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Tunnused
Geeniga CDH23 seotud tunnused
cadherin related 23
Inimese fenotüübi ontoloogia seostab geeniga CDH23 149 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Logi sisseKüsiSekveneeri oma genoom↗
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Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of the endocrine system
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal electroretinogram | Väga sageli (80–99%) |
| Blind spot | Väga sageli (80–99%) |
| Difficulties with night vision | Väga sageli (80–99%) |
| Rod-cone dystrophy | Väga sageli (80–99%) |
| Visual loss | Väga sageli (80–99%) |
| Clouding of the lens of the eye | Sageli (30–79%) |
| Decreased clarity of vision | Sageli (30–79%) |
| Loss of peripheral vision | Sageli (30–79%) |
| Progressive loss of vision | Sageli (30–79%) |
| Abnormal visual field test | Mõnikord (5–29%) |
| Bitemporal hemianopia | Mõnikord (5–29%) |
| Blindness | Mõnikord (5–29%) |
| Double vision | Mõnikord (5–29%) |
| Drooping upper eyelid | Mõnikord (5–29%) |
| Hemianopia | Mõnikord (5–29%) |
| Heteronymous hemianopia | Mõnikord (5–29%) |
| Internal ophthalmoplegia | Mõnikord (5–29%) |
| Oculomotor nerve palsy | Mõnikord (5–29%) |
| Sudden decrease in vision | Mõnikord (5–29%) |
| Optic nerve compression | Harva (1–4%) |
| Partial loss of field of vision | Harva (1–4%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of balance | Sageli (30–79%) |
| Behavioral abnormality | Sageli (30–79%) |
| Can't control feelings | Sageli (30–79%) |
| Delayed speech and language development | Sageli (30–79%) |
| Headache | Sageli (30–79%) |
| Motor delay | Sageli (30–79%) |
| Tremor | Sageli (30–79%) |
| Abducens palsy | Mõnikord (5–29%) |
| Anxiety | Mõnikord (5–29%) |
| Cranial nerve paralysis | Mõnikord (5–29%) |
| Depression | Mõnikord (5–29%) |
| Epilepsy | Mõnikord (5–29%) |
| Fourth cranial nerve palsy | Mõnikord (5–29%) |
| Memory impairment | Mõnikord (5–29%) |
| Periodic hypokalemic paresis | Mõnikord (5–29%) |
| Psychotic episodes | Mõnikord (5–29%) |
| Suicidal ideation | Mõnikord (5–29%) |
| Dementia | Harva (1–4%) |
| Panic attack | Harva (1–4%) |
| Paranoia | Harva (1–4%) |
| Psychosis | Harva (1–4%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal absence of menstruation | Väga sageli (80–99%) |
| Abnormal erection | Väga sageli (80–99%) |
| Abnormality of the menstrual cycle | Väga sageli (80–99%) |
| Decreased female sex drive | Väga sageli (80–99%) |
| Decreased fertility in females | Väga sageli (80–99%) |
| Decreased fertility in males | Väga sageli (80–99%) |
| Difficulty getting a full erection | Väga sageli (80–99%) |
| Menstrual irregularity | Väga sageli (80–99%) |
| Dyspareunia | Sageli (30–79%) |
| Abnormal libido | Mõnikord (5–29%) |
| Infertility | Mõnikord (5–29%) |
| Light or infrequent menstrual periods | Mõnikord (5–29%) |
| Previous menstrual periods stop | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the cardiovascular system | Sageli (30–79%) |
| Capillary fragility | Sageli (30–79%) |
| High blood pressure | Sageli (30–79%) |
| Low blood pressure | Sageli (30–79%) |
| Palpitations | Sageli (30–79%) |
| Cardiac failure | Mõnikord (5–29%) |
| Fluid around heart | Mõnikord (5–29%) |
| Heart attack | Mõnikord (5–29%) |
| Livedo reticularis | Mõnikord (5–29%) |
| Stroke | Mõnikord (5–29%) |
| Supraventricular arrhythmia | Mõnikord (5–29%) |
| Ventricular arrhythmia | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal hair quantity | Sageli (30–79%) |
| Buffalo hump | Sageli (30–79%) |
| Excessive hairiness | Sageli (30–79%) |
| Excessive sweating | Sageli (30–79%) |
| Paleness | Sageli (30–79%) |
| Patchy darkened skin | Sageli (30–79%) |
| Plethora | Sageli (30–79%) |
| Poor wound healing | Sageli (30–79%) |
| Stretch marks | Sageli (30–79%) |
| Thin skin | Sageli (30–79%) |
| Flushing | Mõnikord (5–29%) |
| Open skin sore | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Fatiguable weakness of proximal limb muscles | Sageli (30–79%) |
| Muscle weakness | Sageli (30–79%) |
| Osteopenia | Sageli (30–79%) |
| Osteoporosis | Sageli (30–79%) |
| Tired easily | Sageli (30–79%) |
| Wasting of muscles near the body | Sageli (30–79%) |
| Compression fracture of a vertebral body | Mõnikord (5–29%) |
| Death of bone due to decreased blood supply | Harva (1–4%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bruising susceptibility | Sageli (30–79%) |
| Decreased blood lymphocyte number | Sageli (30–79%) |
| Decreased total eosinophil count | Sageli (30–79%) |
| Elevated white blood count | Sageli (30–79%) |
| Blood spots | Mõnikord (5–29%) |
| Ecchymosis | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Prelingual sensorineural hearing impairment | Alati |
| Abnormal cochlea morphology | Väga sageli (80–99%) |
| Sensorineural hearing impairment | Väga sageli (80–99%) |
| Abnormal vestibular function | Sageli (30–79%) |
| Dizziness | Mõnikord (5–29%) |
| Hearing impairment | Pole registreeritud |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Dark color of gums | Sageli (30–79%) |
| Moon face | Sageli (30–79%) |
| Big sella turcica | Mõnikord (5–29%) |
| Sparse scalp hair | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abdominal obesity | Sageli (30–79%) |
| Increased body weight | Sageli (30–79%) |
| Truncal obesity | Sageli (30–79%) |
| Weight loss | Sageli (30–79%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High urine cortisol level | Väga sageli (80–99%) |
| Diabetes mellitus | Sageli (30–79%) |
| Impaired glucose tolerance | Sageli (30–79%) |
| Low blood potassium levels | Mõnikord (5–29%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Acne | Sageli (30–79%) |
| Decreased immune function | Sageli (30–79%) |
| Recurrent cutaneous fungal infections | Mõnikord (5–29%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Spontaneous milk flow from breast | Väga sageli (80–99%) |
| Enlarged male breast | Sageli (30–79%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Nausea and vomiting | Sageli (30–79%) |
| Vomiting | Sageli (30–79%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Fluid accumulation in lower limbs | Harva (1–4%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the respiratory system | Mõnikord (5–29%) |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Fatigue | Sageli (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 CDH23 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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