usein (80–99%)
Premature hardening of arteries	Hyvin usein (80–99%)
Prominent superficial blood vessels	Hyvin usein (80–99%)
Prominent veins	Hyvin usein (80–99%)
Stretched and thinned heart muscle	Hyvin usein (80–99%)
Supraventricular arrhythmia	Hyvin usein (80–99%)
Ventricular hypertrophy	Hyvin usein (80–99%)
Abnormal aortic valve morphology	Usein (30–79%)
Abnormal left ventricular function	Usein (30–79%)
Abnormal mitral valve morphology	Usein (30–79%)
Abnormal myocardium morphology	Usein (30–79%)
Accelerated plaque build-up in arteries	Usein (30–79%)
Interruption of electrical communication between upper and lower chambers of heart	Usein (30–79%)
Left ventricular diastolic dysfunction	Usein (30–79%)
Narrowing and hardening of arteries	Usein (30–79%)
Premature plaque build-up in arteries	Usein (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Usein (30–79%)
Sudden cardiac death	Usein (30–79%)
Ventricular escape rhythm	Usein (30–79%)
An opening in the wall separating the top two chambers of the heart	Joskus (5–29%)
Aortic regurgitation	Joskus (5–29%)
Atrial flutter	Joskus (5–29%)
Bulging of wall of large artery located above heart	Joskus (5–29%)
Complete heart block	Joskus (5–29%)
Enlarged and thickened heart muscle	Joskus (5–29%)
Fluid around heart	Joskus (5–29%)
Heart attack	Joskus (5–29%)
Heart block	Joskus (5–29%)
Heart tip and four chambers point towards right side of body	Joskus (5–29%)
Mini stroke	Joskus (5–29%)
Mitral stenosis	Joskus (5–29%)
Mitral valve prolapse	Joskus (5–29%)
Obstructed carotid artery	Joskus (5–29%)
Paroxysmal atrial fibrillation	Joskus (5–29%)
Paroxysmal atrial tachycardia	Joskus (5–29%)
Premature coronary artery disease	Joskus (5–29%)
Prolonged QT interval	Joskus (5–29%)
Raynaud phenomenon	Joskus (5–29%)
Second degree atrioventricular block	Joskus (5–29%)
Sinoatrial block	Joskus (5–29%)
Sinus bradycardia	Joskus (5–29%)
Stroke	Joskus (5–29%)
Supraventricular tachycardia	Joskus (5–29%)
Transposition of the great arteries	Joskus (5–29%)
Ventricular tachycardia	Joskus (5–29%)
Angina pectoris	Harvinainen (1–4 %)
Increased blood pressure in blood vessels of lungs	Harvinainen (1–4 %)

Abnormality of head or neck

Ominaisuus	Kuinka usein sitä esiintyy
Beaked nose	Aina
Delayed cranial suture closure	Aina
Dental crowding	Aina
Extra bones within cranial sutures	Aina
Full cheeks	Aina
Increased amount of facial fat	Aina
Little lower jaw	Aina
Narrow nose	Aina
Short chin	Aina
Absent eyebrow	Hyvin usein (80–99%)
Absent eyelashes	Hyvin usein (80–99%)
Adhesion of the temporomandibular joint	Hyvin usein (80–99%)
Corners of eye widely separated	Hyvin usein (80–99%)
Decreased bone formation of skull	Hyvin usein (80–99%)
Decreased nasal size	Hyvin usein (80–99%)
Decreased volume of lip	Hyvin usein (80–99%)
Downward slanting of the opening between the eyelids	Hyvin usein (80–99%)
Eyelid folded in	Hyvin usein (80–99%)
Narrow face	Hyvin usein (80–99%)
Narrow mouth	Hyvin usein (80–99%)
Narrow nasal ridge	Hyvin usein (80–99%)
Round face	Hyvin usein (80–99%)
Short opening between the eyelids	Hyvin usein (80–99%)
Sparse eyebrow	Hyvin usein (80–99%)
Sparse or absent eyebrows	Hyvin usein (80–99%)
Sparse or absent eyelashes	Hyvin usein (80–99%)
Stiff neck	Hyvin usein (80–99%)
Submucous cleft hard palate	Hyvin usein (80–99%)
Wide fontanelles	Hyvin usein (80–99%)
Wide nasal bridge	Hyvin usein (80–99%)
Widely patent fontanelles and sutures	Hyvin usein (80–99%)
Abnormality of the eyebrow	Usein (30–79%)
Abnormality of the nasal tip	Usein (30–79%)
Craniofacial disproportion	Usein (30–79%)
Decreased depth of eye sockets	Usein (30–79%)
Decreased size of facial bones	Usein (30–79%)
Early eruption of teeth	Usein (30–79%)
High palate	Usein (30–79%)
Increased fat around the neck	Usein (30–79%)
Mouth tumor	Usein (30–79%)
Narrow nasal tip	Usein (30–79%)
Receding chin	Usein (30–79%)
Relatively large head	Usein (30–79%)
Short lingual frenulum	Usein (30–79%)
Small retruded chin	Usein (30–79%)
Tongue tied	Usein (30–79%)
Abnormal dentition	Joskus (5–29%)
Blockage of the rear opening of the nasal cavity	Joskus (5–29%)
Born with teeth	Joskus (5–29%)
Delayed eruption of teeth	Joskus (5–29%)
Delayed loss of baby teeth	Joskus (5–29%)
Eyelids stay open at night	Joskus (5–29%)
Failure of development of between one and six teeth	Joskus (5–29%)
Impacted tooth	Joskus (5–29%)
Loss of eyelashes	Joskus (5–29%)
Webbed neck	Joskus (5–29%)
Bird-like facial appearance	Ei kirjattu
Decreased size of teeth	Ei kirjattu
Early tooth loss	Ei kirjattu
Midface retrusion	Ei kirjattu
Restricted neck mobility due to contractures	Ei kirjattu
Sparse scalp hair	Ei kirjattu
Zygomatic flattening	Ei kirjattu

Abnormality of limbs

Ominaisuus	Kuinka usein sitä esiintyy
Acroosteolysis of distal phalanges (feet)	Aina
Coxa valga	Aina
Decreased arm strength	Aina
Elbow flexion contracture	Aina
Finger joint contracture	Aina
Foot drop	Aina
Limb-girdle muscle weakness	Aina
Peroneal muscle atrophy	Aina
Peroneal muscle weakness	Aina
Short outermost finger bone	Aina
Abnormal feet structure	Hyvin usein (80–99%)
Abnormality of the Achilles tendon	Hyvin usein (80–99%)
Absent digital bone of the 3rd toe	Hyvin usein (80–99%)
Breakdown of small bones of fingers	Hyvin usein (80–99%)
Distal lower limb muscle weakness	Hyvin usein (80–99%)
Dropped arches	Hyvin usein (80–99%)
Hyporeflexia of lower limbs	Hyvin usein (80–99%)
Increased size of calf muscles	Hyvin usein (80–99%)
Limb-girdle muscular dystrophy	Hyvin usein (80–99%)
Osteolytic defects of the distal phalanges of the hand	Hyvin usein (80–99%)
Proximal upper limb muscle weakness	Hyvin usein (80–99%)
Rocker bottom foot	Hyvin usein (80–99%)
Short palm	Hyvin usein (80–99%)
Shortening of the achilles tendon	Hyvin usein (80–99%)
Structural foot deformity	Hyvin usein (80–99%)
Distal upper limb amyotrophy	Usein (30–79%)
Distal upper limb muscle weakness	Usein (30–79%)
Hammertoe	Usein (30–79%)
Hand muscle degeneration	Usein (30–79%)
Hand muscle weakness	Usein (30–79%)
High-arched foot	Usein (30–79%)
Hip contracture	Usein (30–79%)
Hip dislocation	Usein (30–79%)
Muscle hypertrophy of the lower extremities	Usein (30–79%)
Proximal lower limb muscle weakness	Usein (30–79%)
Proximal upper limb amyotrophy	Usein (30–79%)
Proximal upper limb muscle hypertrophy	Usein (30–79%)
Short fingers or toes	Usein (30–79%)
Toe extensor amyotrophy	Usein (30–79%)
Wasting of thigh muscle	Usein (30–79%)
Winged shoulder blade	Usein (30–79%)
Calf muscle pseudohypertrophy	Joskus (5–29%)
Club feet	Joskus (5–29%)
Curvature of finger	Joskus (5–29%)
Knee contracture	Joskus (5–29%)
Limitation of movement at ankles	Joskus (5–29%)
Limited wrist movement	Joskus (5–29%)
Pelvic girdle muscle atrophy	Joskus (5–29%)
Permanent flexion of the finger	Joskus (5–29%)
Scapular muscle atrophy	Joskus (5–29%)
Shoulder girdle muscle wasting	Joskus (5–29%)
Talipes	Joskus (5–29%)
Upper limb amyotrophy	Joskus (5–29%)
Wrist flexion contracture	Joskus (5–29%)
Absent middle bones of hand	Ei kirjattu
Curvature of digit	Ei kirjattu
Limb muscle weakness	Ei kirjattu
Webbed fingers or toes	Ei kirjattu

Abnormality of the integument

Ominaisuus	Kuinka usein sitä esiintyy
Darkened and thickened skin	Aina
Poikiloderma	Aina
Poor wound healing	Aina
Reduced fat tissue below the skin	Aina
Sclerodactyly	Aina
Stiff skin	Aina
Thick nail	Aina
Thickened skin	Aina
Yellow bumps of fatty deposits on skin	Aina
Abnormal hair quantity	Hyvin usein (80–99%)
Abnormal hair whorl	Hyvin usein (80–99%)
Abnormality of the hair	Hyvin usein (80–99%)
Absent/small skin	Hyvin usein (80–99%)
Alopecia universalis	Hyvin usein (80–99%)
Aplasia/Hypoplasia of the eccrine sweat glands	Hyvin usein (80–99%)
Basal cell carcinoma	Hyvin usein (80–99%)
Brittle nails	Hyvin usein (80–99%)
Dermal translucency	Hyvin usein (80–99%)
Flattened and twisted hair	Hyvin usein (80–99%)
Generalized abnormality of skin	Hyvin usein (80–99%)
Generalized hyperkeratosis	Hyvin usein (80–99%)
Hair loss	Hyvin usein (80–99%)
Hyperkeratosis	Hyvin usein (80–99%)
Minimal fat below the skin	Hyvin usein (80–99%)
Open skin sore	Hyvin usein (80–99%)
Patchy hypo- and hyperpigmentation	Hyvin usein (80–99%)
Premature aged appearance	Hyvin usein (80–99%)
Premature graying of hair	Hyvin usein (80–99%)
Premature skin wrinkling	Hyvin usein (80–99%)
Prematurely aged appearance	Hyvin usein (80–99%)
Scaling skin	Hyvin usein (80–99%)
Scleroderma	Hyvin usein (80–99%)
Skin calcification	Hyvin usein (80–99%)
Skin degeneration	Hyvin usein (80–99%)
Skin erosion	Hyvin usein (80–99%)
Sparse body hair	Hyvin usein (80–99%)
Sparse hair	Hyvin usein (80–99%)
Squamous cell carcinoma of the skin	Hyvin usein (80–99%)
Thin skin	Hyvin usein (80–99%)
Tight skin	Hyvin usein (80–99%)
White part of hair above forehead	Hyvin usein (80–99%)
Abnormality of the nail	Usein (30–79%)
Alopecia totalis	Usein (30–79%)
Blue discoloration of the skin	Usein (30–79%)
Patchy baldness	Usein (30–79%)
Poor fingernail formation	Usein (30–79%)
Poor toenail formation	Usein (30–79%)
Skin cancer	Usein (30–79%)
Excessive hairiness over body	Joskus (5–29%)
Hyperpigmented skin patches	Joskus (5–29%)
Ichthyosis	Joskus (5–29%)
Papule	Joskus (5–29%)
Patchy darkened skin	Joskus (5–29%)
Short nail	Joskus (5–29%)
Excessive hairiness	Ei kirjattu
Mottled skin coloring	Ei kirjattu

Abnormality of the nervous system

Ominaisuus	Kuinka usein sitä esiintyy
Abnormal gait	Aina
Constrictive median neuropathy	Aina
Delayed ability to roll over	Aina
Delayed ability to walk	Aina
Loss of ability to walk	Aina
Waddling gait	Aina
Axonal degeneration	Hyvin usein (80–99%)
Axonal loss	Hyvin usein (80–99%)
Decreased amplitude of sensory action potentials	Hyvin usein (80–99%)
Decreased number of peripheral myelinated nerve fibers	Hyvin usein (80–99%)
Decreased sensation in extremities	Hyvin usein (80–99%)
Diminished deep tendon reflex	Hyvin usein (80–99%)
Motor axonal neuropathy	Hyvin usein (80–99%)
Sensory axonal neuropathy	Hyvin usein (80–99%)
Absent reflexes	Usein (30–79%)
Decreased number of large peripheral myelinated nerve fibers	Usein (30–79%)
Global developmental delay	Usein (30–79%)
High pitched voice	Usein (30–79%)
High stepping	Usein (30–79%)
Noncancerous growth of membranes covering brain	Usein (30–79%)
Shuffled walk	Usein (30–79%)
Toe walking	Usein (30–79%)
Cranial nerve paralysis	Joskus (5–29%)
Decreased number of small peripheral myelinated nerve fibers	Joskus (5–29%)
Inability to walk	Joskus (5–29%)
Intellectual disability	Joskus (5–29%)
Decreased motor nerve conduction velocity	Harvinainen (1–4 %)
Inability to move vocal cords	Harvinainen (1–4 %)
Axonal degeneration/regeneration	Ei kirjattu
Clusters of axonal regeneration	Ei kirjattu
Decreased reflex response	Ei kirjattu
Enlarged peripheral nerve	Ei kirjattu
Motor delay	Ei kirjattu
Onion bulb formation	Ei kirjattu
Peripheral axonal atrophy	Ei kirjattu

Laboratory abnormality

Ominaisuus	Kuinka usein sitä esiintyy
Body fails to respond to insulin	Aina
Elevated blood creatine phosphokinase	Aina
Elevated serum cholesterol	Aina
Glucose intolerance	Aina
Impaired glucose tolerance	Aina
Insulin resistant diabetes	Aina
Diabetes mellitus	Hyvin usein (80–99%)
Fatty infiltration of liver	Hyvin usein (80–99%)
Glucose in urine	Hyvin usein (80–99%)
High blood insulin levels while fasting	Hyvin usein (80–99%)
High blood sugar	Hyvin usein (80–99%)
Hyperinsulinemia	Hyvin usein (80–99%)
Increased plasma triglycerides	Hyvin usein (80–99%)
Noninsulin-dependent diabetes	Hyvin usein (80–99%)
Albuminuria	Usein (30–79%)
Decreased circulating high-density lipoprotein cholesterol	Usein (30–79%)
Elevated circulating alanine aminotransferase concentration	Usein (30–79%)
Elevated circulating aspartate aminotransferase concentration	Usein (30–79%)
Elevated circulating C-reactive protein concentration	Usein (30–79%)
Elevated circulating NT-proBNP concentration	Usein (30–79%)
Elevated lipids in blood	Usein (30–79%)
Fluid retention	Usein (30–79%)
High blood uric acid level	Usein (30–79%)
Highly elevated creatine kinase	Usein (30–79%)
Increased circulating free fatty acid level	Usein (30–79%)
Increased circulating LDL level	Usein (30–79%)
Mildly elevated creatine kinase	Ei kirjattu

Abnormality of the genitourinary system

Ominaisuus	Kuinka usein sitä esiintyy
Abnormality of the testis	Hyvin usein (80–99%)
Decreased fertility	Hyvin usein (80–99%)
Early menopause	Hyvin usein (80–99%)
Papillary renal cell carcinoma	Hyvin usein (80–99%)
Polycystic ovaries	Hyvin usein (80–99%)
Previous menstrual periods stop	Hyvin usein (80–99%)
Kidney cancer	Usein (30–79%)
Ovarian cancer	Usein (30–79%)
Small male external genitalia	Usein (30–79%)
Double ureter	Joskus (5–29%)
Glomerulopathy	Joskus (5–29%)
Hypospadias	Joskus (5–29%)
Painful menstruation	Joskus (5–29%)
Labial pseudohypertrophy	Ei kirjattu

Abnormality of the endocrine system

Ominaisuus	Kuinka usein sitä esiintyy
Abnormal circulating leptin concentration	Hyvin usein (80–99%)
Decreased activity of gonads	Hyvin usein (80–99%)
Delayed puberty	Hyvin usein (80–99%)
Early onset of puberty	Hyvin usein (80–99%)
Hypergonadotropic hypogonadism	Hyvin usein (80–99%)
Pubertal developmental failure in females	Hyvin usein (80–99%)
Pulmonary carcinoid tumor	Hyvin usein (80–99%)
Decreased adiponectin level	Usein (30–79%)
Decreased serum leptin	Usein (30–79%)
Delayed start of first period	Usein (30–79%)
Female hypogonadism	Usein (30–79%)
Neoplasm of the thyroid gland	Usein (30–79%)
Congenital adrenal hypoplasia	Joskus (5–29%)

Abnormality of the digestive system

Ominaisuus	Kuinka usein sitä esiintyy
Enlarged liver	Aina
Abnormal intrahepatic bile duct morphology	Hyvin usein (80–99%)
Prominent belly button	Hyvin usein (80–99%)
Acid reflux	Usein (30–79%)
Acute pancreatic inflammation	Usein (30–79%)
Feeding difficulties	Usein (30–79%)
Rectum protrudes through anus	Usein (30–79%)
Small intestine tumor	Usein (30–79%)
Microcolon	Joskus (5–29%)
Pancreatic inflammation	Joskus (5–29%)
Tube feeding	Joskus (5–29%)

Growth abnormality

Ominaisuus	Kuinka usein sitä esiintyy
Growth delay	Aina
Decreased body weight	Hyvin usein (80–99%)
Faltering weight	Hyvin usein (80–99%)
Prenatal growth deficiency	Hyvin usein (80–99%)
Severe faltering weight	Hyvin usein (80–99%)
Short stature	Hyvin usein (80–99%)
Weight loss	Hyvin usein (80–99%)
Overweight	Usein (30–79%)
Obesity	Joskus (5–29%)
Wasting syndrome	Joskus (5–29%)
Growth delay as children	Ei kirjattu

Abnormality of the eye

Ominaisuus	Kuinka usein sitä esiintyy
Bulging eye	Aina
Abnormal retinal pigmentation	Hyvin usein (80–99%)
Drooping upper eyelid	Hyvin usein (80–99%)
Wide-set eyes	Hyvin usein (80–99%)
Retina degeneration	Usein (30–79%)
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%)
Corneal ulceration	Harvinainen (1–4 %)

Abnormality of the respiratory system

Ominaisuus	Kuinka usein sitä esiintyy
Exertional breathlessness	Aina
Emphysema	Hyvin usein (80–99%)
Poorly developed lungs	Hyvin usein (80–99%)
Softening of voice box tissue	Hyvin usein (80–99%)
Breathing difficulties	Usein (30–79%)
Lung cancer	Usein (30–79%)
Orthopnea	Usein (30–79%)
Respiratory function loss	Usein (30–79%)
Upper airway obstruction	Joskus (5–29%)

Abnormality of prenatal development or birth

Ominaisuus	Kuinka usein sitä esiintyy
Less than 10 fetal movements in 12 hours	Hyvin usein (80–99%)
Premature birth	Hyvin usein (80–99%)
Premature delivery because of cervical insufficiency or membrane fragility	Hyvin usein (80–99%)
Short umbilical cord	Hyvin usein (80–99%)
Small placenta	Hyvin usein (80–99%)
Fetal distress	Usein (30–79%)
High levels of amniotic fluid	Joskus (5–29%)
Large placenta	Joskus (5–29%)

Abnormality of the ear

Ominaisuus	Kuinka usein sitä esiintyy
Small ears	Aina
Conductive deafness	Hyvin usein (80–99%)
Low-set ears	Hyvin usein (80–99%)
Low-frequency sensorineural hearing impairment	Usein (30–79%)
Hearing impairment	Joskus (5–29%)
High-frequency sensorineural hearing impairment	Joskus (5–29%)
Prominent ear helix	Joskus (5–29%)
Sensorineural hearing impairment	Joskus (5–29%)

Constitutional symptom

Ominaisuus	Kuinka usein sitä esiintyy
Exercise-induced muscle pain	Aina
Fatigue	Aina
Hip pain	Joskus (5–29%)
Joint pain	Joskus (5–29%)
Muscle ache	Joskus (5–29%)

Abnormality of blood and blood-forming tissues

Ominaisuus	Kuinka usein sitä esiintyy
Bleeding within the skull	Hyvin usein (80–99%)
Elevated hemoglobin A1c	Usein (30–79%)
Thromboembolic stroke	Joskus (5–29%)

Abnormal cellular phenotype

Ominaisuus	Kuinka usein sitä esiintyy
Abnormal cellular phenotype	Hyvin usein (80–99%)
Abnormal lymphocyte physiology	Joskus (5–29%)

Abnormality of the breast

Ominaisuus	Kuinka usein sitä esiintyy
Breast tumor	Usein (30–79%)
Absent breast	Joskus (5–29%)

Abnormality of the immune system

Ominaisuus	Kuinka usein sitä esiintyy
Abnormality of complement system	Joskus (5–29%)

Abnormality of the voice

Ominaisuus	Kuinka usein sitä esiintyy
Abnormality of the voice	Hyvin usein (80–99%)

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: LMNA-geeniin yhdistetyt ominaisuudet ja kunkin esiintymistiheys. Lisätietoja osoitteesta hpo.jax.org.

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