Case
SR65
Student Mode
Pseudoxanthoma Elasticum (IID2)
Female
Female
Hidden
SR65
Student Mode
Pseudoxanthoma Elasticum (IID2)
Female
Female
Pedigree
| Age at visit: 41 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 53 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 54 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 57 years |
| Age at visit: 58 years |
| Age at visit: 60 years |
| Age at visit: 64 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Pseudoxanthoma Elasticum | ABCC6 | Gly928 del4tacGGCA | IVS21+1 G>T | AR |
Disease:
Gene:
Allele 1:
Gly928 del4tacGGCA
Allele 2:
IVS21+1 G>T
Inheritance:
AR