|
Contracture of joint, ankle and foot
|
DISO:ICD9CM |
|
|
Increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6MP), 6-thioguanine (6TG), and azathioprine (AZA)
|
DISO:OMIM |
|
|
5-10% of patients have a first degree relative with IBD (Crohn or ulcerative colitis)
|
DISO:OMIM |
|
|
Variable age at onset (range infancy to 30 years)
|
DISO:OMIM |
|
|
(4) Thiamine-responsive form
|
DISO:OMIM |
|
|
Decreased activity of thiopurine S-methyltransferase
|
DISO:OMIM |
|
|
Caused by mutation in the 3-prime repair exonuclease 1 gene (TREX1, 606609.0001)
|
DISO:OMIM |
|
|
Benign tumors of the eye, heart, and lungs
|
DISO:OMIM |
|
