Details of Disease | DrugMAP

General Information of Disease (ID: DISQ95FU)

Disease Name	Netherton syndrome
Synonyms	neth; Comel-Netherton syndrome; erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE; Netherton disease; Netherton syndrome; bamboo hair syndrome; NS; Ichthyosis, Netherton Syndrome; Coml-Netherton syndrome
Definition	Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.
Disease Hierarchy	DIS6W0DT: Hyper-IgE syndrome DISB52BH: Eye disorder DIS6SVEE: Syndromic disease DISCPWH9: Autosomal recessive disease DISKGT16: Inherited ichthyosis DISQ95FU: Netherton syndrome
Disease Identifiers	MONDO ID MONDO_0009735 MESH ID D056770 UMLS CUI C5574950 OMIM ID 256500 MedGen ID 1802991 Orphanet ID 634 SNOMED CT ID 312514006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPINK5	OT61IIAO	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.