Traits

Traits linked to CDKN1B

cyclin dependent kinase inhibitor 1B

The Human Phenotype Ontology links 97 traits to CDKN1B, by body system: features seen in people with one of the gene's rare conditions.

CDKN1B

Abnormality of the endocrine system

Trait	How often it is seen
Elevated blood parathyroid hormone level	Always
Hashimoto thyroiditis	Always
Pancreatic endocrine tumor	Always
Parathyroid adenoma	Always
Primary hyperparathyroidism	Always
Underactive thyroid	Always
Abnormality of the endocrine system	Very often (80–99%)
Enlarged parathyroid glands	Very often (80–99%)
Adrenocortical abnormality	Often (30–79%)
Adrenocortical adenoma	Often (30–79%)
Elevated gastrin in the blood	Often (30–79%)
Growth hormone excess	Often (30–79%)
Neuroendocrine neoplasm	Often (30–79%)
Noncancerous tumor in pituitary gland	Often (30–79%)
Pituitary growth hormone cell adenoma	Often (30–79%)
Pituitary null cell adenoma	Often (30–79%)
Pituitary prolactin cell adenoma	Often (30–79%)
Pulmonary carcinoid tumor	Often (30–79%)
Thyroid adenoma	Often (30–79%)
Abnormal circulating aldosterone	Sometimes (5–29%)
Adrenocortical carcinoma	Sometimes (5–29%)
Carcinoid tumor	Sometimes (5–29%)
Enlarged thyroid gland in neck	Sometimes (5–29%)
Increased circulating cortisol level	Sometimes (5–29%)
Increased glucagon level	Sometimes (5–29%)
Parathyroid carcinoma	Sometimes (5–29%)
Pituitary corticotropic cell adenoma	Sometimes (5–29%)
Primary hypercortisolism	Sometimes (5–29%)
Thyroid carcinoma	Sometimes (5–29%)
Glucagonoma	Rarely (1–4%)
Increased serum serotonin	Rarely (1–4%)
Pheochromocytoma	Rarely (1–4%)
Pituitary gonadotropic cell adenoma	Rarely (1–4%)
Pituitary thyrotropic cell adenoma	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Often (30–79%)
Abnormality of pancreas physiology	Often (30–79%)
Acid reflux	Often (30–79%)
Cancer of the pancreas	Often (30–79%)
Diarrhea	Often (30–79%)
Inflammation of the esophagus	Often (30–79%)
Insulinoma	Often (30–79%)
Intermittent abdominal pain	Often (30–79%)
Sore in the lining of gastrointestinal tract	Often (30–79%)
Zollinger-Ellison syndrome	Often (30–79%)
Anorexia	Sometimes (5–29%)
Constipation	Sometimes (5–29%)
Duodenal ulcer	Sometimes (5–29%)
Extrahepatic cholestasis	Sometimes (5–29%)
Intestinal carcinoid	Sometimes (5–29%)
Nausea	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Confusion	Sometimes (5–29%)
Cranial nerve compression	Sometimes (5–29%)
Decreased vigilance	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Lethargy	Sometimes (5–29%)
Noncancerous growth of membranes covering brain	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)
Atypical absence status epilepticus	Rarely (1–4%)
Coma	Rarely (1–4%)
Ependymoma	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating parathyroid hormone level	Very often (80–99%)
High blood calcium levels	Very often (80–99%)
Elevated urine calcium levels	Often (30–79%)
High blood insulin levels while fasting	Often (30–79%)
Hyperinsulinemic hypoglycemia	Often (30–79%)
Dehydration	Sometimes (5–29%)
High urine cortisol level	Sometimes (5–29%)
Elevated calcitonin	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Decreased male libido	Often (30–79%)
Difficulty getting a full erection	Often (30–79%)
Renal angiomyolipoma	Often (30–79%)
Abnormal absence of menstruation	Sometimes (5–29%)
Cervix cancer	Sometimes (5–29%)
Kidney stone	Sometimes (5–29%)
Testicular cancer	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Sometimes (5–29%)
Redness of skin or mucous membrane	Sometimes (5–29%)
Shortened QT interval	Sometimes (5–29%)
Thymoma	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low solidness and mass of the bones	Often (30–79%)
Multiple fatty lumps	Often (30–79%)
Breakdown of bone	Sometimes (5–29%)
Increased susceptibility to fractures	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Large cafe-au-lait macules with irregular margins	Often (30–79%)
Subcutaneous lipoma	Often (30–79%)
Confetti-like hypopigmented macules	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Angiofibromas	Very often (80–99%)
Carcinoma	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Black feces	Sometimes (5–29%)
Vomiting blood	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Weight loss	Often (30–79%)
Proportionate tall stature	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Gingival fibromatosis	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Spontaneous milk flow from breast	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Impairment of activities of daily living	Very often (80–99%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CDKN1B and how often each is seen. Find out more at hpo.jax.org.

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