Trăsături

Trăsături asociate cu LMNA

lamin A/C

Human Phenotype Ontology asociază 501 trăsături cu LMNA, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the musculoskeletal system

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

Abnormality of the cardiovascular system

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

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the integument

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

Abnormality of the nervous system

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

Laboratory abnormality

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

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the testis	Foarte des (80–99%)
Decreased fertility	Foarte des (80–99%)
Early menopause	Foarte des (80–99%)
Papillary renal cell carcinoma	Foarte des (80–99%)
Polycystic ovaries	Foarte des (80–99%)
Previous menstrual periods stop	Foarte des (80–99%)
Kidney cancer	Des (30–79%)
Ovarian cancer	Des (30–79%)
Small male external genitalia	Des (30–79%)
Double ureter	Uneori (5–29%)
Glomerulopathy	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Painful menstruation	Uneori (5–29%)
Labial pseudohypertrophy	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Abnormal circulating leptin concentration	Foarte des (80–99%)
Decreased activity of gonads	Foarte des (80–99%)
Delayed puberty	Foarte des (80–99%)
Early onset of puberty	Foarte des (80–99%)
Hypergonadotropic hypogonadism	Foarte des (80–99%)
Pubertal developmental failure in females	Foarte des (80–99%)
Pulmonary carcinoid tumor	Foarte des (80–99%)
Decreased adiponectin level	Des (30–79%)
Decreased serum leptin	Des (30–79%)
Delayed start of first period	Des (30–79%)
Female hypogonadism	Des (30–79%)
Neoplasm of the thyroid gland	Des (30–79%)
Congenital adrenal hypoplasia	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged liver	Întotdeauna
Abnormal intrahepatic bile duct morphology	Foarte des (80–99%)
Prominent belly button	Foarte des (80–99%)
Acid reflux	Des (30–79%)
Acute pancreatic inflammation	Des (30–79%)
Feeding difficulties	Des (30–79%)
Rectum protrudes through anus	Des (30–79%)
Small intestine tumor	Des (30–79%)
Microcolon	Uneori (5–29%)
Pancreatic inflammation	Uneori (5–29%)
Tube feeding	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Întotdeauna
Decreased body weight	Foarte des (80–99%)
Faltering weight	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)
Severe faltering weight	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Weight loss	Foarte des (80–99%)
Overweight	Des (30–79%)
Obesity	Uneori (5–29%)
Wasting syndrome	Uneori (5–29%)
Growth delay as children	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Întotdeauna
Abnormal retinal pigmentation	Foarte des (80–99%)
Drooping upper eyelid	Foarte des (80–99%)
Wide-set eyes	Foarte des (80–99%)
Retina degeneration	Des (30–79%)
Clouding of the lens of the eye	Uneori (5–29%)
Clouding of the lens of the eye at birth	Uneori (5–29%)
Corneal opacity	Uneori (5–29%)
Corneal ulceration	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Exertional breathlessness	Întotdeauna
Emphysema	Foarte des (80–99%)
Poorly developed lungs	Foarte des (80–99%)
Softening of voice box tissue	Foarte des (80–99%)
Breathing difficulties	Des (30–79%)
Lung cancer	Des (30–79%)
Orthopnea	Des (30–79%)
Respiratory function loss	Des (30–79%)
Upper airway obstruction	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Foarte des (80–99%)
Premature birth	Foarte des (80–99%)
Premature delivery because of cervical insufficiency or membrane fragility	Foarte des (80–99%)
Short umbilical cord	Foarte des (80–99%)
Small placenta	Foarte des (80–99%)
Fetal distress	Des (30–79%)
High levels of amniotic fluid	Uneori (5–29%)
Large placenta	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Small ears	Întotdeauna
Conductive deafness	Foarte des (80–99%)
Low-set ears	Foarte des (80–99%)
Low-frequency sensorineural hearing impairment	Des (30–79%)
Hearing impairment	Uneori (5–29%)
High-frequency sensorineural hearing impairment	Uneori (5–29%)
Prominent ear helix	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Exercise-induced muscle pain	Întotdeauna
Fatigue	Întotdeauna
Hip pain	Uneori (5–29%)
Joint pain	Uneori (5–29%)
Muscle ache	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding within the skull	Foarte des (80–99%)
Elevated hemoglobin A1c	Des (30–79%)
Thromboembolic stroke	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Abnormal cellular phenotype	Foarte des (80–99%)
Abnormal lymphocyte physiology	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Breast tumor	Des (30–79%)
Absent breast	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Abnormality of complement system	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Abnormality of the voice	Foarte des (80–99%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu LMNA și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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