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Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga COG1 seotud tunnused
component of oligomeric golgi complex 1
Inimese fenotüübi ontoloogia seostab geeniga COG1 89 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally small head | Alati |
| Little lower jaw | Alati |
| Short neck | Alati |
| Upward slanting of the opening between the eyelids | Alati |
| Abnormal facial shape | Sageli (30–79%) |
| Cleft palate | Sageli (30–79%) |
| Downward slanting of the opening between the eyelids | Sageli (30–79%) |
| Enlarged cisterna magna | Sageli (30–79%) |
| High palate | Sageli (30–79%) |
| Long philtrum | Sageli (30–79%) |
| Narrow mouth | Sageli (30–79%) |
| Pierre-Robin sequence | Sageli (30–79%) |
| Retraction of the tongue | Sageli (30–79%) |
| Small face | Sageli (30–79%) |
| Smooth philtrum | Sageli (30–79%) |
| Thin red part of the upper lip | Sageli (30–79%) |
| Wide nasal bridge | Sageli (30–79%) |
| Broad neck | Mõnikord (5–29%) |
| Progressively abnormally small cranium | Mõnikord (5–29%) |
| Midface retrusion | Pole registreeritud |
| Nasal tip, upturned | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low muscle tone | Alati |
| Rib fusion | Alati |
| Butterfly vertebrae | Sageli (30–79%) |
| Irregularity of vertebral bodies | Sageli (30–79%) |
| Kyphoscoliosis | Sageli (30–79%) |
| Osteopenia | Sageli (30–79%) |
| Permanent flexion of the finger or toe | Sageli (30–79%) |
| Posterior rib gap | Sageli (30–79%) |
| Short long bone | Sageli (30–79%) |
| Squared iliac bones | Sageli (30–79%) |
| Thoracic scoliosis | Sageli (30–79%) |
| Vertebral segmentation defect | Sageli (30–79%) |
| Generalized decreased muscle tone | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Degeneration of cerebellum | Alati |
| Degeneration of cerebrum | Alati |
| Global developmental delay | Alati |
| IQ between 34 and 49 | Alati |
| Brain degeneration | Sageli (30–79%) |
| Cerebellar vermis hypoplasia | Sageli (30–79%) |
| Delayed ability to walk | Sageli (30–79%) |
| Intellectual disability, mild | Sageli (30–79%) |
| Lateral ventricle dilatation | Sageli (30–79%) |
| Cerebellar dysplasia | Mõnikord (5–29%) |
| Mild global developmental delay | Mõnikord (5–29%) |
| Temporal cortical atrophy | Mõnikord (5–29%) |
| Delayed speech and language development | Pole registreeritud |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Small hand | Alati |
| Broad femoral neck | Sageli (30–79%) |
| Club feet | Sageli (30–79%) |
| Disproportionately short upper portion of limb | Sageli (30–79%) |
| Finger bends toward pinky | Sageli (30–79%) |
| Shallow acetabular fossae | Sageli (30–79%) |
| Single transverse palmar crease | Sageli (30–79%) |
| Small innermost thighbone end part | Sageli (30–79%) |
| Coxa valga | Mõnikord (5–29%) |
| Flat acetabular roof | Mõnikord (5–29%) |
| Short foot | Pole registreeritud |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ears rotated toward back of head | Alati |
| Low-set ears | Alati |
| Cholesteatoma | Sageli (30–79%) |
| Conductive deafness | Sageli (30–79%) |
| Narrow ear canal | Sageli (30–79%) |
| Small ears | Sageli (30–79%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hemolytic-uremic syndrome | Sageli (30–79%) |
| Hydronephrosis | Sageli (30–79%) |
| Hypospadias | Sageli (30–79%) |
| Renal failure | Sageli (30–79%) |
| Undescended testes | Sageli (30–79%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight in infancy | Alati |
| Faltering weight | Sageli (30–79%) |
| Growth delay as children | Sageli (30–79%) |
| Short stature | Sageli (30–79%) |
| Prenatal growth deficiency | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Left ventricular hypertrophy | Alati |
| Atrial septal dilatation | Sageli (30–79%) |
| Increased blood pressure in blood vessels of lungs | Sageli (30–79%) |
| Enlarged liver and spleen | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal macular morphology | Sageli (30–79%) |
| Bulging eye | Sageli (30–79%) |
| Esodeviation | Sageli (30–79%) |
| Wide-set eyes | Sageli (30–79%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Giant platelets | Sageli (30–79%) |
| Low platelet count | Sageli (30–79%) |
| Low number of red blood cells or hemoglobin | Pole registreeritud |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wide-spaced nipples | Sageli (30–79%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Feeding difficulties in infancy | Alati |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Recurrent infections | Pole registreeritud |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Type II transferrin isoform profile | Alati |
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 COG1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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