Požymiai

Su LMNA susiję požymiai

lamin A/C

Žmogaus fenotipo ontologija sieja 501 požymį su LMNA: tai požymis, pastebimas žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the musculoskeletal system

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

Abnormality of the cardiovascular system

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

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the integument

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

Abnormality of the nervous system

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

Laboratory abnormality

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

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the testis	Labai dažnai (80–99%)
Decreased fertility	Labai dažnai (80–99%)
Early menopause	Labai dažnai (80–99%)
Papillary renal cell carcinoma	Labai dažnai (80–99%)
Polycystic ovaries	Labai dažnai (80–99%)
Previous menstrual periods stop	Labai dažnai (80–99%)
Kidney cancer	Dažnai (30–79%)
Ovarian cancer	Dažnai (30–79%)
Small male external genitalia	Dažnai (30–79%)
Double ureter	Kartais (5–29%)
Glomerulopathy	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Painful menstruation	Kartais (5–29%)
Labial pseudohypertrophy	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Abnormal circulating leptin concentration	Labai dažnai (80–99%)
Decreased activity of gonads	Labai dažnai (80–99%)
Delayed puberty	Labai dažnai (80–99%)
Early onset of puberty	Labai dažnai (80–99%)
Hypergonadotropic hypogonadism	Labai dažnai (80–99%)
Pubertal developmental failure in females	Labai dažnai (80–99%)
Pulmonary carcinoid tumor	Labai dažnai (80–99%)
Decreased adiponectin level	Dažnai (30–79%)
Decreased serum leptin	Dažnai (30–79%)
Delayed start of first period	Dažnai (30–79%)
Female hypogonadism	Dažnai (30–79%)
Neoplasm of the thyroid gland	Dažnai (30–79%)
Congenital adrenal hypoplasia	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Enlarged liver	Visada
Abnormal intrahepatic bile duct morphology	Labai dažnai (80–99%)
Prominent belly button	Labai dažnai (80–99%)
Acid reflux	Dažnai (30–79%)
Acute pancreatic inflammation	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Rectum protrudes through anus	Dažnai (30–79%)
Small intestine tumor	Dažnai (30–79%)
Microcolon	Kartais (5–29%)
Pancreatic inflammation	Kartais (5–29%)
Tube feeding	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay	Visada
Decreased body weight	Labai dažnai (80–99%)
Faltering weight	Labai dažnai (80–99%)
Prenatal growth deficiency	Labai dažnai (80–99%)
Severe faltering weight	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Weight loss	Labai dažnai (80–99%)
Overweight	Dažnai (30–79%)
Obesity	Kartais (5–29%)
Wasting syndrome	Kartais (5–29%)
Growth delay as children	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Bulging eye	Visada
Abnormal retinal pigmentation	Labai dažnai (80–99%)
Drooping upper eyelid	Labai dažnai (80–99%)
Wide-set eyes	Labai dažnai (80–99%)
Retina degeneration	Dažnai (30–79%)
Clouding of the lens of the eye	Kartais (5–29%)
Clouding of the lens of the eye at birth	Kartais (5–29%)
Corneal opacity	Kartais (5–29%)
Corneal ulceration	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Exertional breathlessness	Visada
Emphysema	Labai dažnai (80–99%)
Poorly developed lungs	Labai dažnai (80–99%)
Softening of voice box tissue	Labai dažnai (80–99%)
Breathing difficulties	Dažnai (30–79%)
Lung cancer	Dažnai (30–79%)
Orthopnea	Dažnai (30–79%)
Respiratory function loss	Dažnai (30–79%)
Upper airway obstruction	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Less than 10 fetal movements in 12 hours	Labai dažnai (80–99%)
Premature birth	Labai dažnai (80–99%)
Premature delivery because of cervical insufficiency or membrane fragility	Labai dažnai (80–99%)
Short umbilical cord	Labai dažnai (80–99%)
Small placenta	Labai dažnai (80–99%)
Fetal distress	Dažnai (30–79%)
High levels of amniotic fluid	Kartais (5–29%)
Large placenta	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Small ears	Visada
Conductive deafness	Labai dažnai (80–99%)
Low-set ears	Labai dažnai (80–99%)
Low-frequency sensorineural hearing impairment	Dažnai (30–79%)
Hearing impairment	Kartais (5–29%)
High-frequency sensorineural hearing impairment	Kartais (5–29%)
Prominent ear helix	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Exercise-induced muscle pain	Visada
Fatigue	Visada
Hip pain	Kartais (5–29%)
Joint pain	Kartais (5–29%)
Muscle ache	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bleeding within the skull	Labai dažnai (80–99%)
Elevated hemoglobin A1c	Dažnai (30–79%)
Thromboembolic stroke	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Abnormal cellular phenotype	Labai dažnai (80–99%)
Abnormal lymphocyte physiology	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Breast tumor	Dažnai (30–79%)
Absent breast	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Abnormality of complement system	Kartais (5–29%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Abnormality of the voice	Labai dažnai (80–99%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su LMNA susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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