Požymiai

Su FLNA susiję požymiai

filamin A

Žmogaus fenotipo ontologija sieja 395 požymių su FLNA, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Abnormality of radial diaphysis	Visada
Bowed legs	Visada
Bowed shankbone	Visada
Bowed thighbone	Visada
Bowing of the arm	Visada
Bowing of the long bones	Visada
Broad thumb	Visada
Cone-shaped end part of the outermost hand bones	Visada
Coxa valga	Visada
Curvature of digit	Visada
Curving of inner forearm bone	Visada
Erlenmeyer flask shaped thighbone	Visada
Knock knees	Visada
Short finger	Visada
Short outermost finger bone	Visada
Webbed fingers or toes	Visada
Abnormality of the wide portion of a long bone	Labai dažnai (80–99%)
Gap between 1st and 2nd toes	Labai dažnai (80–99%)
Interphalangeal joint contracture of finger	Labai dažnai (80–99%)
Joint contracture of the hand	Labai dažnai (80–99%)
Long fingers	Labai dažnai (80–99%)
Permanent flexion of the finger	Labai dažnai (80–99%)
Short big toe	Labai dažnai (80–99%)
Short finger bones	Labai dažnai (80–99%)
Short fingers or toes	Labai dažnai (80–99%)
Short thumb	Labai dažnai (80–99%)
Abnormal shape of long bones of hand	Dažnai (30–79%)
Absent calf bone	Dažnai (30–79%)
Attachment of thumb close to wrist	Dažnai (30–79%)
Breakdown of small bones of fingers	Dažnai (30–79%)
Broad wide portion of long bone	Dažnai (30–79%)
Cone-shaped end part of finger bones	Dažnai (30–79%)
Dislocated radial head	Dažnai (30–79%)
Elbow dislocation	Dažnai (30–79%)
Elbow flexion contracture	Dažnai (30–79%)
Hip dislocation	Dažnai (30–79%)
Limitation of knee mobility	Dažnai (30–79%)
Limitation of movement at ankles	Dažnai (30–79%)
Limited elbow movement	Dažnai (30–79%)
Limited wrist movement	Dažnai (30–79%)
Long slender fingers	Dažnai (30–79%)
Metacarpophalangeal joint contracture	Dažnai (30–79%)
Pes valgus	Dažnai (30–79%)
Short long bone of foot	Dažnai (30–79%)
Short outermost bone of the thumb	Dažnai (30–79%)
Short palm	Dažnai (30–79%)
Short shaft of long bone	Dažnai (30–79%)
Shortened long bone of hand	Dažnai (30–79%)
Ulnar deviation of the hand	Dažnai (30–79%)
Wrist flexion contracture	Dažnai (30–79%)
Abnormal ankle bones	Kartais (5–29%)
Degeneration of small hand muscles	Kartais (5–29%)
Dislocated kneecap	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
Fused ankle bones	Kartais (5–29%)
Fused wrist bones	Kartais (5–29%)
Fusion of wrist bones	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Mesomelic arm shortening	Kartais (5–29%)
Mesomelic leg shortening	Kartais (5–29%)
Osteolysis involving bones of the lower limbs	Kartais (5–29%)
Osteolysis involving bones of the upper limbs	Kartais (5–29%)
Preaxial polydactyly	Kartais (5–29%)
Progressive bowing of long bones	Kartais (5–29%)
Single transverse palmar crease	Kartais (5–29%)
Underdeveloped shoulder muscle	Kartais (5–29%)
Abnormal foot bone ossification	Neužfiksuota
Abnormal maturation of the hand bones	Neužfiksuota
Abnormality of the 5th long bone of foot	Neužfiksuota
Abnormality of the lower limb	Neužfiksuota
Ankle flexion contracture	Neužfiksuota
Bipartite calcaneus	Neužfiksuota
Bowing of outer large bone of the forearm	Neužfiksuota
Broad big toe	Neužfiksuota
Broad outermost bone of the thumb	Neužfiksuota
Broad outermost finger bone	Neužfiksuota
Bulbous tips of toes	Neužfiksuota
Camptodactyly of toe	Neužfiksuota
Capitate-hamate fusion	Neužfiksuota
Club feet	Neužfiksuota
Dislocated hip since birth	Neužfiksuota
Extra little finger	Neužfiksuota
Extra wrist bones	Neužfiksuota
Flared wide portion of long bone	Neužfiksuota
Fused toes	Neužfiksuota
Inability to straighten knee	Neužfiksuota
Increased density of shaft of long bone	Neužfiksuota
Irregular long bones of hand	Neužfiksuota
Lateral femoral bowing	Neužfiksuota
Limited elbow extension	Neužfiksuota
Limited knee flexion	Neužfiksuota
Long finger bone	Neužfiksuota
Long foot	Neužfiksuota
Nonossified fifth metatarsal	Neužfiksuota
Overlapping fingers	Neužfiksuota
Partial fusion of carpals	Neužfiksuota
Partial fusion of tarsals	Neužfiksuota
Radial deviation of the 2nd finger	Neužfiksuota
Rocker bottom foot	Neužfiksuota
Short humerus	Neužfiksuota
Short toe	Neužfiksuota
Shortened 3rd long bone of hand	Neužfiksuota
Shortened 4th long bone of hand	Neužfiksuota
Shortened 5th long bone of hand	Neužfiksuota
Small to absent calf bone	Neužfiksuota
Toe curvature	Neužfiksuota
Wide hand bones	Neužfiksuota
Winged shoulder blade	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormal facial shape	Visada
Bad bite	Visada
Big calvaria	Visada
Cleft palate	Visada
Deep philtrum	Visada
Dense bone of skull base	Visada
Deviated nasal septum	Visada
Extra bones within cranial sutures	Visada
Fetal cystic hygroma	Visada
Flat sella turcica	Visada
Full cheeks	Visada
High palate	Visada
Highly arched eyebrow	Visada
Increased size of nasopharyngeal adenoids	Visada
Increased thickness of skull cap	Visada
Little lower jaw	Visada
Monobrow	Visada
Narrow forehead	Visada
Narrow mouth	Visada
Nasal inflammation	Visada
Prominent brow	Visada
Prominent forehead	Visada
Prominent nasal tip	Visada
Receding chin	Visada
Short neck	Visada
Small face	Visada
Sparse lower eyelashes	Visada
Sparse upper eyelashes	Visada
Thick eyebrow	Visada
Triangular face	Visada
Underdeveloped tissue around nostril	Visada
Wide nasal base	Visada
Wide nasal bridge	Visada
Wider-than-typical soft spot of skull	Visada
Widow's peak	Visada
Born with teeth	Labai dažnai (80–99%)
Broad forehead	Labai dažnai (80–99%)
Delayed cranial suture closure	Labai dažnai (80–99%)
Depressed nasal bridge	Labai dažnai (80–99%)
Downward slanting of the opening between the eyelids	Labai dažnai (80–99%)
Failure of development of all teeth	Labai dažnai (80–99%)
Failure of development of more than six teeth	Labai dažnai (80–99%)
Short nose	Labai dažnai (80–99%)
Wide fontanelles	Labai dažnai (80–99%)
Zygomatic flattening	Labai dažnai (80–99%)
Abnormal dental position	Dažnai (30–79%)
Absent frontal sinuses	Dažnai (30–79%)
Accessory oral frenulum	Dažnai (30–79%)
Coarse facial features	Dažnai (30–79%)
Corners of eye widely separated	Dažnai (30–79%)
Delayed eruption of teeth	Dažnai (30–79%)
Depressed nasal tip	Dažnai (30–79%)
Enlargement of craniofacial bones	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Facial asymmetry	Dažnai (30–79%)
Frontal bossing	Dažnai (30–79%)
Full lips	Dažnai (30–79%)
Hypoplastic frontal sinuses	Dažnai (30–79%)
Pierre-Robin sequence	Dažnai (30–79%)
Retraction of the tongue	Dažnai (30–79%)
Upward slanting of the opening between the eyelids	Dažnai (30–79%)
Bifid uvula	Kartais (5–29%)
Decreased size of teeth	Kartais (5–29%)
Deformity of the skull	Kartais (5–29%)
Encephalocele	Kartais (5–29%)
Narrow palate	Kartais (5–29%)
Pit in front of the ear	Kartais (5–29%)
Full lower lip	Retai (1–4 %)
Long philtrum	Retai (1–4 %)
Absence of a tooth	Neužfiksuota
Antegonial notching of mandible	Neužfiksuota
Big foramen magnum	Neužfiksuota
Broad face	Neužfiksuota
Delayed closure of the soft spot on the skull	Neužfiksuota
Delayed loss of baby teeth	Neužfiksuota
Flat face	Neužfiksuota
Hairy forehead	Neužfiksuota
Increased size of the mandible	Neužfiksuota
Large forehead	Neužfiksuota
Long neck	Neužfiksuota
Midface retrusion	Neužfiksuota
Multiple impacted teeth	Neužfiksuota
Obtuse angle of mandible	Neužfiksuota
Pointed chin	Neužfiksuota
Prominent back of the head	Neužfiksuota
Short chin	Neužfiksuota
Smooth philtrum	Neužfiksuota
Thick skull base	Neužfiksuota
Vertical clivus	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormal formation of the hip	Visada
Elbow contracture	Visada
Excessive inward curvature of lower spine	Visada
Flexed joint that cannot be straightened	Visada
Foot pain	Visada
Funnel chest	Visada
Kyphoscoliosis	Visada
Narrow chest	Visada
Permanent flexion of the finger or toe	Visada
Poorly developed skeletal musculature	Visada
Scoliosis	Visada
Short collarbone	Visada
Small chest	Visada
Wavy collarbone	Visada
Abnormal cortical bone morphology	Labai dažnai (80–99%)
Abnormal skeletal development	Labai dažnai (80–99%)
Double-Jointed	Labai dažnai (80–99%)
Hernia	Labai dažnai (80–99%)
Limitation of joint mobility	Labai dažnai (80–99%)
Shorter than typical length between neck and abdomen	Labai dažnai (80–99%)
Abnormal vertebral segmentation and fusion	Dažnai (30–79%)
Abnormality of the pubic bone	Dažnai (30–79%)
Abnormality of the ribs	Dažnai (30–79%)
Anisospondyly	Dažnai (30–79%)
Cervical C2/C3 vertebral fusion	Dažnai (30–79%)
Congenital diaphragmatic hernia	Dažnai (30–79%)
Flared iliac wing	Dažnai (30–79%)
Fused neck	Dažnai (30–79%)
Increased bone mineral density	Dažnai (30–79%)
Loss of fat tissue in localized area	Dažnai (30–79%)
High shoulder blade	Kartais (5–29%)
Shoulder dislocation	Kartais (5–29%)
Spastic diplegia	Kartais (5–29%)
Generalized decreased muscle tone	Retai (1–4 %)
Joint stiffness	Retai (1–4 %)
Abnormal bone structure	Neužfiksuota
Anterior concavity of thoracic vertebrae	Neužfiksuota
Anteriorly placed odontoid process	Neužfiksuota
Coat hanger sign of ribs	Neužfiksuota
Flattened vertebrae	Neužfiksuota
Low muscle tone, in neonatal onset	Neužfiksuota
Multiple joint contractures	Neužfiksuota
Muscle degeneration	Neužfiksuota
Short ribs	Neužfiksuota
Small shoulder blade	Neužfiksuota
Small wings of the pelvic girdle	Neužfiksuota
Spondylolysis	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
An opening in the wall separating the top two chambers of the heart	Visada
Atrial septal dilatation	Visada
Dilatation of the sinus of Valsalva	Visada
Hole in heart wall separating two lower heart chambers	Visada
Increased blood pressure in blood vessels of lungs	Visada
Pulmonic regurgitation	Visada
Raynaud phenomenon	Visada
Tricuspid regurgitation	Visada
Abnormal cardiovascular system morphology	Labai dažnai (80–99%)
Aortic regurgitation	Labai dažnai (80–99%)
Mitral regurgitation	Labai dažnai (80–99%)
Patent ductus arteriosus	Labai dažnai (80–99%)
Abnormal cardiac septum morphology	Dažnai (30–79%)
Abnormal heart valve morphology	Dažnai (30–79%)
Abnormality of the heart	Dažnai (30–79%)
Mitral valve prolapse	Dažnai (30–79%)
Aortic valve has two leaflets rather than three	Kartais (5–29%)
Bulge in wall of large artery that carries blood away from heart	Kartais (5–29%)
Patent foramen ovale	Kartais (5–29%)
Stroke	Kartais (5–29%)
Restrictive cardiomyopathy	Retai (1–4 %)
Right atrial enlargement	Retai (1–4 %)
Cardiac failure	Neužfiksuota
Cor pulmonale	Neužfiksuota
Short chordae tendineae of the mitral valve	Neužfiksuota
Short chordae tendineae of the tricuspid valve	Neužfiksuota
Tricuspid valve prolapse	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Intellectual disability	Visada
Obstructive sleep apnea	Visada
Small cerebellum	Visada
Split spine	Visada
Thin corpus callosum	Visada
Intellectual disability, mild	Labai dažnai (80–99%)
Abnormal shape of nervous system	Dažnai (30–79%)
Cognitive impairment	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Periventricular heterotopia	Dažnai (30–79%)
Seizure affecting one half of brain	Dažnai (30–79%)
Too much cerebrospinal fluid in the brain	Dažnai (30–79%)
Chiari malformation	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Myelomeningocele	Kartais (5–29%)
Spina bifida occulta	Kartais (5–29%)
Underdevelopment of part of brain called corpus callosum	Kartais (5–29%)
Periventricular nodular heterotopia	Retai (1–4 %)
Abnormal gait	Neužfiksuota
Abnormality of neuronal migration	Neužfiksuota
Delayed speech and language development	Neužfiksuota
Gray matter heterotopia	Neužfiksuota
Motor delay	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Acid reflux	Visada
Enlarged liver	Visada
Lactose intolerance	Visada
Prolonged yellowing of skin in newborn	Visada
Thoracoabdominal wall defect	Visada
Umbilical hernia	Visada
Vomiting	Visada
Inguinal hernia	Labai dažnai (80–99%)
Malabsorption	Labai dažnai (80–99%)
Pyloric stenosis	Labai dažnai (80–99%)
Underdeveloped instestine	Labai dažnai (80–99%)
Intestinal malrotation	Dažnai (30–79%)
Omphalocele	Dažnai (30–79%)
Congenital shortened small intestine	Kartais (5–29%)
Abdominal bloating	Neužfiksuota
Constipation	Neužfiksuota
Feeding difficulties in infancy	Neužfiksuota
Intestinal pseudo-obstruction	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Fine hair	Visada
Hyperelastic skin	Labai dažnai (80–99%)
Hyperpigmented papule	Labai dažnai (80–99%)
Thin skin	Labai dažnai (80–99%)
Hair loss	Dažnai (30–79%)
Keloids	Dažnai (30–79%)
Sparse hair	Dažnai (30–79%)
Hanging skin	Retai (1–4 %)
Abnormal skin pigmentation	Neužfiksuota
Atypical nail growth	Neužfiksuota
Coarse hair	Neužfiksuota
Excessive hairiness	Neužfiksuota
Frontal upsweep of hair	Neužfiksuota
Localized skin lesion	Neužfiksuota
Poor nail formation	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Bulging eye	Visada
Clouding of the lens of the eye	Visada
Esodeviation	Visada
Glaucoma	Visada
Wide-set eyes	Visada
Abnormal cornea morphology	Kartais (5–29%)
Astigmatism	Kartais (5–29%)
Cat eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Developmental glaucoma	Kartais (5–29%)
Lazy eye	Kartais (5–29%)
Moderate myopia	Kartais (5–29%)
Drooping of both upper eyelids	Retai (1–4 %)
Drooping upper eyelid	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Bilateral sensorineural hearing impairment	Visada
Ears rotated toward back of head	Visada
Low-set ears	Visada
Middle ear infection	Visada
Abnormally shaped ears	Labai dažnai (80–99%)
Hearing impairment	Labai dažnai (80–99%)
Conductive deafness	Dažnai (30–79%)
Sensorineural hearing impairment	Dažnai (30–79%)
Mixed hearing impairment	Kartais (5–29%)
Large ears	Neužfiksuota
Prominent ear	Neužfiksuota
Recurrent middle ear infection	Neužfiksuota
Underdeveloped superior crus of antihelix	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Hydronephrosis	Visada
Narrowing of the ureter	Visada
Hypospadias	Dažnai (30–79%)
Narrowing of the urethra	Dažnai (30–79%)
Ureteral obstruction	Dažnai (30–79%)
Vesicoureteral reflux	Dažnai (30–79%)
Displacement of the urethral meatus	Kartais (5–29%)
Hydroureter	Neužfiksuota
Undescended testes	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Softening of voice box tissue	Visada
Tracheobronchomalacia	Visada
Poorly developed lungs	Labai dažnai (80–99%)
Subglottic stenosis	Dažnai (30–79%)
Respiratory function loss	Kartais (5–29%)
Breathing difficulty	Retai (1–4 %)
Noisy breathing	Neužfiksuota
Respiratory failure	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bleeding in brain	Visada
Bone marrow maturation arrest	Visada
Bleeding tendency	Labai dažnai (80–99%)
Bruising susceptibility	Labai dažnai (80–99%)
Abnormality of the coagulation cascade	Neužfiksuota
Large platelets	Neužfiksuota
Low platelet count	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Visada
Growth delay	Visada
Short stature	Visada
Weight loss	Visada
Decreased body weight	Neužfiksuota
Growth delay as children	Neužfiksuota

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Anti-Ku antibody positivity	Visada
Anti-PM-Scl75 antibody positivity	Visada
Recurrent infections	Visada
Recurrent respiratory infections	Dažnai (30–79%)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Inclusion body fibromatosis	Labai dažnai (80–99%)
Fibroma	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Accumulation of acid in body due to kidney problem	Visada
Laboratory abnormality	Neužfiksuota

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased circulating antibody level	Labai dažnai (80–99%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Hoarse voice	Neužfiksuota

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Joint pain	Visada

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.

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

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