MCID: NGL003
MIFTS: 11

Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis

Categories: Skin diseases

Aliases & Classifications for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

MalaCards integrated aliases for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis:

Name: Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis 24
Naegeli Syndrome 24 69
Naegeli-Franceschetti-Jadassohn Syndrome 24
Franceschetti-Jadassohn Syndrome 24
Nfj Syndrome 24
Nfjs/dpr 24
Nfjs 24
Dpr 24

Classifications:



External Ids:

UMLS 69 C0343111

Summaries for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Genetics Home Reference : 24 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.

MalaCards based summary : Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis, also known as naegeli syndrome, is related to naegeli-franceschetti-jadassohn syndrome and dermatopathia pigmentosa reticularis. An important gene associated with Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis is KRT14 (Keratin 14). Affiliated tissues include skin.

Related Diseases for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

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

# Related Disease Score Top Affiliating Genes
1 naegeli-franceschetti-jadassohn syndrome 12.8
2 dermatopathia pigmentosa reticularis 11.7
3 adermatoglyphia 10.9

Symptoms & Phenotypes for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Drugs & Therapeutics for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Search Clinical Trials , NIH Clinical Center for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis

Genetic Tests for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Anatomical Context for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

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

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Skin

Publications for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Articles related to Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis:

# Title Authors Year
1
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity? ( 21252004 )
2011

Variations for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

ClinVar genetic disease variations for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis:

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/dermatopathia Pigmentosa...

Search GEO for disease gene expression data for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa Reticularis.

Pathways for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

GO Terms for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

Sources for Naegeli-Franceschetti-Jadassohn Syndrome/dermatopathia Pigmentosa...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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