Details of Disease | DrugMAP

General Information of Disease (ID: DISQERK4)

Disease Name	Naegeli-Franceschetti-Jadassohn syndrome
Synonyms	NAEGELI-Franceschetti-Jadassohn syndrome; NAEGELI syndrome; Nfj syndrome; reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy; NFJS; NFJ syndrome; Naegeli-Franceschetti-Jadassohn syndrome; Naegeli syndrome
Definition	Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.
Disease Hierarchy	DISQ205R: Hyperpigmentation of the skin DIS6O9JS: Diffuse palmoplantar keratoderma DISLRS4M: Ectodermal dysplasia DISQERK4: Naegeli-Franceschetti-Jadassohn syndrome
Disease Identifiers	MONDO ID MONDO_0008059 MESH ID C538331 UMLS CUI C0343111 OMIM ID 161000 MedGen ID 91010 Orphanet ID 69087 SNOMED CT ID 239084001

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
KRT14	OTUVZ1DW	Strong	Autosomal dominant	[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.