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

Abnormality of head or neck

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

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Atypical scarring of skin	Visada
Dermal translucency	Visada
Hyperelastic skin	Visada
Abnormality of the skin	Labai dažnai (80–99%)
Absent/small skin	Labai dažnai (80–99%)
Fine hair	Labai dažnai (80–99%)
Irregular hyperpigmentation	Labai dažnai (80–99%)
Prematurely aged appearance	Labai dažnai (80–99%)
Thin skin	Labai dažnai (80–99%)
Excessive wrinkled skin	Dažnai (30–79%)
Cigarette-paper scars	Kartais (5–29%)
Hair loss	Kartais (5–29%)
Loose redundant skin	Kartais (5–29%)
Open skin sore	Kartais (5–29%)
Fragile skin	Neužfiksuota
Molluscoid pseudotumors	Neužfiksuota
Sunken or indented skin due to damage	Neužfiksuota

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Cortical dysplasia	Visada
Delayed ability to sit	Visada
Delayed ability to walk	Visada
Typical absence seizure	Visada
Ventriculomegaly	Visada
Abnormal shape of brainstem	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Weakness of one side of body	Dažnai (30–79%)
Encephalomalacia	Kartais (5–29%)
Delayed speech and language development	Retai (1–4 %)
Motor delay	Retai (1–4 %)
Cerebellar cyst	Neužfiksuota
More grooves in brain	Neužfiksuota
Small brainstem	Neužfiksuota
Small cerebellum	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Club foot on both sides	Visada
Increased mobility in finger joint	Visada
Metacarpophalangeal joint hyperextensibility	Visada
Club feet	Dažnai (30–79%)
Short foot	Dažnai (30–79%)
Small hand	Dažnai (30–79%)
Dislocated hip since birth	Kartais (5–29%)
Breakdown of small bones of fingers	Neužfiksuota
Foot acroosteolysis	Neužfiksuota
Long fingers	Neužfiksuota
Slender finger	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Double-Jointed	Visada
Increased mobility of hinge joints	Visada
Loss of fat tissue in localized area	Labai dažnai (80–99%)
Scoliosis	Dažnai (30–79%)
Abnormal skeletal development	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Joint dislocation	Kartais (5–29%)
Tendon rupture	Kartais (5–29%)
Increased mobility of outermost hinge joint	Neužfiksuota
Permanent flexion of the finger or toe	Neužfiksuota

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Collapsed lung	Visada
Combined cystic and ground-glass pattern on pulmonary HRCT	Visada
Nodular pattern on pulmonary HRCT	Visada
Spontaneous collapsed lung	Visada
Emphysema	Labai dažnai (80–99%)
Coughing up blood	Dažnai (30–79%)
Hemothorax	Dažnai (30–79%)
Pulmonary bulla	Dažnai (30–79%)
Repeated pneumothoraces	Dažnai (30–79%)
Pulmonary bleb	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Bruising susceptibility	Visada
Diffuse alveolar hemorrhage	Visada
Low number of red blood cells or hemoglobin	Visada
Internal bleeding	Dažnai (30–79%)
Bleeding post-delivery	Kartais (5–29%)
Bleeding within the skull	Kartais (5–29%)
Subarachnoid hemorrhage	Kartais (5–29%)
Ecchymosis	Neužfiksuota
Recurrent bleeding into lungs	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Bulging eye	Dažnai (30–79%)
Partial loss of field of vision	Dažnai (30–79%)
Oculomotor nerve palsy	Kartais (5–29%)
Bulging cornea	Retai (1–4 %)
Abnormality of eye movement	Neužfiksuota
Deeply set eye	Neužfiksuota
Farsightedness	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Undescended testes	Visada
Hypospadias	Kartais (5–29%)
Sagging uterus	Kartais (5–29%)
Uterine rupture	Retai (1–4 %)
Bladder hernia	Neužfiksuota
Cervical insufficiency	Neužfiksuota

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Premature rupture of membranes	Visada
Premature birth	Dažnai (30–79%)
Premature delivery because of cervical insufficiency or membrane fragility	Kartais (5–29%)
Amniotic constriction ring	Retai (1–4 %)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Inguinal hernia	Visada
Colon perforation	Dažnai (30–79%)
Umbilical hernia	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Absent earlobe	Neužfiksuota

Constitutional symptom

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

Growth abnormality

Trait	Kaip dažnai pasireiškia
Short stature	Labai dažnai (80–99%)

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

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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