Tunnused

Geeniga FBN1 seotud tunnused

fibrillin 1

Inimese fenotüübi ontoloogia seostab geeniga FBN1 303 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

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

Abnormality of the cardiovascular system

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the eye

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

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Dural ectasia	Alati
Lateral ventricular asymmetry	Alati
Motor delay	Alati
Too much cerebrospinal fluid in the brain	Alati
Intellectual disability	Väga sageli (80–99%)
Cognitive impairment	Sageli (30–79%)
Communicating hydrocephalus	Sageli (30–79%)
Decreased nerve conduction velocity	Sageli (30–79%)
Decreased reflex response	Sageli (30–79%)
Chiari malformation	Mõnikord (5–29%)
Constrictive median neuropathy	Mõnikord (5–29%)
Impaired pain sensation	Mõnikord (5–29%)
Intellectual disability, mild	Mõnikord (5–29%)
Obstructive sleep apnea	Mõnikord (5–29%)
Peripheral neuropathy	Mõnikord (5–29%)
Toe walking	Mõnikord (5–29%)
Ventriculomegaly	Mõnikord (5–29%)
Spontaneous cerebrospinal fluid leak	Harva (1–4%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Emphysema	Alati
Low blood oxygen level	Väga sageli (80–99%)
Neonatal respiratory distress	Väga sageli (80–99%)
Exertional breathlessness	Sageli (30–79%)
Obstructive lung disease	Sageli (30–79%)
Paroxysmal dyspnea	Sageli (30–79%)
Abnormality in area between air sacs in lung	Mõnikord (5–29%)
Apnea	Mõnikord (5–29%)
Collapsed lung	Mõnikord (5–29%)
Coughing up blood	Mõnikord (5–29%)
Floppy windpipe	Mõnikord (5–29%)
Laryngeal stenosis	Mõnikord (5–29%)
Narrowing of windpipe	Mõnikord (5–29%)
Respiratory function loss	Mõnikord (5–29%)
Softening of voice box tissue	Mõnikord (5–29%)
Stiff lung or chest wall causing decreased lung volume	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Beauty mark	Alati
Premature aged appearance	Alati
Stiff skin	Alati
Stretch marks	Alati
Tight skin	Alati
Hanging skin	Väga sageli (80–99%)
Thickened skin	Väga sageli (80–99%)
Excessive hair growth	Sageli (30–79%)
Patchy darkened skin	Sageli (30–79%)
Absent/small skin	Mõnikord (5–29%)
Firm lump under the skin	Mõnikord (5–29%)
Hyperelastic skin	Mõnikord (5–29%)
Reduced fat tissue below the skin	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Disproportionate tall stature	Alati
Prenatal growth deficiency	Alati
Short stature	Alati
Tall stature	Alati
Severe short stature	Väga sageli (80–99%)
Small for gestational age	Väga sageli (80–99%)
Reduced upper to lower segment ratio	Sageli (30–79%)
Decreased body weight	Mõnikord (5–29%)
Faltering weight	Mõnikord (5–29%)
Proportionate short stature	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Belly sticks out	Alati
Feeding difficulties in infancy	Alati
Umbilical hernia	Alati
Feeding difficulties	Väga sageli (80–99%)
Acid reflux	Sageli (30–79%)
Inguinal hernia	Sageli (30–79%)
Absent/small abdominal wall muscles	Mõnikord (5–29%)
Enlarged liver	Mõnikord (5–29%)
Incisional hernia	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Thickened helices	Alati
Ears rotated toward back of head	Väga sageli (80–99%)
Low-set ears	Väga sageli (80–99%)
Conductive deafness	Sageli (30–79%)
Crumpled ear	Sageli (30–79%)
Prominent ear	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Premature birth	Alati
High levels of amniotic fluid	Sageli (30–79%)
Short fetal thigh bone length	Sageli (30–79%)
Low levels of amniotic fluid	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Decreased testicular size	Väga sageli (80–99%)
Kidney stone	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Asthma	Sageli (30–79%)
Recurrent ear infections	Sageli (30–79%)
Autoimmune antibody positivity	Harva (1–4%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Bruising susceptibility	Mõnikord (5–29%)
Subarachnoid hemorrhage	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Abnormal circulating lipid concentration	Mõnikord (5–29%)
Noninsulin-dependent diabetes	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Underactive thyroid	Harva (1–4%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Hoarse voice	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Chest pain	Sageli (30–79%)

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 FBN1 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