Tunnused

Geeniga FLNA seotud tunnused

filamin A

Inimese fenotüübi ontoloogia seostab geeniga FLNA 395 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of limbs

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

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

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

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
An opening in the wall separating the top two chambers of the heart	Alati
Atrial septal dilatation	Alati
Dilatation of the sinus of Valsalva	Alati
Hole in heart wall separating two lower heart chambers	Alati
Increased blood pressure in blood vessels of lungs	Alati
Pulmonic regurgitation	Alati
Raynaud phenomenon	Alati
Tricuspid regurgitation	Alati
Abnormal cardiovascular system morphology	Väga sageli (80–99%)
Aortic regurgitation	Väga sageli (80–99%)
Mitral regurgitation	Väga sageli (80–99%)
Patent ductus arteriosus	Väga sageli (80–99%)
Abnormal cardiac septum morphology	Sageli (30–79%)
Abnormal heart valve morphology	Sageli (30–79%)
Abnormality of the heart	Sageli (30–79%)
Mitral valve prolapse	Sageli (30–79%)
Aortic valve has two leaflets rather than three	Mõnikord (5–29%)
Bulge in wall of large artery that carries blood away from heart	Mõnikord (5–29%)
Patent foramen ovale	Mõnikord (5–29%)
Stroke	Mõnikord (5–29%)
Restrictive cardiomyopathy	Harva (1–4%)
Right atrial enlargement	Harva (1–4%)
Cardiac failure	Pole registreeritud
Cor pulmonale	Pole registreeritud
Short chordae tendineae of the mitral valve	Pole registreeritud
Short chordae tendineae of the tricuspid valve	Pole registreeritud
Tricuspid valve prolapse	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Intellectual disability	Alati
Obstructive sleep apnea	Alati
Small cerebellum	Alati
Split spine	Alati
Thin corpus callosum	Alati
Intellectual disability, mild	Väga sageli (80–99%)
Abnormal shape of nervous system	Sageli (30–79%)
Cognitive impairment	Sageli (30–79%)
Global developmental delay	Sageli (30–79%)
Periventricular heterotopia	Sageli (30–79%)
Seizure affecting one half of brain	Sageli (30–79%)
Too much cerebrospinal fluid in the brain	Sageli (30–79%)
Chiari malformation	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)
Myelomeningocele	Mõnikord (5–29%)
Spina bifida occulta	Mõnikord (5–29%)
Underdevelopment of part of brain called corpus callosum	Mõnikord (5–29%)
Periventricular nodular heterotopia	Harva (1–4%)
Abnormal gait	Pole registreeritud
Abnormality of neuronal migration	Pole registreeritud
Delayed speech and language development	Pole registreeritud
Gray matter heterotopia	Pole registreeritud
Motor delay	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Acid reflux	Alati
Enlarged liver	Alati
Lactose intolerance	Alati
Prolonged yellowing of skin in newborn	Alati
Thoracoabdominal wall defect	Alati
Umbilical hernia	Alati
Vomiting	Alati
Inguinal hernia	Väga sageli (80–99%)
Malabsorption	Väga sageli (80–99%)
Pyloric stenosis	Väga sageli (80–99%)
Underdeveloped instestine	Väga sageli (80–99%)
Intestinal malrotation	Sageli (30–79%)
Omphalocele	Sageli (30–79%)
Congenital shortened small intestine	Mõnikord (5–29%)
Abdominal bloating	Pole registreeritud
Constipation	Pole registreeritud
Feeding difficulties in infancy	Pole registreeritud
Intestinal pseudo-obstruction	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Fine hair	Alati
Hyperelastic skin	Väga sageli (80–99%)
Hyperpigmented papule	Väga sageli (80–99%)
Thin skin	Väga sageli (80–99%)
Hair loss	Sageli (30–79%)
Keloids	Sageli (30–79%)
Sparse hair	Sageli (30–79%)
Hanging skin	Harva (1–4%)
Abnormal skin pigmentation	Pole registreeritud
Atypical nail growth	Pole registreeritud
Coarse hair	Pole registreeritud
Excessive hairiness	Pole registreeritud
Frontal upsweep of hair	Pole registreeritud
Localized skin lesion	Pole registreeritud
Poor nail formation	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Bulging eye	Alati
Clouding of the lens of the eye	Alati
Esodeviation	Alati
Glaucoma	Alati
Wide-set eyes	Alati
Abnormal cornea morphology	Mõnikord (5–29%)
Astigmatism	Mõnikord (5–29%)
Cat eye	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Developmental glaucoma	Mõnikord (5–29%)
Lazy eye	Mõnikord (5–29%)
Moderate myopia	Mõnikord (5–29%)
Drooping of both upper eyelids	Harva (1–4%)
Drooping upper eyelid	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Bilateral sensorineural hearing impairment	Alati
Ears rotated toward back of head	Alati
Low-set ears	Alati
Middle ear infection	Alati
Abnormally shaped ears	Väga sageli (80–99%)
Hearing impairment	Väga sageli (80–99%)
Conductive deafness	Sageli (30–79%)
Sensorineural hearing impairment	Sageli (30–79%)
Mixed hearing impairment	Mõnikord (5–29%)
Large ears	Pole registreeritud
Prominent ear	Pole registreeritud
Recurrent middle ear infection	Pole registreeritud
Underdeveloped superior crus of antihelix	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Hydronephrosis	Alati
Narrowing of the ureter	Alati
Hypospadias	Sageli (30–79%)
Narrowing of the urethra	Sageli (30–79%)
Ureteral obstruction	Sageli (30–79%)
Vesicoureteral reflux	Sageli (30–79%)
Displacement of the urethral meatus	Mõnikord (5–29%)
Hydroureter	Pole registreeritud
Undescended testes	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Softening of voice box tissue	Alati
Tracheobronchomalacia	Alati
Poorly developed lungs	Väga sageli (80–99%)
Subglottic stenosis	Sageli (30–79%)
Respiratory function loss	Mõnikord (5–29%)
Breathing difficulty	Harva (1–4%)
Noisy breathing	Pole registreeritud
Respiratory failure	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Bleeding in brain	Alati
Bone marrow maturation arrest	Alati
Bleeding tendency	Väga sageli (80–99%)
Bruising susceptibility	Väga sageli (80–99%)
Abnormality of the coagulation cascade	Pole registreeritud
Large platelets	Pole registreeritud
Low platelet count	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Alati
Growth delay	Alati
Short stature	Alati
Weight loss	Alati
Decreased body weight	Pole registreeritud
Growth delay as children	Pole registreeritud

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Anti-Ku antibody positivity	Alati
Anti-PM-Scl75 antibody positivity	Alati
Recurrent infections	Alati
Recurrent respiratory infections	Sageli (30–79%)

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Inclusion body fibromatosis	Väga sageli (80–99%)
Fibroma	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Accumulation of acid in body due to kidney problem	Alati
Laboratory abnormality	Pole registreeritud

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Decreased circulating antibody level	Väga sageli (80–99%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Hoarse voice	Pole registreeritud

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Joint pain	Alati

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

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test