MCID: LTN013
MIFTS: 19

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 58
Pseudoxanthoma-Like Late-Onset Focal Dermal Elastosis 58
Pxe-Like Late-Onset Focal Dermal Elastosis 58

Characteristics:

Orphanet epidemiological data:

58
late-onset focal dermal elastosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Orphanet 58 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 posttransplant acute limbic encephalitis. An important gene associated with Late-Onset Focal Dermal Elastosis is ELN (Elastin), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include skin.

Related Diseases for Late-Onset Focal Dermal Elastosis

Diseases related to Late-Onset Focal Dermal Elastosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum 30.7 FBN1 ELN
2 posttransplant acute limbic encephalitis 10.2
3 linear focal elastosis 10.2
4 pseudoxanthoma elasticum-like papillary dermal elastolysis 9.8 FBN1 ELN
5 chronic actinic dermatitis 9.8 FBN1 ELN
6 familial abdominal aortic aneurysm 9.8 FBN1 ELN
7 aortic aneurysm 9.8 FBN1 ELN
8 aneurysm 9.8 FBN1 ELN
9 mid-dermal elastolysis 9.8 FBN1 ELN
10 ureteric orifice cancer 9.8 FBN1 ELN
11 autosomal recessive cutis laxa type i 9.8 FBN1 ELN
12 cutis laxa 9.8 FBN1 ELN
13 autosomal recessive cutis laxa type ii classic type 9.8 FBN1 ELN
14 phacogenic glaucoma 9.8 FBN1 ELN
15 arterial tortuosity syndrome 9.8 FBN1 ELN
16 aortic valve insufficiency 9.8 FBN1 ELN
17 aortic dissection 9.8 FBN1 ELN
18 iris disease 9.8 FBN1 ELN
19 mitral valve insufficiency 9.8 FBN1 ELN
20 supravalvular aortic stenosis 9.8 FBN1 ELN
21 sorsby fundus dystrophy 9.8 FBN1 ELN
22 fundus dystrophy 9.8 FBN1 ELN
23 telangiectasis 9.8 FBN1 ELN
24 weill-marchesani syndrome 9.8 FBN1 ELN
25 pelvic organ prolapse 9.8 FBN1 ELN
26 collagen disease 9.8 FBN1 ELN
27 costello syndrome 9.8 FBN1 ELN
28 cutis laxa, autosomal dominant 1 9.8 FBN1 ELN
29 mitral valve disease 9.8 FBN1 ELN
30 exfoliation syndrome 9.8 FBN1 ELN
31 familial thoracic aortic aneurysm and aortic dissection 9.8 FBN1 ELN
32 aortic aneurysm, familial thoracic 1 9.8 FBN1 ELN
33 pneumothorax 9.8 FBN1 ELN
34 patent ductus arteriosus 1 9.8 FBN1 ELN
35 aortic aneurysm, familial abdominal, 1 9.7 FBN1 ELN
36 glaucoma, primary open angle 9.7 FBN1 ELN
37 homocysteinemia 9.7 FBN1 ELN
38 varicose veins 9.7 FBN1 ELN
39 lymphoid interstitial pneumonia 9.7 FBN1 ELN
40 brittle bone disorder 9.7 FBN1 ELN
41 heart valve disease 9.7 FBN1 ELN
42 inguinal hernia 9.7 FBN1 ELN
43 aortic valve disease 2 9.7 FBN1 ELN
44 orthostatic intolerance 9.7 FBN1 ELN
45 loeys-dietz syndrome 9.7 FBN1 ELN
46 atrial heart septal defect 9.7 FBN1 ELN
47 aortic disease 9.7 FBN1 ELN
48 intraocular pressure quantitative trait locus 9.7 FBN1 ELN
49 marfan syndrome 9.7 FBN1 ELN
50 patent foramen ovale 9.7 FBN1 ELN

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:

40
Skin

Publications for Late-Onset Focal Dermal Elastosis

Articles related to Late-Onset Focal Dermal Elastosis:

(show all 15)
# Title Authors PMID Year
1
Focal Dermal Elastosis: A Proposed Update to the Nomenclature. 61
32472772 2020
2
Cutaneous Elastic Tissue Anomalies. 61
30688725 2019
3
Case of late-onset focal dermal elastosis. 61
29855085 2018
4
A Yellow Papular Eruption on the Arms, Legs, and Neck: A Rare Masquerader. 61
28031138 2016
5
Late-onset focal dermal elastosis: an uncommon mimicker of pseudoxanthoma elasticum. 61
22882354 2012
6
Familial acral localized late-onset focal dermal elastosis. 61
22481499 2012
7
Late-onset focal dermal elastosis. 61
22361947 2012
8
Late-onset focal dermal elastosis: a case report and review of the literature. 61
20486459 2010
9
Pseudoxanthoma-like late-onset focal dermal elastosis. 61
15670180 2005
10
Acquired disorders of elastic tissue: part I. Increased elastic tissue and solar elastotic syndromes. 61
15243519 2004
11
Buschke-Ollendorff syndrome--differential diagnosis of disseminated connective tissue lesions. 61
11701413 2001
12
Late onset focal dermal elastosis: a distinct clinicopathologic entity? 61
10446782 1999
13
Analysis of elastin metabolism in patients with late-onset focal dermal elastosis. 61
10429985 1999
14
A case of acrogeria associated with late-onset focal dermal elastosis. 61
8726645 1996
15
Late-onset focal dermal elastosis: clinical and histological features. 61
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
11.61 FBN1 ELN
2
Show member pathways
10.49 FBN1 ELN
3 10.06 FBN1 ELN

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 collagen-containing extracellular matrix GO:0062023 8.96 FBN1 ELN
2 extracellular matrix GO:0031012 8.62 FBN1 ELN

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 FBN1 ELN

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 FBN1 ELN
2 extracellular matrix constituent conferring elasticity GO:0030023 8.62 FBN1 ELN

Sources for Late-Onset Focal Dermal Elastosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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