Tunnused

Geeniga DSP seotud tunnused

desmoplakin

Inimese fenotüübi ontoloogia seostab geeniga DSP 99 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal blistering of the skin	Alati
Absence of part of skin at birth	Alati
Absent fingernail	Alati
Absent nails	Alati
Acantholysis	Alati
Afro-textured hair	Alati
Alopecia totalis	Alati
Alopecia universalis	Alati
Fragile skin	Alati
Hyperkeratosis	Alati
Skin erosion	Alati
Thickening of upper layer of skin	Alati
Abnormal dermoepidermal hemidesmosome morphology	Sageli (30–79%)
Abnormal dermoepidermal junction morphology	Sageli (30–79%)
Abnormality of the hair	Sageli (30–79%)
Abnormality of the nail	Sageli (30–79%)
Absent hair	Sageli (30–79%)
Absent toenail	Sageli (30–79%)
Congenital alopecia totalis	Sageli (30–79%)
Hair loss	Sageli (30–79%)
Palmoplantar scaling skin	Sageli (30–79%)
Persistent blue color of hands or feet	Sageli (30–79%)
Poor nail formation	Sageli (30–79%)
Brittle nails	Mõnikord (5–29%)
Ichthyosis	Mõnikord (5–29%)
Itching	Mõnikord (5–29%)
White discoloration of nails	Mõnikord (5–29%)
Parakeratosis	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Right ventricular cardiomyopathy	Alati
Stretched and thinned heart muscle	Alati
Ventricular tachycardia	Alati
Left ventricular systolic dysfunction	Väga sageli (80–99%)
Abnormal heart rate	Sageli (30–79%)
Cardiac failure	Sageli (30–79%)
Extra heart beat	Sageli (30–79%)
Hypovolemic shock	Sageli (30–79%)
Palmoplantar erythema	Sageli (30–79%)
Disease of the heart muscle	Mõnikord (5–29%)
Enlarged heart	Mõnikord (5–29%)
Fainting spell	Mõnikord (5–29%)
Impaired myocardial contractility	Mõnikord (5–29%)
Pulmonic regurgitation	Mõnikord (5–29%)
Sudden cardiac death	Mõnikord (5–29%)
Ventricular fibrillation	Mõnikord (5–29%)
Redness of skin or mucous membrane	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormality in area between air sacs in lung	Väga sageli (80–99%)
Cough	Sageli (30–79%)
Crackles	Sageli (30–79%)
Decreased DLCO	Sageli (30–79%)
Exertional breathlessness	Sageli (30–79%)
Ground-glass opacification	Sageli (30–79%)
Honeycomb lung	Sageli (30–79%)
Orthopnea	Sageli (30–79%)
Permanent enlargement of the airways of the lungs	Sageli (30–79%)
Pulmonary scarring	Sageli (30–79%)
Reduced forced vital capacity	Sageli (30–79%)
Respiratory failure	Sageli (30–79%)
Reticular pattern on pulmonary HRCT	Sageli (30–79%)
Subpleural honeycombing	Sageli (30–79%)
Usual interstitial pneumonia	Sageli (30–79%)
Orthodeoxia	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Gap between 1st and 2nd toes	Alati
Mitten deformity	Alati
Tapered outermost finger bone	Alati
Thickening of palms and soles	Alati
Widely spaced toes	Alati
Patchy palmoplantar hyperkeratosis	Väga sageli (80–99%)
Clubbing of fingers	Sageli (30–79%)
Curvature of little finger	Sageli (30–79%)
Thickening of the outer layer of the skin of the palms and soles	Sageli (30–79%)
Webbed fingers or toes	Sageli (30–79%)
Camptodactyly of toe	Mõnikord (5–29%)
Webbed 2nd-3rd fingers	Mõnikord (5–29%)
Webbed 3rd-4th fingers	Mõnikord (5–29%)
Webbed 4th-5th finger	Mõnikord (5–29%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Born with teeth	Alati
Decreased number of teeth	Alati
Absent eyebrow	Sageli (30–79%)
Absent eyelashes	Sageli (30–79%)
Sparse eyebrow	Sageli (30–79%)
Sparse eyelashes	Sageli (30–79%)
Cleft palate	Mõnikord (5–29%)
Gingival recession	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the skeletal system	Mõnikord (5–29%)
EMG abnormality	Mõnikord (5–29%)
Loss of fat tissue in localized area	Mõnikord (5–29%)
Muscle tissue disease	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Abnormal helix morphology	Mõnikord (5–29%)
Abnormally shaped ears	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Fatigue	Sageli (30–79%)
Decreased ability to exercise	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Prenatal growth deficiency	Mõnikord (5–29%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Cardiomyocyte hypertrophy	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Thromboembolic stroke	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Low levels of amniotic fluid	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Acid reflux	Sageli (30–79%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Fluid retention	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga DSP seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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