Trăsături

Trăsături asociate cu COL4A1

collagen type IV alpha 1 chain

Human Phenotype Ontology asociază 110 trăsături cu COL4A1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Hyperintensity of cerebral white matter on MRI	Întotdeauna
Leukoencephalopathy	Întotdeauna
Abnormal cerebellar vermis morphology	Foarte des (80–99%)
Abnormal cortical gyration	Foarte des (80–99%)
Abnormality of neuronal migration	Foarte des (80–99%)
Absent reflexes	Foarte des (80–99%)
Cavity within brain	Foarte des (80–99%)
Decreased reflex response	Foarte des (80–99%)
Fewer and broader ridges in brain	Foarte des (80–99%)
Fewer or absent grooves in brain	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
More grooves in brain	Foarte des (80–99%)
Small cerebellum	Foarte des (80–99%)
Specific learning disability	Foarte des (80–99%)
Too much cerebrospinal fluid in the brain	Foarte des (80–99%)
Ventriculomegaly	Foarte des (80–99%)
Abnormal periventricular white matter morphology	Des (30–79%)
Absent septum pellucidum	Des (30–79%)
Agenesis of corpus callosum	Des (30–79%)
Balance impairment	Des (30–79%)
Cognitive impairment	Des (30–79%)
Migraine with aura	Des (30–79%)
Weakness of one side of body	Des (30–79%)
Babinski sign	Uneori (5–29%)
Dementia	Uneori (5–29%)
Dystonia	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Paralysis on one side of body	Uneori (5–29%)
Seizure affecting one half of brain	Uneori (5–29%)
Cortical dysplasia	Neînregistrat
Degeneration of cerebellum	Neînregistrat
Focal cortical dysplasia	Neînregistrat
Limb dystonia	Neînregistrat
Migraine	Neînregistrat
Schizencephaly	Neînregistrat
Tetraparesis	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Breakdown of light-sensitive cells in back of eye	Foarte des (80–99%)
Chorioretinal dysplasia	Foarte des (80–99%)
Optic atrophy	Foarte des (80–99%)
Optic nerve issue	Foarte des (80–99%)
Retinal detachment	Foarte des (80–99%)
Retinal dysplasia	Foarte des (80–99%)
Abnormally small eyeball	Des (30–79%)
Absence of eyeballs	Des (30–79%)
Corneal opacity	Des (30–79%)
Extreme sensitivity of the eyes to light	Des (30–79%)
Glaucoma	Des (30–79%)
Cat eye	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Cornea of eye less than 10mm in diameter	Uneori (5–29%)
Ocular anterior segment dysgenesis	Uneori (5–29%)
Astigmatism	Rar (1–4%)
Clouding of the lens of the eye at birth	Rar (1–4%)
Decreased clarity of vision	Rar (1–4%)
Displaced pupil	Rar (1–4%)
Farsightedness	Rar (1–4%)
Multiple pupils	Rar (1–4%)
New blood vessel formation in cornea	Rar (1–4%)
Peripapillary atrophy	Rar (1–4%)
Underdeveloped iris	Rar (1–4%)
Blurred vision	Neînregistrat
Close sighted	Neînregistrat
Fundus hypopigmentation	Neînregistrat
Lazy eye	Neînregistrat
Outward facing eye ball	Neînregistrat
Partial loss of field of vision	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Retinal arteriolar tortuosity	Întotdeauna
Big calvaria	Des (30–79%)
Dandy-Walker malformation	Des (30–79%)
Retinal arterial tortuosity	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Bifid uvula	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Submucous cleft hard palate	Uneori (5–29%)
Facial paralysis	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Dilation of Virchow-Robin spaces	Întotdeauna
Retinal vascular tortuosity	Foarte des (80–99%)
Brain aneurysm	Des (30–79%)
Lacunar stroke	Des (30–79%)
Raynaud phenomenon	Des (30–79%)
Supraventricular arrhythmia	Des (30–79%)
Abnormal heart rate	Uneori (5–29%)
Ischemic stroke	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Renal failure	Foarte des (80–99%)
Multiple kidney cysts	Des (30–79%)
Underdeveloped penis	Des (30–79%)
Undescended testes	Des (30–79%)
Chronic kidney disease	Uneori (5–29%)
Cystic kidney disease	Uneori (5–29%)
Decreased glomerular filtration rate	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Muscle spasm	Întotdeauna
Absent/small skeletal muscles	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Muscle degeneration	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Muscular dystrophy	Foarte des (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated blood creatine phosphokinase	Întotdeauna
Abnormal circulating aldolase concentration	Foarte des (80–99%)
Abnormal circulating lactate dehydrogenase concentration	Foarte des (80–99%)
Abnormal levels of creatine kinase in blood	Foarte des (80–99%)
Blood in urine	Des (30–79%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding in brain	Des (30–79%)
Retinal bleeding	Des (30–79%)
Hemolytic anemia	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Prominent ear	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Metatarsus valgus	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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu COL4A1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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