AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymiai
Su DST susiję požymiai
dystonin
Žmogaus fenotipo ontologija sieja 139 požymių su DST, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of limbs
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Ankle contracture | Visada |
| Areflexia of lower limbs | Visada |
| Areflexia of upper limbs | Visada |
| Club foot on both sides | Visada |
| Congenital finger flexion contractures | Visada |
| Decreased arm strength | Visada |
| Elbow flexion contracture | Visada |
| Finger joint contracture | Visada |
| Foot drop | Visada |
| Hand clenching | Visada |
| Inward turned thumb | Visada |
| Overlapping fingers | Visada |
| Partial knee cap dislocation | Visada |
| Permanent flexion of the finger | Visada |
| Peroneal muscle atrophy | Visada |
| Proximal lower limb muscle weakness | Visada |
| Weak grip | Visada |
| Wrist drop | Visada |
| Wrist flexion contracture | Visada |
| Club feet | Dažnai (30–79%) |
| Talipes | Dažnai (30–79%) |
| Dislocated hip since birth | Kartais (5–29%) |
| Talipes calcaneovalgus | Kartais (5–29%) |
Abnormality of the nervous system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal autonomic nervous system physiology | Visada |
| Bilateral vocal cord paresis | Visada |
| Choroid plexus cyst | Visada |
| Compound motor action potential abnormality | Visada |
| Delayed speech and language development | Visada |
| Encephalopathy | Visada |
| Global developmental delay | Visada |
| Inability to move vocal cords | Visada |
| Intellectual disability, mild | Visada |
| Loss of articulate speech | Visada |
| Motor delay | Visada |
| Pain insensitivity | Visada |
| Peripheral hypomyelination | Visada |
| Absent reflexes | Dažnai (30–79%) |
| Epilepsy | Dažnai (30–79%) |
| Profound global developmental delay | Dažnai (30–79%) |
| Abnormality of movement | Kartais (5–29%) |
| Autism spectrum disorder | Kartais (5–29%) |
| Intellectual disability | Kartais (5–29%) |
| Ventriculomegaly | Kartais (5–29%) |
| Widened subarachnoid space | Kartais (5–29%) |
| Damage to nerves that sense feeling | Neužfiksuota |
Abnormality of the cardiovascular system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal left ventricular function | Visada |
| Heart stops beating | Visada |
| Increased blood pressure in blood vessels of lungs | Visada |
| Left axis deviation | Visada |
| Noncompaction cardiomyopathy | Visada |
| Patent foramen ovale | Visada |
| Sinus bradycardia | Visada |
| Sinus tachycardia | Visada |
| Stretched and thinned heart muscle | Visada |
| Elevated heart rate | Dažnai (30–79%) |
| High blood pressure | Dažnai (30–79%) |
| Hole in heart wall separating two lower heart chambers | Dažnai (30–79%) |
| Left ventricular dilatation | Dažnai (30–79%) |
| Mildly reduced left ventricular ejection fraction | Dažnai (30–79%) |
| Redness of skin or mucous membrane | Dažnai (30–79%) |
| Severely reduced left ventricular ejection fraction | Dažnai (30–79%) |
| Slow heartbeats | Dažnai (30–79%) |
| Cardiac failure | Kartais (5–29%) |
| Disease of the heart muscle | Kartais (5–29%) |
| Mitral regurgitation | Kartais (5–29%) |
Abnormality of the musculoskeletal system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Arthrogryposis multiplex congenita | Visada |
| Decreased muscle tone in infant | Visada |
| Distal arthrogryposis | Visada |
| Elbow contracture | Visada |
| EMG: myotonic discharges | Visada |
| Flexed joint that cannot be straightened | Visada |
| Generalized decreased muscle tone | Visada |
| Hunched back | Visada |
| Involuntary muscle stiffness, contraction, or spasm | Visada |
| Low muscle tone | Visada |
| Low muscle tone, in neonatal onset | Visada |
| Muscle weakness | Visada |
| Narrow chest | Visada |
| Squared off shoulders | Visada |
| Thoracic hemivertebrae | Visada |
| Type 1 muscle fiber predominance | Visada |
| Limited hip extension | Dažnai (30–79%) |
| Small chest | Dažnai (30–79%) |
| Pigeon chest | Kartais (5–29%) |
| Scoliosis | Kartais (5–29%) |
Abnormality of head or neck
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Absent uvula | Visada |
| Big calvaria | Visada |
| High palate | Visada |
| High, narrow palate | Visada |
| Open mouth | Visada |
| Yellowing of the whites of the eyes | Visada |
| Myopathic facies | Dažnai (30–79%) |
| Short chin | Dažnai (30–79%) |
Abnormality of the respiratory system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Apnea | Visada |
| Breathing difficulties | Visada |
| Low blood oxygen level | Visada |
| Noisy breathing | Visada |
| Respiratory failure | Visada |
| Ventilator dependence with inability to wean | Visada |
| Aspiration | Dažnai (30–79%) |
| Neonatal respiratory distress | Dažnai (30–79%) |
Abnormality of the integument
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal blistering of the skin | Visada |
| Abnormal dermoepidermal hemidesmosome morphology | Visada |
| Poor toenail formation | Visada |
| Small nail | Visada |
| Blotching pigmentation of the skin | Dažnai (30–79%) |
| Excessive sweating | Dažnai (30–79%) |
Abnormality of prenatal development or birth
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Meconium stained amniotic fluid | Visada |
| Feet or buttocks of fetus positioned near opening of uterus | Dažnai (30–79%) |
| High levels of amniotic fluid | Dažnai (30–79%) |
| Less than 10 fetal movements in 12 hours | Dažnai (30–79%) |
| Low levels of amniotic fluid | Dažnai (30–79%) |
Abnormality of the digestive system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Acid reflux | Visada |
| Dependency on parenteral nutrition | Visada |
| Feeding difficulties | Visada |
| Poor suck | Visada |
| Poor swallowing | Visada |
Abnormality of the eye
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Corneal scarring | Visada |
| Drooping of both upper eyelids | Visada |
| Drooping upper eyelid | Visada |
| Absence of tears in the eyes | Dažnai (30–79%) |
| Absent corneal reflex | Dažnai (30–79%) |
Growth abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Faltering weight | Visada |
| Increased body weight | Visada |
| Prenatal growth deficiency | Dažnai (30–79%) |
| Small for gestational age | Kartais (5–29%) |
| Growth delay | Neužfiksuota |
Laboratory abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Fever | Visada |
| Fluid around lungs | Dažnai (30–79%) |
| Hyperpyrexia | Dažnai (30–79%) |
| Nonimmune hydrops fetalis | Dažnai (30–79%) |
Abnormality of the ear
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Low-set ears | Visada |
| Asymmetric ears | Kartais (5–29%) |
| Hearing impairment | Kartais (5–29%) |
Abnormality of the voice
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Weak cry | Visada |
| Weak voice | Visada |
Abnormality of blood and blood-forming tissues
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Retinal bleeding | Visada |
Abnormality of the immune system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Recurrent pneumonia | Kartais (5–29%) |
Constitutional symptom
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Sudden death | Kartais (5–29%) |
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
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su DST susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
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