Traits

Traits linked to DSG1

desmoglein 1

The Human Phenotype Ontology links 34 traits to DSG1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	How often it is seen
Acantholysis	Always
Detachment of nail	Always
Excessive sweating	Always
Hypergranulosis	Always
Ichthyosis	Always
Orthokeratosis	Always
Orthokeratotic hyperkeratosis	Always
Poor nail formation	Always
Streaks of hyperkeratosis along each finger onto the palm	Always
Thickening of upper layer of skin	Always
Yellow nails	Always
Abnormality of the hair	Often (30–79%)
Abnormality of the nail	Often (30–79%)
Sparse hair	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Food allergy	Always
Psoriasiform dermatitis	Always
Recurrent respiratory infections	Always
Red scaly skin caused by inflammatory skin disease	Always
Recurrent skin infections	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Palmoplantar blistering	Always
Thickening of palms and soles	Always
Thickening of the outer layer of the skin of the palms and soles	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Multiple muscular ventricular septal defects	Often (30–79%)
Narrowing of pulmonic valve	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Malabsorption	Always
Eosinophilic infiltration of the esophagus	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay	Not recorded

Laboratory abnormality

Trait	How often it is seen
High blood sodium levels	Always
Low albumin	Always

Abnormal cellular phenotype

Trait	How often it is seen
Increased circulating IgE concentration	Always

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Reduced circulating growth hormone concentration	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always

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 DSG1 and how often each is seen. Find out more at hpo.jax.org.

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