Traits

Traits linked to PLEKHM1

pleckstrin homology and RUN domain containing M1

The Human Phenotype Ontology links 36 traits to PLEKHM1, by body system: features seen in people with one of the gene's rare conditions.

PLEKHM1

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cortical sclerosis of the iliac wing	Always
Harder, denser, fracture-prone bones	Always
Osteopenia	Always
Pigeon chest	Always
Recurrent fractures	Always
Abnormality of bone mineral density	Very often (80–99%)
Back pain	Often (30–79%)
Cortical sclerosis	Often (30–79%)
Increased bone density in skeletal bones	Often (30–79%)
Increased susceptibility to fractures	Often (30–79%)
Sandwich appearance of vertebral bodies	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Early tooth loss	Always
Increased thickness of skull cap	Always
Inflamed gums	Always
Osteosclerosis of the base of the skull	Often (30–79%)
Abnormal dentition	Rarely (1–4%)
Abnormality of dental shape	Rarely (1–4%)
Bad bite	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Always
Low platelet count	Not recorded

Abnormality of limbs

Trait	How often it is seen
Erlenmeyer flask shaped thighbone	Often (30–79%)
Dense metaphyseal bands	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
Enlarged liver and spleen	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Optic atrophy from cranial nerve compression	Rarely (1–4%)
Visual impairment	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Bone infection	Rarely (1–4%)
Chronic infection	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of the nervous system	Sometimes (5–29%)
Cranial nerve compression	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Always
Lack of energy and strength	Always

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase	Sometimes (5–29%)
Low blood calcium levels	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always

Abnormality of the endocrine system

Trait	How often it is seen
Elevated blood parathyroid hormone level	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 PLEKHM1 and how often each is seen. Find out more at hpo.jax.org.

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