Phenotypic Series - PS242300
Ichthyosis, congenital, autosomal recessive - PS242300 - 15 Entries
| Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 2q35 | Ichthyosis, congenital, autosomal recessive 4B (harlequin) | AR | 3 | 242500 | ABCA12 | 607800 |
| 2q35 | Ichthyosis, congenital, autosomal recessive 4A | AR | 3 | 601277 | ABCA12 | 607800 |
| 5q33.3 | Ichthyosis, congenital, autosomal recessive 6 | AR | 3 | 612281 | NIPAL4 | 609383 |
| 6p21.31 | Ichthyosis, congenital, autosomal recessive 10 | AR | 3 | 615024 | PNPLA1 | 612121 |
| 10q23.31 | Ichthyosis, congenital, autosomal recessive 8 | AR | 3 | 613943 | LIPN | 613924 |
| 11q24.3 | Ichthyosis, congenital, autosomal recessive 11 | AR | 3 | 602400 | ST14 | 606797 |
| 12p11.2-q13.1 | Ichthyosis, congenital, autosomal recessive 7 | AR | 2 | 615022 | ARCI7 | 615022 |
| 12q13.3 | Ichthyosis, congenital, autosomal recessive 13 | AR | 3 | 617574 | SDR9C7 | 609769 |
| 14q12 | Ichthyosis, congenital, autosomal recessive 1 | AR | 3 | 242300 | TGM1 | 190195 |
| 15q26.3 | Ichthyosis, congenital, autosomal recessive 9 | AR | 3 | 615023 | CERS3 | 615276 |
| 17p13.1 | Ichthyosis, congenital, autosomal recessive 2 | AR | 3 | 242100 | ALOX12B | 603741 |
| 17p13.1 | Ichthyosis, congenital, autosomal recessive 3 | AR | 3 | 606545 | ALOXE3 | 607206 |
| 19p13.12 | Ichthyosis, congenital, autosomal recessive 12 | AR | 3 | 617320 | CASP14 | 605848 |
| 19p13.12 | Ichthyosis, congenital, autosomal recessive 5 | AR | 3 | 604777 | CYP4F22 | 611495 |
| 19q13.33 | Ichthyosis, congenital, autosomal recessive 14 | AR | 3 | 617571 | SULT2B1 | 604125 |
| 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 |