Traits

Traits linked to BLK

BLK proto-oncogene, Src family tyrosine kinase

The Human Phenotype Ontology links 71 traits to BLK, by body system: features seen in people with one of the gene's rare conditions.

BLK

Abnormality of the immune system

Trait	How often it is seen
Antinuclear antibody positivity	Very often (80–99%)
Anti-complement component C1q antibody positivity	Often (30–79%)
Anti-ribosome Po antibody positivity	Often (30–79%)
Anti-titin antibody positivity	Often (30–79%)
Antineutrophil antibody positivity	Often (30–79%)
Decreased circulating complement C3 concentration	Often (30–79%)
Decreased circulating complement C4 concentration	Often (30–79%)
Malar rash	Often (30–79%)
Anti-dsDNA antibody positivity	Sometimes (5–29%)
Anti-La/SS-B antibody positivity	Sometimes (5–29%)
Anti-nucleoporin 62 antibody positivity	Sometimes (5–29%)
Anti-phosphatidic acid antibody positivity	Sometimes (5–29%)
Anti-Ro52/TRIM21 antibody positivity	Sometimes (5–29%)
Anti-Sm antibody positivity	Sometimes (5–29%)
Anti-U1 ribonucleoprotein antibody positivity	Sometimes (5–29%)
Discoid lupus rash	Sometimes (5–29%)
Serositis	Sometimes (5–29%)
Autoimmune antibody positivity	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fever	Very often (80–99%)
High urine protein levels	Very often (80–99%)
Abnormal circulating C-peptide concentration	Often (30–79%)
Abnormal oral glucose tolerance	Often (30–79%)
Blood in urine	Often (30–79%)
Glucose in urine	Often (30–79%)
Glucose intolerance	Often (30–79%)
High blood sugar	Often (30–79%)
High urine neutrophil count	Often (30–79%)
Hyperinsulinemic hypoglycemia	Sometimes (5–29%)
Insulin resistant diabetes	Sometimes (5–29%)
Low blood sugar in newborn	Sometimes (5–29%)
Transient neonatal diabetes mellitus	Sometimes (5–29%)
Diabetic ketoacidosis	Not recorded
Maturity-onset diabetes of the young	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Lupus nephritis	Often (30–79%)
Kidney damage	Sometimes (5–29%)
Abnormality of the genitourinary system	Rarely (1–4%)
Abnormality of the kidney	Rarely (1–4%)
Cystic kidney disease	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Weight loss	Very often (80–99%)
Birth weight > 90th percentile	Sometimes (5–29%)
Overweight	Sometimes (5–29%)
Prenatal growth deficiency	Sometimes (5–29%)
Obesity	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased blood leukocyte number	Often (30–79%)
Elevated hemoglobin A1c	Often (30–79%)
Hemolytic anemia	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal color of the oral mucosa	Sometimes (5–29%)
Abnormality of salivation	Sometimes (5–29%)
Inflammation of the lips	Sometimes (5–29%)
Mouth sore	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Anorexia	Very often (80–99%)
Hepatocellular adenoma	Rarely (1–4%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Rarely (1–4%)
Underdeveloped pancreas	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Often (30–79%)
Raynaud phenomenon	Often (30–79%)
Swollen lymph nodes	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Hair loss	Often (30–79%)
Photosensitive skin	Sometimes (5–29%)
Darkened and thickened skin	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Depression	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Chorea	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal circulating insulin concentration	Often (30–79%)
Hypoinsulinemia	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Often (30–79%)
Polyarticular arthritis	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)
Malaise	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Noninflammatory retina disease	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 BLK and how often each is seen. Find out more at hpo.jax.org.

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