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	Kui sageli seda täheldatakse
Bowing of limbs due to multiple fractures	Alati
Narrow chest	Alati
Recurrent fractures	Alati
Multiple fractures present at birth	Väga sageli (80–99%)
Scoliosis	Väga sageli (80–99%)
Compression fracture of a vertebral body	Sageli (30–79%)
Hunched back	Sageli (30–79%)
Osteopenia	Sageli (30–79%)
Osteoporosis	Sageli (30–79%)
Muscle tissue disease	Mõnikord (5–29%)
Basal ganglia calcification	Harva (1–4%)
Involuntary muscle stiffness, contraction, or spasm	Harva (1–4%)
Muscle degeneration	Harva (1–4%)
Spastic paraplegia	Harva (1–4%)
Flattened vertebrae	Pole registreeritud
Funnel chest	Pole registreeritud
Multiple rib fractures	Pole registreeritud
Pigeon chest	Pole registreeritud

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Delayed motor skills	Alati
Inability to walk	Sageli (30–79%)
Nerve damage causing decreased feeling and movement	Sageli (30–79%)
Abnormal gait	Mõnikord (5–29%)
Ataxia	Mõnikord (5–29%)
Abnormal periventricular white matter morphology	Harva (1–4%)
Absent reflexes	Harva (1–4%)
Atrophy/Degeneration affecting the brainstem	Harva (1–4%)
Cognitive impairment	Harva (1–4%)
Corpus callosum atrophy	Harva (1–4%)
Degeneration of cerebellum	Harva (1–4%)
Dementia	Harva (1–4%)
Epilepsy	Harva (1–4%)
Global developmental delay	Harva (1–4%)
Hallucinations	Harva (1–4%)
Migraine	Harva (1–4%)
Weakness of one side of body	Harva (1–4%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Blue outer white part of eyeball	Alati
Bulging eye	Alati
Optic atrophy	Väga sageli (80–99%)
Visual impairment	Väga sageli (80–99%)
Abnormal color vision	Sageli (30–79%)
Eye muscle paralysis	Sageli (30–79%)
Moderate visual impairment	Sageli (30–79%)
Morning glory anomaly	Sageli (30–79%)
Temporal optic disc pallor	Sageli (30–79%)
Blind spot located at fixation point	Mõnikord (5–29%)
Drooping upper eyelid	Mõnikord (5–29%)
Clouding of the lens of the eye	Harva (1–4%)
Duane anomaly	Harva (1–4%)
Involuntary, rapid, rhythmic eye movements	Harva (1–4%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Bowing of the long bones	Alati
Dropped arches	Alati
Hip joint hypermobility	Alati
Increased mobility in finger joint	Alati
Thickening of shaft or central part of long bones	Alati
High-arched foot	Harva (1–4%)
Winged shoulder blade	Harva (1–4%)
Short lower limbs	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Extra bones within cranial sutures	Alati
Flat back of skull	Alati
Triangular face	Alati
Wider-than-typical soft spot of skull	Alati
Dentinogenesis imperfecta	Väga sageli (80–99%)
Weakness of facial musculature	Harva (1–4%)
Soft skullcap	Pole registreeritud

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Umbilical hernia	Sageli (30–79%)
Feeding difficulties	Harva (1–4%)
Poor swallowing	Harva (1–4%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Decreased activity of gonads	Harva (1–4%)
Underactive thyroid	Harva (1–4%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Fatigue	Harva (1–4%)
Muscle ache	Harva (1–4%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Macrocytic anemia	Harva (1–4%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Sageli (30–79%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Disproportionate short-limb short stature	Alati

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Diabetes mellitus	Harva (1–4%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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