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 11 - 17 of 17 in total
Gene ID Gene Symbol Description Source
6441 SFTPD surfactant protein D
10998 SLC27A5 solute carrier family 27 member 5
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
50814 NSDHL NAD(P) dependent steroid dehydrogenase-like
64581 CLEC7A C-type lectin domain containing 7A
78989 COLEC11 collectin subfamily member 11
83666 PARP9 poly(ADP-ribose) polymerase family member 9
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