Traits

Traits linked to OSTM1

osteoclastogenesis associated transmembrane protein 1

The Human Phenotype Ontology links 86 traits to OSTM1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Harder, denser, fracture-prone bones	Always
Increased bone mineral density	Always
Abnormal shape of end part of bone	Very often (80–99%)
Abnormality of the ribs	Very often (80–99%)
Bone pain	Very often (80–99%)
Low solidness and mass of the bones	Very often (80–99%)
Narrow chest	Very often (80–99%)
Recurrent fractures	Very often (80–99%)
Low muscle tone in trunk	Often (30–79%)
Poor head control	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Decreased osteoclast count	Not recorded
Generalized decreased muscle tone	Not recorded
Spastic tetraplegia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Always
Enlargement of skull bones	Always
Big calvaria	Very often (80–99%)
Chronic rhinitis	Very often (80–99%)
Deformity of the skull	Very often (80–99%)
Delayed eruption of teeth	Very often (80–99%)
Early loss of baby teeth	Very often (80–99%)
Abnormally small head	Often (30–79%)
Gum enlargement	Often (30–79%)
Long philtrum	Often (30–79%)
Square face	Often (30–79%)
Little lower jaw	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Irritability	Always
Abnormality of movement	Very often (80–99%)
Too much cerebrospinal fluid in the brain	Very often (80–99%)
Tremor	Very often (80–99%)
Clonus	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Diffuse white matter abnormalities	Often (30–79%)
Increased reflexes	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Cranial nerve paralysis	Sometimes (5–29%)
Generalized-onset seizure	Not recorded

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Always
Dilated pupil	Always
Visual impairment	Always
Abnormality of visual evoked potentials	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Opsoclonus	Very often (80–99%)
Optic nerve compression	Very often (80–99%)
Marked vision impairment	Often (30–79%)
Optic atrophy	Often (30–79%)
Optic disc pallor	Often (30–79%)
Undetectable visual evoked potentials	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated white blood count	Always
Hypochromic microcytic anemia	Always
Low number of red blood cells or hemoglobin	Very often (80–99%)
Low blood cell count	Often (30–79%)
Low platelet count	Often (30–79%)
Bruising susceptibility	Sometimes (5–29%)
Abnormality of the coagulation cascade	Not recorded
Extramedullary hematopoiesis	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
Swollen lymph nodes	Very often (80–99%)
Enlarged liver and spleen	Often (30–79%)
Abnormal pulmonary valve morphology	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Narrowing of lung artery	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of a long bone	Very often (80–99%)
Bowing of the long bones	Very often (80–99%)
Increased muscle tone of arm or leg	Often (30–79%)
Partial hip dislocation	Often (30–79%)
Flared wide portion of long bone	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormality of temperature regulation	Very often (80–99%)
Laboratory abnormality	Very often (80–99%)
Low blood calcium levels	Sometimes (5–29%)
Low blood phosphate level	Sometimes (5–29%)
High blood bilirubin levels	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Accumulation of fluid in the abdomen	Not recorded
Liver failure	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormal blistering of the skin	Very often (80–99%)
Abnormality of hair texture	Very often (80–99%)
Paleness	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Very often (80–99%)
Middle ear infection	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Sometimes (5–29%)
Respiratory failure	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Very often (80–99%)
Short stature	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	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 OSTM1 and how often each is seen. Find out more at hpo.jax.org.

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