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

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Right ventricular cardiomyopathy	Visada
Stretched and thinned heart muscle	Visada
Ventricular tachycardia	Visada
Left ventricular systolic dysfunction	Labai dažnai (80–99%)
Abnormal heart rate	Dažnai (30–79%)
Cardiac failure	Dažnai (30–79%)
Extra heart beat	Dažnai (30–79%)
Hypovolemic shock	Dažnai (30–79%)
Palmoplantar erythema	Dažnai (30–79%)
Disease of the heart muscle	Kartais (5–29%)
Enlarged heart	Kartais (5–29%)
Fainting spell	Kartais (5–29%)
Impaired myocardial contractility	Kartais (5–29%)
Pulmonic regurgitation	Kartais (5–29%)
Sudden cardiac death	Kartais (5–29%)
Ventricular fibrillation	Kartais (5–29%)
Redness of skin or mucous membrane	Neužfiksuota

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Abnormality in area between air sacs in lung	Labai dažnai (80–99%)
Cough	Dažnai (30–79%)
Crackles	Dažnai (30–79%)
Decreased DLCO	Dažnai (30–79%)
Exertional breathlessness	Dažnai (30–79%)
Ground-glass opacification	Dažnai (30–79%)
Honeycomb lung	Dažnai (30–79%)
Orthopnea	Dažnai (30–79%)
Permanent enlargement of the airways of the lungs	Dažnai (30–79%)
Pulmonary scarring	Dažnai (30–79%)
Reduced forced vital capacity	Dažnai (30–79%)
Respiratory failure	Dažnai (30–79%)
Reticular pattern on pulmonary HRCT	Dažnai (30–79%)
Subpleural honeycombing	Dažnai (30–79%)
Usual interstitial pneumonia	Dažnai (30–79%)
Orthodeoxia	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Gap between 1st and 2nd toes	Visada
Mitten deformity	Visada
Tapered outermost finger bone	Visada
Thickening of palms and soles	Visada
Widely spaced toes	Visada
Patchy palmoplantar hyperkeratosis	Labai dažnai (80–99%)
Clubbing of fingers	Dažnai (30–79%)
Curvature of little finger	Dažnai (30–79%)
Thickening of the outer layer of the skin of the palms and soles	Dažnai (30–79%)
Webbed fingers or toes	Dažnai (30–79%)
Camptodactyly of toe	Kartais (5–29%)
Webbed 2nd-3rd fingers	Kartais (5–29%)
Webbed 3rd-4th fingers	Kartais (5–29%)
Webbed 4th-5th finger	Kartais (5–29%)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Born with teeth	Visada
Decreased number of teeth	Visada
Absent eyebrow	Dažnai (30–79%)
Absent eyelashes	Dažnai (30–79%)
Sparse eyebrow	Dažnai (30–79%)
Sparse eyelashes	Dažnai (30–79%)
Cleft palate	Kartais (5–29%)
Gingival recession	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Abnormality of the skeletal system	Kartais (5–29%)
EMG abnormality	Kartais (5–29%)
Loss of fat tissue in localized area	Kartais (5–29%)
Muscle tissue disease	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Abnormal helix morphology	Kartais (5–29%)
Abnormally shaped ears	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Fatigue	Dažnai (30–79%)
Decreased ability to exercise	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Prenatal growth deficiency	Kartais (5–29%)

Abnormal cellular phenotype

Trait	Kaip dažnai pasireiškia
Cardiomyocyte hypertrophy	Neužfiksuota

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Thromboembolic stroke	Kartais (5–29%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Low levels of amniotic fluid	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Acid reflux	Dažnai (30–79%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Fluid retention	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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