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Items: 4

1.

Glioma susceptibility 3

Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene. [from MONDO]

MedGen UID:
442777
Concept ID:
C2751641
Finding
2.

Thrombocytopenia 5

Individuals with ETV6 thrombocytopenia and predisposition to leukemia most often present with a lifelong history of thrombocytopenia, which is usually in the mild to moderate range. No syndromic features or associations are consistently shared across pedigrees. Affected individuals also have a moderate risk of developing a hematologic malignancy (with B-cell acute lymphoblastic leukemia [B-ALL] being the most common) and possibly other malignant solid tumors, particularly colorectal cancer. [from GeneReviews]

MedGen UID:
863974
Concept ID:
C4015537
Disease or Syndrome
3.

Agammaglobulinemia 8b, autosomal recessive

Autosomal recessive agammaglobulinemia-8B (AGM8B) is characterized by onset of recurrent infections in early childhood. Laboratory studies of affected individuals show decreased circulating immunoglobulins and decreased peripheral B cells. More variable features may include dysmorphic facies and subtle abnormalities of other immune cells, such as T cells. One patient who developed childhood B-cell acute lymphocytic leukemia (B-ALL) has been described (summary by Ben-Ali et al., 2017). [from OMIM]

MedGen UID:
1808468
Concept ID:
C5676958
Disease or Syndrome
4.

Precursor B-cell acute lymphoblastic leukemia

A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood. [from HPO]

MedGen UID:
83896
Concept ID:
C0349636
Neoplastic Process

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