Naegeli-Franceschetti-Jadassohn Syndrome (NFJS)

External Ids:

Disease Ontology 12 DOID:0111528 OMIM® 57 161000 KEGG 36 H00708 MeSH 44 C538331 D004476 D007007 D007645 more SNOMED-CT 67 239084001 ICD10 via Orphanet 33 Q82.4

UMLS via Orphanet 71 C0343111 Orphanet 58 ORPHA69087 MedGen 41 C0343111 SNOMED-CT via HPO 68 234974002 254154003 263681008 400123002 42756003 45004005 69215007 706885006 80967001 8654005 more UMLS 70 C0343111

GARD : ²⁰ Naegeli syndrome belongs to a group of disorders known as ectodermal dysplasias. This condition is characterized by absent fingerprints, thickening of the palms and soles ( palmoplantar keratoderma ), decreased sweating ( hypohidrosis ), heat intolerance, patches of darker (hyperpigmented) skin, brittle nails, abnormally colored teeth, and early tooth loss. Naegeli syndrome is caused by mutations in the KRT14 gene and inherited in an autosomal dominant manner. While there is no cure for Naegeli syndrome, treatment is based on each individual's symptoms.

MalaCards based summary : Naegeli-Franceschetti-Jadassohn Syndrome, also known as naegeli syndrome, is related to adermatoglyphia and keratosis. An important gene associated with Naegeli-Franceschetti-Jadassohn Syndrome is KRT14 (Keratin 14), and among its related pathways/superpathways are Estrogen signaling pathway and Developmental Biology. Affiliated tissues include skin, and related phenotypes are abnormality of dental enamel and dystrophic toenail

Disease Ontology : ¹² A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has material basis in heterozygous mutation in KRT14 on chromosome 17q21.2.

KEGG : ³⁶ Naegeli-Franceschetti-Jadassohn syndrome (NFJ) is a rare autosomal dominant disorder characterized by complete absence of dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma, and decreased sweating. Enamel defects and nail dystrophy have been observed in some patients. Decreased expression of keratin 14 in this disorder sensitizes the keratinocytes to TNF-alpha-induced apoptosis.

UniProtKB/Swiss-Prot : ⁷² Naegeli-Franceschetti-Jadassohn syndrome: A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects.

Wikipedia : ⁷³ Naegeli-Franceschetti-Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and... more...

More information from OMIM: 161000

Clinical features from OMIM®:

161000 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Naegeli-Franceschetti-Jadassohn Syndrome

Search GEO for disease gene expression data for Naegeli-Franceschetti-Jadassohn Syndrome.