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
Displaying entries 1 - 10 of 17 in total
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
Displaying entries 11 - 12 of 12 in total
UniProt ID Protein Name Source
Q16678 Cytochrome P450 1B1
Q9BXN2 C-type lectin domain family 7 member A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024