MCID: LTN013
MIFTS: 21

Late-Onset Focal Dermal Elastosis

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Late-Onset Focal Dermal Elastosis

MalaCards integrated aliases for Late-Onset Focal Dermal Elastosis:

Name: Late-Onset Focal Dermal Elastosis 60
Pseudoxanthoma-Like Late-Onset Focal Dermal Elastosis 60
Pxe-Like Late-Onset Focal Dermal Elastosis 60

Characteristics:

Orphanet epidemiological data:

60
late-onset focal dermal elastosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Orphanet 60 ORPHA228227

Summaries for Late-Onset Focal Dermal Elastosis

MalaCards based summary : Late-Onset Focal Dermal Elastosis, also known as pseudoxanthoma-like late-onset focal dermal elastosis, is related to pseudoxanthoma elasticum and pseudoxanthoma elasticum-like papillary dermal elastolysis. An important gene associated with Late-Onset Focal Dermal Elastosis is ELN (Elastin), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include skin.

Related Diseases for Late-Onset Focal Dermal Elastosis

Graphical network of the top 20 diseases related to Late-Onset Focal Dermal Elastosis:



Diseases related to Late-Onset Focal Dermal Elastosis

Symptoms & Phenotypes for Late-Onset Focal Dermal Elastosis

Drugs & Therapeutics for Late-Onset Focal Dermal Elastosis

Search Clinical Trials , NIH Clinical Center for Late-Onset Focal Dermal Elastosis

Genetic Tests for Late-Onset Focal Dermal Elastosis

Anatomical Context for Late-Onset Focal Dermal Elastosis

MalaCards organs/tissues related to Late-Onset Focal Dermal Elastosis:

42
Skin

Publications for Late-Onset Focal Dermal Elastosis

Articles related to Late-Onset Focal Dermal Elastosis:

# Title Authors Year
1
Case of late-onset focal dermal elastosis. ( 29855085 )
2018
2
Familial acral localized late-onset focal dermal elastosis. ( 22481499 )
2012
3
Late-onset focal dermal elastosis: an uncommon mimicker of pseudoxanthoma elasticum. ( 22882354 )
2012
4
Late-onset focal dermal elastosis. ( 22361947 )
2012
5
Late-onset focal dermal elastosis: a case report and review of the literature. ( 20486459 )
2010
6
Pseudoxanthoma-like late-onset focal dermal elastosis. ( 15670180 )
2005
7
Analysis of elastin metabolism in patients with late-onset focal dermal elastosis. ( 10429985 )
1999
8
Late onset focal dermal elastosis: a distinct clinicopathologic entity? ( 10446782 )
1999
9
A case of acrogeria associated with late-onset focal dermal elastosis. ( 8726645 )
1996
10
Late-onset focal dermal elastosis: clinical and histological features. ( 7547403 )
1995

Variations for Late-Onset Focal Dermal Elastosis

Expression for Late-Onset Focal Dermal Elastosis

Search GEO for disease gene expression data for Late-Onset Focal Dermal Elastosis.

Pathways for Late-Onset Focal Dermal Elastosis

Pathways related to Late-Onset Focal Dermal Elastosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.21 ELN FBN1
2
Show member pathways
11.61 ELN FBN1
3
Show member pathways
11.36 ELN FBN1
4
Show member pathways
10.49 ELN FBN1
5 10.06 ELN FBN1

GO Terms for Late-Onset Focal Dermal Elastosis

Cellular components related to Late-Onset Focal Dermal Elastosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.96 ELN FBN1
2 collagen-containing extracellular matrix GO:0062023 8.62 ELN FBN1

Biological processes related to Late-Onset Focal Dermal Elastosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.62 ELN FBN1

Molecular functions related to Late-Onset Focal Dermal Elastosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 ELN FBN1
2 extracellular matrix constituent conferring elasticity GO:0030023 8.62 ELN FBN1

Sources for Late-Onset Focal Dermal Elastosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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