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Tunnused

Geeniga TBCD seotud tunnused

tubulin folding cofactor D

Inimese fenotüübi ontoloogia seostab geeniga TBCD 84 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

TunnusKui sageli seda täheldatakse
Delayed speech and language developmentAlati
Global developmental delayAlati
Intellectual disabilityAlati
Brisk reflexesVäga sageli (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cellsVäga sageli (80–99%)
EpilepsyVäga sageli (80–99%)
Underdevelopment of part of brain called corpus callosumVäga sageli (80–99%)
Absent speech developmentSageli (30–79%)
AtaxiaSageli (30–79%)
Cerebral hypomyelinationSageli (30–79%)
Degeneration of cerebellumSageli (30–79%)
Generalized tonic seizureSageli (30–79%)
Grand mal seizuresSageli (30–79%)
Inability to walkSageli (30–79%)
IQ less than 20Sageli (30–79%)
Loss of developmental milestonesSageli (30–79%)
Paralysis of all four limbsSageli (30–79%)
Poor speechSageli (30–79%)
Absent reflexesMõnikord (5–29%)
Atrophy/Degeneration affecting the brainstemMõnikord (5–29%)
CataplexyMõnikord (5–29%)
CNS hypomyelinationMõnikord (5–29%)
Epileptic spasmMõnikord (5–29%)
IQ between 34 and 49Mõnikord (5–29%)
Muscle twitchMõnikord (5–29%)
VentriculomegalyMõnikord (5–29%)
DystoniaHarva (1–4%)
Febrile seizure (within the age range of 3 months to 6 years)Harva (1–4%)
Motor axonal neuropathyHarva (1–4%)
Repetitive movementsHarva (1–4%)
Diffuse cerebral atrophyPole registreeritud
EncephalopathyPole registreeritud
GliosisPole registreeritud
Loss of brain cellsPole registreeritud

Abnormality of head or neck

TunnusKui sageli seda täheldatakse
Development of small head that was not present at birthAlati
Abnormally small headSageli (30–79%)
Widely spaced teethSageli (30–79%)
Asymmetry of the posterior headMõnikord (5–29%)
Frontal bossingMõnikord (5–29%)
Little lower jawMõnikord (5–29%)
Low hanging columellaMõnikord (5–29%)
MonobrowMõnikord (5–29%)
Narrow foreheadMõnikord (5–29%)
Small head present at birthMõnikord (5–29%)
Sparse eyebrowMõnikord (5–29%)
Tongue twitchingMõnikord (5–29%)
Upward slanting of the opening between the eyelidsMõnikord (5–29%)

Abnormality of the musculoskeletal system

TunnusKui sageli seda täheldatakse
Lower limb spasticityAlati
Muscle weaknessAlati
Involuntary muscle stiffness, contraction, or spasmVäga sageli (80–99%)
Muscle degenerationVäga sageli (80–99%)
ScoliosisVäga sageli (80–99%)
Uncontrollable movement in upper armsVäga sageli (80–99%)
Decreased muscle tone in infantSageli (30–79%)
Low muscle toneSageli (30–79%)
Progressive spasticitySageli (30–79%)
Arthrogryposis multiplex congenitaMõnikord (5–29%)
Recurrent long bone fracturesMõnikord (5–29%)
Funnel chestHarva (1–4%)
Pigeon chestHarva (1–4%)

Abnormality of the eye

TunnusKui sageli seda täheldatakse
Absent smooth pursuitAlati
Optic atrophySageli (30–79%)
Cross-eyedMõnikord (5–29%)
Deeply set eyeMõnikord (5–29%)
Involuntary, rapid, rhythmic eye movementsMõnikord (5–29%)
Wide-set eyesMõnikord (5–29%)

Abnormality of the digestive system

TunnusKui sageli seda täheldatakse
ConstipationSageli (30–79%)
Feeding difficultiesSageli (30–79%)
Chronic constipationMõnikord (5–29%)
Loss of bowel controlMõnikord (5–29%)
Poor swallowingMõnikord (5–29%)

Abnormality of the genitourinary system

TunnusKui sageli seda täheldatakse
Retractile testisSageli (30–79%)
Loss of bladder controlMõnikord (5–29%)
Lack of bladder control due to nervous system injuryHarva (1–4%)

Abnormality of the respiratory system

TunnusKui sageli seda täheldatakse
Respiratory failureSageli (30–79%)
Respiratory function lossSageli (30–79%)
Respiratory failure requiring assisted ventilationMõnikord (5–29%)

Abnormality of limbs

TunnusKui sageli seda täheldatakse
Dislocated hip since birthHarva (1–4%)

Abnormality of prenatal development or birth

TunnusKui sageli seda täheldatakse
High levels of amniotic fluidMõnikord (5–29%)

Abnormality of the ear

TunnusKui sageli seda täheldatakse
Large earsHarva (1–4%)

Abnormality of the immune system

TunnusKui sageli seda täheldatakse
Recurrent pneumoniaHarva (1–4%)

Abnormality of the integument

TunnusKui sageli seda täheldatakse
Excessive hairinessHarva (1–4%)

Growth abnormality

TunnusKui sageli seda täheldatakse
Growth delayVäga sageli (80–99%)

Laboratory abnormality

TunnusKui sageli seda täheldatakse
Elevated blood creatine phosphokinaseSageli (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 TBCD seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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