Tunnused

Geeniga LMNA seotud tunnused

lamin A/C

Inimese fenotüübi ontoloogia seostab geeniga LMNA 501 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the musculoskeletal system

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

Abnormality of the cardiovascular system

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

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the integument

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

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormal gait	Alati
Constrictive median neuropathy	Alati
Delayed ability to roll over	Alati
Delayed ability to walk	Alati
Loss of ability to walk	Alati
Waddling gait	Alati
Axonal degeneration	Väga sageli (80–99%)
Axonal loss	Väga sageli (80–99%)
Decreased amplitude of sensory action potentials	Väga sageli (80–99%)
Decreased number of peripheral myelinated nerve fibers	Väga sageli (80–99%)
Decreased sensation in extremities	Väga sageli (80–99%)
Diminished deep tendon reflex	Väga sageli (80–99%)
Motor axonal neuropathy	Väga sageli (80–99%)
Sensory axonal neuropathy	Väga sageli (80–99%)
Absent reflexes	Sageli (30–79%)
Decreased number of large peripheral myelinated nerve fibers	Sageli (30–79%)
Global developmental delay	Sageli (30–79%)
High pitched voice	Sageli (30–79%)
High stepping	Sageli (30–79%)
Noncancerous growth of membranes covering brain	Sageli (30–79%)
Shuffled walk	Sageli (30–79%)
Toe walking	Sageli (30–79%)
Cranial nerve paralysis	Mõnikord (5–29%)
Decreased number of small peripheral myelinated nerve fibers	Mõnikord (5–29%)
Inability to walk	Mõnikord (5–29%)
Intellectual disability	Mõnikord (5–29%)
Decreased motor nerve conduction velocity	Harva (1–4%)
Inability to move vocal cords	Harva (1–4%)
Axonal degeneration/regeneration	Pole registreeritud
Clusters of axonal regeneration	Pole registreeritud
Decreased reflex response	Pole registreeritud
Enlarged peripheral nerve	Pole registreeritud
Motor delay	Pole registreeritud
Onion bulb formation	Pole registreeritud
Peripheral axonal atrophy	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Body fails to respond to insulin	Alati
Elevated blood creatine phosphokinase	Alati
Elevated serum cholesterol	Alati
Glucose intolerance	Alati
Impaired glucose tolerance	Alati
Insulin resistant diabetes	Alati
Diabetes mellitus	Väga sageli (80–99%)
Fatty infiltration of liver	Väga sageli (80–99%)
Glucose in urine	Väga sageli (80–99%)
High blood insulin levels while fasting	Väga sageli (80–99%)
High blood sugar	Väga sageli (80–99%)
Hyperinsulinemia	Väga sageli (80–99%)
Increased plasma triglycerides	Väga sageli (80–99%)
Noninsulin-dependent diabetes	Väga sageli (80–99%)
Albuminuria	Sageli (30–79%)
Decreased circulating high-density lipoprotein cholesterol	Sageli (30–79%)
Elevated circulating alanine aminotransferase concentration	Sageli (30–79%)
Elevated circulating aspartate aminotransferase concentration	Sageli (30–79%)
Elevated circulating C-reactive protein concentration	Sageli (30–79%)
Elevated circulating NT-proBNP concentration	Sageli (30–79%)
Elevated lipids in blood	Sageli (30–79%)
Fluid retention	Sageli (30–79%)
High blood uric acid level	Sageli (30–79%)
Highly elevated creatine kinase	Sageli (30–79%)
Increased circulating free fatty acid level	Sageli (30–79%)
Increased circulating LDL level	Sageli (30–79%)
Mildly elevated creatine kinase	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the testis	Väga sageli (80–99%)
Decreased fertility	Väga sageli (80–99%)
Early menopause	Väga sageli (80–99%)
Papillary renal cell carcinoma	Väga sageli (80–99%)
Polycystic ovaries	Väga sageli (80–99%)
Previous menstrual periods stop	Väga sageli (80–99%)
Kidney cancer	Sageli (30–79%)
Ovarian cancer	Sageli (30–79%)
Small male external genitalia	Sageli (30–79%)
Double ureter	Mõnikord (5–29%)
Glomerulopathy	Mõnikord (5–29%)
Hypospadias	Mõnikord (5–29%)
Painful menstruation	Mõnikord (5–29%)
Labial pseudohypertrophy	Pole registreeritud

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Abnormal circulating leptin concentration	Väga sageli (80–99%)
Decreased activity of gonads	Väga sageli (80–99%)
Delayed puberty	Väga sageli (80–99%)
Early onset of puberty	Väga sageli (80–99%)
Hypergonadotropic hypogonadism	Väga sageli (80–99%)
Pubertal developmental failure in females	Väga sageli (80–99%)
Pulmonary carcinoid tumor	Väga sageli (80–99%)
Decreased adiponectin level	Sageli (30–79%)
Decreased serum leptin	Sageli (30–79%)
Delayed start of first period	Sageli (30–79%)
Female hypogonadism	Sageli (30–79%)
Neoplasm of the thyroid gland	Sageli (30–79%)
Congenital adrenal hypoplasia	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Enlarged liver	Alati
Abnormal intrahepatic bile duct morphology	Väga sageli (80–99%)
Prominent belly button	Väga sageli (80–99%)
Acid reflux	Sageli (30–79%)
Acute pancreatic inflammation	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Rectum protrudes through anus	Sageli (30–79%)
Small intestine tumor	Sageli (30–79%)
Microcolon	Mõnikord (5–29%)
Pancreatic inflammation	Mõnikord (5–29%)
Tube feeding	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Growth delay	Alati
Decreased body weight	Väga sageli (80–99%)
Faltering weight	Väga sageli (80–99%)
Prenatal growth deficiency	Väga sageli (80–99%)
Severe faltering weight	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)
Weight loss	Väga sageli (80–99%)
Overweight	Sageli (30–79%)
Obesity	Mõnikord (5–29%)
Wasting syndrome	Mõnikord (5–29%)
Growth delay as children	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Bulging eye	Alati
Abnormal retinal pigmentation	Väga sageli (80–99%)
Drooping upper eyelid	Väga sageli (80–99%)
Wide-set eyes	Väga sageli (80–99%)
Retina degeneration	Sageli (30–79%)
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%)
Corneal ulceration	Harva (1–4%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Exertional breathlessness	Alati
Emphysema	Väga sageli (80–99%)
Poorly developed lungs	Väga sageli (80–99%)
Softening of voice box tissue	Väga sageli (80–99%)
Breathing difficulties	Sageli (30–79%)
Lung cancer	Sageli (30–79%)
Orthopnea	Sageli (30–79%)
Respiratory function loss	Sageli (30–79%)
Upper airway obstruction	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Less than 10 fetal movements in 12 hours	Väga sageli (80–99%)
Premature birth	Väga sageli (80–99%)
Premature delivery because of cervical insufficiency or membrane fragility	Väga sageli (80–99%)
Short umbilical cord	Väga sageli (80–99%)
Small placenta	Väga sageli (80–99%)
Fetal distress	Sageli (30–79%)
High levels of amniotic fluid	Mõnikord (5–29%)
Large placenta	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Small ears	Alati
Conductive deafness	Väga sageli (80–99%)
Low-set ears	Väga sageli (80–99%)
Low-frequency sensorineural hearing impairment	Sageli (30–79%)
Hearing impairment	Mõnikord (5–29%)
High-frequency sensorineural hearing impairment	Mõnikord (5–29%)
Prominent ear helix	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Exercise-induced muscle pain	Alati
Fatigue	Alati
Hip pain	Mõnikord (5–29%)
Joint pain	Mõnikord (5–29%)
Muscle ache	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Bleeding within the skull	Väga sageli (80–99%)
Elevated hemoglobin A1c	Sageli (30–79%)
Thromboembolic stroke	Mõnikord (5–29%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Abnormal cellular phenotype	Väga sageli (80–99%)
Abnormal lymphocyte physiology	Mõnikord (5–29%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Breast tumor	Sageli (30–79%)
Absent breast	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Abnormality of complement system	Mõnikord (5–29%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Abnormality of the voice	Väga sageli (80–99%)

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 LMNA seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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