Traits

Traits linked to PML

PML nuclear body scaffold

The Human Phenotype Ontology links 36 traits to PML, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding gums	Often (30–79%)
Bleeding tendency	Often (30–79%)
Blood spots	Often (30–79%)
Bloody nose	Often (30–79%)
Bone marrow hypercellularity	Often (30–79%)
Bruising susceptibility	Often (30–79%)
Decreased blood leukocyte number	Often (30–79%)
Disseminated intravascular coagulation	Often (30–79%)
Ecchymosis	Often (30–79%)
Low blood cell count	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Low platelet count	Often (30–79%)
Petechiae	Often (30–79%)
Diffuse alveolar hemorrhage	Sometimes (5–29%)
Elevated white blood count	Sometimes (5–29%)
Hypofibrinogenemia	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Oral cavity bleeding	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Gum enlargement	Sometimes (5–29%)
Inflammation of the mouth	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Anorexia	Often (30–79%)
Abdominal pain	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle weakness	Often (30–79%)
Bone pain	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Wet cough	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Death of body tissue due to lack of blood flow or infection	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Fever	Often (30–79%)
Blood in urine	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Swollen lymph nodes	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal uterus bleeding	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Chronic infection	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Addictive alcohol use	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Weight loss	Often (30–79%)

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

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