Požymiai

Su CDH23 susiję požymiai

cadherin related 23

Žmogaus fenotipo ontologija sieja 149 požymių su CDH23, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Abnormal pituitary gland morphology	Labai dažnai (80–99%)
Decreased activity of gonads	Labai dažnai (80–99%)
Decreased function of male gonad	Labai dažnai (80–99%)
Elevated circulating thyroid-stimulating hormone concentration	Labai dažnai (80–99%)
Enlarged pituitary gland	Labai dažnai (80–99%)
Enlarged thyroid gland in neck	Labai dažnai (80–99%)
Female hypogonadism	Labai dažnai (80–99%)
Hypogonadotropic hypogonadism	Labai dažnai (80–99%)
Increased circulating cortisol level	Labai dažnai (80–99%)
Overactive thyroid	Labai dažnai (80–99%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Labai dažnai (80–99%)
Pituitary corticotropic cell adenoma	Labai dažnai (80–99%)
Adrenocorticotropic hormone deficiency	Dažnai (30–79%)
Adrenocorticotropin deficient adrenal insufficiency	Dažnai (30–79%)
Central adrenal insufficiency	Dažnai (30–79%)
Decreased circulating ACTH concentration	Dažnai (30–79%)
Enlarged adrenal glands	Dažnai (30–79%)
Increased circulating ACTH level	Dažnai (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Dažnai (30–79%)
Secondary growth hormone deficiency	Dažnai (30–79%)
Thyroid crisis	Dažnai (30–79%)
Anterior hypopituitarism	Kartais (5–29%)
Delayed puberty	Kartais (5–29%)
Euthyroid hyperthyroxinemia	Kartais (5–29%)
Growth hormone excess	Kartais (5–29%)
Increased circulating gonadotropin level	Kartais (5–29%)
Increased circulating prolactin concentration	Kartais (5–29%)
Noncancerous tumor in pituitary gland	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormal electroretinogram	Labai dažnai (80–99%)
Blind spot	Labai dažnai (80–99%)
Difficulties with night vision	Labai dažnai (80–99%)
Rod-cone dystrophy	Labai dažnai (80–99%)
Visual loss	Labai dažnai (80–99%)
Clouding of the lens of the eye	Dažnai (30–79%)
Decreased clarity of vision	Dažnai (30–79%)
Loss of peripheral vision	Dažnai (30–79%)
Progressive loss of vision	Dažnai (30–79%)
Abnormal visual field test	Kartais (5–29%)
Bitemporal hemianopia	Kartais (5–29%)
Blindness	Kartais (5–29%)
Double vision	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Hemianopia	Kartais (5–29%)
Heteronymous hemianopia	Kartais (5–29%)
Internal ophthalmoplegia	Kartais (5–29%)
Oculomotor nerve palsy	Kartais (5–29%)
Sudden decrease in vision	Kartais (5–29%)
Optic nerve compression	Retai (1–4 %)
Partial loss of field of vision	Retai (1–4 %)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormality of balance	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Can't control feelings	Dažnai (30–79%)
Delayed speech and language development	Dažnai (30–79%)
Headache	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Tremor	Dažnai (30–79%)
Abducens palsy	Kartais (5–29%)
Anxiety	Kartais (5–29%)
Cranial nerve paralysis	Kartais (5–29%)
Depression	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Fourth cranial nerve palsy	Kartais (5–29%)
Memory impairment	Kartais (5–29%)
Periodic hypokalemic paresis	Kartais (5–29%)
Psychotic episodes	Kartais (5–29%)
Suicidal ideation	Kartais (5–29%)
Dementia	Retai (1–4 %)
Panic attack	Retai (1–4 %)
Paranoia	Retai (1–4 %)
Psychosis	Retai (1–4 %)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal absence of menstruation	Labai dažnai (80–99%)
Abnormal erection	Labai dažnai (80–99%)
Abnormality of the menstrual cycle	Labai dažnai (80–99%)
Decreased female sex drive	Labai dažnai (80–99%)
Decreased fertility in females	Labai dažnai (80–99%)
Decreased fertility in males	Labai dažnai (80–99%)
Difficulty getting a full erection	Labai dažnai (80–99%)
Menstrual irregularity	Labai dažnai (80–99%)
Dyspareunia	Dažnai (30–79%)
Abnormal libido	Kartais (5–29%)
Infertility	Kartais (5–29%)
Light or infrequent menstrual periods	Kartais (5–29%)
Previous menstrual periods stop	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormality of the cardiovascular system	Dažnai (30–79%)
Capillary fragility	Dažnai (30–79%)
High blood pressure	Dažnai (30–79%)
Low blood pressure	Dažnai (30–79%)
Palpitations	Dažnai (30–79%)
Cardiac failure	Kartais (5–29%)
Fluid around heart	Kartais (5–29%)
Heart attack	Kartais (5–29%)
Livedo reticularis	Kartais (5–29%)
Stroke	Kartais (5–29%)
Supraventricular arrhythmia	Kartais (5–29%)
Ventricular arrhythmia	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormal hair quantity	Dažnai (30–79%)
Buffalo hump	Dažnai (30–79%)
Excessive hairiness	Dažnai (30–79%)
Excessive sweating	Dažnai (30–79%)
Paleness	Dažnai (30–79%)
Patchy darkened skin	Dažnai (30–79%)
Plethora	Dažnai (30–79%)
Poor wound healing	Dažnai (30–79%)
Stretch marks	Dažnai (30–79%)
Thin skin	Dažnai (30–79%)
Flushing	Kartais (5–29%)
Open skin sore	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Fatiguable weakness of proximal limb muscles	Dažnai (30–79%)
Muscle weakness	Dažnai (30–79%)
Osteopenia	Dažnai (30–79%)
Osteoporosis	Dažnai (30–79%)
Tired easily	Dažnai (30–79%)
Wasting of muscles near the body	Dažnai (30–79%)
Compression fracture of a vertebral body	Kartais (5–29%)
Death of bone due to decreased blood supply	Retai (1–4 %)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bruising susceptibility	Dažnai (30–79%)
Decreased blood lymphocyte number	Dažnai (30–79%)
Decreased total eosinophil count	Dažnai (30–79%)
Elevated white blood count	Dažnai (30–79%)
Blood spots	Kartais (5–29%)
Ecchymosis	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Prelingual sensorineural hearing impairment	Visada
Abnormal cochlea morphology	Labai dažnai (80–99%)
Sensorineural hearing impairment	Labai dažnai (80–99%)
Abnormal vestibular function	Dažnai (30–79%)
Dizziness	Kartais (5–29%)
Hearing impairment	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Dark color of gums	Dažnai (30–79%)
Moon face	Dažnai (30–79%)
Big sella turcica	Kartais (5–29%)
Sparse scalp hair	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Abdominal obesity	Dažnai (30–79%)
Increased body weight	Dažnai (30–79%)
Truncal obesity	Dažnai (30–79%)
Weight loss	Dažnai (30–79%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High urine cortisol level	Labai dažnai (80–99%)
Diabetes mellitus	Dažnai (30–79%)
Impaired glucose tolerance	Dažnai (30–79%)
Low blood potassium levels	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Acne	Dažnai (30–79%)
Decreased immune function	Dažnai (30–79%)
Recurrent cutaneous fungal infections	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Spontaneous milk flow from breast	Labai dažnai (80–99%)
Enlarged male breast	Dažnai (30–79%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Nausea and vomiting	Dažnai (30–79%)
Vomiting	Dažnai (30–79%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Fluid accumulation in lower limbs	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormality of the respiratory system	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su CDH23 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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