Požymiai

Su FBN1 susiję požymiai

fibrillin 1

Žmogaus fenotipo ontologija sieja 303 požymių su FBN1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Big calvaria	Visada
Broad forehead	Visada
Deficient area between the eyebrows	Visada
Downward slanting of the opening between the eyelids	Visada
Dry eye syndrome	Visada
High palate	Visada
High, narrow palate	Visada
Narrow nasal ridge	Visada
Narrow nose	Visada
Prominent forehead	Visada
Prominent nasal bridge	Visada
Receding chin	Visada
Triangular face	Visada
Abnormality of the eyebrow	Labai dažnai (80–99%)
Corners of eye widely separated	Labai dažnai (80–99%)
Little lower jaw	Labai dažnai (80–99%)
Long eyelashes	Labai dažnai (80–99%)
Long philtrum	Labai dažnai (80–99%)
Long, narrow head	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Round face	Labai dažnai (80–99%)
Short nose	Labai dažnai (80–99%)
Big lower jaw	Dažnai (30–79%)
Bulbous nose	Dažnai (30–79%)
Decreased size of maxilla	Dažnai (30–79%)
Deformity of the skull	Dažnai (30–79%)
Frontal bossing	Dažnai (30–79%)
Full lower lip	Dažnai (30–79%)
High forehead	Dažnai (30–79%)
Increased size of nasopharyngeal adenoids	Dažnai (30–79%)
Narrow mouth	Dažnai (30–79%)
Thin red part of the upper lip	Dažnai (30–79%)
Wide nasal bridge	Dažnai (30–79%)
Zygomatic flattening	Dažnai (30–79%)
Abnormally small head	Kartais (5–29%)
Dental crowding	Kartais (5–29%)
Midface retrusion	Kartais (5–29%)
Abnormal dental position	Neužfiksuota
Abnormality of dental shape	Neužfiksuota
Broad head shape	Neužfiksuota
Broad skull	Neužfiksuota
Decreased depth of eye sockets	Neužfiksuota
Deep philtrum	Neužfiksuota
Depressed nasal bridge	Neužfiksuota
Full cheeks	Neužfiksuota
Long face	Neužfiksuota
Narrow face	Neužfiksuota
Narrow palate	Neužfiksuota
Scaphocephaly	Neužfiksuota
Smooth philtrum	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Ascending aortic dissection	Visada
Bulge in wall of large artery that carries blood away from heart	Visada
Bulge in wall of root of large artery that carries blood away from heart	Visada
Cardiac failure	Visada
Mitral regurgitation	Visada
Mitral valve prolapse	Visada
Tricuspid regurgitation	Visada
Abnormal cardiac ventricle morphology	Labai dažnai (80–99%)
Abnormality of the cardiovascular system	Labai dažnai (80–99%)
Bulging of wall of large artery located above heart	Labai dažnai (80–99%)
Cutis marmorata	Labai dažnai (80–99%)
Heart murmur	Labai dažnai (80–99%)
Mucoid extracellular matrix accumulation	Labai dažnai (80–99%)
Tricuspid valve prolapse	Labai dažnai (80–99%)
Abnormal aortic valve morphology	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Dažnai (30–79%)
Abnormal left ventricular function	Dažnai (30–79%)
Aortic regurgitation	Dažnai (30–79%)
Descending aortic dissection	Dažnai (30–79%)
Enlarged heart	Dažnai (30–79%)
High blood pressure	Dažnai (30–79%)
increased pulmonary artery pressure	Dažnai (30–79%)
Plaque build-up in arteries supplying blood to heart	Dažnai (30–79%)
Valvular pulmonary stenosis	Dažnai (30–79%)
Abdominal aortic aneurysm	Kartais (5–29%)
Aortic valve has two leaflets rather than three	Kartais (5–29%)
Brain aneurysm	Kartais (5–29%)
Carotid artery dilatation	Kartais (5–29%)
Depleted blood volume	Kartais (5–29%)
Descending thoracic aorta aneurysm	Kartais (5–29%)
Hole in center of heart	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Increased blood pressure in blood vessels of lungs	Kartais (5–29%)
Ischemic stroke	Kartais (5–29%)
Mini stroke	Kartais (5–29%)
Mitral stenosis	Kartais (5–29%)
Narrowing of aortic valve	Kartais (5–29%)
Narrowing of pulmonic valve	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Peripheral arterial stenosis	Kartais (5–29%)
Prolonged QTc interval	Kartais (5–29%)
Stroke	Kartais (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Kartais (5–29%)
Tricuspid stenosis	Kartais (5–29%)
Mitral annular calcification	Neužfiksuota
Pulmonary artery dilatation	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Elbow flexion contracture	Visada
Finger joint hyperextensibility	Visada
Flexion contracture of toe	Visada
Long fingers	Visada
Long slender fingers	Visada
Pes valgus	Visada
Short finger	Visada
Short foot	Visada
Short long bone of foot	Visada
Short palm	Visada
Shortened long bone of hand	Visada
Winged shoulder blade	Visada
Dropped arches	Labai dažnai (80–99%)
Inability to straighten knee	Labai dažnai (80–99%)
Inward turned thumb	Labai dažnai (80–99%)
Long toe	Labai dažnai (80–99%)
Short fingers or toes	Labai dažnai (80–99%)
Short thumb	Labai dažnai (80–99%)
Small hand	Labai dažnai (80–99%)
Talipes calcaneovarus	Labai dažnai (80–99%)
Abnormally indented hip sockets	Dažnai (30–79%)
High-arched foot	Dažnai (30–79%)
Increased arm span	Dažnai (30–79%)
Narrow foot	Dažnai (30–79%)
Permanent flexion of the finger	Dažnai (30–79%)
Abnormality of the thighbone	Kartais (5–29%)
Abnormality of the wide portion of a long bone	Kartais (5–29%)
Bowing of the long bones	Kartais (5–29%)
Elbow dislocation	Kartais (5–29%)
Equinus calcaneus	Kartais (5–29%)
Fifth metacarpal with ulnar notch	Kartais (5–29%)
Front half of foot turns inward	Kartais (5–29%)
Knock knees	Kartais (5–29%)
Limited elbow extension	Kartais (5–29%)
Talipes	Kartais (5–29%)
Back knee	Neužfiksuota
Broad palm	Neužfiksuota
Hammertoe	Neužfiksuota
Medial rotation of the medial malleolus	Neužfiksuota
Short finger bones	Neužfiksuota
Wide hand bones	Neužfiksuota
Wide long bone of foot	Neužfiksuota
Wide long bones of hand	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Absent fat below the skin	Visada
Delayed bone maturation	Visada
Generalized lipodystrophy	Visada
Hunched back	Visada
Limitation of joint mobility	Visada
Loss of fat tissue in localized area	Visada
Low muscle tone	Visada
Narrow chest	Visada
Permanent flexion of the finger or toe	Visada
Abnormality of connective tissue	Labai dažnai (80–99%)
Flexed joint that cannot be straightened	Labai dažnai (80–99%)
Joint stiffness	Labai dažnai (80–99%)
Limited shoulder movement	Labai dažnai (80–99%)
Pigeon chest	Labai dažnai (80–99%)
Wide rib cage	Labai dažnai (80–99%)
Double-Jointed	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Joint contracture	Dažnai (30–79%)
Phalangeal cone-shaped epiphyses	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Short long bone	Dažnai (30–79%)
Thoracic lordosis	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Abnormal shape of end part of bone	Kartais (5–29%)
Abnormal vertebral body morphology	Kartais (5–29%)
Abnormality of the sternum	Kartais (5–29%)
Inability to make and keep healthy fat tissue	Kartais (5–29%)
Kyphoscoliosis	Kartais (5–29%)
Missing ribs	Kartais (5–29%)
Muscle weakness	Kartais (5–29%)
Muscular abnormality	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Ovoid vertebral bodies	Kartais (5–29%)
Broad ribs	Neužfiksuota
Cone-shaped end part of bone	Neužfiksuota
Decreased muscle mass	Neužfiksuota
Displacement of one backbone compared to another	Neužfiksuota
Excessive inward curvature of lower spine	Neužfiksuota
Narrow spinal canal	Neužfiksuota
Premature osteoarthritis	Neužfiksuota
Thin bony cortex	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Astigmatism	Visada
Bulging eye	Visada
Completely dislocated lens	Visada
Decreased clarity of vision	Visada
Deeply set eye	Visada
Ectopia lentis	Visada
Iridodonesis	Visada
Microspherophakia	Visada
Severe near sightedness	Visada
Shallow anterior chamber	Visada
Enlarged cornea	Labai dažnai (80–99%)
Glaucoma	Labai dažnai (80–99%)
Wide-set eyes	Labai dažnai (80–99%)
Abnormality of the iris	Dažnai (30–79%)
Blue outer white part of eyeball	Dažnai (30–79%)
Close sighted	Dažnai (30–79%)
Clouding of the lens of the eye	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Displaced pupil	Kartais (5–29%)
Farsightedness	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Lazy eye	Kartais (5–29%)
Outward facing eye ball	Kartais (5–29%)
Retinal detachment	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Visual loss	Kartais (5–29%)
Hypertropia	Retai (1–4 %)
Inferior oblique muscle overaction	Retai (1–4 %)
Inward turning cross eyed	Retai (1–4 %)
Blindness	Neužfiksuota
Increased front to back length of eyeball	Neužfiksuota
Underdeveloped iris	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Dural ectasia	Visada
Lateral ventricular asymmetry	Visada
Motor delay	Visada
Too much cerebrospinal fluid in the brain	Visada
Intellectual disability	Labai dažnai (80–99%)
Cognitive impairment	Dažnai (30–79%)
Communicating hydrocephalus	Dažnai (30–79%)
Decreased nerve conduction velocity	Dažnai (30–79%)
Decreased reflex response	Dažnai (30–79%)
Chiari malformation	Kartais (5–29%)
Constrictive median neuropathy	Kartais (5–29%)
Impaired pain sensation	Kartais (5–29%)
Intellectual disability, mild	Kartais (5–29%)
Obstructive sleep apnea	Kartais (5–29%)
Peripheral neuropathy	Kartais (5–29%)
Toe walking	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)
Spontaneous cerebrospinal fluid leak	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Emphysema	Visada
Low blood oxygen level	Labai dažnai (80–99%)
Neonatal respiratory distress	Labai dažnai (80–99%)
Exertional breathlessness	Dažnai (30–79%)
Obstructive lung disease	Dažnai (30–79%)
Paroxysmal dyspnea	Dažnai (30–79%)
Abnormality in area between air sacs in lung	Kartais (5–29%)
Apnea	Kartais (5–29%)
Collapsed lung	Kartais (5–29%)
Coughing up blood	Kartais (5–29%)
Floppy windpipe	Kartais (5–29%)
Laryngeal stenosis	Kartais (5–29%)
Narrowing of windpipe	Kartais (5–29%)
Respiratory function loss	Kartais (5–29%)
Softening of voice box tissue	Kartais (5–29%)
Stiff lung or chest wall causing decreased lung volume	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Beauty mark	Visada
Premature aged appearance	Visada
Stiff skin	Visada
Stretch marks	Visada
Tight skin	Visada
Hanging skin	Labai dažnai (80–99%)
Thickened skin	Labai dažnai (80–99%)
Excessive hair growth	Dažnai (30–79%)
Patchy darkened skin	Dažnai (30–79%)
Absent/small skin	Kartais (5–29%)
Firm lump under the skin	Kartais (5–29%)
Hyperelastic skin	Kartais (5–29%)
Reduced fat tissue below the skin	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Disproportionate tall stature	Visada
Prenatal growth deficiency	Visada
Short stature	Visada
Tall stature	Visada
Severe short stature	Labai dažnai (80–99%)
Small for gestational age	Labai dažnai (80–99%)
Reduced upper to lower segment ratio	Dažnai (30–79%)
Decreased body weight	Kartais (5–29%)
Faltering weight	Kartais (5–29%)
Proportionate short stature	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Belly sticks out	Visada
Feeding difficulties in infancy	Visada
Umbilical hernia	Visada
Feeding difficulties	Labai dažnai (80–99%)
Acid reflux	Dažnai (30–79%)
Inguinal hernia	Dažnai (30–79%)
Absent/small abdominal wall muscles	Kartais (5–29%)
Enlarged liver	Kartais (5–29%)
Incisional hernia	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Thickened helices	Visada
Ears rotated toward back of head	Labai dažnai (80–99%)
Low-set ears	Labai dažnai (80–99%)
Conductive deafness	Dažnai (30–79%)
Crumpled ear	Dažnai (30–79%)
Prominent ear	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Premature birth	Visada
High levels of amniotic fluid	Dažnai (30–79%)
Short fetal thigh bone length	Dažnai (30–79%)
Low levels of amniotic fluid	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Decreased testicular size	Labai dažnai (80–99%)
Kidney stone	Kartais (5–29%)
Undescended testes	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Asthma	Dažnai (30–79%)
Recurrent ear infections	Dažnai (30–79%)
Autoimmune antibody positivity	Retai (1–4 %)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bruising susceptibility	Kartais (5–29%)
Subarachnoid hemorrhage	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Abnormal circulating lipid concentration	Kartais (5–29%)
Noninsulin-dependent diabetes	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Underactive thyroid	Retai (1–4 %)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Hoarse voice	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Chest pain	Dažnai (30–79%)

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 FBN1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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