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	Hvor ofte den forekommer
Bowing of limbs due to multiple fractures	Alltid
Narrow chest	Alltid
Recurrent fractures	Alltid
Multiple fractures present at birth	Svært ofte (80–99 %)
Scoliosis	Svært ofte (80–99 %)
Compression fracture of a vertebral body	Ofte (30–79 %)
Hunched back	Ofte (30–79 %)
Osteopenia	Ofte (30–79 %)
Osteoporosis	Ofte (30–79 %)
Muscle tissue disease	Noen ganger (5–29 %)
Basal ganglia calcification	Sjelden (1–4%)
Involuntary muscle stiffness, contraction, or spasm	Sjelden (1–4%)
Muscle degeneration	Sjelden (1–4%)
Spastic paraplegia	Sjelden (1–4%)
Flattened vertebrae	Ikke registrert
Funnel chest	Ikke registrert
Multiple rib fractures	Ikke registrert
Pigeon chest	Ikke registrert

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Delayed motor skills	Alltid
Inability to walk	Ofte (30–79 %)
Nerve damage causing decreased feeling and movement	Ofte (30–79 %)
Abnormal gait	Noen ganger (5–29 %)
Ataxia	Noen ganger (5–29 %)
Abnormal periventricular white matter morphology	Sjelden (1–4%)
Absent reflexes	Sjelden (1–4%)
Atrophy/Degeneration affecting the brainstem	Sjelden (1–4%)
Cognitive impairment	Sjelden (1–4%)
Corpus callosum atrophy	Sjelden (1–4%)
Degeneration of cerebellum	Sjelden (1–4%)
Dementia	Sjelden (1–4%)
Epilepsy	Sjelden (1–4%)
Global developmental delay	Sjelden (1–4%)
Hallucinations	Sjelden (1–4%)
Migraine	Sjelden (1–4%)
Weakness of one side of body	Sjelden (1–4%)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Blue outer white part of eyeball	Alltid
Bulging eye	Alltid
Optic atrophy	Svært ofte (80–99 %)
Visual impairment	Svært ofte (80–99 %)
Abnormal color vision	Ofte (30–79 %)
Eye muscle paralysis	Ofte (30–79 %)
Moderate visual impairment	Ofte (30–79 %)
Morning glory anomaly	Ofte (30–79 %)
Temporal optic disc pallor	Ofte (30–79 %)
Blind spot located at fixation point	Noen ganger (5–29 %)
Drooping upper eyelid	Noen ganger (5–29 %)
Clouding of the lens of the eye	Sjelden (1–4%)
Duane anomaly	Sjelden (1–4%)
Involuntary, rapid, rhythmic eye movements	Sjelden (1–4%)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Bowing of the long bones	Alltid
Dropped arches	Alltid
Hip joint hypermobility	Alltid
Increased mobility in finger joint	Alltid
Thickening of shaft or central part of long bones	Alltid
High-arched foot	Sjelden (1–4%)
Winged shoulder blade	Sjelden (1–4%)
Short lower limbs	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Extra bones within cranial sutures	Alltid
Flat back of skull	Alltid
Triangular face	Alltid
Wider-than-typical soft spot of skull	Alltid
Dentinogenesis imperfecta	Svært ofte (80–99 %)
Weakness of facial musculature	Sjelden (1–4%)
Soft skullcap	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Umbilical hernia	Ofte (30–79 %)
Feeding difficulties	Sjelden (1–4%)
Poor swallowing	Sjelden (1–4%)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Decreased activity of gonads	Sjelden (1–4%)
Underactive thyroid	Sjelden (1–4%)

Constitutional symptom

Trait	Hvor ofte den forekommer
Fatigue	Sjelden (1–4%)
Muscle ache	Sjelden (1–4%)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Macrocytic anemia	Sjelden (1–4%)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Sensorineural hearing impairment	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Disproportionate short-limb short stature	Alltid

Laboratory abnormality

Trait	Hvor ofte den forekommer
Diabetes mellitus	Sjelden (1–4%)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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