Naegeli-franceschetti-jadassohn Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.

Genes related to Naegeli-franceschetti-jadassohn Syndrome

KRT14

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Naegeli-franceschetti-jadassohn Syndrome

Hyperhidrosis
Hyperkeratosis
Carious teeth
Palmoplantar keratoderma
Ectodermal dysplasia
Hypohidrosis
Hyperpigmentation of the skin
Abnormality of dental enamel
Palmoplantar hyperkeratosis
Premature loss of teeth

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME have a estimated prevalence of 0.035 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Naegeli-franceschetti-jadassohn Syndrome Is also known as nfj syndrome, naegeli syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Naegeli-franceschetti-jadassohn Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EBSeq Epidermolysis Bullosa Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...) View the complete list with 2 more genes Panel complete gene list DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC Specificity 5 % Genes 100 %
KRT14 Gene Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). KRT14 Specificity 100 % Genes 100 %
KRT14. By Institute for Human Genetics University Clinic Freiburg (Germany). KRT14 Specificity 100 % Genes 100 %
KRT14. Sequencing of the exons 1, 4 and 6. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KRT14 Specificity 100 % Genes 100 %
KRT14. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KRT14 Specificity 100 % Genes 100 %
KRT14. Sequencing of the exons 1, 4 and 6. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KRT14 Specificity 100 % Genes 100 %
KRT14. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KRT14 Specificity 100 % Genes 100 %
Epidermolysis bullosa simplex (sequence analysis of KRT14 gene). By CGC Genetics (Portugal). KRT14 Specificity 100 % Genes 100 %

You can get up to 31 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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