Traits

Traits linked to DSP

desmoplakin

The Human Phenotype Ontology links 99 traits to DSP, 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
Abnormal blistering of the skin	Always
Absence of part of skin at birth	Always
Absent fingernail	Always
Absent nails	Always
Acantholysis	Always
Afro-textured hair	Always
Alopecia totalis	Always
Alopecia universalis	Always
Fragile skin	Always
Hyperkeratosis	Always
Skin erosion	Always
Thickening of upper layer of skin	Always
Abnormal dermoepidermal hemidesmosome morphology	Often (30–79%)
Abnormal dermoepidermal junction morphology	Often (30–79%)
Abnormality of the hair	Often (30–79%)
Abnormality of the nail	Often (30–79%)
Absent hair	Often (30–79%)
Absent toenail	Often (30–79%)
Congenital alopecia totalis	Often (30–79%)
Hair loss	Often (30–79%)
Palmoplantar scaling skin	Often (30–79%)
Persistent blue color of hands or feet	Often (30–79%)
Poor nail formation	Often (30–79%)
Brittle nails	Sometimes (5–29%)
Ichthyosis	Sometimes (5–29%)
Itching	Sometimes (5–29%)
White discoloration of nails	Sometimes (5–29%)
Parakeratosis	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Right ventricular cardiomyopathy	Always
Stretched and thinned heart muscle	Always
Ventricular tachycardia	Always
Left ventricular systolic dysfunction	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
Cardiac failure	Often (30–79%)
Extra heart beat	Often (30–79%)
Hypovolemic shock	Often (30–79%)
Palmoplantar erythema	Often (30–79%)
Disease of the heart muscle	Sometimes (5–29%)
Enlarged heart	Sometimes (5–29%)
Fainting spell	Sometimes (5–29%)
Impaired myocardial contractility	Sometimes (5–29%)
Pulmonic regurgitation	Sometimes (5–29%)
Sudden cardiac death	Sometimes (5–29%)
Ventricular fibrillation	Sometimes (5–29%)
Redness of skin or mucous membrane	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality in area between air sacs in lung	Very often (80–99%)
Cough	Often (30–79%)
Crackles	Often (30–79%)
Decreased DLCO	Often (30–79%)
Exertional breathlessness	Often (30–79%)
Ground-glass opacification	Often (30–79%)
Honeycomb lung	Often (30–79%)
Orthopnea	Often (30–79%)
Permanent enlargement of the airways of the lungs	Often (30–79%)
Pulmonary scarring	Often (30–79%)
Reduced forced vital capacity	Often (30–79%)
Respiratory failure	Often (30–79%)
Reticular pattern on pulmonary HRCT	Often (30–79%)
Subpleural honeycombing	Often (30–79%)
Usual interstitial pneumonia	Often (30–79%)
Orthodeoxia	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Gap between 1st and 2nd toes	Always
Mitten deformity	Always
Tapered outermost finger bone	Always
Thickening of palms and soles	Always
Widely spaced toes	Always
Patchy palmoplantar hyperkeratosis	Very often (80–99%)
Clubbing of fingers	Often (30–79%)
Curvature of little finger	Often (30–79%)
Thickening of the outer layer of the skin of the palms and soles	Often (30–79%)
Webbed fingers or toes	Often (30–79%)
Camptodactyly of toe	Sometimes (5–29%)
Webbed 2nd-3rd fingers	Sometimes (5–29%)
Webbed 3rd-4th fingers	Sometimes (5–29%)
Webbed 4th-5th finger	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Born with teeth	Always
Decreased number of teeth	Always
Absent eyebrow	Often (30–79%)
Absent eyelashes	Often (30–79%)
Sparse eyebrow	Often (30–79%)
Sparse eyelashes	Often (30–79%)
Cleft palate	Sometimes (5–29%)
Gingival recession	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of the skeletal system	Sometimes (5–29%)
EMG abnormality	Sometimes (5–29%)
Loss of fat tissue in localized area	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormal helix morphology	Sometimes (5–29%)
Abnormally shaped ears	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Decreased ability to exercise	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Prenatal growth deficiency	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Cardiomyocyte hypertrophy	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Thromboembolic stroke	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Fluid retention	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 DSP and how often each is seen. Find out more at hpo.jax.org.

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