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Trăsături

Trăsături asociate cu CASP10

caspase 10

Human Phenotype Ontology asociază 90 trăsături cu CASP10, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of blood and blood-forming tissues

TrăsăturăCât de frecvent apare
Autoimmune hemolytic anemiaÎntotdeauna
Coombs-positive hemolytic anemiaÎntotdeauna
Increased double-negative T cell numberÎntotdeauna
Autoimmune neutropeniaDes (30–79%)
Autoimmune thrombocytopeniaDes (30–79%)
Bleeding tendencyDes (30–79%)
Bruising susceptibilityDes (30–79%)
Increased total B cell countDes (30–79%)
Abnormal CD4+ T cell subset proportionUneori (5–29%)
Abnormal total CD8+ T cell numberUneori (5–29%)
B-cell lymphomaUneori (5–29%)
Burkitt lymphomaUneori (5–29%)
Decreased blood lymphocyte numberUneori (5–29%)
Decreased total CD4+ T cell proportionUneori (5–29%)
High blood eosinophil countUneori (5–29%)
High lymphocyte countUneori (5–29%)
Hodgkin lymphomaUneori (5–29%)
Increased immature red blood cellsUneori (5–29%)
Non-Hodgkin lymphomaUneori (5–29%)
T-cell lymphomaUneori (5–29%)
Bone marrow failureRar (1–4%)
Bone marrow hypercellularityRar (1–4%)
Cancer of lymphatic systemNeînregistrat
Gastrointestinal bleedingNeînregistrat
Increased HLA-DR+ CD4+ T cell proportionNeînregistrat
Iron deficiency anemiaNeînregistrat
Low platelet countNeînregistrat
PetechiaeNeînregistrat

Abnormality of the immune system

TrăsăturăCât de frecvent apare
Rheumatoid factor positiveÎntotdeauna
AutoimmunityFoarte des (80–99%)
Abnormal circulating interleukin concentrationDes (30–79%)
Increased circulating interleukin 10 concentrationDes (30–79%)
Antineutrophil antibody positivityUneori (5–29%)
Antinuclear antibody positivityUneori (5–29%)
Antiphospholipid antibody positivityUneori (5–29%)
Decreased specific anti-polysaccharide antibody concentrationUneori (5–29%)
Increased circulating interleukin 18 concentrationUneori (5–29%)
Inflammation of fat tissueRar (1–4%)
Systemic lupus erythematosusRar (1–4%)
Anti-smooth muscle antibody positivityNeînregistrat
Malar rashNeînregistrat
Platelet antibody positiveNeînregistrat

Abnormal cellular phenotype

TrăsăturăCât de frecvent apare
Abnormal T cell apoptosisDes (30–79%)
Increased antibody level in bloodDes (30–79%)
Increased circulating IgG concentrationDes (30–79%)
Decreased circulating IgG concentrationUneori (5–29%)
Decreased circulating IgM concentrationUneori (5–29%)
Increased circulating IgA concentrationUneori (5–29%)
Increased circulating IgE concentrationUneori (5–29%)
Decreased T cell apoptosisNeînregistrat
Increased circulating IgM concentrationNeînregistrat
Reduced delayed hypersensitivityNeînregistrat

Abnormality of the cardiovascular system

TrăsăturăCât de frecvent apare
Increased spleen sizeÎntotdeauna
Swollen lymph nodesÎntotdeauna
Chronic noninfectious lymphadenopathyFoarte des (80–99%)
HypersplenismDes (30–79%)
HivesUneori (5–29%)
Inflammation of blood vesselUneori (5–29%)
Follicular hyperplasiaNeînregistrat

Abnormality of the digestive system

TrăsăturăCât de frecvent apare
Enlarged liverÎntotdeauna
Liver inflammationUneori (5–29%)
ColitisRar (1–4%)
Hepatocellular carcinomaRar (1–4%)
Stomach inflammationRar (1–4%)
Stomach cancerNeînregistrat

Laboratory abnormality

TrăsăturăCât de frecvent apare
High ESRÎntotdeauna
Abnormal vitamin B12 concentrationUneori (5–29%)
Elevated circulating sFASL concentrationUneori (5–29%)
Elevated circulating vitamin B12 concentrationUneori (5–29%)
Hydrops fetalisRar (1–4%)
Increased level of L-fucose in urineNeînregistrat

Abnormality of the genitourinary system

TrăsăturăCât de frecvent apare
GlomerulonephritisUneori (5–29%)
Early menopauseRar (1–4%)
Renal failureRar (1–4%)
Kidney inflammationNeînregistrat
Nephrotic syndromeNeînregistrat

Abnormality of the endocrine system

TrăsăturăCât de frecvent apare
Thyroid gland inflammationUneori (5–29%)
Thyroid adenomaRar (1–4%)
Thyroid carcinomaRar (1–4%)

Abnormality of head or neck

TrăsăturăCât de frecvent apare
Neoplasm of the tongueRar (1–4%)
Recurrent canker soresRar (1–4%)

Abnormality of the integument

TrăsăturăCât de frecvent apare
Basal cell carcinomaRar (1–4%)
Skin cancerRar (1–4%)

Abnormality of the nervous system

TrăsăturăCât de frecvent apare
EpilepsyRar (1–4%)
HeadacheRar (1–4%)

Abnormality of the respiratory system

TrăsăturăCât de frecvent apare
Lung infiltratesRar (1–4%)
Pulmonary scarringRar (1–4%)

Abnormality of the breast

TrăsăturăCât de frecvent apare
Fibroadenoma of the breastRar (1–4%)

Abnormality of the eye

TrăsăturăCât de frecvent apare
UveitisRar (1–4%)

Abnormality of the musculoskeletal system

TrăsăturăCât de frecvent apare
ArthritisRar (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

  • Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu CASP10 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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