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Tunnused
Geeniga CEP120 seotud tunnused
centrosomal protein 120
Inimese fenotüübi ontoloogia seostab geeniga CEP120 114 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abi osutameMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bumpy tongue | Sageli (30–79%) |
| Dandy-Walker malformation | Sageli (30–79%) |
| Decreased width of the skull | Sageli (30–79%) |
| Hamartoma of tongue | Sageli (30–79%) |
| Incomplete cleft of the upper lip | Sageli (30–79%) |
| Long face | Sageli (30–79%) |
| Relatively large head | Sageli (30–79%) |
| Sparse eyebrow | Sageli (30–79%) |
| Cleft of the mouth | Mõnikord (5–29%) |
| Cleft palate | Mõnikord (5–29%) |
| Encephalocele | Mõnikord (5–29%) |
| Highly arched eyebrow | Mõnikord (5–29%) |
| Nasal tip, upturned | Mõnikord (5–29%) |
| Prominent nasal bridge | Mõnikord (5–29%) |
| Born with teeth | Pole registreeritud |
| Cleft lip | Pole registreeritud |
| Cleft tongue | Pole registreeritud |
| Coarse facial features | Pole registreeritud |
| Decreased size of facial bones | Pole registreeritud |
| Midface retrusion | Pole registreeritud |
| Prominent nose | Pole registreeritud |
| Small retruded chin | Pole registreeritud |
| Unicoronal synostosis | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Horizontal ribs | Alati |
| Low muscle tone | Alati |
| Narrow chest | Alati |
| Short long bone | Alati |
| Short ribs | Alati |
| Abnormal shape of pelvic girdle bone | Väga sageli (80–99%) |
| Abnormal skeletal development | Väga sageli (80–99%) |
| Abnormality of the ribs | Väga sageli (80–99%) |
| Shorter than typical length between neck and abdomen | Väga sageli (80–99%) |
| Abnormal collarbone | Sageli (30–79%) |
| Abnormality of the sternum | Sageli (30–79%) |
| Cone-shaped end part of bone | Sageli (30–79%) |
| Hypoplastic pelvis | Sageli (30–79%) |
| Narrow greater sciatic notch | Sageli (30–79%) |
| Abnormal vertebral body morphology | Mõnikord (5–29%) |
| Abnormal vertebral morphology | Mõnikord (5–29%) |
| Scoliosis | Mõnikord (5–29%) |
| Bell-shaped thorax | Pole registreeritud |
| Squared iliac bones | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Global developmental delay | Alati |
| Molar tooth sign on MRI | Alati |
| Ataxia | Väga sageli (80–99%) |
| Cerebellar vermis hypoplasia | Väga sageli (80–99%) |
| Intellectual disability | Väga sageli (80–99%) |
| Abnormal gait | Sageli (30–79%) |
| Instability or lack of coordination of central trunk muscles | Sageli (30–79%) |
| Small cerebellum | Sageli (30–79%) |
| Abnormality of neuronal migration | Mõnikord (5–29%) |
| Agenesis of corpus callosum | Mõnikord (5–29%) |
| Aplasia/Hypoplasia of the corpus callosum | Mõnikord (5–29%) |
| Epilepsy | Mõnikord (5–29%) |
| More grooves in brain | Mõnikord (5–29%) |
| Too much cerebrospinal fluid in the brain | Mõnikord (5–29%) |
| Tremor | Mõnikord (5–29%) |
| Underdevelopment of part of brain called corpus callosum | Mõnikord (5–29%) |
| Ventriculomegaly | Mõnikord (5–29%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Preaxial polydactyly | Alati |
| Smaller or shorter than typical limbs | Väga sageli (80–99%) |
| Abnormality of the wide portion of a long bone | Sageli (30–79%) |
| Short calf bone | Sageli (30–79%) |
| Short fingers or toes | Sageli (30–79%) |
| Short foot | Sageli (30–79%) |
| Short shinbone | Sageli (30–79%) |
| Duplication of bones of the toes | Mõnikord (5–29%) |
| Extra finger | Mõnikord (5–29%) |
| Extra little finger | Mõnikord (5–29%) |
| Extra toe attached near the little toe | Mõnikord (5–29%) |
| Fused toes | Mõnikord (5–29%) |
| Disproportionately short upper portion of limb | Pole registreeritud |
| Flat acetabular roof | Pole registreeritud |
| Postaxial polydactyly | Pole registreeritud |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Breakdown of light-sensitive cells in back of eye | Väga sageli (80–99%) |
| Oculomotor apraxia | Väga sageli (80–99%) |
| Involuntary, rapid, rhythmic eye movements | Sageli (30–79%) |
| Wide-set eyes | Sageli (30–79%) |
| Abnormal retinal pigmentation | Mõnikord (5–29%) |
| Cat eye | Mõnikord (5–29%) |
| Cross-eyed | Mõnikord (5–29%) |
| Drooping upper eyelid | Mõnikord (5–29%) |
| Duane anomaly | Mõnikord (5–29%) |
| Hole in the back of the eye | Mõnikord (5–29%) |
| Visual loss | Mõnikord (5–29%) |
| Abnormally small eyeball | Pole registreeritud |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Kidney damage | Mõnikord (5–29%) |
| Nephronophthisis | Mõnikord (5–29%) |
| Renal failure | Mõnikord (5–29%) |
| Ambiguous external genitalia | Pole registreeritud |
| Cystic kidney disease | Pole registreeritud |
| Small kidneys | Pole registreeritud |
| Undescended testes | Pole registreeritud |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Feeding difficulties | Sageli (30–79%) |
| Feeding difficulties in infancy | Sageli (30–79%) |
| Omphalocele | Sageli (30–79%) |
| Abnormality of the liver | Mõnikord (5–29%) |
| Enlarged colon lacking nerve cells | Mõnikord (5–29%) |
| Absent anus | Pole registreeritud |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal pattern of respiration | Väga sageli (80–99%) |
| Apnea | Väga sageli (80–99%) |
| Episodic tachypnea | Väga sageli (80–99%) |
| Respiratory function loss | Sageli (30–79%) |
| Absent/small lungs | Mõnikord (5–29%) |
| Poorly developed lungs | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal cardiovascular system morphology | Mõnikord (5–29%) |
| All organs on wrong side of body | Mõnikord (5–29%) |
| Heart tip and four chambers point towards right side of body | Mõnikord (5–29%) |
| Patent ductus arteriosus | Pole registreeritud |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ears rotated toward back of head | Mõnikord (5–29%) |
| Low-set ears | Mõnikord (5–29%) |
| Large ears | Pole registreeritud |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Short stature | 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 CEP120 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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