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	Cât de frecvent apare
Abnormal blistering of the skin	Întotdeauna
Absence of part of skin at birth	Întotdeauna
Absent fingernail	Întotdeauna
Absent nails	Întotdeauna
Acantholysis	Întotdeauna
Afro-textured hair	Întotdeauna
Alopecia totalis	Întotdeauna
Alopecia universalis	Întotdeauna
Fragile skin	Întotdeauna
Hyperkeratosis	Întotdeauna
Skin erosion	Întotdeauna
Thickening of upper layer of skin	Întotdeauna
Abnormal dermoepidermal hemidesmosome morphology	Des (30–79%)
Abnormal dermoepidermal junction morphology	Des (30–79%)
Abnormality of the hair	Des (30–79%)
Abnormality of the nail	Des (30–79%)
Absent hair	Des (30–79%)
Absent toenail	Des (30–79%)
Congenital alopecia totalis	Des (30–79%)
Hair loss	Des (30–79%)
Palmoplantar scaling skin	Des (30–79%)
Persistent blue color of hands or feet	Des (30–79%)
Poor nail formation	Des (30–79%)
Brittle nails	Uneori (5–29%)
Ichthyosis	Uneori (5–29%)
Itching	Uneori (5–29%)
White discoloration of nails	Uneori (5–29%)
Parakeratosis	Neînregistrat

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Right ventricular cardiomyopathy	Întotdeauna
Stretched and thinned heart muscle	Întotdeauna
Ventricular tachycardia	Întotdeauna
Left ventricular systolic dysfunction	Foarte des (80–99%)
Abnormal heart rate	Des (30–79%)
Cardiac failure	Des (30–79%)
Extra heart beat	Des (30–79%)
Hypovolemic shock	Des (30–79%)
Palmoplantar erythema	Des (30–79%)
Disease of the heart muscle	Uneori (5–29%)
Enlarged heart	Uneori (5–29%)
Fainting spell	Uneori (5–29%)
Impaired myocardial contractility	Uneori (5–29%)
Pulmonic regurgitation	Uneori (5–29%)
Sudden cardiac death	Uneori (5–29%)
Ventricular fibrillation	Uneori (5–29%)
Redness of skin or mucous membrane	Neînregistrat

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Abnormality in area between air sacs in lung	Foarte des (80–99%)
Cough	Des (30–79%)
Crackles	Des (30–79%)
Decreased DLCO	Des (30–79%)
Exertional breathlessness	Des (30–79%)
Ground-glass opacification	Des (30–79%)
Honeycomb lung	Des (30–79%)
Orthopnea	Des (30–79%)
Permanent enlargement of the airways of the lungs	Des (30–79%)
Pulmonary scarring	Des (30–79%)
Reduced forced vital capacity	Des (30–79%)
Respiratory failure	Des (30–79%)
Reticular pattern on pulmonary HRCT	Des (30–79%)
Subpleural honeycombing	Des (30–79%)
Usual interstitial pneumonia	Des (30–79%)
Orthodeoxia	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Gap between 1st and 2nd toes	Întotdeauna
Mitten deformity	Întotdeauna
Tapered outermost finger bone	Întotdeauna
Thickening of palms and soles	Întotdeauna
Widely spaced toes	Întotdeauna
Patchy palmoplantar hyperkeratosis	Foarte des (80–99%)
Clubbing of fingers	Des (30–79%)
Curvature of little finger	Des (30–79%)
Thickening of the outer layer of the skin of the palms and soles	Des (30–79%)
Webbed fingers or toes	Des (30–79%)
Camptodactyly of toe	Uneori (5–29%)
Webbed 2nd-3rd fingers	Uneori (5–29%)
Webbed 3rd-4th fingers	Uneori (5–29%)
Webbed 4th-5th finger	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Born with teeth	Întotdeauna
Decreased number of teeth	Întotdeauna
Absent eyebrow	Des (30–79%)
Absent eyelashes	Des (30–79%)
Sparse eyebrow	Des (30–79%)
Sparse eyelashes	Des (30–79%)
Cleft palate	Uneori (5–29%)
Gingival recession	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Abnormality of the skeletal system	Uneori (5–29%)
EMG abnormality	Uneori (5–29%)
Loss of fat tissue in localized area	Uneori (5–29%)
Muscle tissue disease	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Abnormal helix morphology	Uneori (5–29%)
Abnormally shaped ears	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)

Constitutional symptom

Trait	Cât de frecvent apare
Fatigue	Des (30–79%)
Decreased ability to exercise	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Des (30–79%)
Prenatal growth deficiency	Uneori (5–29%)

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Cardiomyocyte hypertrophy	Neînregistrat

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Thromboembolic stroke	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Low levels of amniotic fluid	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Acid reflux	Des (30–79%)

Laboratory abnormality

Trait	Cât de frecvent apare
Fluid retention	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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