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Traits
Traits linked to PRF1
perforin 1
The Human Phenotype Ontology links 77 traits to PRF1, by body system: features seen in people with one of the gene's rare conditions.
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AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of blood and blood-forming tissues
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Aplastic anemia | Alati |
| Low blood cell count | Alati |
| Low number of red blood cells or hemoglobin | Alati |
| Low platelet count | Alati |
| Abnormality of multiple cell lineages in the bone marrow | Väga sageli (80–99%) |
| Bone marrow failure | Väga sageli (80–99%) |
| Hemophagocytosis | Väga sageli (80–99%) |
| Hypofibrinogenemia | Väga sageli (80–99%) |
| Abnormality of the coagulation cascade | Sageli (30–79%) |
| Blood spots | Sageli (30–79%) |
| Ecchymosis | Sageli (30–79%) |
| Low blood neutrophil count | Sageli (30–79%) |
| Petechiae | Sageli (30–79%) |
| Reticulocytopenia | Sageli (30–79%) |
| Bleeding gums | Mõnikord (5–29%) |
| Bloody nose | Mõnikord (5–29%) |
| Bruising susceptibility | Mõnikord (5–29%) |
| Retinal bleeding | Mõnikord (5–29%) |
| Cancer of lymphatic system | Pole registreeritud |
| Decreased blood leukocyte number | Pole registreeritud |
| Prolonged prothrombin time | Pole registreeritud |
Abnormality of the nervous system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Ataxia | Alati |
| CNS demyelination | Alati |
| Rise in pressure inside skull | Alati |
| CSF pleocytosis | Sageli (30–79%) |
| Abnormal cerebral white matter morphology | Mõnikord (5–29%) |
| Abnormality of the nervous system | Mõnikord (5–29%) |
| Coma | Mõnikord (5–29%) |
| Epilepsy | Mõnikord (5–29%) |
| Peripheral neuropathy | Mõnikord (5–29%) |
| Global developmental delay | Pole registreeritud |
| Irritability | Pole registreeritud |
| Paralysis of all four limbs | Pole registreeritud |
| Paralysis on one side of body | Pole registreeritud |
Abnormality of the immune system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal circulating cytokine concentration | Väga sageli (80–99%) |
| Abnormality of tumor necrosis factor secretion | Väga sageli (80–99%) |
| Immune dysregulation | Väga sageli (80–99%) |
| Increased circulating interferon-gamma concentration | Väga sageli (80–99%) |
| Increased circulating interleukin 6 concentration | Sageli (30–79%) |
| Red scaly skin caused by inflammatory skin disease | Sageli (30–79%) |
| Skin rash | Sageli (30–79%) |
| Brain inflammation | Mõnikord (5–29%) |
| Maculopapular exanthema | Mõnikord (5–29%) |
| Recurrent infections | Mõnikord (5–29%) |
| Autoimmune antibody positivity | Pole registreeritud |
| Meningitis | Pole registreeritud |
Laboratory abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Episodic fever | Alati |
| High bili total | Alati |
| High liver enzymes | Alati |
| Increased CSF protein concentration | Alati |
| Elevated serum ferritin | Väga sageli (80–99%) |
| Fever | Väga sageli (80–99%) |
| Low albumin | Väga sageli (80–99%) |
| Fluid retention | Sageli (30–79%) |
| Increased plasma triglycerides | Sageli (30–79%) |
| Decreased protein levels in blood | Pole registreeritud |
| Generalized edema | Pole registreeritud |
| Low blood sodium levels | Pole registreeritud |
Abnormality of the digestive system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Enlarged liver | Alati |
| Jaundice | Väga sageli (80–99%) |
| Cholestatic liver disease | Sageli (30–79%) |
| Decreased liver function | Sageli (30–79%) |
| Colitis | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Functional motor deficit | Mõnikord (5–29%) |
| Generalized decreased muscle tone | Pole registreeritud |
| Low muscle tone | Pole registreeritud |
| Spasticity and rigidity of muscles | Pole registreeritud |
Abnormality of the cardiovascular system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Enlarged liver and spleen | Alati |
| Increased spleen size | Väga sageli (80–99%) |
| Swollen lymph nodes | Sageli (30–79%) |
Abnormal cellular phenotype
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal natural killer cell physiology | Alati |
| Decreased circulating antibody level | Mõnikord (5–29%) |
Abnormality of the ear
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Sensorineural hearing impairment | Harva (1–4%) |
Abnormality of the genitourinary system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal kidney function | Sageli (30–79%) |
Abnormality of the integument
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal skin structure | Sageli (30–79%) |
Abnormality of the respiratory system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the respiratory system | Sageli (30–79%) |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Pole registreeritud |
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 PRF1 and how often each is seen. Find out more at hpo.jax.org.
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