Traits

Traits linked to COL4A6

collagen type IV alpha 6 chain

The Human Phenotype Ontology links 41 traits to COL4A6, by body system: features seen in people with one of the gene's rare conditions.

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 genitourinary system

Trait	How often it is seen
Abnormality of the female genitalia	Often (30–79%)
Chronic kidney disease	Often (30–79%)
Kidney damage	Often (30–79%)
Stage 5 chronic kidney disease	Sometimes (5–29%)
Tumor of the vulva	Sometimes (5–29%)
Uterine cancer	Sometimes (5–29%)
Vaginal tumor	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of the eye	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Anterior lenticonus	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Corneal inflammation	Sometimes (5–29%)

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%)

Abnormality of the ear

Trait	How often it is seen
Bilateral sensorineural hearing impairment	Always
Incomplete partition of the cochlea	Always
Sensorineural hearing impairment	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%)

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%)

Laboratory abnormality

Trait	How often it is seen
Blood in urine	Often (30–79%)
High urine protein levels	Often (30–79%)

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 COL4A6 and how often each is seen. Find out more at hpo.jax.org.

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