Late-Onset Focal Dermal Elastosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Late-Onset Focal Dermal Elastosis

MalaCards integrated aliases for Late-Onset Focal Dermal Elastosis:

Name: Late-Onset Focal Dermal Elastosis ⁵⁹

Pseudoxanthoma-Like Late-Onset Focal Dermal Elastosis ⁵⁹

Pxe-Like Late-Onset Focal Dermal Elastosis ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare skin diseases

External Ids:

Orphanet ⁵⁹ ORPHA228227

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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 and heart.

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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 all 24)

#	Related Disease	Score	Top Affiliating Genes
1	pseudoxanthoma elasticum	30.2	ELN FBN1
2	pseudoxanthoma elasticum-like papillary dermal elastolysis	9.9	ELN FBN1
3	familial abdominal aortic aneurysm	9.9	ELN FBN1
4	aortic aneurysm	9.9	ELN FBN1
5	chronic actinic dermatitis	9.9	ELN FBN1
6	mid-dermal elastolysis	9.9	ELN FBN1
7	autosomal recessive cutis laxa type iii	9.9	ELN FBN1
8	phacogenic glaucoma	9.9	ELN FBN1
9	supravalvular aortic stenosis	9.9	ELN FBN1
10	aortic valve insufficiency	9.9	ELN FBN1
11	sorsby fundus dystrophy	9.9	ELN FBN1
12	fundus dystrophy	9.9	ELN FBN1
13	aortic aneurysm, familial thoracic 1	9.9	ELN FBN1
14	pneumothorax	9.9	ELN FBN1
15	exfoliation syndrome	9.9	ELN FBN1
16	cutis laxa, autosomal dominant 1	9.9	ELN FBN1
17	heart valve disease	9.9	ELN FBN1
18	aortic disease	9.9	ELN FBN1
19	inguinal hernia	9.8	ELN FBN1
20	marfan syndrome	9.8	ELN FBN1
21	orthostatic intolerance	9.8	ELN FBN1
22	aortic aneurysm, familial abdominal, 1	9.8	ELN FBN1
23	aortic valve disease 1	9.8	ELN FBN1
24	connective tissue disease	9.7	ELN FBN1

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

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Symptoms & Phenotypes for Late-Onset Focal Dermal Elastosis

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Drugs & Therapeutics for Late-Onset Focal Dermal Elastosis

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

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Genetic Tests for Late-Onset Focal Dermal Elastosis

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Anatomical Context for Late-Onset Focal Dermal Elastosis

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

⁴¹

Skin, Heart

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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 )	Hanami Y....Yamamoto T.	2018
2	Familial acral localized late-onset focal dermal elastosis. ( 22481499 )	Camacho D....Requena L.	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 )	Higgins H.J....Whitworth M.W.	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 )	Tajima S....Kobayashi T.	1996
10	Late-onset focal dermal elastosis: clinical and histological features. ( 7547403 )	Tajima S....Harada T.	1995

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Genes for Late-Onset Focal Dermal Elastosis

Genes related to Late-Onset Focal Dermal Elastosis (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ELN	Elastin	Protein Coding	17.51	GeneCards inferred via : Publications (show sections)
2	FBN1	Fibrillin 1	Protein Coding	17.51	GeneCards inferred via : Publications (show sections)

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Variations for Late-Onset Focal Dermal Elastosis

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Expression for Late-Onset Focal Dermal Elastosis

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

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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	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.21	ELN FBN1
2	Degradation of the extracellular matrix ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	11.61	ELN FBN1
3	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²² Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²²	11.36	ELN FBN1
4	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	10.49	ELN FBN1
5	G-protein signaling_Rap2B regulation pathway ²²	10.06	ELN FBN1

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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

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