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Tunnused
Geeniga PEX2 seotud tunnused
peroxisomal biogenesis factor 2
Inimese fenotüübi ontoloogia seostab geeniga PEX2 155 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of the nervous system
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the palate | Väga sageli (80–99%) |
| Depressed nasal bridge | Väga sageli (80–99%) |
| Eye folds | Väga sageli (80–99%) |
| Flat face | Väga sageli (80–99%) |
| High forehead | Väga sageli (80–99%) |
| Long, narrow head | Väga sageli (80–99%) |
| Nasal tip, upturned | Väga sageli (80–99%) |
| Upward slanting of the opening between the eyelids | Väga sageli (80–99%) |
| Wide nasal bridge | 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%) |
| Flat back of skull | Sageli (30–79%) |
| Flattened bony protrusion above eyes | Sageli (30–79%) |
| High palate | Sageli (30–79%) |
| Little lower jaw | Sageli (30–79%) |
| Abnormality of the face | Mõnikord (5–29%) |
| Abnormality of the tongue | Mõnikord (5–29%) |
| Bell's palsy | Mõnikord (5–29%) |
| Persistent open anterior fontanelle | Mõnikord (5–29%) |
| Thickened skin folds of neck | Mõnikord (5–29%) |
| Cleft palate | Pole registreeritud |
| Fullness of eyelids | Pole registreeritud |
| Round face | Pole registreeritud |
| Wide fontanelles | Pole registreeritud |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Rod-cone dystrophy | 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%) |
| 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%) |
| Posterior embryotoxon | Sageli (30–79%) |
| Glaucoma | Mõnikord (5–29%) |
| Pendular nystagmus | Mõnikord (5–29%) |
| Speckled iris | Mõnikord (5–29%) |
| Breakdown of light-sensitive cells in back of eye | Pole registreeritud |
| Oculomotor apraxia | Pole registreeritud |
| Opacification of the corneal stroma | Pole registreeritud |
| Optic nerve dysplasia | Pole registreeritud |
| Pigmentary retinopathy | Pole registreeritud |
| Slow eye movements | Pole registreeritud |
| Wide-set eyes | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Double-Jointed | Alati |
| Abnormal skeletal development | Väga sageli (80–99%) |
| Low muscle tone | 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%) |
| Difficulty running | Pole registreeritud |
| Generalized decreased muscle tone | Pole registreeritud |
| Low muscle tone, in neonatal onset | Pole registreeritud |
| Permanent flexion of the finger or toe | Pole registreeritud |
| Stippled chondral calcification | Pole registreeritud |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the liver | Väga sageli (80–99%) |
| Enlarged liver | Väga sageli (80–99%) |
| Feeding difficulties in infancy | Väga sageli (80–99%) |
| Jaundice | Väga sageli (80–99%) |
| Liver failure | Väga sageli (80–99%) |
| Malabsorption | Sageli (30–79%) |
| Pyloric stenosis | Sageli (30–79%) |
| Poor suck | Mõnikord (5–29%) |
| Slowed or blocked flow of bile from liver | Mõnikord (5–29%) |
| Decreased liver function | Pole registreeritud |
| Intrahepatic biliary dysgenesis | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Tricuspid regurgitation | Sageli (30–79%) |
| Abnormal heart rate | Mõnikord (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Mõnikord (5–29%) |
| Aortic regurgitation | Mõnikord (5–29%) |
| Disease of the heart muscle | Mõnikord (5–29%) |
| Heart murmur | Mõnikord (5–29%) |
| Hole in heart wall separating two lower heart chambers | Mõnikord (5–29%) |
| Mitral regurgitation | Mõnikord (5–29%) |
| Enlarged liver and spleen | Pole registreeritud |
| Increased spleen size | Pole registreeritud |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Very long chain fatty acid accumulation | Alati |
| Elevated levels of phytanic acid | Väga sageli (80–99%) |
| Laboratory abnormality | Väga sageli (80–99%) |
| Elevated circulating alanine aminotransferase concentration | Sageli (30–79%) |
| Elevated circulating aspartate aminotransferase concentration | Sageli (30–79%) |
| Increased circulating very long-chain fatty acid concentration | Sageli (30–79%) |
| Conjugated hyperbilirubinemia | Mõnikord (5–29%) |
| Elevated alkaline phosphatase | Mõnikord (5–29%) |
| Elevated gamma-glutamyltransferase level | Mõnikord (5–29%) |
| Increased circulating lactate dehydrogenase concentration | Mõnikord (5–29%) |
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%) |
| Polycystic kidney dysplasia | Mõnikord (5–29%) |
| Cystic kidney disease | Pole registreeritud |
| Renal cortical microcysts | Pole registreeritud |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bilateral single transverse palmar creases | Sageli (30–79%) |
| High-arched foot | Mõnikord (5–29%) |
| Club feet | Pole registreeritud |
| Front half of foot turns inward | Pole registreeritud |
| Outward turned elbows | Pole registreeritud |
| Single transverse palmar crease | Pole registreeritud |
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%) |
| Abnormal helix morphology | Pole registreeritud |
| Low-set ears | Pole registreeritud |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Väga sageli (80–99%) |
| Short stature | Väga sageli (80–99%) |
| Small for gestational age | Mõnikord (5–29%) |
| Prenatal growth deficiency | Pole registreeritud |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Premature birth | Sageli (30–79%) |
| Fetal distress | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ichthyosis | Mõnikord (5–29%) |
| Small nail | Mõnikord (5–29%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of coagulation | Mõnikord (5–29%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Small nipples | Mõnikord (5–29%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Primary adrenal insufficiency | Väga sageli (80–99%) |
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 PEX2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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