Egenskaber

Egenskaber knyttet til LMNA

lamin A/C

Human Phenotype Ontology knytter 501 egenskaber til LMNA, opdelt efter kropssystem: træk, der ses hos personer med en af genets sjældne sygdomme.

Abnormality of the musculoskeletal system

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

Abnormality of the cardiovascular system

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

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the integument

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

Abnormality of the nervous system

Egenskab	Hvor ofte det ses
Abnormal gait	Altid
Constrictive median neuropathy	Altid
Delayed ability to roll over	Altid
Delayed ability to walk	Altid
Loss of ability to walk	Altid
Waddling gait	Altid
Axonal degeneration	Meget ofte (80–99 %)
Axonal loss	Meget ofte (80–99 %)
Decreased amplitude of sensory action potentials	Meget ofte (80–99 %)
Decreased number of peripheral myelinated nerve fibers	Meget ofte (80–99 %)
Decreased sensation in extremities	Meget ofte (80–99 %)
Diminished deep tendon reflex	Meget ofte (80–99 %)
Motor axonal neuropathy	Meget ofte (80–99 %)
Sensory axonal neuropathy	Meget ofte (80–99 %)
Absent reflexes	Ofte (30–79 %)
Decreased number of large peripheral myelinated nerve fibers	Ofte (30–79 %)
Global developmental delay	Ofte (30–79 %)
High pitched voice	Ofte (30–79 %)
High stepping	Ofte (30–79 %)
Noncancerous growth of membranes covering brain	Ofte (30–79 %)
Shuffled walk	Ofte (30–79 %)
Toe walking	Ofte (30–79 %)
Cranial nerve paralysis	Nogle gange (5–29 %)
Decreased number of small peripheral myelinated nerve fibers	Nogle gange (5–29 %)
Inability to walk	Nogle gange (5–29 %)
Intellectual disability	Nogle gange (5–29 %)
Decreased motor nerve conduction velocity	Sjældent (1–4%)
Inability to move vocal cords	Sjældent (1–4%)
Axonal degeneration/regeneration	Ikke registreret
Clusters of axonal regeneration	Ikke registreret
Decreased reflex response	Ikke registreret
Enlarged peripheral nerve	Ikke registreret
Motor delay	Ikke registreret
Onion bulb formation	Ikke registreret
Peripheral axonal atrophy	Ikke registreret

Laboratory abnormality

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

Abnormality of the genitourinary system

Egenskab	Hvor ofte det ses
Abnormality of the testis	Meget ofte (80–99 %)
Decreased fertility	Meget ofte (80–99 %)
Early menopause	Meget ofte (80–99 %)
Papillary renal cell carcinoma	Meget ofte (80–99 %)
Polycystic ovaries	Meget ofte (80–99 %)
Previous menstrual periods stop	Meget ofte (80–99 %)
Kidney cancer	Ofte (30–79 %)
Ovarian cancer	Ofte (30–79 %)
Small male external genitalia	Ofte (30–79 %)
Double ureter	Nogle gange (5–29 %)
Glomerulopathy	Nogle gange (5–29 %)
Hypospadias	Nogle gange (5–29 %)
Painful menstruation	Nogle gange (5–29 %)
Labial pseudohypertrophy	Ikke registreret

Abnormality of the endocrine system

Egenskab	Hvor ofte det ses
Abnormal circulating leptin concentration	Meget ofte (80–99 %)
Decreased activity of gonads	Meget ofte (80–99 %)
Delayed puberty	Meget ofte (80–99 %)
Early onset of puberty	Meget ofte (80–99 %)
Hypergonadotropic hypogonadism	Meget ofte (80–99 %)
Pubertal developmental failure in females	Meget ofte (80–99 %)
Pulmonary carcinoid tumor	Meget ofte (80–99 %)
Decreased adiponectin level	Ofte (30–79 %)
Decreased serum leptin	Ofte (30–79 %)
Delayed start of first period	Ofte (30–79 %)
Female hypogonadism	Ofte (30–79 %)
Neoplasm of the thyroid gland	Ofte (30–79 %)
Congenital adrenal hypoplasia	Nogle gange (5–29 %)

Abnormality of the digestive system

Egenskab	Hvor ofte det ses
Enlarged liver	Altid
Abnormal intrahepatic bile duct morphology	Meget ofte (80–99 %)
Prominent belly button	Meget ofte (80–99 %)
Acid reflux	Ofte (30–79 %)
Acute pancreatic inflammation	Ofte (30–79 %)
Feeding difficulties	Ofte (30–79 %)
Rectum protrudes through anus	Ofte (30–79 %)
Small intestine tumor	Ofte (30–79 %)
Microcolon	Nogle gange (5–29 %)
Pancreatic inflammation	Nogle gange (5–29 %)
Tube feeding	Nogle gange (5–29 %)

Growth abnormality

Egenskab	Hvor ofte det ses
Growth delay	Altid
Decreased body weight	Meget ofte (80–99 %)
Faltering weight	Meget ofte (80–99 %)
Prenatal growth deficiency	Meget ofte (80–99 %)
Severe faltering weight	Meget ofte (80–99 %)
Short stature	Meget ofte (80–99 %)
Weight loss	Meget ofte (80–99 %)
Overweight	Ofte (30–79 %)
Obesity	Nogle gange (5–29 %)
Wasting syndrome	Nogle gange (5–29 %)
Growth delay as children	Ikke registreret

Abnormality of the eye

Egenskab	Hvor ofte det ses
Bulging eye	Altid
Abnormal retinal pigmentation	Meget ofte (80–99 %)
Drooping upper eyelid	Meget ofte (80–99 %)
Wide-set eyes	Meget ofte (80–99 %)
Retina degeneration	Ofte (30–79 %)
Clouding of the lens of the eye	Nogle gange (5–29 %)
Clouding of the lens of the eye at birth	Nogle gange (5–29 %)
Corneal opacity	Nogle gange (5–29 %)
Corneal ulceration	Sjældent (1–4%)

Abnormality of the respiratory system

Egenskab	Hvor ofte det ses
Exertional breathlessness	Altid
Emphysema	Meget ofte (80–99 %)
Poorly developed lungs	Meget ofte (80–99 %)
Softening of voice box tissue	Meget ofte (80–99 %)
Breathing difficulties	Ofte (30–79 %)
Lung cancer	Ofte (30–79 %)
Orthopnea	Ofte (30–79 %)
Respiratory function loss	Ofte (30–79 %)
Upper airway obstruction	Nogle gange (5–29 %)

Abnormality of prenatal development or birth

Egenskab	Hvor ofte det ses
Less than 10 fetal movements in 12 hours	Meget ofte (80–99 %)
Premature birth	Meget ofte (80–99 %)
Premature delivery because of cervical insufficiency or membrane fragility	Meget ofte (80–99 %)
Short umbilical cord	Meget ofte (80–99 %)
Small placenta	Meget ofte (80–99 %)
Fetal distress	Ofte (30–79 %)
High levels of amniotic fluid	Nogle gange (5–29 %)
Large placenta	Nogle gange (5–29 %)

Abnormality of the ear

Egenskab	Hvor ofte det ses
Small ears	Altid
Conductive deafness	Meget ofte (80–99 %)
Low-set ears	Meget ofte (80–99 %)
Low-frequency sensorineural hearing impairment	Ofte (30–79 %)
Hearing impairment	Nogle gange (5–29 %)
High-frequency sensorineural hearing impairment	Nogle gange (5–29 %)
Prominent ear helix	Nogle gange (5–29 %)
Sensorineural hearing impairment	Nogle gange (5–29 %)

Constitutional symptom

Egenskab	Hvor ofte det ses
Exercise-induced muscle pain	Altid
Fatigue	Altid
Hip pain	Nogle gange (5–29 %)
Joint pain	Nogle gange (5–29 %)
Muscle ache	Nogle gange (5–29 %)

Abnormality of blood and blood-forming tissues

Egenskab	Hvor ofte det ses
Bleeding within the skull	Meget ofte (80–99 %)
Elevated hemoglobin A1c	Ofte (30–79 %)
Thromboembolic stroke	Nogle gange (5–29 %)

Abnormal cellular phenotype

Egenskab	Hvor ofte det ses
Abnormal cellular phenotype	Meget ofte (80–99 %)
Abnormal lymphocyte physiology	Nogle gange (5–29 %)

Abnormality of the breast

Egenskab	Hvor ofte det ses
Breast tumor	Ofte (30–79 %)
Absent breast	Nogle gange (5–29 %)

Abnormality of the immune system

Egenskab	Hvor ofte det ses
Abnormality of complement system	Nogle gange (5–29 %)

Abnormality of the voice

Egenskab	Hvor ofte det ses
Abnormality of the voice	Meget ofte (80–99 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

Human Phenotype Ontology, version 2026-09-01: egenskaberne knyttet til LMNA og hvor ofte hver enkelt ses. Læs mere på hpo.jax.org.

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