Traits

Traits linked to CALR

calreticulin

The Human Phenotype Ontology links 80 traits to CALR, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Extramedullary hematopoiesis	Visada
Impaired ADP-induced platelet aggregation	Visada
Impaired collagen-induced platelet aggregation	Visada
Impaired epinephrine-induced platelet aggregation	Visada
Increased number of platelets in blood	Visada
Myelofibrosis	Visada
Abnormal shape of platelets	Labai dažnai (80–99%)
Blood clot in artery	Labai dažnai (80–99%)
Blood clot in vein	Labai dažnai (80–99%)
Bone marrow disease	Labai dažnai (80–99%)
Increased megakaryocyte count	Labai dažnai (80–99%)
Megakaryocyte nucleus hyperlobulation	Labai dažnai (80–99%)
Platelet abnormalities	Labai dažnai (80–99%)
Prolonged bleeding time	Labai dažnai (80–99%)
Abnormal megakaryocyte morphology	Dažnai (30–79%)
Abnormality of blood and blood-forming tissues	Dažnai (30–79%)
Bleeding tendency	Dažnai (30–79%)
Blood clot in liver vein	Dažnai (30–79%)
Low number of red blood cells or hemoglobin	Dažnai (30–79%)
Low platelet count	Dažnai (30–79%)
Abnormal blood clot	Kartais (5–29%)
Acute blood cancer	Kartais (5–29%)
Blood spots	Kartais (5–29%)
Bone marrow hypercellularity	Kartais (5–29%)
Bruising susceptibility	Kartais (5–29%)
Ecchymosis	Kartais (5–29%)
Elevated white blood count	Kartais (5–29%)
Gastrointestinal bleeding	Kartais (5–29%)
Low blood cell count	Kartais (5–29%)
Myelodysplasia	Kartais (5–29%)
Petechiae	Kartais (5–29%)
Poikilocytosis	Kartais (5–29%)
Blood tumor	Retai (1–4 %)
Myeloproliferative disorder	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Enlarged liver	Visada
Accumulation of fluid in the abdomen	Labai dažnai (80–99%)
Abdominal pain	Dažnai (30–79%)
Enlarged vein in esophagus	Dažnai (30–79%)
Scar tissue replaces healthy tissue in the liver	Dažnai (30–79%)
Acute liver failure	Kartais (5–29%)
Anorexia	Kartais (5–29%)
Death of digestive organ tissue due to poor blood supply	Kartais (5–29%)
Gallbladder inflammation	Kartais (5–29%)
Intestinal obstruction	Kartais (5–29%)
Jaundice	Kartais (5–29%)
Malabsorption	Kartais (5–29%)
Peritonitis	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Increased spleen size	Visada
Abnormality of the cerebral blood vessels	Labai dažnai (80–99%)
Heart attack	Labai dažnai (80–99%)
Portal hypertension	Labai dažnai (80–99%)
Enlarged liver and spleen	Dažnai (30–79%)
Mini stroke	Kartais (5–29%)
Swollen lymph nodes	Kartais (5–29%)
Strawberry mark	Retai (1–4 %)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Pins and needles feeling	Labai dažnai (80–99%)
Difficulty staying or falling asleep	Dažnai (30–79%)
Headache	Dažnai (30–79%)
Migraine	Dažnai (30–79%)
Hepatic encephalopathy	Kartais (5–29%)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Chest pain	Labai dažnai (80–99%)
Fatigue	Labai dažnai (80–99%)
Constitutional symptom	Dažnai (30–79%)
Erythromelalgia	Kartais (5–29%)
Flank pain	Kartais (5–29%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Elevated alkaline phosphatase	Dažnai (30–79%)
Fever	Dažnai (30–79%)
High liver enzymes	Dažnai (30–79%)
Low-grade fever	Kartais (5–29%)
Increased circulating lactate dehydrogenase concentration	Retai (1–4 %)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Amaurosis fugax	Labai dažnai (80–99%)
Visual impairment	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Weight loss	Kartais (5–29%)
Wasting syndrome	Retai (1–4 %)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Bipedal edema	Dažnai (30–79%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Dizziness	Dažnai (30–79%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Renal failure	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Autoimmune antibody positivity	Neužfiksuota

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Paleness	Visada

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Tired easily	Kartais (5–29%)

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 CALR and how often each is seen. Find out more at hpo.jax.org.

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