NFJS
MCID: NGL001
MIFTS: 33

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 53 59 75 37 29 13 6
Naegeli Syndrome 57 53 59 75 40 73
Nfj Syndrome 57 53 59 75
Nfjs 57 53 75
Reticular Skin Changes, Dental Anomalies, Decreased Function of Sweat Glands, Strabismus, and Optic Atrophy 53
Naegelifranceschettijadassohn Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
naegeli-franceschetti-jadassohn syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

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

Inheritance:
autosomal dominant


HPO:

32
naegeli-franceschetti-jadassohn syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 161000
Orphanet 59 ORPHA69087
ICD10 via Orphanet 34 Q82.4
UMLS via Orphanet 74 C0343111
MedGen 42 C0343111
KEGG 37 H00708
UMLS 73 C0343111

Summaries for Naegeli-Franceschetti-Jadassohn Syndrome

NIH Rare Diseases : 53 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 Developmental Biology and Circadian entrainment. Affiliated tissues include skin, and related phenotypes are abnormality of dental enamel and dystrophic toenail

UniProtKB/Swiss-Prot : 75 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 : 76 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 12.9
2 adermatoglyphia 11.6
3 dermatopathia pigmentosa reticularis 10.5
4 hypohidrosis 10.5
5 microcephaly 10.0
6 dyskeratosis congenita 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Naegeli-Franceschetti-Jadassohn Syndrome:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
2 dystrophic toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001810
3 dystrophic fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0008391
4 ectodermal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000968
5 reticular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007588
6 diffuse palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007435
7 adermatoglyphia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007455
8 carious teeth 32 HP:0000670
9 palmoplantar keratoderma 32 HP:0000982
10 hypohidrosis 32 HP:0000966
11 fragile nails 32 HP:0001808
12 heat intolerance 32 HP:0002046
13 premature loss of teeth 32 HP:0006480

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 29 KRT14

Anatomical Context for Naegeli-Franceschetti-Jadassohn Syndrome

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

41
Skin

Publications for Naegeli-Franceschetti-Jadassohn Syndrome

Articles related to Naegeli-Franceschetti-Jadassohn Syndrome:

(show all 13)
# Title Authors Year
1
Naegeli-Franceschetti-Jadassohn syndrome: A rare case. ( 26753140 )
2015
2
Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family. ( 24261749 )
2014
3
A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome. ( 21734713 )
2011
4
Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome. ( 20587992 )
2010
5
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. ( 18049449 )
2008
6
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. ( 16960809 )
2006
7
Refined mapping of Naegeli-Franceschetti-Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. ( 12230514 )
2002
8
The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. ( 10998145 )
2000
9
Reticulate pigmentary dermatosis associated with hypohydrosis and short stature: a variant of Naegeli-Franceschetti-Jadassohn syndrome? ( 7896482 )
1995
10
Reticular pigmented genodermatosis with milia--a special form of Naegeli-Franceschetti-Jadassohn syndrome or a new entity? ( 8548993 )
1995
11
Natural history of the Naegeli-Franceschetti-Jadassohn syndrome. ( 7929942 )
1994
12
Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. ( 8496458 )
1993
13
Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature. ( 939040 )
1976

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 KRT14, 1-BP DEL, 17G deletion Pathogenic
2 KRT14 KRT14, GLN7TER single nucleotide variant Pathogenic

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 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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