NFJS
MCID: NGL001
MIFTS: 40

Naegeli-Franceschetti-Jadassohn Syndrome (NFJS)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Naegeli-Franceschetti-Jadassohn Syndrome

MalaCards integrated aliases for Naegeli-Franceschetti-Jadassohn Syndrome:

Name: Naegeli-Franceschetti-Jadassohn Syndrome 57 11 19 42 58 75 73 28 12 5 14 38
Naegeli Syndrome 57 11 19 42 58 73 43 71
Nfj Syndrome 57 11 19 42 58 73
Nfjs 57 19 42 73
Reticular Skin Changes, Dental Anomalies, Decreased Function of Sweat Glands, Strabismus, and Optic Atrophy 19
Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis 42
Franceschetti-Jadassohn Syndrome 42
Nfjs/dpr 42
Dpr 42

Characteristics:


Inheritance:

Autosomal dominant 58 57

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
heat intolerance
onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Naegeli-Franceschetti-Jadassohn Syndrome

MedlinePlus Genetics: 42 Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder.Among the most common signs of NFJS/DPR is a net-like pattern of dark brown or gray skin coloring, known as reticulate hyperpigmentation. This darker pigmentation is seen most often on the neck, chest, and abdomen, although it can also occur in and around the eyes and mouth. Reticulate hyperpigmentation appears in infancy or early childhood. It may fade with age or persist throughout life.NFJS/DPR also affects the skin on the hands and feet. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Some affected individuals also have blistering on their palms and soles. Their fingernails and toenails may be malformed, brittle, and either thicker or thinner than usual. Most affected individuals are missing the patterned ridges on the skin of the hands and feet, called dermatoglyphs, that are the basis for each person's unique fingerprints.Additional features of NFJS/DPR can include a reduced ability to sweat (hypohidrosis) or excess sweating (hyperhidrosis) and dental abnormalities. Some affected individuals also have hair loss (alopecia) on the scalp, eyebrows, and underarms. The alopecia is described as noncicatricial because it does not leave scars (cicatrices).

MalaCards based summary: Naegeli-Franceschetti-Jadassohn Syndrome, also known as naegeli syndrome, is related to ectodermal dysplasia and dermatopathia pigmentosa reticularis. An important gene associated with Naegeli-Franceschetti-Jadassohn Syndrome is KRT14 (Keratin 14), and among its related pathways/superpathways are Nervous system development and Keratinization. Affiliated tissues include skin, and related phenotypes are reticulated skin pigmentation and adermatoglyphia

GARD: 19 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 genetic changes in the KRT14 gene and inherited in an autosomal dominant manner.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Orphanet: 58 Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.

Wikipedia: 75 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 top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 30.9 KRT85 KRT74 KRT14
2 dermatopathia pigmentosa reticularis 30.6 KRT86 KRT85 KRT83 KRT24 KRT14
3 epidermolysis bullosa simplex 30.6 KRT6B KRT14
4 alopecia 30.4 KRT86 KRT83 KRT14
5 epidermolysis bullosa simplex 2f, with mottled pigmentation 30.2 KRT86 KRT14
6 adermatoglyphia 11.6
7 anhidrosis 10.7
8 palmoplantar keratosis 10.7
9 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
10 epidermolysis bullosa 10.3
11 skin disease 10.3
12 alopecia areata 10.3
13 erythrokeratoderma ''en cocardes'' 10.3
14 diffuse palmoplantar keratoderma 10.3
15 hyperpigmentation of the skin 10.3
16 iron metabolism disease 10.2
17 keratosis 10.1 KRT86 KRT14
18 amyotrophic lateral sclerosis 1 10.0
19 pachyonychia congenita 3 10.0
20 dental caries 10.0
21 lateral sclerosis 10.0
22 turner syndrome 10.0
23 chronic bilirubin encephalopathy 10.0
24 dyskeratosis congenita 9.9
25 leukoplakia 9.9
26 ectodermal dysplasia 6, hair/nail type 9.9 KRT85 KRT74
27 ectodermal dysplasia 5, hair/nail type 9.9 KRT85 KRT74
28 ectodermal dysplasia 9, hair/nail type 9.9 KRT85 KRT74
29 ectodermal dysplasia 7, hair/nail type 9.9 KRT85 KRT74
30 palmoplantar keratoderma, nonepidermolytic, focal 1 9.9 KRT82 KRT6B
31 colorectal cancer 9.9
32 cleft palate, isolated 9.9
33 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 9.9
34 hypercholesterolemia, familial, 1 9.9
35 ovarian cancer 9.9
36 tobacco addiction 9.9
37 gastroschisis 9.9
38 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
39 reticulum cell sarcoma 9.9
40 frontotemporal dementia 9.9
41 ovarian cancer 1 9.9
42 malaria 9.9
43 encephalitis/encephalopathy, mild, with reversible myelin vacuolization 9.9
44 limb ischemia 9.9
45 omphalocele 9.9
46 middle east respiratory syndrome 9.9
47 microphthalmia 9.9
48 microcephaly 9.9
49 gastric antral vascular ectasia 9.9
50 interdigitating dendritic cell sarcoma 9.9

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 30 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reticulated skin pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007427
2 adermatoglyphia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007455
3 dry skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000958
4 hypohidrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000966
5 abnormality of dental morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0006482
6 subungual hyperkeratosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0008392
7 fragile nails 58 30 Frequent (33%) Frequent (79-30%)
HP:0001808
8 heat intolerance 58 30 Frequent (33%) Frequent (79-30%)
HP:0002046
9 malalignment of the great toenail 58 30 Frequent (33%) Frequent (79-30%)
HP:0031282
10 decreased number of sweat glands 58 30 Frequent (33%) Frequent (79-30%)
HP:0007500
11 carious teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000670
12 hypopigmentation of the skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001010
13 interphalangeal joint contracture of finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001220
14 dystrophic toenail 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001810
15 milia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001056
16 anhidrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000970
17 premature loss of teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006480
18 yellow-brown discoloration of the teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006286
19 onycholysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001806
20 generalized reticulate brown pigmentation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007599
21 acral blistering 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031045
22 swelling of proximal interphalangeal joints 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006253
23 punctate palmoplantar hyperkeratosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007530
24 hyperpigmentation in sun-exposed areas 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005586
25 enamel hypoplasia 30 Occasional (7.5%) HP:0006297
26 supernumerary tooth 30 Occasional (7.5%) HP:0011069
27 abnormality of the dentition 58 Frequent (79-30%)
28 palmoplantar keratoderma 30 HP:0000982
29 increased number of teeth 58 Occasional (29-5%)
30 nail dystrophy 58 Frequent (79-30%)
31 flexion contracture of finger 58 Occasional (29-5%)
32 hypoplasia of dental enamel 58 Occasional (29-5%)
33 palmoplantar hyperkeratosis 58 Occasional (29-5%)
34 reticular hyperpigmentation 30 HP:0007588

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 28 KRT14

Anatomical Context for Naegeli-Franceschetti-Jadassohn Syndrome

Organs/tissues related to Naegeli-Franceschetti-Jadassohn Syndrome:

MalaCards : Skin

Publications for Naegeli-Franceschetti-Jadassohn Syndrome

Articles related to Naegeli-Franceschetti-Jadassohn Syndrome:

(show all 28)
# Title Authors PMID Year
1
Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. 62 57 5
8496458 1993
2
[On incontinentia pigmenti and differentiation of two syndromes appearing under the same name]. 57 5
13141721 1954
3
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. 62 57
16960809 2006
4
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. 62 57
12230514 2002
5
The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. 62 57
10998145 2000
6
Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature. 62 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. 62
32282935 2020
10
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant. 62
30968399 2019
11
Naegeli-Franceschetti-Jadassohn Syndrome: A Rare Reticulate Pigmentary Disorder. 62
31148864 2019
12
Naegeli-Franceschetti-Jadassohn syndrome: A rare case. 62
26753140 2015
13
Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family. 62
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. 62
21734713 2011
15
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity? 62
21252004 2011
16
Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome. 62
20587992 2010
17
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. 62
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]. 62
17657198 2007
19
Segmental forms of autosomal dominant skin disorders: the puzzle of mosaicism. 62
10398258 1999
20
Genodermatosis with reticulate, patchy and mottled pigmentation of the neck--a clue to rare dermatologic disorders. 62
9812038 1998
21
Reticulate hyperpigmentation. 62
9125768 1997
22
Reticular pigmented genodermatosis with milia--a special form of Naegeli-Franceschetti-Jadassohn syndrome or a new entity? 62
8548993 1995
23
Reticulate pigmentary dermatosis associated with hypohydrosis and short stature: a variant of Naegeli-Franceschetti-Jadassohn syndrome? 62
7896482 1995
24
Natural history of the Naegeli-Franceschetti-Jadassohn syndrome. 62
7929942 1994
25
Sweat studies under conditions of moderate heat stress in two patients with the Nägeli-Franceschetti-Jadassohn syndrome. 62
8219418 1993
26
The Nägeli-Franceschetti-Jadassohn syndrome: A hereditary ectodermal defect leading to colloid-amyloid formation in the dermis. 62
8219417 1993
27
Congenital poikiloderma with traumatic bulla formation, anhidrosisi, and keratoderma. 62
92149 1979
28
[Reticular pigmentary dermatitis of Franceschetti-Jadassohn syndrome. Case report]. 62
5110058 1971

Variations for Naegeli-Franceschetti-Jadassohn Syndrome

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT14 NM_000526.5(KRT14):c.17del (p.Arg6fs) DEL 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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 KRT86 KRT85 KRT84 KRT83 KRT82 KRT74
2
Show member pathways
11.86 KRT86 KRT85 KRT84 KRT83 KRT82 KRT74

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 10.16 KRT86 KRT85 KRT84 KRT83 KRT82 KRT74
2 intermediate filament GO:0005882 9.73 KRT14 KRT24 KRT25 KRT6B KRT74 KRT82
3 keratin filament GO:0045095 9.58 KRT14 KRT25 KRT6B KRT74 KRT82 KRT83

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

# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.8 KRT83 KRT25 KRT14
2 keratinization GO:0031424 9.8 KRT6B KRT74 KRT82 KRT83 KRT84 KRT85
3 epidermis development GO:0008544 9.73 KRT85 KRT83 KRT14
4 hair cycle GO:0042633 9.63 KRT83 KRT25 KRT14
5 intermediate filament organization GO:0045109 9.58 KRT86 KRT85 KRT84 KRT83 KRT82 KRT74

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 9.73 KRT84 KRT6B KRT14
2 structural molecule activity GO:0005198 9.5 KRT85 KRT25 KRT24 KRT14
3 structural constituent of skin epidermis GO:0030280 9.47 KRT86 KRT85 KRT84 KRT83 KRT82 KRT74
4 keratin filament binding GO:1990254 9.46 KRT74 KRT14

Sources for Naegeli-Franceschetti-Jadassohn Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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