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	How often it is seen
Abnormality of the female genitalia	Often (30–79%)
Chronic kidney disease	Often (30–79%)
Glomerular basement membrane lamellation	Often (30–79%)
Kidney damage	Often (30–79%)
Multiple kidney cysts	Often (30–79%)
Renal failure	Often (30–79%)
Stage 5 chronic kidney disease	Often (30–79%)
Tumor of the vulva	Sometimes (5–29%)
Uterine cancer	Sometimes (5–29%)
Vaginal tumor	Sometimes (5–29%)
Nephrotic syndrome	Rarely (1–4%)
Kidney inflammation	Not recorded
Thickened glomerular basement membrane	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abnormal shape of the digestive system	Very often (80–99%)
Abnormality of esophagus structure	Very often (80–99%)
Esophageal tumor	Very often (80–99%)
Poor swallowing	Very often (80–99%)
Achalasia	Often (30–79%)
Acid reflux	Often (30–79%)
Hypoperistalsis	Often (30–79%)
Indigestion	Often (30–79%)
Vomiting	Often (30–79%)
Narrowing of the esophagus	Sometimes (5–29%)
Nasogastric tube feeding	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of the eye	Often (30–79%)
Anterior lenticonus	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Astigmatism	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Corneal inflammation	Sometimes (5–29%)
Retinal flecks	Sometimes (5–29%)
Macular hole	Rarely (1–4%)
Clouding of the lens of the eye at birth	Not recorded
Damage to outer layer of the cornea of the eye	Not recorded
Lenticonus	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal respiratory system morphology	Sometimes (5–29%)
Breathing difficulty	Sometimes (5–29%)
Cough	Sometimes (5–29%)
Tracheobronchial leiomyomatosis	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Very often (80–99%)
Small amount of blood in urine	Very often (80–99%)
Blood in urine	Often (30–79%)
Bloody urine	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Anti-smooth muscle antibody positivity	Often (30–79%)
Aspiration pneumonia	Sometimes (5–29%)
Recurrent respiratory infections	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Diffuse leiomyomatosis	Often (30–79%)
Fibroma	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Retinal bleeding	Often (30–79%)
Low platelet count	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Often (30–79%)
Hypertensive retinopathy	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Reduced epidermal collagen IV alpha 5 chain staining	Very often (80–99%)
Ichthyosis	Not recorded

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)
Precordial pain	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Weight loss	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Focal retinal arteriolar constriction	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased parathyroid hormone secretion	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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