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	How often it is seen
Extramedullary hematopoiesis	Always
Impaired ADP-induced platelet aggregation	Always
Impaired collagen-induced platelet aggregation	Always
Impaired epinephrine-induced platelet aggregation	Always
Increased number of platelets in blood	Always
Myelofibrosis	Always
Abnormal shape of platelets	Very often (80–99%)
Blood clot in artery	Very often (80–99%)
Blood clot in vein	Very often (80–99%)
Bone marrow disease	Very often (80–99%)
Increased megakaryocyte count	Very often (80–99%)
Megakaryocyte nucleus hyperlobulation	Very often (80–99%)
Platelet abnormalities	Very often (80–99%)
Prolonged bleeding time	Very often (80–99%)
Abnormal megakaryocyte morphology	Often (30–79%)
Abnormality of blood and blood-forming tissues	Often (30–79%)
Bleeding tendency	Often (30–79%)
Blood clot in liver vein	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Low platelet count	Often (30–79%)
Abnormal blood clot	Sometimes (5–29%)
Acute blood cancer	Sometimes (5–29%)
Blood spots	Sometimes (5–29%)
Bone marrow hypercellularity	Sometimes (5–29%)
Bruising susceptibility	Sometimes (5–29%)
Ecchymosis	Sometimes (5–29%)
Elevated white blood count	Sometimes (5–29%)
Gastrointestinal bleeding	Sometimes (5–29%)
Low blood cell count	Sometimes (5–29%)
Myelodysplasia	Sometimes (5–29%)
Petechiae	Sometimes (5–29%)
Poikilocytosis	Sometimes (5–29%)
Blood tumor	Rarely (1–4%)
Myeloproliferative disorder	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Accumulation of fluid in the abdomen	Very often (80–99%)
Abdominal pain	Often (30–79%)
Enlarged vein in esophagus	Often (30–79%)
Scar tissue replaces healthy tissue in the liver	Often (30–79%)
Acute liver failure	Sometimes (5–29%)
Anorexia	Sometimes (5–29%)
Death of digestive organ tissue due to poor blood supply	Sometimes (5–29%)
Gallbladder inflammation	Sometimes (5–29%)
Intestinal obstruction	Sometimes (5–29%)
Jaundice	Sometimes (5–29%)
Malabsorption	Sometimes (5–29%)
Peritonitis	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
Abnormality of the cerebral blood vessels	Very often (80–99%)
Heart attack	Very often (80–99%)
Portal hypertension	Very often (80–99%)
Enlarged liver and spleen	Often (30–79%)
Mini stroke	Sometimes (5–29%)
Swollen lymph nodes	Sometimes (5–29%)
Strawberry mark	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Pins and needles feeling	Very often (80–99%)
Difficulty staying or falling asleep	Often (30–79%)
Headache	Often (30–79%)
Migraine	Often (30–79%)
Hepatic encephalopathy	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Very often (80–99%)
Fatigue	Very often (80–99%)
Constitutional symptom	Often (30–79%)
Erythromelalgia	Sometimes (5–29%)
Flank pain	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase	Often (30–79%)
Fever	Often (30–79%)
High liver enzymes	Often (30–79%)
Low-grade fever	Sometimes (5–29%)
Increased circulating lactate dehydrogenase concentration	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Amaurosis fugax	Very often (80–99%)
Visual impairment	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Weight loss	Sometimes (5–29%)
Wasting syndrome	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Bipedal edema	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Renal failure	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Autoimmune antibody positivity	Not recorded

Abnormality of the integument

Trait	How often it is seen
Paleness	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Tired easily	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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