Case
SR1899
Student Mode
Pseudoxanthoma Elasticum (IID2)
Male
Male
Hidden
SR1899
Student Mode
Pseudoxanthoma Elasticum (IID2)
Male
Male
History
This 51 year old man had fundus abnormalities noticed on an incidental eye exam at age 45.
Pedigree
| Age at visit: 61 years |
| Age at visit: 62 years (Visit 2) |
| Age at visit: 63 years (Visit 3) |
| Age at visit: 63 years (Visit 5) |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Pseudoxanthoma Elasticum | ABCC6 | Arg1141Stop CGA>TGA | Arg1398Stop CGA>TGA | AR |
Disease:
Gene:
Allele 1:
Arg1141Stop CGA>TGA
Allele 2:
Arg1398Stop CGA>TGA
Inheritance:
AR