Trăsături

Trăsături asociate cu CDH23

cadherin related 23

Human Phenotype Ontology asociază 149 trăsături cu CDH23, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the endocrine system

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

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormal electroretinogram	Foarte des (80–99%)
Blind spot	Foarte des (80–99%)
Difficulties with night vision	Foarte des (80–99%)
Rod-cone dystrophy	Foarte des (80–99%)
Visual loss	Foarte des (80–99%)
Clouding of the lens of the eye	Des (30–79%)
Decreased clarity of vision	Des (30–79%)
Loss of peripheral vision	Des (30–79%)
Progressive loss of vision	Des (30–79%)
Abnormal visual field test	Uneori (5–29%)
Bitemporal hemianopia	Uneori (5–29%)
Blindness	Uneori (5–29%)
Double vision	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Hemianopia	Uneori (5–29%)
Heteronymous hemianopia	Uneori (5–29%)
Internal ophthalmoplegia	Uneori (5–29%)
Oculomotor nerve palsy	Uneori (5–29%)
Sudden decrease in vision	Uneori (5–29%)
Optic nerve compression	Rar (1–4%)
Partial loss of field of vision	Rar (1–4%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormality of balance	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Can't control feelings	Des (30–79%)
Delayed speech and language development	Des (30–79%)
Headache	Des (30–79%)
Motor delay	Des (30–79%)
Tremor	Des (30–79%)
Abducens palsy	Uneori (5–29%)
Anxiety	Uneori (5–29%)
Cranial nerve paralysis	Uneori (5–29%)
Depression	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Fourth cranial nerve palsy	Uneori (5–29%)
Memory impairment	Uneori (5–29%)
Periodic hypokalemic paresis	Uneori (5–29%)
Psychotic episodes	Uneori (5–29%)
Suicidal ideation	Uneori (5–29%)
Dementia	Rar (1–4%)
Panic attack	Rar (1–4%)
Paranoia	Rar (1–4%)
Psychosis	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal absence of menstruation	Foarte des (80–99%)
Abnormal erection	Foarte des (80–99%)
Abnormality of the menstrual cycle	Foarte des (80–99%)
Decreased female sex drive	Foarte des (80–99%)
Decreased fertility in females	Foarte des (80–99%)
Decreased fertility in males	Foarte des (80–99%)
Difficulty getting a full erection	Foarte des (80–99%)
Menstrual irregularity	Foarte des (80–99%)
Dyspareunia	Des (30–79%)
Abnormal libido	Uneori (5–29%)
Infertility	Uneori (5–29%)
Light or infrequent menstrual periods	Uneori (5–29%)
Previous menstrual periods stop	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of the cardiovascular system	Des (30–79%)
Capillary fragility	Des (30–79%)
High blood pressure	Des (30–79%)
Low blood pressure	Des (30–79%)
Palpitations	Des (30–79%)
Cardiac failure	Uneori (5–29%)
Fluid around heart	Uneori (5–29%)
Heart attack	Uneori (5–29%)
Livedo reticularis	Uneori (5–29%)
Stroke	Uneori (5–29%)
Supraventricular arrhythmia	Uneori (5–29%)
Ventricular arrhythmia	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal hair quantity	Des (30–79%)
Buffalo hump	Des (30–79%)
Excessive hairiness	Des (30–79%)
Excessive sweating	Des (30–79%)
Paleness	Des (30–79%)
Patchy darkened skin	Des (30–79%)
Plethora	Des (30–79%)
Poor wound healing	Des (30–79%)
Stretch marks	Des (30–79%)
Thin skin	Des (30–79%)
Flushing	Uneori (5–29%)
Open skin sore	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Fatiguable weakness of proximal limb muscles	Des (30–79%)
Muscle weakness	Des (30–79%)
Osteopenia	Des (30–79%)
Osteoporosis	Des (30–79%)
Tired easily	Des (30–79%)
Wasting of muscles near the body	Des (30–79%)
Compression fracture of a vertebral body	Uneori (5–29%)
Death of bone due to decreased blood supply	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bruising susceptibility	Des (30–79%)
Decreased blood lymphocyte number	Des (30–79%)
Decreased total eosinophil count	Des (30–79%)
Elevated white blood count	Des (30–79%)
Blood spots	Uneori (5–29%)
Ecchymosis	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Prelingual sensorineural hearing impairment	Întotdeauna
Abnormal cochlea morphology	Foarte des (80–99%)
Sensorineural hearing impairment	Foarte des (80–99%)
Abnormal vestibular function	Des (30–79%)
Dizziness	Uneori (5–29%)
Hearing impairment	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Dark color of gums	Des (30–79%)
Moon face	Des (30–79%)
Big sella turcica	Uneori (5–29%)
Sparse scalp hair	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Abdominal obesity	Des (30–79%)
Increased body weight	Des (30–79%)
Truncal obesity	Des (30–79%)
Weight loss	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High urine cortisol level	Foarte des (80–99%)
Diabetes mellitus	Des (30–79%)
Impaired glucose tolerance	Des (30–79%)
Low blood potassium levels	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Acne	Des (30–79%)
Decreased immune function	Des (30–79%)
Recurrent cutaneous fungal infections	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Spontaneous milk flow from breast	Foarte des (80–99%)
Enlarged male breast	Des (30–79%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Nausea and vomiting	Des (30–79%)
Vomiting	Des (30–79%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Fluid accumulation in lower limbs	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality of the respiratory system	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu CDH23 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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