Traits

Traits linked to PPIB

peptidylprolyl isomerase B

The Human Phenotype Ontology links 75 traits to PPIB, 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
Bowing of limbs due to multiple fractures	Always
Narrow chest	Always
Recurrent fractures	Always
Multiple fractures present at birth	Very often (80–99%)
Scoliosis	Very often (80–99%)
Compression fracture of a vertebral body	Often (30–79%)
Hunched back	Often (30–79%)
Osteopenia	Often (30–79%)
Osteoporosis	Often (30–79%)
Muscle tissue disease	Sometimes (5–29%)
Basal ganglia calcification	Rarely (1–4%)
Involuntary muscle stiffness, contraction, or spasm	Rarely (1–4%)
Muscle degeneration	Rarely (1–4%)
Spastic paraplegia	Rarely (1–4%)
Flattened vertebrae	Not recorded
Funnel chest	Not recorded
Multiple rib fractures	Not recorded
Pigeon chest	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed motor skills	Always
Inability to walk	Often (30–79%)
Nerve damage causing decreased feeling and movement	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Abnormal periventricular white matter morphology	Rarely (1–4%)
Absent reflexes	Rarely (1–4%)
Atrophy/Degeneration affecting the brainstem	Rarely (1–4%)
Cognitive impairment	Rarely (1–4%)
Corpus callosum atrophy	Rarely (1–4%)
Degeneration of cerebellum	Rarely (1–4%)
Dementia	Rarely (1–4%)
Epilepsy	Rarely (1–4%)
Global developmental delay	Rarely (1–4%)
Hallucinations	Rarely (1–4%)
Migraine	Rarely (1–4%)
Weakness of one side of body	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Always
Bulging eye	Always
Optic atrophy	Very often (80–99%)
Visual impairment	Very often (80–99%)
Abnormal color vision	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Moderate visual impairment	Often (30–79%)
Morning glory anomaly	Often (30–79%)
Temporal optic disc pallor	Often (30–79%)
Blind spot located at fixation point	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Clouding of the lens of the eye	Rarely (1–4%)
Duane anomaly	Rarely (1–4%)
Involuntary, rapid, rhythmic eye movements	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Bowing of the long bones	Always
Dropped arches	Always
Hip joint hypermobility	Always
Increased mobility in finger joint	Always
Thickening of shaft or central part of long bones	Always
High-arched foot	Rarely (1–4%)
Winged shoulder blade	Rarely (1–4%)
Short lower limbs	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Extra bones within cranial sutures	Always
Flat back of skull	Always
Triangular face	Always
Wider-than-typical soft spot of skull	Always
Dentinogenesis imperfecta	Very often (80–99%)
Weakness of facial musculature	Rarely (1–4%)
Soft skullcap	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Umbilical hernia	Often (30–79%)
Feeding difficulties	Rarely (1–4%)
Poor swallowing	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Rarely (1–4%)
Underactive thyroid	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Rarely (1–4%)
Muscle ache	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

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

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Disproportionate short-limb short stature	Always

Laboratory abnormality

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

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

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