Traits

Traits linked to SH2D1A

SH2 domain containing 1A

The Human Phenotype Ontology links 28 traits to SH2D1A, 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
Low blood cell count	Always
Hemophagocytosis	Often (30–79%)
Burkitt lymphoma	Sometimes (5–29%)
Cancer of lymphatic system	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Aplastic anemia	Rarely (1–4%)
High lymphocyte count	Not recorded
Low platelet count	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)
Meningitis	Sometimes (5–29%)
Severe Epstein Barr virus infection	Sometimes (5–29%)
Brain inflammation	Not recorded
Decreased immune function	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Abnormal natural killer cell physiology	Always
Decreased circulating antibody level	Often (30–79%)
Decreased circulating IgG concentration	Often (30–79%)
Increased circulating IgM concentration	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Often (30–79%)
Inflammation of blood vessel	Rarely (1–4%)
Swollen lymph nodes	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Often (30–79%)
Fulminant hepatitis	Sometimes (5–29%)
Liver failure	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating C-reactive protein concentration	Always
Episodic fever	Always
Low albumin	Always

Abnormality of head or neck

Trait	How often it is seen
Recurrent sore throat	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Hepatic encephalopathy	Not recorded

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 SH2D1A and how often each is seen. Find out more at hpo.jax.org.

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