Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
6p22.3
THPM1 is an autosomal recessive trait associated with severe hematopoietic toxicity when patients are treated with standard doses of the antineoplastic agents 6-mercaptopurine (6MP) or 6-thioguanine (6TG), or the immunosuppressant azathioprine (AZA). [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610460.1 | Lebanon | Male | B Acute Lymphoblastic Leukemia B Acute Lymphoblastic Leukemia  | NM_000367.4:c.719A>G, NM_000367.4:c.460G>A | Heterozygous | Autosomal, Dominant | Zgheib et al. 2017 | |||
| 610460.2 | Lebanon | Female | T-cell acute lymphoblastic leukemias T-cell acute lymphoblastic leukemias | NM_000367.4:c.719A>G, NM_000367.4:c.460G>A | Heterozygous | Autosomal, Dominant | Zgheib et al. 2017 | |||
| 610460.3 | Lebanon | Male | B Acute Lymphoblastic Leukemia B Acute Lymphoblastic Leukemia | NM_000367.4:c.719A>G, NM_000367.4:c.460G>A | Heterozygous | Autosomal, Dominant | Zgheib et al. 2017 |