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Tunnused
Geeniga PEX14 seotud tunnused
peroxisomal biogenesis factor 14
Inimese fenotüübi ontoloogia seostab geeniga PEX14 101 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Depressed nasal bridge | Alati |
| Flat back of skull | Alati |
| High forehead | Alati |
| Little lower jaw | Alati |
| Long, narrow head | Alati |
| Triangular face | Alati |
| Wide fontanelles | Alati |
| Wide nasal bridge | Alati |
| Abnormality of the palate | Väga sageli (80–99%) |
| Eye folds | Väga sageli (80–99%) |
| Flat face | Väga sageli (80–99%) |
| Nasal tip, upturned | Väga sageli (80–99%) |
| Upward slanting of the opening between the eyelids | Väga sageli (80–99%) |
| Wider-than-typical soft spot of skull | Väga sageli (80–99%) |
| Abnormally small head | Sageli (30–79%) |
| Big calvaria | Sageli (30–79%) |
| Flattened bony protrusion above eyes | Sageli (30–79%) |
| High palate | Sageli (30–79%) |
| Abnormality of the face | Mõnikord (5–29%) |
| Abnormality of the tongue | Mõnikord (5–29%) |
| Bell's palsy | Mõnikord (5–29%) |
| Thickened skin folds of neck | Mõnikord (5–29%) |
| Delayed closure of the soft spot on the skull | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent reflexes | Alati |
| Epilepsy | Alati |
| Gray matter heterotopia | Alati |
| More grooves in brain | Alati |
| Abnormality of movement | Väga sageli (80–99%) |
| Cognitive impairment | Väga sageli (80–99%) |
| Diminished deep tendon reflex | Väga sageli (80–99%) |
| EEG abnormality | Väga sageli (80–99%) |
| Global developmental delay | Väga sageli (80–99%) |
| Increased reflexes | Väga sageli (80–99%) |
| Loss of developmental milestones | Väga sageli (80–99%) |
| Profound global developmental delay | Väga sageli (80–99%) |
| Severe global developmental delay | Väga sageli (80–99%) |
| Abnormality of neuronal migration | Sageli (30–79%) |
| Ataxia | Sageli (30–79%) |
| Behavioral abnormality | Sageli (30–79%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Posterior embryotoxon | Alati |
| Corneal opacity | Väga sageli (80–99%) |
| Cross-eyed | Väga sageli (80–99%) |
| Difficulties with night vision | Väga sageli (80–99%) |
| Involuntary, rapid, rhythmic eye movements | Väga sageli (80–99%) |
| Limited peripheral vision | Väga sageli (80–99%) |
| Optic atrophy | Väga sageli (80–99%) |
| Rod-cone dystrophy | Väga sageli (80–99%) |
| Visual impairment | Väga sageli (80–99%) |
| Abnormal chorioretinal morphology | Sageli (30–79%) |
| Abnormal retinal pigmentation | Sageli (30–79%) |
| Clouding of the lens of the eye | Sageli (30–79%) |
| Drooping upper eyelid | Sageli (30–79%) |
| Glaucoma | Mõnikord (5–29%) |
| Speckled iris | Mõnikord (5–29%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Enlarged liver | Alati |
| Feeding difficulties | Alati |
| Impaired release of bile from liver | Alati |
| Jaundice | Alati |
| Reduced number of intrahepatic bile ducts | Alati |
| Abnormality of the liver | Väga sageli (80–99%) |
| Feeding difficulties in infancy | Väga sageli (80–99%) |
| Liver failure | Väga sageli (80–99%) |
| Malabsorption | Sageli (30–79%) |
| Pyloric stenosis | Sageli (30–79%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Generalized decreased muscle tone | Alati |
| Low muscle tone | Alati |
| Low muscle tone in trunk | Alati |
| Abnormal skeletal development | Väga sageli (80–99%) |
| Progressive muscle weakness | Väga sageli (80–99%) |
| Severely decreased muscle tone | Väga sageli (80–99%) |
| Speckled calcifications in end part of bone | Väga sageli (80–99%) |
| Involuntary muscle stiffness, contraction, or spasm | Sageli (30–79%) |
| Abnormal shape of end part of bone | Mõnikord (5–29%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Conjugated hyperbilirubinemia | Alati |
| Elevated circulating alanine aminotransferase concentration | Alati |
| Elevated circulating aspartate aminotransferase concentration | Alati |
| Elevated urinary dicarboxylic acid level | Alati |
| Increased circulating very long-chain fatty acid concentration | Alati |
| Elevated levels of phytanic acid | Väga sageli (80–99%) |
| Laboratory abnormality | Väga sageli (80–99%) |
| Very long chain fatty acid accumulation | Väga sageli (80–99%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Enlarged clitoris | Sageli (30–79%) |
| Hydronephrosis | Sageli (30–79%) |
| Hypospadias | Sageli (30–79%) |
| Multicystic kidney dysplasia | Sageli (30–79%) |
| Undescended testes | Sageli (30–79%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally shaped ears | Väga sageli (80–99%) |
| Ears rotated toward back of head | Väga sageli (80–99%) |
| Sensorineural hearing impairment | Väga sageli (80–99%) |
| Hearing impairment | Sageli (30–79%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal heart rate | Mõnikord (5–29%) |
| Disease of the heart muscle | Mõnikord (5–29%) |
| Hole in heart wall separating two lower heart chambers | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Väga sageli (80–99%) |
| Short stature | Väga sageli (80–99%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of coagulation | Mõnikord (5–29%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bilateral single transverse palmar creases | Sageli (30–79%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Premature birth | Sageli (30–79%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Primary adrenal insufficiency | Väga sageli (80–99%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ichthyosis | Mõnikord (5–29%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Respiratory function loss | Väga sageli (80–99%) |
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 PEX14 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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