Phenotypic Series - PS179850
Reticulate pigment disorders - PS179850 - 6 Entries
| Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 1q21.3 | Dyschromatosis symmetrica hereditaria | AD | 3 | 127400 | ADAR | 146920 |
| 3q13.33 | Dowling-Degos disease 4 | AD | 3 | 615696 | POGLUT1 | 615618 |
| 12q13.13 | Dowling-Degos disease 1 | AD | 3 | 179850 | KRT5 | 148040 |
| 15q21.3 | Reticulate acropigmentation of Kitamura | AD | 3 | 615537 | ADAM10 | 602192 |
| 17p13.3 | Dowling-Degos disease 3 | AD | 2 | 615674 | DDD3 | 615674 |
| 20q11.21 | Dowling-Degos disease 2 | AD | 3 | 615327 | POFUT1 | 607491 |
| Phenotype Mapping Key |
|---|
| 1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known. |
| 2 - The disorder was placed on the map by statistical methods. |
| 3 - The molecular basis of the disorder is known. |
| 4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved. |
| Inheritance Abbreviations | |
|---|---|
| ?AD | ?Autosomal dominant |
| ?XLR | ?X-linked recessive |
| AD | Autosomal dominant |
| AR | Autosomal recessive |
| PD | Pseudoautosomal dominant |
| PR | Pseudoautosomal recessive |
| DD | Digenic dominant |
| DR | Digenic recessive |
| ICB | Inherited chromosomal imbalance |
| IC | Isolated cases |
| Mi | Mitochondrial |
| Mu | Multifactorial |
| SMo | Somatic mosaicism |
| SMu | Somatic mutation |
| XL | X-linked |
| XLD | X-linked dominant |
| XLR | X-linked recessive |
| YL | Y-linked |