NFJS
MCID: NGL001
MIFTS: 32

Naegeli-Franceschetti-Jadassohn Syndrome (NFJS)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Naegeli-Franceschetti-Jadassohn Syndrome

MalaCards integrated aliases for Naegeli-Franceschetti-Jadassohn Syndrome:

Name: Naegeli-Franceschetti-Jadassohn Syndrome 58 77 54 60 76 38 30 13 6
Naegeli Syndrome 58 54 60 76 41 74
Nfj Syndrome 58 54 60 76
Nfjs 58 54 76
Reticular Skin Changes, Dental Anomalies, Decreased Function of Sweat Glands, Strabismus, and Optic Atrophy 54

Characteristics:

Orphanet epidemiological data:

60
naegeli-franceschetti-jadassohn syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Miscellaneous:
heat intolerance
onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty

Inheritance:
autosomal dominant


HPO:

33
naegeli-franceschetti-jadassohn syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 161000
KEGG 38 H00708
ICD10 via Orphanet 35 Q82.4
UMLS via Orphanet 75 C0343111
Orphanet 60 ORPHA69087
MedGen 43 C0343111
UMLS 74 C0343111

Summaries for Naegeli-Franceschetti-Jadassohn Syndrome

NIH Rare Diseases : 54 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 naegeli-franceschetti-jadassohn syndrome/dermatopathia pigmentosa reticularis and adermatoglyphia. 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

UniProtKB/Swiss-Prot : 76 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 : 77 Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and... more...

Description from OMIM: 161000

Related Diseases for Naegeli-Franceschetti-Jadassohn Syndrome

Diseases related to Naegeli-Franceschetti-Jadassohn Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 naegeli-franceschetti-jadassohn syndrome/dermatopathia pigmentosa reticularis 13.0
2 adermatoglyphia 11.7
3 dermatopathia pigmentosa reticularis 10.7
4 anhidrosis 10.6
5 dyskeratosis congenita 10.0
6 microcephaly 10.0

Graphical network of the top 20 diseases related to Naegeli-Franceschetti-Jadassohn Syndrome:



Diseases related to Naegeli-Franceschetti-Jadassohn Syndrome

Symptoms & Phenotypes for Naegeli-Franceschetti-Jadassohn Syndrome

Human phenotypes related to Naegeli-Franceschetti-Jadassohn Syndrome:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of dental enamel 60 33 hallmark (90%) Very frequent (99-80%) HP:0000682
2 dystrophic toenail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001810
3 dystrophic fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0008391
4 ectodermal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000968
5 reticular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007588
6 diffuse palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007435
7 adermatoglyphia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007455
8 carious teeth 33 HP:0000670
9 palmoplantar keratoderma 33 HP:0000982
10 hypohidrosis 33 HP:0000966
11 premature loss of teeth 33 HP:0006480
12 fragile nails 33 HP:0001808
13 heat intolerance 33 HP:0002046

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
carious teeth
premature tooth loss
yellow discoloration

Skin Nails Hair Nails:
brittle nails
congenital malalignment of great toenails

Skin Nails Hair Skin:
palmoplantar keratoderma
hypohidrosis
reticulate hyperpigmentation (periocular, perioral, chest, neck, abdomen)
absent fingerprints
multiple, small punctate keratoses (palms and soles)

Clinical features from OMIM:

161000

Drugs & Therapeutics for Naegeli-Franceschetti-Jadassohn Syndrome

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

Genetic Tests for Naegeli-Franceschetti-Jadassohn Syndrome

Genetic tests related to Naegeli-Franceschetti-Jadassohn Syndrome:

# Genetic test Affiliating Genes
1 Naegeli-Franceschetti-Jadassohn Syndrome 30 KRT14

Anatomical Context for Naegeli-Franceschetti-Jadassohn Syndrome

MalaCards organs/tissues related to Naegeli-Franceschetti-Jadassohn Syndrome:

42
Skin

Publications for Naegeli-Franceschetti-Jadassohn Syndrome

Articles related to Naegeli-Franceschetti-Jadassohn Syndrome:

(show all 16)
# Title Authors Year
1
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: Intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant. ( 30968399 )
2019
2
Naegeli-Franceschetti-Jadassohn syndrome: A rare case. ( 26753140 )
2015
3
Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family. ( 24261749 )
2014
4
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity? ( 21252004 )
2011
5
A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome. ( 21734713 )
2011
6
Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome. ( 20587992 )
2010
7
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. ( 18049449 )
2008
8
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. ( 16960809 )
2006
9
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. ( 12230514 )
2002
10
The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. ( 10998145 )
2000
11
Reticulate pigmentary dermatosis associated with hypohydrosis and short stature: a variant of Naegeli-Franceschetti-Jadassohn syndrome? ( 7896482 )
1995
12
Reticular pigmented genodermatosis with milia--a special form of Naegeli-Franceschetti-Jadassohn syndrome or a new entity? ( 8548993 )
1995
13
Natural history of the Naegeli-Franceschetti-Jadassohn syndrome. ( 7929942 )
1994
14
Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. ( 8496458 )
1993
15
Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature. ( 939040 )
1976
16
[On incontinentia pigmenti and differentiation of two syndromes appearing under the same name]. ( 13141721 )
1954

Variations for Naegeli-Franceschetti-Jadassohn Syndrome

ClinVar genetic disease variations for Naegeli-Franceschetti-Jadassohn Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT14 NM_000526.4(KRT14): c.17delG (p.Arg6Profs) deletion Pathogenic rs267607390 GRCh37 Chromosome 17, 39743070: 39743070
2 KRT14 NM_000526.4(KRT14): c.17delG (p.Arg6Profs) deletion Pathogenic rs267607390 GRCh38 Chromosome 17, 41586818: 41586818
3 KRT14 NM_000526.4(KRT14): c.19C> T (p.Gln7Ter) single nucleotide variant Pathogenic rs267607391 GRCh37 Chromosome 17, 39743068: 39743068
4 KRT14 NM_000526.4(KRT14): c.19C> T (p.Gln7Ter) single nucleotide variant Pathogenic rs267607391 GRCh38 Chromosome 17, 41586816: 41586816

Expression for Naegeli-Franceschetti-Jadassohn Syndrome

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

Pathways for Naegeli-Franceschetti-Jadassohn Syndrome

Pathways related to Naegeli-Franceschetti-Jadassohn Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Estrogen signaling pathway hsa04915

Pathways related to Naegeli-Franceschetti-Jadassohn Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 KRT14 KRT24
2
Show member pathways
11.83 KRT14 KRT24
3
Show member pathways
11.08 KRT14 KRT24

GO Terms for Naegeli-Franceschetti-Jadassohn Syndrome

Cellular components related to Naegeli-Franceschetti-Jadassohn Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.62 KRT14 KRT24

Biological processes related to Naegeli-Franceschetti-Jadassohn Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 8.96 KRT14 KRT24
2 cornification GO:0070268 8.62 KRT14 KRT24

Sources for Naegeli-Franceschetti-Jadassohn Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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