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Traits
Traits linked to PDCD1
programmed cell death 1
The Human Phenotype Ontology links 61 traits to PDCD1, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the immune system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Anti-insulin antibody positivity | Alati |
| Extrapulmonary tuberculosis | Alati |
| Immune dysregulation | Alati |
| Antinuclear antibody positivity | Väga sageli (80–99%) |
| Anti-complement component C1q antibody positivity | Sageli (30–79%) |
| Anti-ribosome Po antibody positivity | Sageli (30–79%) |
| Anti-titin antibody positivity | Sageli (30–79%) |
| Antineutrophil antibody positivity | Sageli (30–79%) |
| Decreased circulating complement C3 concentration | Sageli (30–79%) |
| Decreased circulating complement C4 concentration | Sageli (30–79%) |
| Malar rash | Sageli (30–79%) |
| Anti-dsDNA antibody positivity | Mõnikord (5–29%) |
| Anti-La/SS-B antibody positivity | Mõnikord (5–29%) |
| Anti-nucleoporin 62 antibody positivity | Mõnikord (5–29%) |
| Anti-phosphatidic acid antibody positivity | Mõnikord (5–29%) |
| Anti-Ro52/TRIM21 antibody positivity | Mõnikord (5–29%) |
| Anti-Sm antibody positivity | Mõnikord (5–29%) |
| Anti-U1 ribonucleoprotein antibody positivity | Mõnikord (5–29%) |
| Discoid lupus rash | Mõnikord (5–29%) |
| Serositis | Mõnikord (5–29%) |
Laboratory abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay | Alati |
| Type 1 diabetes | Alati |
| Fever | Väga sageli (80–99%) |
| High urine protein levels | Väga sageli (80–99%) |
| Blood in urine | Sageli (30–79%) |
| High urine neutrophil count | Sageli (30–79%) |
Abnormality of blood and blood-forming tissues
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Bone marrow failure | Alati |
| Diffuse alveolar hemorrhage | Alati |
| Decreased blood leukocyte number | Sageli (30–79%) |
| Hemolytic anemia | Mõnikord (5–29%) |
| Low platelet count | Mõnikord (5–29%) |
Abnormality of head or neck
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal color of the oral mucosa | Mõnikord (5–29%) |
| Abnormality of salivation | Mõnikord (5–29%) |
| Inflammation of the lips | Mõnikord (5–29%) |
| Mouth sore | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Increased spleen size | Alati |
| High blood pressure | Sageli (30–79%) |
| Raynaud phenomenon | Sageli (30–79%) |
| Swollen lymph nodes | Mõnikord (5–29%) |
Abnormality of the digestive system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Enlarged liver | Alati |
| Peritoneal abscess | Alati |
| Anorexia | Väga sageli (80–99%) |
Abnormality of the integument
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Warts | Alati |
| Hair loss | Sageli (30–79%) |
| Photosensitive skin | Mõnikord (5–29%) |
Abnormality of the nervous system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Depression | Mõnikord (5–29%) |
| Epilepsy | Mõnikord (5–29%) |
| Chorea | Harva (1–4%) |
Abnormal cellular phenotype
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Increased circulating IgA concentration | Alati |
| Increased circulating IgG concentration | Alati |
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Arthritis | Alati |
| Polyarticular arthritis | Sageli (30–79%) |
Abnormality of the respiratory system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Ground-glass opacification | Alati |
| Respiratory failure | Alati |
Constitutional symptom
Abnormality of the ear
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Recurrent middle ear infection | Alati |
Abnormality of the endocrine system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Underactive thyroid | Alati |
Abnormality of the eye
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Noninflammatory retina disease | Harva (1–4%) |
Abnormality of the genitourinary system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Lupus nephritis | Sageli (30–79%) |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Weight loss | Väga sageli (80–99%) |
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 PDCD1 and how often each is seen. Find out more at hpo.jax.org.
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