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	Hvor ofte det ses
Abnormal blistering of the skin	Altid
Absence of part of skin at birth	Altid
Absent fingernail	Altid
Absent nails	Altid
Acantholysis	Altid
Afro-textured hair	Altid
Alopecia totalis	Altid
Alopecia universalis	Altid
Fragile skin	Altid
Hyperkeratosis	Altid
Skin erosion	Altid
Thickening of upper layer of skin	Altid
Abnormal dermoepidermal hemidesmosome morphology	Ofte (30–79 %)
Abnormal dermoepidermal junction morphology	Ofte (30–79 %)
Abnormality of the hair	Ofte (30–79 %)
Abnormality of the nail	Ofte (30–79 %)
Absent hair	Ofte (30–79 %)
Absent toenail	Ofte (30–79 %)
Congenital alopecia totalis	Ofte (30–79 %)
Hair loss	Ofte (30–79 %)
Palmoplantar scaling skin	Ofte (30–79 %)
Persistent blue color of hands or feet	Ofte (30–79 %)
Poor nail formation	Ofte (30–79 %)
Brittle nails	Nogle gange (5–29 %)
Ichthyosis	Nogle gange (5–29 %)
Itching	Nogle gange (5–29 %)
White discoloration of nails	Nogle gange (5–29 %)
Parakeratosis	Ikke registreret

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Right ventricular cardiomyopathy	Altid
Stretched and thinned heart muscle	Altid
Ventricular tachycardia	Altid
Left ventricular systolic dysfunction	Meget ofte (80–99 %)
Abnormal heart rate	Ofte (30–79 %)
Cardiac failure	Ofte (30–79 %)
Extra heart beat	Ofte (30–79 %)
Hypovolemic shock	Ofte (30–79 %)
Palmoplantar erythema	Ofte (30–79 %)
Disease of the heart muscle	Nogle gange (5–29 %)
Enlarged heart	Nogle gange (5–29 %)
Fainting spell	Nogle gange (5–29 %)
Impaired myocardial contractility	Nogle gange (5–29 %)
Pulmonic regurgitation	Nogle gange (5–29 %)
Sudden cardiac death	Nogle gange (5–29 %)
Ventricular fibrillation	Nogle gange (5–29 %)
Redness of skin or mucous membrane	Ikke registreret

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Abnormality in area between air sacs in lung	Meget ofte (80–99 %)
Cough	Ofte (30–79 %)
Crackles	Ofte (30–79 %)
Decreased DLCO	Ofte (30–79 %)
Exertional breathlessness	Ofte (30–79 %)
Ground-glass opacification	Ofte (30–79 %)
Honeycomb lung	Ofte (30–79 %)
Orthopnea	Ofte (30–79 %)
Permanent enlargement of the airways of the lungs	Ofte (30–79 %)
Pulmonary scarring	Ofte (30–79 %)
Reduced forced vital capacity	Ofte (30–79 %)
Respiratory failure	Ofte (30–79 %)
Reticular pattern on pulmonary HRCT	Ofte (30–79 %)
Subpleural honeycombing	Ofte (30–79 %)
Usual interstitial pneumonia	Ofte (30–79 %)
Orthodeoxia	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Gap between 1st and 2nd toes	Altid
Mitten deformity	Altid
Tapered outermost finger bone	Altid
Thickening of palms and soles	Altid
Widely spaced toes	Altid
Patchy palmoplantar hyperkeratosis	Meget ofte (80–99 %)
Clubbing of fingers	Ofte (30–79 %)
Curvature of little finger	Ofte (30–79 %)
Thickening of the outer layer of the skin of the palms and soles	Ofte (30–79 %)
Webbed fingers or toes	Ofte (30–79 %)
Camptodactyly of toe	Nogle gange (5–29 %)
Webbed 2nd-3rd fingers	Nogle gange (5–29 %)
Webbed 3rd-4th fingers	Nogle gange (5–29 %)
Webbed 4th-5th finger	Nogle gange (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte det ses
Born with teeth	Altid
Decreased number of teeth	Altid
Absent eyebrow	Ofte (30–79 %)
Absent eyelashes	Ofte (30–79 %)
Sparse eyebrow	Ofte (30–79 %)
Sparse eyelashes	Ofte (30–79 %)
Cleft palate	Nogle gange (5–29 %)
Gingival recession	Ikke registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Abnormality of the skeletal system	Nogle gange (5–29 %)
EMG abnormality	Nogle gange (5–29 %)
Loss of fat tissue in localized area	Nogle gange (5–29 %)
Muscle tissue disease	Nogle gange (5–29 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Abnormal helix morphology	Nogle gange (5–29 %)
Abnormally shaped ears	Nogle gange (5–29 %)
Sensorineural hearing impairment	Nogle gange (5–29 %)

Constitutional symptom

Trait	Hvor ofte det ses
Fatigue	Ofte (30–79 %)
Decreased ability to exercise	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Faltering weight	Ofte (30–79 %)
Prenatal growth deficiency	Nogle gange (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte det ses
Cardiomyocyte hypertrophy	Ikke registreret

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte det ses
Thromboembolic stroke	Nogle gange (5–29 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
Low levels of amniotic fluid	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Acid reflux	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte det ses
Fluid retention	Ofte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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