AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
Traits
Traits linked to COL7A1
collagen type VII alpha 1 chain
The Human Phenotype Ontology links 131 traits to COL7A1, by body system: features seen in people with one of the gene's rare conditions.
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
Abnormality of the integument
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Gastrointestinal inflammation | Very often (80–99%) |
| Abnormality of esophagus structure | Often (30–79%) |
| Acid reflux | Often (30–79%) |
| Constipation | Often (30–79%) |
| Feeding difficulties | Often (30–79%) |
| Malnutrition | Often (30–79%) |
| Narrowing of esophagus due to inflammation and scar tissue | Often (30–79%) |
| Narrowing of the esophagus | Often (30–79%) |
| Poor swallowing | Often (30–79%) |
| Anal fissure | Sometimes (5–29%) |
| Esophagus ulcer | Sometimes (5–29%) |
| Gastrostomy tube feeding in infancy | Sometimes (5–29%) |
| Spontaneous esophageal perforation | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Mitten deformity | Very often (80–99%) |
| Abnormality of the elbow | Often (30–79%) |
| Abnormality of the lower limb | Often (30–79%) |
| Abnormality of the wrist | Often (30–79%) |
| Palmoplantar blistering | Often (30–79%) |
| Thickening of the outer layer of the skin of the palms and soles | Often (30–79%) |
| Abnormality of the forearm | Sometimes (5–29%) |
| Abnormality of the knee | Sometimes (5–29%) |
| Contractures of the foot joints | Sometimes (5–29%) |
| Thickening of palms and soles | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Oral mucosal blisters | Always |
| Dental cavities | Very often (80–99%) |
| Abnormality of the scalp | Often (30–79%) |
| Erosion of oral mucosa | Often (30–79%) |
| Abnormality of head or neck | Sometimes (5–29%) |
| Narrow mouth | Sometimes (5–29%) |
| Tongue tied | Sometimes (5–29%) |
| Pink eye | Not recorded |
| Thin dental enamel | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Urinary tract abnormalities | Often (30–79%) |
| Chronic kidney disease | Sometimes (5–29%) |
| Glomerulonephritis | Sometimes (5–29%) |
| IgA deposition in the glomerulus | Sometimes (5–29%) |
| Renal failure | Sometimes (5–29%) |
| Urethral stricture | Sometimes (5–29%) |
| Urinary bladder sphincter dysfunction | Sometimes (5–29%) |
| Vaginal stricture | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Abnormal circulating selenium concentration | Very often (80–99%) |
| Decreased circulating iron concentration | Often (30–79%) |
| Decreased serum zinc | Often (30–79%) |
| Deficient in vitamin D | Often (30–79%) |
| Low albumin | Often (30–79%) |
| Abnormality of vitamin metabolism | Sometimes (5–29%) |
| Renal amyloidosis | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Abnormality of the eye | Often (30–79%) |
| Damage to outer layer of the cornea of the eye | Sometimes (5–29%) |
| Visual loss | Sometimes (5–29%) |
| Clouding of the lens of the eye | Not recorded |
| Corneal scarring | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Flexed joint that cannot be straightened | Very often (80–99%) |
| Muscle degeneration | Often (30–79%) |
| Osteopenia | Sometimes (5–29%) |
| Osteoporosis | Sometimes (5–29%) |
| Scarring | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Carnitine deficiency | Often (30–79%) |
| Decreased plasma total carnitine | Sometimes (5–29%) |
| Increased circulating IgE concentration | Rarely (1–4%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Redness of skin or mucous membrane | Often (30–79%) |
| Spider veins | Often (30–79%) |
| Stretched and thinned heart muscle | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Decreased body weight | Very often (80–99%) |
| Growth delay | Very often (80–99%) |
| Faltering weight | Often (30–79%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Low number of red blood cells or hemoglobin | Very often (80–99%) |
| Iron deficiency anemia | Often (30–79%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Crusting erythematous dermatitis | Often (30–79%) |
| Recurrent skin infections | Often (30–79%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Anxiety | Often (30–79%) |
| Depression | Often (30–79%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Narrow ear canal | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Delayed puberty | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Abnormal respiratory system morphology | Not recorded |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Chronic pain | Very often (80–99%) |
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 COL7A1 and how often each is seen. Find out more at hpo.jax.org.
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks