Naegeli-Franceschetti-Jadassohn Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Ectodermal dysplasia (anhidrotic)

Orphanet: ⁶⁰

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 161000

KEGG ³⁸ H00708

MeSH ⁴⁵ D004476 D007007 D007645

ICD10 via Orphanet ³⁵ Q82.4

UMLS via Orphanet ⁷⁵ C0343111

Orphanet ⁶⁰ ORPHA69087

MedGen ⁴³ C0343111

SNOMED-CT via HPO ⁷⁰ 234974002 254154003 263681008 more

UMLS ⁷⁴ C0343111

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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

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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
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:

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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

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Drugs & Therapeutics for Naegeli-Franceschetti-Jadassohn Syndrome

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

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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

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Anatomical Context for Naegeli-Franceschetti-Jadassohn Syndrome

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

⁴²

Skin

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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 )	Burger B...Itin PH	2019
2	Naegeli-Franceschetti-Jadassohn syndrome: A rare case. ( 26753140 )	Shah BJ...Dhamale SS	2015
3	Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family. ( 24261749 )	Tubaigy SM...Hassan HM	2014
4	Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity? ( 21252004 )	Belligni EF...Hennekam RC	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 )	Titeux M...Hovnanian A	2011
6	Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome. ( 20587992 )	Itin PH...Burger B	2010
7	KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. ( 18049449 )	Lugassy J...Sprecher E	2008
8	Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. ( 16960809 )	Lugassy J...Sprecher E	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 )	Sprecher E...Richard G	2002
10	The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. ( 10998145 )	Whittock NV...McGrath JA	2000
11	Reticulate pigmentary dermatosis associated with hypohydrosis and short stature: a variant of Naegeli-Franceschetti-Jadassohn syndrome? ( 7896482 )	Kudo Y...Ogawa A	1995
12	Reticular pigmented genodermatosis with milia--a special form of Naegeli-Franceschetti-Jadassohn syndrome or a new entity? ( 8548993 )	Tzermias C...Hatzis I	1995
13	Natural history of the Naegeli-Franceschetti-Jadassohn syndrome. ( 7929942 )	Papini M	1994
14	Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. ( 8496458 )	Itin PH...Rufli T	1993
15	Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature. ( 939040 )	Sparrow GP...Wells RS	1976
16	[On incontinentia pigmenti and differentiation of two syndromes appearing under the same name]. ( 13141721 )	FRANCESCHETTI A...JADASSOHN W	1954

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Genes for Naegeli-Franceschetti-Jadassohn Syndrome

Genes related to Naegeli-Franceschetti-Jadassohn Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KRT14	Keratin 14	Protein Coding	1378.68	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Publications (show sections)	13141721 16960809 8496458
2	KRT24	Keratin 24	Protein Coding	17.9	GeneCards inferred via : Publications (show sections)

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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

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Expression for Naegeli-Franceschetti-Jadassohn Syndrome

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

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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	Developmental Biology ⁶⁷ Show member pathways Axon guidance ⁶⁷	12.37	KRT14 KRT24
2	Circadian entrainment ³⁸ Show member pathways Cholinergic synapse ³⁸ Dopaminergic synapse ³⁸ Estrogen signaling pathway ³⁸ Glutamatergic synapse ³⁸ Relaxin receptors ⁶⁷ Relaxin signaling pathway ³⁸ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁶	11.83	KRT14 KRT24
3	Keratinization ⁶⁷ Show member pathways Formation of the cornified envelope ⁶⁷	11.08	KRT14 KRT24

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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

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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Naegeli-Franceschetti-Jadassohn Syndrome (NFJS)

Aliases & Classifications for Naegeli-Franceschetti-Jadassohn Syndrome

MalaCards integrated aliases for Naegeli-Franceschetti-Jadassohn Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Naegeli-Franceschetti-Jadassohn Syndrome

Related Diseases for Naegeli-Franceschetti-Jadassohn Syndrome

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

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

Symptoms & Phenotypes for Naegeli-Franceschetti-Jadassohn Syndrome

Human phenotypes related to Naegeli-Franceschetti-Jadassohn Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Naegeli-Franceschetti-Jadassohn Syndrome

Genetic Tests for Naegeli-Franceschetti-Jadassohn Syndrome

Genetic tests related to Naegeli-Franceschetti-Jadassohn Syndrome:

Anatomical Context for Naegeli-Franceschetti-Jadassohn Syndrome

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

Publications for Naegeli-Franceschetti-Jadassohn Syndrome

Articles related to Naegeli-Franceschetti-Jadassohn Syndrome:

Genes for Naegeli-Franceschetti-Jadassohn Syndrome

Genes related to Naegeli-Franceschetti-Jadassohn Syndrome (1 elite genes):

Variations for Naegeli-Franceschetti-Jadassohn Syndrome

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

Expression for Naegeli-Franceschetti-Jadassohn Syndrome

Pathways for Naegeli-Franceschetti-Jadassohn Syndrome

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

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

GO Terms for Naegeli-Franceschetti-Jadassohn Syndrome

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

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

Sources for Naegeli-Franceschetti-Jadassohn Syndrome