Traits

Traits linked to MDM2

MDM2 proto-oncogene

The Human Phenotype Ontology links 48 traits to MDM2, by body system: features seen in people with one of the gene's rare conditions.

MDM2

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Blood cancer	Sometimes (5–29%)
Cancer of lymphatic system	Sometimes (5–29%)
Acute lymphoblastic leukemia	Rarely (1–4%)
Acute myeloid leukemia	Rarely (1–4%)
Hodgkin lymphoma	Rarely (1–4%)
Myelodysplasia	Rarely (1–4%)
Non-Hodgkin lymphoma	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Colorectal polyposis	Sometimes (5–29%)
Gastrointestinal dysmotility	Sometimes (5–29%)
Gastrointestinal tract tumor	Sometimes (5–29%)
Stomach cancer	Sometimes (5–29%)
Cancer of the pancreas	Rarely (1–4%)
Colon cancer	Rarely (1–4%)
Rectal tumor	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Renal failure	Always
Small kidneys	Always
Abnormal kidney function	Sometimes (5–29%)
Kidney cancer	Rarely (1–4%)
Ovarian cancer	Rarely (1–4%)
Prostate cancer	Rarely (1–4%)
Testicular cancer	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
High pitched voice	Always
Astrocytoma	Sometimes (5–29%)
Choroid plexus carcinoma	Sometimes (5–29%)
Ependymoma	Sometimes (5–29%)
Glioblastoma multiforme	Sometimes (5–29%)
Tumors of the central nervous system	Sometimes (5–29%)
Medulloblastoma	Rarely (1–4%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Very often (80–99%)
Central primitive neuroectodermal tumor	Sometimes (5–29%)
Cancer of skin pigment cells	Rarely (1–4%)
Head and neck tumor	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Always
Adrenocortical carcinoma	Sometimes (5–29%)
Thyroid carcinoma	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Premature graying of hair	Always
Sparse pubic hair	Always
Firm lump under the skin	Very often (80–99%)

Abnormality of head or neck

Trait	How often it is seen
Narrow mouth	Always
Narrow nasal bridge	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bone cell cancer	Sometimes (5–29%)
Rhabdomyosarcoma	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Lung cancer	Rarely (1–4%)
Neoplasm of the larynx	Rarely (1–4%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Choriocarcinoma	Rarely (1–4%)

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Always

Growth abnormality

Trait	How often it is seen
Short stature	Always

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 MDM2 and how often each is seen. Find out more at hpo.jax.org.

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