NFJS
MCID: NGL001
MIFTS: 37

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 57 12 73 20 58 72 36 29 13 6 15
Naegeli Syndrome 57 12 20 58 72 44 39 70
Nfj Syndrome 57 12 20 58 72
Nfjs 57 20 72
Reticular Skin Changes, Dental Anomalies, Decreased Function of Sweat Glands, Strabismus, and Optic Atrophy 20

Characteristics:

Orphanet epidemiological data:

58
naegeli-franceschetti-jadassohn syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
heat intolerance
onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty

Inheritance:
autosomal dominant


HPO:

31
naegeli-franceschetti-jadassohn syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111528
OMIM® 57 161000
KEGG 36 H00708
SNOMED-CT 67 239084001
ICD10 via Orphanet 33 Q82.4
UMLS via Orphanet 71 C0343111
Orphanet 58 ORPHA69087
MedGen 41 C0343111
UMLS 70 C0343111

Summaries for Naegeli-Franceschetti-Jadassohn Syndrome

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

Related Diseases for Naegeli-Franceschetti-Jadassohn Syndrome

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 adermatoglyphia 32.2 SMARCAD1 KRT14
2 keratosis 30.6 KRT86 KRT14
3 epidermolysis bullosa simplex with mottled pigmentation 30.4 KRT86 KRT14
4 alopecia 30.2 KRT86 KRT83 KRT14
5 naegeli-franceschetti-jadassohn syndrome/dermatopathia pigmentosa reticularis 11.9
6 dowling-degos disease 1 10.7
7 ectodermal dysplasia 10.7
8 dermatopathia pigmentosa reticularis 10.7
9 anhidrosis 10.7
10 palmoplantar keratosis 10.6
11 epidermolysis bullosa simplex 10.5
12 diffuse alopecia areata 10.3
13 epidermolysis bullosa 10.3
14 erythrokeratoderma ''en cocardes'' 10.3
15 diffuse palmoplantar keratoderma 10.3
16 hyperpigmentation of the skin 10.3
17 atrichia with papular lesions 10.0 KRT86 KRT83
18 palmoplantar keratoderma, epidermolytic 10.0 KRT86 KRT14
19 woolly hair, autosomal dominant 9.9 KRT85 KRT25
20 microcephaly 9.9
21 dyskeratosis congenita 9.9
22 leukoplakia 9.9
23 hair disease 9.9 KRT86 KRT83 KRT14
24 hypotrichosis 6 9.9 KRT86 KRT85 KRT83
25 pachyonychia congenita 1 9.8 KRT86 KRT14
26 hypotrichosis 8 9.8 KRT85 KRT83 KRT25
27 epidermolytic hyperkeratosis 9.7 KRT86 KRT25 KRT14
28 hypotrichosis 9.7 KRT86 KRT83 KRT25
29 ectodermal dysplasia 4, hair/nail type 9.7 KRT86 KRT85 KRT83 KRT24
30 familial woolly hair syndrome 9.5 KRT86 KRT85 KRT83 KRT25
31 monilethrix 8.4 LINC00708 KRT86 KRT85 KRT84 KRT83 KRT82

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:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
2 dystrophic toenail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001810
3 dystrophic fingernails 58 31 hallmark (90%) Very frequent (99-80%) HP:0008391
4 ectodermal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000968
5 diffuse palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007435
6 adermatoglyphia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007455
7 reticular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007588
8 carious teeth 31 HP:0000670
9 palmoplantar keratoderma 31 HP:0000982
10 hypohidrosis 31 HP:0000966
11 fragile nails 31 HP:0001808
12 premature loss of teeth 31 HP:0006480
13 heat intolerance 31 HP:0002046

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Naegeli-Franceschetti-Jadassohn Syndrome

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

Cochrane evidence based reviews: naegeli 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 29 KRT14

Anatomical Context for Naegeli-Franceschetti-Jadassohn Syndrome

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

40
Skin

Publications for Naegeli-Franceschetti-Jadassohn Syndrome

Articles related to Naegeli-Franceschetti-Jadassohn Syndrome:

(show all 24)
# Title Authors PMID Year
1
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. 61 6 57
16960809 2006
2
Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. 6 57 61
8496458 1993
3
[On incontinentia pigmenti and differentiation of two syndromes appearing under the same name]. 6 57
13141721 1954
4
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. 61 57
12230514 2002
5
The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. 57 61
10998145 2000
6
Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature. 61 57
939040 1976
7
[Incontinentia pigmenti: dysplastic & pigmentary functional perspiratory disorders in ancestry]. 57
13670508 1959
8
[Two Japanese cases of a peculiar reticulous pigmentation]. 57
14379757 1955
9
Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome. 61
32282935 2020
10
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant. 61
30968399 2019
11
Naegeli-Franceschetti-Jadassohn Syndrome: A Rare Reticulate Pigmentary Disorder. 61
31148864 2019
12
Naegeli-Franceschetti-Jadassohn syndrome: A rare case. 61
26753140 2015
13
Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family. 61
24261749 2014
14
A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome. 61
21734713 2011
15
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity? 61
21252004 2011
16
Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome. 61
20587992 2010
17
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. 61
18049449 2008
18
[Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis. Two allelic ectodermal dysplasias related to mutations of dominant gene coding for keratin 14]. 61
17657198 2007
19
Segmental forms of autosomal dominant skin disorders: the puzzle of mosaicism. 61
10398258 1999
20
Genodermatosis with reticulate, patchy and mottled pigmentation of the neck--a clue to rare dermatologic disorders. 61
9812038 1998
21
Reticulate hyperpigmentation. 61
9125768 1997
22
Reticular pigmented genodermatosis with milia--a special form of Naegeli-Franceschetti-Jadassohn syndrome or a new entity? 61
8548993 1995
23
Reticulate pigmentary dermatosis associated with hypohydrosis and short stature: a variant of Naegeli-Franceschetti-Jadassohn syndrome? 61
7896482 1995
24
Natural history of the Naegeli-Franceschetti-Jadassohn syndrome. 61
7929942 1994

Variations for Naegeli-Franceschetti-Jadassohn Syndrome

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT14 NM_000526.5(KRT14):c.17del (p.Arg6fs) Deletion Pathogenic 66329 rs267607390 GRCh37: 17:39743070-39743070
GRCh38: 17:41586818-41586818
2 KRT14 NM_000526.5(KRT14):c.19C>T (p.Gln7Ter) SNV Pathogenic 66333 rs267607391 GRCh37: 17:39743068-39743068
GRCh38: 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:

36
# 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
12.77 KRT86 KRT85 KRT84 KRT83 KRT82 KRT25
2
Show member pathways
11.68 KRT86 KRT85 KRT84 KRT83 KRT82 KRT25
3 11.57 KRT25 KRT24 KRT14
4 11.31 KRT25 KRT24 KRT14

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 cytosol GO:0005829 9.76 KRT86 KRT85 KRT84 KRT83 KRT82 KRT25
2 keratin filament GO:0045095 9.43 KRT86 KRT85 KRT84 KRT83 KRT82 KRT14
3 intermediate filament GO:0005882 9.23 KRT86 KRT85 KRT84 KRT83 KRT82 KRT25

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 9.56 KRT86 KRT85 KRT84 KRT83 KRT82 KRT25
2 aging GO:0007568 9.5 KRT83 KRT25 KRT14
3 epidermis development GO:0008544 9.43 KRT85 KRT83 KRT14
4 hair cycle GO:0042633 9.33 KRT83 KRT25 KRT14
5 cornification GO:0070268 9.23 KRT86 KRT85 KRT84 KRT83 KRT82 KRT25

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.16 KRT84 KRT14
2 structural constituent of epidermis GO:0030280 8.96 KRT84 KRT82
3 structural molecule activity GO:0005198 8.92 KRT85 KRT25 KRT24 KRT14

Sources for Naegeli-Franceschetti-Jadassohn Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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