AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga DST seotud tunnused
dystonin
Inimese fenotüübi ontoloogia seostab geeniga DST 139 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ankle contracture | Alati |
| Areflexia of lower limbs | Alati |
| Areflexia of upper limbs | Alati |
| Club foot on both sides | Alati |
| Congenital finger flexion contractures | Alati |
| Decreased arm strength | Alati |
| Elbow flexion contracture | Alati |
| Finger joint contracture | Alati |
| Foot drop | Alati |
| Hand clenching | Alati |
| Inward turned thumb | Alati |
| Overlapping fingers | Alati |
| Partial knee cap dislocation | Alati |
| Permanent flexion of the finger | Alati |
| Peroneal muscle atrophy | Alati |
| Proximal lower limb muscle weakness | Alati |
| Weak grip | Alati |
| Wrist drop | Alati |
| Wrist flexion contracture | Alati |
| Club feet | Sageli (30–79%) |
| Talipes | Sageli (30–79%) |
| Dislocated hip since birth | Mõnikord (5–29%) |
| Talipes calcaneovalgus | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal autonomic nervous system physiology | Alati |
| Bilateral vocal cord paresis | Alati |
| Choroid plexus cyst | Alati |
| Compound motor action potential abnormality | Alati |
| Delayed speech and language development | Alati |
| Encephalopathy | Alati |
| Global developmental delay | Alati |
| Inability to move vocal cords | Alati |
| Intellectual disability, mild | Alati |
| Loss of articulate speech | Alati |
| Motor delay | Alati |
| Pain insensitivity | Alati |
| Peripheral hypomyelination | Alati |
| Absent reflexes | Sageli (30–79%) |
| Epilepsy | Sageli (30–79%) |
| Profound global developmental delay | Sageli (30–79%) |
| Abnormality of movement | Mõnikord (5–29%) |
| Autism spectrum disorder | Mõnikord (5–29%) |
| Intellectual disability | Mõnikord (5–29%) |
| Ventriculomegaly | Mõnikord (5–29%) |
| Widened subarachnoid space | Mõnikord (5–29%) |
| Damage to nerves that sense feeling | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal left ventricular function | Alati |
| Heart stops beating | Alati |
| Increased blood pressure in blood vessels of lungs | Alati |
| Left axis deviation | Alati |
| Noncompaction cardiomyopathy | Alati |
| Patent foramen ovale | Alati |
| Sinus bradycardia | Alati |
| Sinus tachycardia | Alati |
| Stretched and thinned heart muscle | Alati |
| Elevated heart rate | Sageli (30–79%) |
| High blood pressure | Sageli (30–79%) |
| Hole in heart wall separating two lower heart chambers | Sageli (30–79%) |
| Left ventricular dilatation | Sageli (30–79%) |
| Mildly reduced left ventricular ejection fraction | Sageli (30–79%) |
| Redness of skin or mucous membrane | Sageli (30–79%) |
| Severely reduced left ventricular ejection fraction | Sageli (30–79%) |
| Slow heartbeats | Sageli (30–79%) |
| Cardiac failure | Mõnikord (5–29%) |
| Disease of the heart muscle | Mõnikord (5–29%) |
| Mitral regurgitation | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Arthrogryposis multiplex congenita | Alati |
| Decreased muscle tone in infant | Alati |
| Distal arthrogryposis | Alati |
| Elbow contracture | Alati |
| EMG: myotonic discharges | Alati |
| Flexed joint that cannot be straightened | Alati |
| Generalized decreased muscle tone | Alati |
| Hunched back | Alati |
| Involuntary muscle stiffness, contraction, or spasm | Alati |
| Low muscle tone | Alati |
| Low muscle tone, in neonatal onset | Alati |
| Muscle weakness | Alati |
| Narrow chest | Alati |
| Squared off shoulders | Alati |
| Thoracic hemivertebrae | Alati |
| Type 1 muscle fiber predominance | Alati |
| Limited hip extension | Sageli (30–79%) |
| Small chest | Sageli (30–79%) |
| Pigeon chest | Mõnikord (5–29%) |
| Scoliosis | Mõnikord (5–29%) |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent uvula | Alati |
| Big calvaria | Alati |
| High palate | Alati |
| High, narrow palate | Alati |
| Open mouth | Alati |
| Yellowing of the whites of the eyes | Alati |
| Myopathic facies | Sageli (30–79%) |
| Short chin | Sageli (30–79%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Apnea | Alati |
| Breathing difficulties | Alati |
| Low blood oxygen level | Alati |
| Noisy breathing | Alati |
| Respiratory failure | Alati |
| Ventilator dependence with inability to wean | Alati |
| Aspiration | Sageli (30–79%) |
| Neonatal respiratory distress | Sageli (30–79%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal blistering of the skin | Alati |
| Abnormal dermoepidermal hemidesmosome morphology | Alati |
| Poor toenail formation | Alati |
| Small nail | Alati |
| Blotching pigmentation of the skin | Sageli (30–79%) |
| Excessive sweating | Sageli (30–79%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Meconium stained amniotic fluid | Alati |
| Feet or buttocks of fetus positioned near opening of uterus | Sageli (30–79%) |
| High levels of amniotic fluid | Sageli (30–79%) |
| Less than 10 fetal movements in 12 hours | Sageli (30–79%) |
| Low levels of amniotic fluid | Sageli (30–79%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Acid reflux | Alati |
| Dependency on parenteral nutrition | Alati |
| Feeding difficulties | Alati |
| Poor suck | Alati |
| Poor swallowing | Alati |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Corneal scarring | Alati |
| Drooping of both upper eyelids | Alati |
| Drooping upper eyelid | Alati |
| Absence of tears in the eyes | Sageli (30–79%) |
| Absent corneal reflex | Sageli (30–79%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Alati |
| Increased body weight | Alati |
| Prenatal growth deficiency | Sageli (30–79%) |
| Small for gestational age | Mõnikord (5–29%) |
| Growth delay | Pole registreeritud |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Fever | Alati |
| Fluid around lungs | Sageli (30–79%) |
| Hyperpyrexia | Sageli (30–79%) |
| Nonimmune hydrops fetalis | Sageli (30–79%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low-set ears | Alati |
| Asymmetric ears | Mõnikord (5–29%) |
| Hearing impairment | Mõnikord (5–29%) |
Abnormality of the voice
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Weak cry | Alati |
| Weak voice | Alati |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Retinal bleeding | Alati |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Recurrent pneumonia | Mõnikord (5–29%) |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Sudden death | Mõnikord (5–29%) |
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 DST seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast