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 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

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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Ectodermal dysplasia (anhidrotic)

Orphanet: ⁵⁹

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 161000

Orphanet ⁵⁹ ORPHA69087

ICD10 via Orphanet ³⁴ Q82.4

UMLS via Orphanet ⁷⁴ C0343111

MedGen ⁴² C0343111

MeSH ⁴⁴ D004476 D007007 D007645

KEGG ³⁷ H00708

SNOMED-CT via HPO ⁶⁹ 263681008 80967001 45004005 more

UMLS ⁷³ C0343111

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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 Circadian entrainment and Keratinization. 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

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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	12.8
2	adermatoglyphia	11.5
3	dermatopathia pigmentosa reticularis	10.4
4	ectodermal dysplasia	10.4
5	hypohidrosis	10.4

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

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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

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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 ²⁹	KRT14

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Anatomical Context for Naegeli-Franceschetti-Jadassohn Syndrome

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

⁴¹

Skin

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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 )	Shah B.J....Dhamale S.S.	2015
2	Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family. ( 24261749 )	Tubaigy S.M....Hassan H.M.	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 )	Titeux M....Hovnanian A.	2011
4	Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome. ( 20587992 )	Itin P.H....Burger B.	2010
5	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
6	Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. ( 16960809 )	Lugassy J....Sprecher E.	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 )	Sprecher E....Richard G.	2002
8	The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. ( 10998145 )	Whittock N.V....McGrath J.A.	2000
9	Reticulate pigmentary dermatosis associated with hypohydrosis and short stature: a variant of Naegeli-Franceschetti-Jadassohn syndrome? ( 7896482 )	Kudo Y....Ogawa A.	1995
10	Reticular pigmented genodermatosis with milia--a special form of Naegeli-Franceschetti-Jadassohn syndrome or a new entity? ( 8548993 )	Tzermias C....Hatzis I.	1995
11	Natural history of the Naegeli-Franceschetti-Jadassohn syndrome. ( 7929942 )	Papini M.	1994
12	Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. ( 8496458 )	Itin P.H....Rufli T.	1993
13	Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature. ( 939040 )	Sparrow G.P....Wells R.S.	1976

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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	1378.83	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications (show sections)	13141721 16960809 8496458
2	KRT24	Keratin 24	Protein Coding	17.98	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	KRT14, 1-BP DEL, 17G	deletion	Pathogenic
2	KRT14	KRT14, GLN7TER	single nucleotide variant	Pathogenic

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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 GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Circadian entrainment ³⁷ Show member pathways Cholinergic synapse ³⁷ Dopaminergic synapse ³⁷ Estrogen signaling pathway ³⁷ Glutamatergic synapse ³⁷ Relaxin receptors ⁶⁶ Relaxin signaling pathway ³⁷ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁵	11.83	KRT14 KRT24
2	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	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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