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hypomelanosis of Ito
Summary
- Synonym
-
- Bloch-Siemans syndrome
- Incontinentia pigmenti achromians syndrome
- Ito's nevus
- incontinentia pigmenti achromians
- nevus of Ito
- Definition
- A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation).
- Super Class
- skin disease
External Links
- Disease Ontology
- DOID:3156
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 952 | CD38 | CD38 molecule | |
| 1056 | CEL | carboxyl ester lipase | |
| 1118 | CHIT1 | chitinase 1 | |
| 1545 | CYP1B1 | cytochrome P450 family 1 subfamily B member 1 | |
| 1595 | CYP51A1 | cytochrome P450 family 51 subfamily A member 1 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 3554 | IL1R1 | interleukin 1 receptor type 1 | |
| 4350 | MPG | N-methylpurine DNA glycosylase | |
| 5648 | MASP1 | MBL associated serine protease 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16678 | Cytochrome P450 1B1 | |
| Q9BXN2 | C-type lectin domain family 7 member A |
