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Tunnused
Geeniga TOR1A seotud tunnused
torsin family 1 member A
Inimese fenotüübi ontoloogia seostab geeniga TOR1A 88 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 the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Akinesia | Alati |
| Babinski sign | Alati |
| Degeneration of cerebellum | Alati |
| Difficulty articulating speech | Alati |
| Dystonia | Alati |
| Generalized dystonia | Alati |
| Global developmental delay | Alati |
| Hand tremor | Alati |
| Inability to walk | Alati |
| Increased reflexes | Alati |
| Motor delay | Alati |
| Oromandibular dystonia | Alati |
| Tremor | Alati |
| Abnormal gait | Väga sageli (80–99%) |
| Abnormality of movement | Väga sageli (80–99%) |
| Jerking | Väga sageli (80–99%) |
| Limb myoclonus | Väga sageli (80–99%) |
| Spinal myoclonus | Väga sageli (80–99%) |
| Absent speech development | Sageli (30–79%) |
| Anxiety | Sageli (30–79%) |
| Depression | Sageli (30–79%) |
| Intellectual disability, severe | Sageli (30–79%) |
| Obsessive compulsive behavior | Sageli (30–79%) |
| Panic attack | Sageli (30–79%) |
| Personality disorder | Sageli (30–79%) |
| Writer's cramp | Sageli (30–79%) |
| Delayed speech and language development | Mõnikord (5–29%) |
| IQ between 34 and 49 | Mõnikord (5–29%) |
| Abnormal posturing | Pole registreeritud |
| Torsion dystonia | Pole registreeritud |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally small head | Alati |
| Bell's palsy | Alati |
| Deep laugh lines | Alati |
| Little lower jaw | Alati |
| Long philtrum | Alati |
| Nasal tip, upturned | Alati |
| Prominent back of the head | Alati |
| Round face | Alati |
| Short neck | Alati |
| Wide nasal bridge | Alati |
| Wry neck | Sageli (30–79%) |
| Upward slanting of the opening between the eyelids | Mõnikord (5–29%) |
| Eyelid spasm | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| 11 pairs of ribs | Alati |
| Arthrogryposis multiplex congenita | Alati |
| Flexed joint that cannot be straightened | Alati |
| Generalized decreased muscle tone | Alati |
| Multiple joint contractures | Alati |
| Permanent flexion of the finger or toe | Alati |
| Scoliosis | Alati |
| Spasticity and rigidity of muscles | Alati |
| Muscular abnormality | Väga sageli (80–99%) |
| Kyphoscoliosis | Sageli (30–79%) |
| Hunched back | Pole registreeritud |
| Low muscle tone | Pole registreeritud |
| Prominent swayback | Pole registreeritud |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent ankle reflexes | Alati |
| Elbow flexion contracture | Alati |
| Hammertoe | Alati |
| Hand clenching | Alati |
| Hip dislocation | Alati |
| Inward turned thumb | Alati |
| Limitation of knee mobility | Alati |
| Pes valgus | Alati |
| Rocker bottom foot | Alati |
| Club feet | Sageli (30–79%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Gastrostomy tube feeding in infancy | Alati |
| Inguinal hernia | Alati |
| Poor swallowing | Alati |
| Umbilical hernia | Sageli (30–79%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Acanthocytosis | Alati |
| Normocytic anemia | Alati |
| Poikilocytosis | Alati |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Cross-eyed | Alati |
| Optic disc pallor | Alati |
| Drooping upper eyelid | Sageli (30–79%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High levels of amniotic fluid | Alati |
| Less than 10 fetal movements in 12 hours | Alati |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Large ears | Alati |
| Prominent antihelix | Alati |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Neonatal respiratory distress | Alati |
| Stiff lung or chest wall causing decreased lung volume | Alati |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Growth delay | Alati |
| Prenatal growth deficiency | Alati |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Heart stops beating | Alati |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Medullary nephrocalcinosis | Alati |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Premature skin wrinkling | Mõnikord (5–29%) |
Abnormality of the voice
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the voice | 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 TOR1A seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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