Traits

Traits linked to COL4A5

collagen type IV alpha 5 chain

The Human Phenotype Ontology links 62 traits to COL4A5, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Abnormality of the female genitalia	Ofte (30–79 %)
Chronic kidney disease	Ofte (30–79 %)
Glomerular basement membrane lamellation	Ofte (30–79 %)
Kidney damage	Ofte (30–79 %)
Multiple kidney cysts	Ofte (30–79 %)
Renal failure	Ofte (30–79 %)
Stage 5 chronic kidney disease	Ofte (30–79 %)
Tumor of the vulva	Noen ganger (5–29 %)
Uterine cancer	Noen ganger (5–29 %)
Vaginal tumor	Noen ganger (5–29 %)
Nephrotic syndrome	Sjelden (1–4%)
Kidney inflammation	Ikke registrert
Thickened glomerular basement membrane	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Abnormal shape of the digestive system	Svært ofte (80–99 %)
Abnormality of esophagus structure	Svært ofte (80–99 %)
Esophageal tumor	Svært ofte (80–99 %)
Poor swallowing	Svært ofte (80–99 %)
Achalasia	Ofte (30–79 %)
Acid reflux	Ofte (30–79 %)
Hypoperistalsis	Ofte (30–79 %)
Indigestion	Ofte (30–79 %)
Vomiting	Ofte (30–79 %)
Narrowing of the esophagus	Noen ganger (5–29 %)
Nasogastric tube feeding	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Abnormality of the eye	Ofte (30–79 %)
Anterior lenticonus	Ofte (30–79 %)
Clouding of the lens of the eye	Ofte (30–79 %)
Astigmatism	Noen ganger (5–29 %)
Close sighted	Noen ganger (5–29 %)
Corneal inflammation	Noen ganger (5–29 %)
Retinal flecks	Noen ganger (5–29 %)
Macular hole	Sjelden (1–4%)
Clouding of the lens of the eye at birth	Ikke registrert
Damage to outer layer of the cornea of the eye	Ikke registrert
Lenticonus	Ikke registrert

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Abnormal respiratory system morphology	Noen ganger (5–29 %)
Breathing difficulty	Noen ganger (5–29 %)
Cough	Noen ganger (5–29 %)
Tracheobronchial leiomyomatosis	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
High urine protein levels	Svært ofte (80–99 %)
Small amount of blood in urine	Svært ofte (80–99 %)
Blood in urine	Ofte (30–79 %)
Bloody urine	Ofte (30–79 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Anti-smooth muscle antibody positivity	Ofte (30–79 %)
Aspiration pneumonia	Noen ganger (5–29 %)
Recurrent respiratory infections	Noen ganger (5–29 %)

Abnormal tissue mass

Trait	Hvor ofte den forekommer
Diffuse leiomyomatosis	Ofte (30–79 %)
Fibroma	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Retinal bleeding	Ofte (30–79 %)
Low platelet count	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
High blood pressure	Ofte (30–79 %)
Hypertensive retinopathy	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Hearing impairment	Ofte (30–79 %)
Sensorineural hearing impairment	Ofte (30–79 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Reduced epidermal collagen IV alpha 5 chain staining	Svært ofte (80–99 %)
Ichthyosis	Ikke registrert

Constitutional symptom

Trait	Hvor ofte den forekommer
Chest pain	Ofte (30–79 %)
Precordial pain	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Faltering weight	Ofte (30–79 %)
Weight loss	Noen ganger (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Focal retinal arteriolar constriction	Ofte (30–79 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Decreased parathyroid hormone secretion	Ikke registrert

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

The Human Phenotype Ontology, release 2026-09-01: the traits linked to COL4A5 and how often each is seen. Find out more at hpo.jax.org.

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