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	Cât de frecvent apare
Bowing of limbs due to multiple fractures	Întotdeauna
Narrow chest	Întotdeauna
Recurrent fractures	Întotdeauna
Multiple fractures present at birth	Foarte des (80–99%)
Scoliosis	Foarte des (80–99%)
Compression fracture of a vertebral body	Des (30–79%)
Hunched back	Des (30–79%)
Osteopenia	Des (30–79%)
Osteoporosis	Des (30–79%)
Muscle tissue disease	Uneori (5–29%)
Basal ganglia calcification	Rar (1–4%)
Involuntary muscle stiffness, contraction, or spasm	Rar (1–4%)
Muscle degeneration	Rar (1–4%)
Spastic paraplegia	Rar (1–4%)
Flattened vertebrae	Neînregistrat
Funnel chest	Neînregistrat
Multiple rib fractures	Neînregistrat
Pigeon chest	Neînregistrat

Abnormality of the nervous system

Trait	Cât de frecvent apare
Delayed motor skills	Întotdeauna
Inability to walk	Des (30–79%)
Nerve damage causing decreased feeling and movement	Des (30–79%)
Abnormal gait	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Abnormal periventricular white matter morphology	Rar (1–4%)
Absent reflexes	Rar (1–4%)
Atrophy/Degeneration affecting the brainstem	Rar (1–4%)
Cognitive impairment	Rar (1–4%)
Corpus callosum atrophy	Rar (1–4%)
Degeneration of cerebellum	Rar (1–4%)
Dementia	Rar (1–4%)
Epilepsy	Rar (1–4%)
Global developmental delay	Rar (1–4%)
Hallucinations	Rar (1–4%)
Migraine	Rar (1–4%)
Weakness of one side of body	Rar (1–4%)

Abnormality of the eye

Trait	Cât de frecvent apare
Blue outer white part of eyeball	Întotdeauna
Bulging eye	Întotdeauna
Optic atrophy	Foarte des (80–99%)
Visual impairment	Foarte des (80–99%)
Abnormal color vision	Des (30–79%)
Eye muscle paralysis	Des (30–79%)
Moderate visual impairment	Des (30–79%)
Morning glory anomaly	Des (30–79%)
Temporal optic disc pallor	Des (30–79%)
Blind spot located at fixation point	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Clouding of the lens of the eye	Rar (1–4%)
Duane anomaly	Rar (1–4%)
Involuntary, rapid, rhythmic eye movements	Rar (1–4%)

Abnormality of limbs

Trait	Cât de frecvent apare
Bowing of the long bones	Întotdeauna
Dropped arches	Întotdeauna
Hip joint hypermobility	Întotdeauna
Increased mobility in finger joint	Întotdeauna
Thickening of shaft or central part of long bones	Întotdeauna
High-arched foot	Rar (1–4%)
Winged shoulder blade	Rar (1–4%)
Short lower limbs	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Extra bones within cranial sutures	Întotdeauna
Flat back of skull	Întotdeauna
Triangular face	Întotdeauna
Wider-than-typical soft spot of skull	Întotdeauna
Dentinogenesis imperfecta	Foarte des (80–99%)
Weakness of facial musculature	Rar (1–4%)
Soft skullcap	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Umbilical hernia	Des (30–79%)
Feeding difficulties	Rar (1–4%)
Poor swallowing	Rar (1–4%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Decreased activity of gonads	Rar (1–4%)
Underactive thyroid	Rar (1–4%)

Constitutional symptom

Trait	Cât de frecvent apare
Fatigue	Rar (1–4%)
Muscle ache	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Macrocytic anemia	Rar (1–4%)

Abnormality of the ear

Trait	Cât de frecvent apare
Sensorineural hearing impairment	Des (30–79%)

Growth abnormality

Trait	Cât de frecvent apare
Disproportionate short-limb short stature	Întotdeauna

Laboratory abnormality

Trait	Cât de frecvent apare
Diabetes mellitus	Rar (1–4%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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