Trăsături

Trăsături asociate cu CDKN1B

cyclin dependent kinase inhibitor 1B

Human Phenotype Ontology asociază 97 trăsături cu CDKN1B, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

CDKN1B

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Elevated blood parathyroid hormone level	Întotdeauna
Hashimoto thyroiditis	Întotdeauna
Pancreatic endocrine tumor	Întotdeauna
Parathyroid adenoma	Întotdeauna
Primary hyperparathyroidism	Întotdeauna
Underactive thyroid	Întotdeauna
Abnormality of the endocrine system	Foarte des (80–99%)
Enlarged parathyroid glands	Foarte des (80–99%)
Adrenocortical abnormality	Des (30–79%)
Adrenocortical adenoma	Des (30–79%)
Elevated gastrin in the blood	Des (30–79%)
Growth hormone excess	Des (30–79%)
Neuroendocrine neoplasm	Des (30–79%)
Noncancerous tumor in pituitary gland	Des (30–79%)
Pituitary growth hormone cell adenoma	Des (30–79%)
Pituitary null cell adenoma	Des (30–79%)
Pituitary prolactin cell adenoma	Des (30–79%)
Pulmonary carcinoid tumor	Des (30–79%)
Thyroid adenoma	Des (30–79%)
Abnormal circulating aldosterone	Uneori (5–29%)
Adrenocortical carcinoma	Uneori (5–29%)
Carcinoid tumor	Uneori (5–29%)
Enlarged thyroid gland in neck	Uneori (5–29%)
Increased circulating cortisol level	Uneori (5–29%)
Increased glucagon level	Uneori (5–29%)
Parathyroid carcinoma	Uneori (5–29%)
Pituitary corticotropic cell adenoma	Uneori (5–29%)
Primary hypercortisolism	Uneori (5–29%)
Thyroid carcinoma	Uneori (5–29%)
Glucagonoma	Rar (1–4%)
Increased serum serotonin	Rar (1–4%)
Pheochromocytoma	Rar (1–4%)
Pituitary gonadotropic cell adenoma	Rar (1–4%)
Pituitary thyrotropic cell adenoma	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abdominal pain	Des (30–79%)
Abnormality of pancreas physiology	Des (30–79%)
Acid reflux	Des (30–79%)
Cancer of the pancreas	Des (30–79%)
Diarrhea	Des (30–79%)
Inflammation of the esophagus	Des (30–79%)
Insulinoma	Des (30–79%)
Intermittent abdominal pain	Des (30–79%)
Sore in the lining of gastrointestinal tract	Des (30–79%)
Zollinger-Ellison syndrome	Des (30–79%)
Anorexia	Uneori (5–29%)
Constipation	Uneori (5–29%)
Duodenal ulcer	Uneori (5–29%)
Extrahepatic cholestasis	Uneori (5–29%)
Intestinal carcinoid	Uneori (5–29%)
Nausea	Uneori (5–29%)
Vomiting	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Confusion	Uneori (5–29%)
Cranial nerve compression	Uneori (5–29%)
Decreased vigilance	Uneori (5–29%)
Depression	Uneori (5–29%)
Headache	Uneori (5–29%)
Lethargy	Uneori (5–29%)
Noncancerous growth of membranes covering brain	Uneori (5–29%)
Short attention span	Uneori (5–29%)
Atypical absence status epilepticus	Rar (1–4%)
Coma	Rar (1–4%)
Ependymoma	Rar (1–4%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated circulating parathyroid hormone level	Foarte des (80–99%)
High blood calcium levels	Foarte des (80–99%)
Elevated urine calcium levels	Des (30–79%)
High blood insulin levels while fasting	Des (30–79%)
Hyperinsulinemic hypoglycemia	Des (30–79%)
Dehydration	Uneori (5–29%)
High urine cortisol level	Uneori (5–29%)
Elevated calcitonin	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Decreased male libido	Des (30–79%)
Difficulty getting a full erection	Des (30–79%)
Renal angiomyolipoma	Des (30–79%)
Abnormal absence of menstruation	Uneori (5–29%)
Cervix cancer	Uneori (5–29%)
Kidney stone	Uneori (5–29%)
Testicular cancer	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
High blood pressure	Uneori (5–29%)
Redness of skin or mucous membrane	Uneori (5–29%)
Shortened QT interval	Uneori (5–29%)
Thymoma	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low solidness and mass of the bones	Des (30–79%)
Multiple fatty lumps	Des (30–79%)
Breakdown of bone	Uneori (5–29%)
Increased susceptibility to fractures	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Large cafe-au-lait macules with irregular margins	Des (30–79%)
Subcutaneous lipoma	Des (30–79%)
Confetti-like hypopigmented macules	Uneori (5–29%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Angiofibromas	Foarte des (80–99%)
Carcinoma	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Black feces	Uneori (5–29%)
Vomiting blood	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Weight loss	Des (30–79%)
Proportionate tall stature	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Gingival fibromatosis	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Spontaneous milk flow from breast	Des (30–79%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Impairment of activities of daily living	Foarte des (80–99%)

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 CDKN1B și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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