Trăsături

Trăsături asociate cu FBLN5

fibulin 5

Human Phenotype Ontology asociază 105 trăsături cu FBLN5, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

FBLN5

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Baggy eyes	Foarte des (80–99%)
Abnormal facial shape	Des (30–79%)
Abnormality of the cheek	Des (30–79%)
Abnormality of the face	Des (30–79%)
Premature sagging cheeks	Des (30–79%)
Abnormality of the skull	Uneori (5–29%)
Abnormally small head	Uneori (5–29%)
Broad forehead	Uneori (5–29%)
Delayed cranial suture closure	Uneori (5–29%)
Prominent forehead	Uneori (5–29%)
Redundant neck skin	Uneori (5–29%)
Triangular face	Uneori (5–29%)
Extra bones within cranial sutures	Rar (1–4%)
Little foramen magnum	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Des (30–79%)
Abnormal systemic arterial morphology	Des (30–79%)
Aortic regurgitation	Des (30–79%)
Bulge in wall of large artery that carries blood away from heart	Des (30–79%)
Cardiac failure	Des (30–79%)
Mitral regurgitation	Des (30–79%)
Narrowing of peripheral lung artery	Des (30–79%)
Abnormal cardiac ventricular function	Uneori (5–29%)
Aneurysm	Uneori (5–29%)
Dilatation of the ventricular cavity	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Supravalvular aortic stenosis	Uneori (5–29%)
Bulging of wall of large artery located above heart	Neînregistrat
Twisted blood vessels	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Absent knee jerk reflex	Des (30–79%)
Decreased knee jerk reflex	Des (30–79%)
Distal lower limb muscle weakness	Des (30–79%)
Distal upper limb amyotrophy	Des (30–79%)
Distal upper limb muscle weakness	Des (30–79%)
Hip dislocation	Uneori (5–29%)
Inward turned thumb	Uneori (5–29%)
Back knee	Rar (1–4%)
Club feet	Rar (1–4%)
Dropped arches	Rar (1–4%)
Talipes calcaneovalgus	Rar (1–4%)
High-arched foot	Neînregistrat
Long slender fingers	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Distal muscle wasting	Foarte des (80–99%)
Weakness of outermost muscles	Foarte des (80–99%)
Abnormal curve of the backbone	Des (30–79%)
Distal lower limb amyotrophy	Des (30–79%)
Double-Jointed	Des (30–79%)
Hernia	Des (30–79%)
Joint subluxation	Des (30–79%)
Low muscle tone	Des (30–79%)
Spontaneous fracture	Des (30–79%)
Scoliosis	Uneori (5–29%)
Osteopenia	Rar (1–4%)
Funnel chest	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal cutaneous elastic fiber morphology	Întotdeauna
Hanging skin	Întotdeauna
Loose redundant skin	Întotdeauna
Fragmented elastic fibers in the dermis	Foarte des (80–99%)
Hyperelastic skin	Foarte des (80–99%)
Increased number of skin folds	Foarte des (80–99%)
Premature skin wrinkling	Foarte des (80–99%)
Tight skin	Foarte des (80–99%)
Prematurely aged appearance	Des (30–79%)
Dermal translucency	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Macular degeneration	Des (30–79%)
Clouding of the lens of the eye at birth	Uneori (5–29%)
Corneal opacity	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Choroidal neovascularization	Neînregistrat
Drusen	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Bladder diverticulum	Uneori (5–29%)
Frequent urinary tract infections	Uneori (5–29%)
Multiple pouches in bladder wall	Uneori (5–29%)
Pyelonephritis	Uneori (5–29%)
Urethral diverticulum	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)
Absent kidney on one side	Rar (1–4%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Decreased sensation in extremities	Întotdeauna
Peripheral axonal neuropathy	Întotdeauna
Motor delay	Des (30–79%)
Brisk reflexes	Uneori (5–29%)
Decreased nerve conduction velocity	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Autism spectrum disorder	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Inguinal hernia	Des (30–79%)
Feeding difficulties	Uneori (5–29%)
Pyloric stenosis	Uneori (5–29%)
Small bowel diverticula	Uneori (5–29%)
Vomiting	Rar (1–4%)
Umbilical hernia	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Emphysema	Întotdeauna
Collapsed lung	Des (30–79%)
Respiratory function loss	Des (30–79%)
Permanent enlargement of the airways of the lungs	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Întotdeauna
Recurrent pneumonia	Uneori (5–29%)
Unusual bronchiolitis	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Des (30–79%)
Growth delay as children	Uneori (5–29%)
General overgrowth	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Uneori (5–29%)
Prominent ear	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Low levels of amniotic fluid	Neînregistrat

Abnormality of the thoracic cavity

Trăsătură	Cât de frecvent apare
Abnormality of the thoracic cavity	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Deficient in vitamin D	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu FBLN5 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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