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	Kaip dažnai pasireiškia
Bowing of limbs due to multiple fractures	Visada
Narrow chest	Visada
Recurrent fractures	Visada
Multiple fractures present at birth	Labai dažnai (80–99%)
Scoliosis	Labai dažnai (80–99%)
Compression fracture of a vertebral body	Dažnai (30–79%)
Hunched back	Dažnai (30–79%)
Osteopenia	Dažnai (30–79%)
Osteoporosis	Dažnai (30–79%)
Muscle tissue disease	Kartais (5–29%)
Basal ganglia calcification	Retai (1–4 %)
Involuntary muscle stiffness, contraction, or spasm	Retai (1–4 %)
Muscle degeneration	Retai (1–4 %)
Spastic paraplegia	Retai (1–4 %)
Flattened vertebrae	Neužfiksuota
Funnel chest	Neužfiksuota
Multiple rib fractures	Neužfiksuota
Pigeon chest	Neužfiksuota

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Delayed motor skills	Visada
Inability to walk	Dažnai (30–79%)
Nerve damage causing decreased feeling and movement	Dažnai (30–79%)
Abnormal gait	Kartais (5–29%)
Ataxia	Kartais (5–29%)
Abnormal periventricular white matter morphology	Retai (1–4 %)
Absent reflexes	Retai (1–4 %)
Atrophy/Degeneration affecting the brainstem	Retai (1–4 %)
Cognitive impairment	Retai (1–4 %)
Corpus callosum atrophy	Retai (1–4 %)
Degeneration of cerebellum	Retai (1–4 %)
Dementia	Retai (1–4 %)
Epilepsy	Retai (1–4 %)
Global developmental delay	Retai (1–4 %)
Hallucinations	Retai (1–4 %)
Migraine	Retai (1–4 %)
Weakness of one side of body	Retai (1–4 %)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Blue outer white part of eyeball	Visada
Bulging eye	Visada
Optic atrophy	Labai dažnai (80–99%)
Visual impairment	Labai dažnai (80–99%)
Abnormal color vision	Dažnai (30–79%)
Eye muscle paralysis	Dažnai (30–79%)
Moderate visual impairment	Dažnai (30–79%)
Morning glory anomaly	Dažnai (30–79%)
Temporal optic disc pallor	Dažnai (30–79%)
Blind spot located at fixation point	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Clouding of the lens of the eye	Retai (1–4 %)
Duane anomaly	Retai (1–4 %)
Involuntary, rapid, rhythmic eye movements	Retai (1–4 %)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Bowing of the long bones	Visada
Dropped arches	Visada
Hip joint hypermobility	Visada
Increased mobility in finger joint	Visada
Thickening of shaft or central part of long bones	Visada
High-arched foot	Retai (1–4 %)
Winged shoulder blade	Retai (1–4 %)
Short lower limbs	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Extra bones within cranial sutures	Visada
Flat back of skull	Visada
Triangular face	Visada
Wider-than-typical soft spot of skull	Visada
Dentinogenesis imperfecta	Labai dažnai (80–99%)
Weakness of facial musculature	Retai (1–4 %)
Soft skullcap	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Umbilical hernia	Dažnai (30–79%)
Feeding difficulties	Retai (1–4 %)
Poor swallowing	Retai (1–4 %)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Decreased activity of gonads	Retai (1–4 %)
Underactive thyroid	Retai (1–4 %)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Fatigue	Retai (1–4 %)
Muscle ache	Retai (1–4 %)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Macrocytic anemia	Retai (1–4 %)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Dažnai (30–79%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Disproportionate short-limb short stature	Visada

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Diabetes mellitus	Retai (1–4 %)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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