Netherton syndrome

Summary
Definition
A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin.
Super Class
autosomal recessive disease skin disease
Disease Ontology
DOID:0050474
Mondo Disease Ontology
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2629 GBA1 glucosylceramidase beta 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14466 Gba1 glucosylceramidase beta 1
72432 Spink5 serine peptidase inhibitor, Kazal type 5
Displaying all 2 entries
Gene ID Gene Symbol Description Source
177314 gba-4 Putative glucosylceramidase 4
178535 gba-3 Putative glucosylceramidase 3

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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: December 9, 2024