Tunnused

Geeniga COL3A1 seotud tunnused

collagen type III alpha 1 chain

Inimese fenotüübi ontoloogia seostab geeniga COL3A1 140 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

COL3A1

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Ascending aortic dissection	Alati
Cerebral berry aneurysm	Alati
Narrowing of pulmonic valve	Alati
Varicose veins	Alati
Abnormal circle of Willis morphology	Sageli (30–79%)
Arteriovenous fistula	Sageli (30–79%)
Descending aortic dissection	Sageli (30–79%)
High blood pressure	Sageli (30–79%)
Mini stroke	Sageli (30–79%)
Mitral valve prolapse	Sageli (30–79%)
Narrowing and hardening of arteries	Sageli (30–79%)
Telangiectasia of the skin	Sageli (30–79%)
Arterial dissection	Mõnikord (5–29%)
Bulge in wall of large artery that carries blood away from heart	Mõnikord (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Mõnikord (5–29%)
Bulging of wall of large artery located above heart	Mõnikord (5–29%)
Carotid cavernous fistula	Mõnikord (5–29%)
Renovascular hypertension	Mõnikord (5–29%)
Splenic rupture	Mõnikord (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Mõnikord (5–29%)
Aneurysm	Pole registreeritud
Arterial rupture	Pole registreeritud
Brain aneurysm	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Gingival recession	Alati
Smooth philtrum	Alati
Underdeveloped tissue around nostril	Alati
Upward slanting of the opening between the eyelids	Alati
Beaked nose	Sageli (30–79%)
Decreased volume of lip	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Early loss of adult teeth	Mõnikord (5–29%)
Gingival fragility	Mõnikord (5–29%)
Gum disease	Mõnikord (5–29%)
High, narrow palate	Mõnikord (5–29%)
Inflamed gums	Mõnikord (5–29%)
Narrow mouth	Mõnikord (5–29%)
Temporomandibular joint dislocation	Mõnikord (5–29%)
Absence of scalp hair	Pole registreeritud
Dental crowding	Pole registreeritud
Early tooth loss	Pole registreeritud
Long face	Pole registreeritud
Narrow nasal ridge	Pole registreeritud
Receding chin	Pole registreeritud
Short philtrum	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Atypical scarring of skin	Alati
Dermal translucency	Alati
Hyperelastic skin	Alati
Abnormality of the skin	Väga sageli (80–99%)
Absent/small skin	Väga sageli (80–99%)
Fine hair	Väga sageli (80–99%)
Irregular hyperpigmentation	Väga sageli (80–99%)
Prematurely aged appearance	Väga sageli (80–99%)
Thin skin	Väga sageli (80–99%)
Excessive wrinkled skin	Sageli (30–79%)
Cigarette-paper scars	Mõnikord (5–29%)
Hair loss	Mõnikord (5–29%)
Loose redundant skin	Mõnikord (5–29%)
Open skin sore	Mõnikord (5–29%)
Fragile skin	Pole registreeritud
Molluscoid pseudotumors	Pole registreeritud
Sunken or indented skin due to damage	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Cortical dysplasia	Alati
Delayed ability to sit	Alati
Delayed ability to walk	Alati
Typical absence seizure	Alati
Ventriculomegaly	Alati
Abnormal shape of brainstem	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Intellectual disability	Sageli (30–79%)
Weakness of one side of body	Sageli (30–79%)
Encephalomalacia	Mõnikord (5–29%)
Delayed speech and language development	Harva (1–4%)
Motor delay	Harva (1–4%)
Cerebellar cyst	Pole registreeritud
More grooves in brain	Pole registreeritud
Small brainstem	Pole registreeritud
Small cerebellum	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Club foot on both sides	Alati
Increased mobility in finger joint	Alati
Metacarpophalangeal joint hyperextensibility	Alati
Club feet	Sageli (30–79%)
Short foot	Sageli (30–79%)
Small hand	Sageli (30–79%)
Dislocated hip since birth	Mõnikord (5–29%)
Breakdown of small bones of fingers	Pole registreeritud
Foot acroosteolysis	Pole registreeritud
Long fingers	Pole registreeritud
Slender finger	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Double-Jointed	Alati
Increased mobility of hinge joints	Alati
Loss of fat tissue in localized area	Väga sageli (80–99%)
Scoliosis	Sageli (30–79%)
Abnormal skeletal development	Mõnikord (5–29%)
Funnel chest	Mõnikord (5–29%)
Joint dislocation	Mõnikord (5–29%)
Tendon rupture	Mõnikord (5–29%)
Increased mobility of outermost hinge joint	Pole registreeritud
Permanent flexion of the finger or toe	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Collapsed lung	Alati
Combined cystic and ground-glass pattern on pulmonary HRCT	Alati
Nodular pattern on pulmonary HRCT	Alati
Spontaneous collapsed lung	Alati
Emphysema	Väga sageli (80–99%)
Coughing up blood	Sageli (30–79%)
Hemothorax	Sageli (30–79%)
Pulmonary bulla	Sageli (30–79%)
Repeated pneumothoraces	Sageli (30–79%)
Pulmonary bleb	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Bruising susceptibility	Alati
Diffuse alveolar hemorrhage	Alati
Low number of red blood cells or hemoglobin	Alati
Internal bleeding	Sageli (30–79%)
Bleeding post-delivery	Mõnikord (5–29%)
Bleeding within the skull	Mõnikord (5–29%)
Subarachnoid hemorrhage	Mõnikord (5–29%)
Ecchymosis	Pole registreeritud
Recurrent bleeding into lungs	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Bulging eye	Sageli (30–79%)
Partial loss of field of vision	Sageli (30–79%)
Oculomotor nerve palsy	Mõnikord (5–29%)
Bulging cornea	Harva (1–4%)
Abnormality of eye movement	Pole registreeritud
Deeply set eye	Pole registreeritud
Farsightedness	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Undescended testes	Alati
Hypospadias	Mõnikord (5–29%)
Sagging uterus	Mõnikord (5–29%)
Uterine rupture	Harva (1–4%)
Bladder hernia	Pole registreeritud
Cervical insufficiency	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Premature rupture of membranes	Alati
Premature birth	Sageli (30–79%)
Premature delivery because of cervical insufficiency or membrane fragility	Mõnikord (5–29%)
Amniotic constriction ring	Harva (1–4%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Inguinal hernia	Alati
Colon perforation	Sageli (30–79%)
Umbilical hernia	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Absent earlobe	Pole registreeritud

Constitutional symptom

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

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Väga sageli (80–99%)

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 COL3A1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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