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Tunnused
Geeniga BICD2 seotud tunnused
BICD cargo adaptor 2
Inimese fenotüübi ontoloogia seostab geeniga BICD2 82 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Club feet | Alati |
| Decreased Achilles reflex | Alati |
| Lower limb muscle weakness | Alati |
| Proximal lower limb muscle weakness | Alati |
| Decreased knee jerk reflex | Väga sageli (80–99%) |
| Winged shoulder blade | Väga sageli (80–99%) |
| Femur fracture | Sageli (30–79%) |
| Hand clenching | Sageli (30–79%) |
| Hip dislocation | Sageli (30–79%) |
| Hyporeflexia of lower limbs | Sageli (30–79%) |
| Inward turned thumb | Sageli (30–79%) |
| Shortening of the achilles tendon | Sageli (30–79%) |
| Single transverse palmar crease | Sageli (30–79%) |
| Ulnar deviation of the hand | Sageli (30–79%) |
| Abnormality of the Achilles tendon | Mõnikord (5–29%) |
| Distal lower limb muscle weakness | Mõnikord (5–29%) |
| Dropped arches | Mõnikord (5–29%) |
| High-arched foot | Mõnikord (5–29%) |
| Hip contracture | Mõnikord (5–29%) |
| Inability to straighten knee | Mõnikord (5–29%) |
| Hand muscle weakness | Harva (1–4%) |
| Weak shoulder muscles | Harva (1–4%) |
| Dislocated hip since birth | Pole registreeritud |
| Overlapping fingers | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Multiple joint contractures | Alati |
| Arthrogryposis multiplex congenita | Sageli (30–79%) |
| Congenital foot contraction deformities | Sageli (30–79%) |
| Distal lower limb amyotrophy | Sageli (30–79%) |
| Gowers sign | Sageli (30–79%) |
| Lower limb amyotrophy | Sageli (30–79%) |
| Prominent swayback | Sageli (30–79%) |
| Proximal neurogenic muscle weakness | Sageli (30–79%) |
| Weakness of outermost muscles | Sageli (30–79%) |
| Abnormal formation of the hip | Mõnikord (5–29%) |
| Axial muscle weakness | Mõnikord (5–29%) |
| Bulbar palsy | Mõnikord (5–29%) |
| Flexed joint that cannot be straightened | Mõnikord (5–29%) |
| Funnel chest | Mõnikord (5–29%) |
| Hunched back | Mõnikord (5–29%) |
| Scoliosis | Mõnikord (5–29%) |
| Decreased lung function due to weak breathing muscles | Pole registreeritud |
| Difficulty running | Pole registreeritud |
| Lower limb spasticity | Pole registreeritud |
| Muscle degeneration | Pole registreeritud |
| Severely decreased muscle tone | Pole registreeritud |
| Spinal muscle degeneration | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Waddling gait | Alati |
| Abnormal gait | Sageli (30–79%) |
| Cerebellar vermis hypoplasia | Sageli (30–79%) |
| Extra-axial cerebrospinal fluid accumulation | Sageli (30–79%) |
| Lateral ventricle dilatation | Sageli (30–79%) |
| Motor delay | Sageli (30–79%) |
| Perisylvian polymicrogyria | Sageli (30–79%) |
| Small cerebellum | Sageli (30–79%) |
| Spina bifida occulta | Sageli (30–79%) |
| Underdevelopment of part of brain called corpus callosum | Sageli (30–79%) |
| Wide based walk | Sageli (30–79%) |
| Babinski sign | Mõnikord (5–29%) |
| Decreased reflex response | Mõnikord (5–29%) |
| High stepping | Mõnikord (5–29%) |
| Increased reflexes | Mõnikord (5–29%) |
| Intellectual disability | Mõnikord (5–29%) |
| Muscle twitch | Mõnikord (5–29%) |
| Obstructive sleep apnea | Mõnikord (5–29%) |
| Absent reflexes | Pole registreeritud |
| Decrease in size of the outer layer of the brain due to loss of brain cells | Pole registreeritud |
| Toe walking | Pole registreeritud |
| Ventriculomegaly | Pole registreeritud |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Big calvaria | Sageli (30–79%) |
| Little lower jaw | Sageli (30–79%) |
| Midface retrusion | Pole registreeritud |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Central apnea | Sageli (30–79%) |
| Respiratory failure | Sageli (30–79%) |
| Stiff lung or chest wall causing decreased lung volume | Mõnikord (5–29%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High levels of amniotic fluid | Sageli (30–79%) |
| Less than 10 fetal movements in 12 hours | Sageli (30–79%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Subdural hemorrhage | Sageli (30–79%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Feeding difficulties | Sageli (30–79%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally shaped ears | Pole registreeritud |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Spinal dimple | Sageli (30–79%) |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Postexertional symptom exacerbation | Sageli (30–79%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Elevated blood creatine phosphokinase | 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 BICD2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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