Traits

Traits linked to COL3A1

collagen type III alpha 1 chain

The Human Phenotype Ontology links 140 traits to COL3A1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Ascending aortic dissection	Întotdeauna
Cerebral berry aneurysm	Întotdeauna
Narrowing of pulmonic valve	Întotdeauna
Varicose veins	Întotdeauna
Abnormal circle of Willis morphology	Des (30–79%)
Arteriovenous fistula	Des (30–79%)
Descending aortic dissection	Des (30–79%)
High blood pressure	Des (30–79%)
Mini stroke	Des (30–79%)
Mitral valve prolapse	Des (30–79%)
Narrowing and hardening of arteries	Des (30–79%)
Telangiectasia of the skin	Des (30–79%)
Arterial dissection	Uneori (5–29%)
Bulge in wall of large artery that carries blood away from heart	Uneori (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Uneori (5–29%)
Bulging of wall of large artery located above heart	Uneori (5–29%)
Carotid cavernous fistula	Uneori (5–29%)
Renovascular hypertension	Uneori (5–29%)
Splenic rupture	Uneori (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Uneori (5–29%)
Aneurysm	Neînregistrat
Arterial rupture	Neînregistrat
Brain aneurysm	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Gingival recession	Întotdeauna
Smooth philtrum	Întotdeauna
Underdeveloped tissue around nostril	Întotdeauna
Upward slanting of the opening between the eyelids	Întotdeauna
Beaked nose	Des (30–79%)
Decreased volume of lip	Des (30–79%)
Little lower jaw	Des (30–79%)
Early loss of adult teeth	Uneori (5–29%)
Gingival fragility	Uneori (5–29%)
Gum disease	Uneori (5–29%)
High, narrow palate	Uneori (5–29%)
Inflamed gums	Uneori (5–29%)
Narrow mouth	Uneori (5–29%)
Temporomandibular joint dislocation	Uneori (5–29%)
Absence of scalp hair	Neînregistrat
Dental crowding	Neînregistrat
Early tooth loss	Neînregistrat
Long face	Neînregistrat
Narrow nasal ridge	Neînregistrat
Receding chin	Neînregistrat
Short philtrum	Neînregistrat

Abnormality of the integument

Trait	Cât de frecvent apare
Atypical scarring of skin	Întotdeauna
Dermal translucency	Întotdeauna
Hyperelastic skin	Întotdeauna
Abnormality of the skin	Foarte des (80–99%)
Absent/small skin	Foarte des (80–99%)
Fine hair	Foarte des (80–99%)
Irregular hyperpigmentation	Foarte des (80–99%)
Prematurely aged appearance	Foarte des (80–99%)
Thin skin	Foarte des (80–99%)
Excessive wrinkled skin	Des (30–79%)
Cigarette-paper scars	Uneori (5–29%)
Hair loss	Uneori (5–29%)
Loose redundant skin	Uneori (5–29%)
Open skin sore	Uneori (5–29%)
Fragile skin	Neînregistrat
Molluscoid pseudotumors	Neînregistrat
Sunken or indented skin due to damage	Neînregistrat

Abnormality of the nervous system

Trait	Cât de frecvent apare
Cortical dysplasia	Întotdeauna
Delayed ability to sit	Întotdeauna
Delayed ability to walk	Întotdeauna
Typical absence seizure	Întotdeauna
Ventriculomegaly	Întotdeauna
Abnormal shape of brainstem	Des (30–79%)
Epilepsy	Des (30–79%)
Intellectual disability	Des (30–79%)
Weakness of one side of body	Des (30–79%)
Encephalomalacia	Uneori (5–29%)
Delayed speech and language development	Rar (1–4%)
Motor delay	Rar (1–4%)
Cerebellar cyst	Neînregistrat
More grooves in brain	Neînregistrat
Small brainstem	Neînregistrat
Small cerebellum	Neînregistrat

Abnormality of limbs

Trait	Cât de frecvent apare
Club foot on both sides	Întotdeauna
Increased mobility in finger joint	Întotdeauna
Metacarpophalangeal joint hyperextensibility	Întotdeauna
Club feet	Des (30–79%)
Short foot	Des (30–79%)
Small hand	Des (30–79%)
Dislocated hip since birth	Uneori (5–29%)
Breakdown of small bones of fingers	Neînregistrat
Foot acroosteolysis	Neînregistrat
Long fingers	Neînregistrat
Slender finger	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Double-Jointed	Întotdeauna
Increased mobility of hinge joints	Întotdeauna
Loss of fat tissue in localized area	Foarte des (80–99%)
Scoliosis	Des (30–79%)
Abnormal skeletal development	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Joint dislocation	Uneori (5–29%)
Tendon rupture	Uneori (5–29%)
Increased mobility of outermost hinge joint	Neînregistrat
Permanent flexion of the finger or toe	Neînregistrat

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Collapsed lung	Întotdeauna
Combined cystic and ground-glass pattern on pulmonary HRCT	Întotdeauna
Nodular pattern on pulmonary HRCT	Întotdeauna
Spontaneous collapsed lung	Întotdeauna
Emphysema	Foarte des (80–99%)
Coughing up blood	Des (30–79%)
Hemothorax	Des (30–79%)
Pulmonary bulla	Des (30–79%)
Repeated pneumothoraces	Des (30–79%)
Pulmonary bleb	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Bruising susceptibility	Întotdeauna
Diffuse alveolar hemorrhage	Întotdeauna
Low number of red blood cells or hemoglobin	Întotdeauna
Internal bleeding	Des (30–79%)
Bleeding post-delivery	Uneori (5–29%)
Bleeding within the skull	Uneori (5–29%)
Subarachnoid hemorrhage	Uneori (5–29%)
Ecchymosis	Neînregistrat
Recurrent bleeding into lungs	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Bulging eye	Des (30–79%)
Partial loss of field of vision	Des (30–79%)
Oculomotor nerve palsy	Uneori (5–29%)
Bulging cornea	Rar (1–4%)
Abnormality of eye movement	Neînregistrat
Deeply set eye	Neînregistrat
Farsightedness	Neînregistrat

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Undescended testes	Întotdeauna
Hypospadias	Uneori (5–29%)
Sagging uterus	Uneori (5–29%)
Uterine rupture	Rar (1–4%)
Bladder hernia	Neînregistrat
Cervical insufficiency	Neînregistrat

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Premature rupture of membranes	Întotdeauna
Premature birth	Des (30–79%)
Premature delivery because of cervical insufficiency or membrane fragility	Uneori (5–29%)
Amniotic constriction ring	Rar (1–4%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Inguinal hernia	Întotdeauna
Colon perforation	Des (30–79%)
Umbilical hernia	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Absent earlobe	Neînregistrat

Constitutional symptom

Trait	Cât de frecvent apare
Chest pain	Des (30–79%)

Growth abnormality

Trait	Cât de frecvent apare
Short stature	Foarte des (80–99%)

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to COL3A1 and how often each is seen. Find out more at hpo.jax.org.

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