Mid-Dermal Elastolysis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MDD015 MIFTS: 27	Mid-Dermal Elastolysis Categories: Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Mid-Dermal Elastolysis

MalaCards integrated aliases for Mid-Dermal Elastolysis:

Name: Mid-Dermal Elastolysis ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

mid-dermal elastolysis
Inheritance: Not applicable; 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 ORPHA228299

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Summaries for Mid-Dermal Elastolysis

MalaCards based summary : Mid-Dermal Elastolysis is related to cutis laxa and pseudoxanthoma elasticum. An important gene associated with Mid-Dermal Elastolysis is ELN (Elastin), and among its related pathways/superpathways are Degradation of the extracellular matrix and G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins. Affiliated tissues include skin, thyroid and neutrophil, and related phenotypes are cardiovascular system and homeostasis/metabolism

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Related Diseases for Mid-Dermal Elastolysis

Diseases related to Mid-Dermal Elastolysis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)

#	Related Disease	Score	Top Affiliating Genes
1	cutis laxa	31.2	FBLN5 ELN
2	pseudoxanthoma elasticum	31.0	FBN1 ELN
3	pseudoxanthoma elasticum-like papillary dermal elastolysis	31.0	FBN1 ELN
4	connective tissue disease	30.0	FBN1 FBLN5 ELN
5	urticaria	10.6
6	granuloma annulare	10.5
7	cerebral aneurysms	10.4	ELN ELANE
8	acquired cutis laxa	10.4	FBLN5 ELN
9	elephantiasis	10.4	ELN ELANE
10	cutis laxa, autosomal dominant 2	10.3	FBLN5 ELN
11	thyroiditis	10.3
12	erysipelas	10.3	ELN ELANE
13	autosomal recessive cutis laxa type i	10.3	FBLN5 ELN
14	late-onset focal dermal elastosis	10.3	FBN1 ELN
15	familial abdominal aortic aneurysm	10.3	FBN1 ELN
16	chronic actinic dermatitis	10.3	FBN1 ELN
17	pelvic organ prolapse	10.3	FBLN5 ELN
18	autosomal recessive cutis laxa type iii	10.3	FBN1 ELN
19	alpha-1-antitrypsin deficiency	10.2	ELN ELANE
20	phacogenic glaucoma	10.2	FBN1 ELN
21	aortic valve insufficiency	10.2	FBN1 ELN
22	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	10.2
23	cutaneous t cell lymphoma	10.2
24	lyme disease	10.2
25	dermatitis	10.2
26	linear focal elastosis	10.2
27	solar urticaria	10.2
28	tricuspid valve prolapse	10.2	FBN1 FBLN5
29	aortic aneurysm, familial thoracic 1	10.2	FBN1 ELN
30	adult respiratory distress syndrome	10.2	ELN ELANE
31	gingival disease	10.1	TIMP1 ELANE
32	central nervous system tuberculosis	10.1	TIMP1 ELANE
33	pneumothorax	10.1	FBN1 ELN
34	exfoliation syndrome	10.1	FBN1 ELN
35	bronchopulmonary dysplasia	10.1	TIMP1 ELANE
36	heart valve disease	10.1	FBN1 ELN
37	aortic disease	10.0	FBN1 ELN
38	senile ectropion	10.0	MMP7 ELN
39	light chain deposition disease	9.9	MMP7 MMP12
40	orthostatic intolerance	9.9	FBN1 ELN
41	aortic aneurysm	9.9	FBN1 FBLN5 ELN
42	supravalvular aortic stenosis	9.9	FBN1 FBLN5 ELN
43	cutis laxa, autosomal dominant 1	9.9	FBN1 FBLN5 ELN
44	coronary artery aneurysm	9.9	MMP7 MMP12
45	sorsby fundus dystrophy	9.8	TIMP1 FBN1 ELN
46	fundus dystrophy	9.8	TIMP1 FBN1 ELN
47	marfan syndrome	9.8	FBN1 ELN
48	inguinal hernia	9.8	TIMP1 FBN1 ELN
49	pulmonary emphysema	9.6	TIMP1 MMP12 ELN ELANE
50	pulmonary disease, chronic obstructive	9.6	TIMP1 MMP12 ELN ELANE

Graphical network of the top 20 diseases related to Mid-Dermal Elastolysis:

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Symptoms & Phenotypes for Mid-Dermal Elastolysis

MGI Mouse Phenotypes related to Mid-Dermal Elastolysis:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.73	FBLN5 FBN1 LOXL2 MMP12 MMP7 TIMP1
2	homeostasis/metabolism	MP:0005376	9.7	ELANE FBLN5 FBN1 LOXL2 MMP12 MMP7
3	immune system	MP:0005387	9.43	ELANE FBN1 LOXL2 MMP12 MMP7 TIMP1
4	neoplasm	MP:0002006	9.02	ELANE FBLN5 LOXL2 MMP7 TIMP1

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Drugs & Therapeutics for Mid-Dermal Elastolysis

Search Clinical Trials , NIH Clinical Center for Mid-Dermal Elastolysis

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Genetic Tests for Mid-Dermal Elastolysis

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Anatomical Context for Mid-Dermal Elastolysis

MalaCards organs/tissues related to Mid-Dermal Elastolysis:

⁴¹

Skin, Thyroid, Neutrophil

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Publications for Mid-Dermal Elastolysis

Articles related to Mid-Dermal Elastolysis:

(show top 50) (show all 70)

#	Title	Authors	PMID	Year
1	Cutaneous Elastic Tissue Anomalies. ³⁸	Andres-Ramos I...Requena L	30688725	2019
2	Lysyl oxidase-like-2 mutations and reduced mRNA and protein expression in mid-dermal elastolysis. ³⁸	Gambichler T...Girolomoni G	29845638	2019
3	Mycophenolate mofetil to treat mid-dermal elastolysis. ³⁸	Smithson SL...Scardamaglia L	29683223	2018
4	Lysyl oxidase-like 2 promoter hypermethylation in mid-dermal elastolysis. ³⁸	Gambichler T...Heitzer E	27062057	2016
5	Fibulin Protein Expression in Mid-dermal Elastolysis and Anetoderma: A Study of 23 Cases. ³⁸	Gambichler T...Girolomoni G	26775654	2016
6	[Mid-dermal elastolysis after insertion of a pacemaker]. ³⁸	Kottler D...Skowron F	26362130	2015
7	Mid-dermal elastolysis: A female-centric disease; case report and updated review of the literature. ³⁸	Hardin J...Haber RM	28491975	2015
8	Mid-dermal elastolysis as a manifestation of immune reconstitution inflammatory syndrome in an HIV-infected patient. ³⁸	Cota C...Cerroni L	25219731	2014
9	Mid-dermal elastolysis: report of a case and literature review. ³⁸	Barrado-Solis N...Miquel-Miquel J	25526002	2014
10	Elastophagocytosis: underlying mechanisms and associated cutaneous entities. ³⁸	El-Khoury J...Abbas O	24447829	2014
11	Evolution of granuloma annulare to mid-dermal elastolysis: report of a case and review of the literature. ³⁸	Lai JH...Walsh NM	24447045	2014
12	A quantitative approach to histopathological dissection of elastin-related disorders using multiphoton microscopy. ³⁸	Tong PL...Haass NK	23662922	2013
13	Generalized Anetoderma after Intravenous Penicillin Therapy for Secondary Syphilis in an HIV Patient. ³⁸	Emer J...Goodheart H	24003347	2013
14	Linear Lumbar Localized Lysis of Elastic Fibers: A Distinctive Clinical Presentation of Mid-dermal Elastolysis. ³⁸	Cohen PR...Tschen JA	23882313	2013
15	Decreased lysyl oxidase-like 2 expression in mid-dermal elastolysis. ³⁸	Gambichler T...Skrygan M	23238607	2013
16	Reticular variant of mid-dermal elastolysis. ³⁸	Posada C...Florez A	22780831	2013
17	Erythematous reticular patches: a rare presentation of mid-dermal elastolysis. ³⁸	Meyer A...Guill M	23062921	2012
18	Reticular variant of mid-dermal elastolysis accompanied by persistent urticarial lesions. ³⁸	Gambichler T...Lubbe J	22724522	2012
19	Mid-dermal elastolysis: another dermatological clue to autoimmunity? ³⁸	Martinez-Escala ME...Herrero-Gonzalez JE	22293825	2012
20	Generalized mid dermal elastolysis. ³⁸	Cruz MJ...Azevedo F	25386304	2011
21	Non-invasive imaging of mid-dermal elastolysis. ³⁸	Scola N...Gambichler T	20497184	2011
22	[What is your diagnosis? Mid-dermal elastolysis]. ³⁸	Levy-Roy A...Richard MA	21497263	2011
23	Expression of extracellular matrix proteins in reticular variant of mid-dermal elastolysis. ³⁸	Gambichler T...Skrygan M	20456556	2010
24	[Mid-dermal elastolysis]. ³⁸	Helbig D...Paasch U	19967331	2010
25	Reticular variant of mid-dermal elastolysis after insertion of a pacemaker. ³⁸	Cutillas E...Rausell N	19886960	2010
26	Mid-dermal elastolysis revisited. ³⁸	Gambichler T	19936772	2010
27	Pseudoxanthoma elasticum papillary dermal elastolysis: a case report. ³⁸	Alves R...Bordalo O	20827433	2010
28	Granuloma annulare resolving with features of mid-dermal elastolysis. ³⁸	Sanyal S...Taibjee SM	20055825	2009
29	Mid-dermal elastolysis with prothrombotic abnormalities: two cases. ³⁸	Cozzani E...Parodi A	19438450	2009
30	Mid-dermal elastolysis in a patient undergoing chronic hemodialysis. ³⁸	Eaton PA...Callen JP	19363907	2009
31	A case of mid-dermal elastolysis after narrowband ultraviolet B phototherapy. ³⁸	Vatve M...Bilsland D	19187310	2009
32	Perifollicular protrusions--mid-dermal elastolysis. ³⁸	Volz A...Braun-Falco M	19054426	2009
33	[Two cases of papular elastorrhexis]. ³⁸	Pajot C...Verret JL	19061655	2008
34	Immunohistochemical investigation of mid-dermal elastolysis with a history of erythema. ³⁸	Suda T...Terui T	18806493	2008
35	Reticular erythema with focal mid-dermal elastophagocytosis (REMDE). ³⁸	Hillen U	18397313	2008
36	Reticular variant of mid-dermal elastolysis. ³⁸	Martin LK...Murrell DF	18496436	2008
37	Annular elastolytic giant cell granuloma: a prodromal stage of mid-dermal elastolysis? ³⁸	Muller FB...Groth W	17459032	2007
38	[Mid-dermal elastolysis]. ³⁸	Wiederholt T...Megahed M	17447039	2007
39	A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. ³⁸	Hur DJ...Boyadjiev SA	15810001	2005
40	[Elastolysis of the eyelids. A rare cause of ptosis]. ³⁸	Emesz M...Thaller-Antlanger H	15138799	2004
41	Immunohistochemical investigation of mid-dermal elastolysis. ³⁸	Gambichler T...Stucker M	14987281	2004
42	Mid-dermal elastolysis preceded by acute neutrophilic dermatosis. ³⁸	Lewis KG...Robinson-Bostom L	14675289	2004
43	Mid-dermal elastolysis: a clinical, histologic, and immunohistochemical study of 11 patients. ³⁸	Patroi I...Girolomoni G	12789173	2003
44	Mid-dermal elastolysis. ³⁸	Streams BN...Moschella SM	12729097	2003
45	Colocalization of granuloma annulare and mid-dermal elastolysis. ³⁸	Adams BB...Mutasim DF	12582379	2003
46	Mid-dermal elastophagocytosis presenting as a persistent reticulate erythema. ³⁸	Bannister MJ...Kossard S	11233723	2001
47	Mid-dermal elastolysis. ³⁸	Rothfleisch JE	11328636	2001
48	Wrinkling due to mid-dermal elastolysis: two cases and literature review. ³⁸	Rao BK...Freeman RG	10689227	2000
49	Mid-dermal elastolysis associated with Hashimoto's thyroiditis. ³⁸	Gambichler T...Wolter M	10461647	1999
50	Elastin metabolism in skin fibroblasts explanted from a patient with mid-dermal elastolysis. ³⁸	Tajima S...Izaki S	10233337	1999

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Genes for Mid-Dermal Elastolysis

Genes related to Mid-Dermal Elastolysis (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ELN	Elastin	Protein Coding	17.66	GeneCards inferred via : Publications (show sections)
2	MMP12	Matrix Metallopeptidase 12	Protein Coding	17.66	GeneCards inferred via : Publications (show sections)
3	ELANE	Elastase, Neutrophil Expressed	Protein Coding	17.32	GeneCards inferred via : Publications (show sections)
4	FBLN5	Fibulin 5	Protein Coding	17.32	GeneCards inferred via : Publications (show sections)
5	FBN1	Fibrillin 1	Protein Coding	17.32	GeneCards inferred via : Publications (show sections)
6	LOXL2	Lysyl Oxidase Like 2	Protein Coding	17.32	GeneCards inferred via : Publications (show sections)
7	MMP7	Matrix Metallopeptidase 7	Protein Coding	17.32	GeneCards inferred via : Publications (show sections)
8	TIMP1	TIMP Metallopeptidase Inhibitor 1	Protein Coding	17.32	GeneCards inferred via : Publications (show sections)

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Variations for Mid-Dermal Elastolysis

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Expression for Mid-Dermal Elastolysis

Search GEO for disease gene expression data for Mid-Dermal Elastolysis.

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Pathways for Mid-Dermal Elastolysis

Pathways related to Mid-Dermal Elastolysis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Degradation of the extracellular matrix ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	11.88	TIMP1 MMP7 MMP12 LOXL2 FBN1 FBLN5
2	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	11.73	MMP7 MMP12 FBN1 ELN
3	Matrix Metalloproteinases ¹ Show member pathways Activation of Matrix Metalloproteinases ⁶⁶ Inhibition of Matrix Metalloproteinases ⁶⁴	11.45	TIMP1 MMP7 MMP12 ELANE
4	Angiogenesis (CST) ⁴	11.38	TIMP1 MMP7
5	Cell adhesion_ECM remodeling ²²	11.22	TIMP1 MMP7 MMP12
6	Lung fibrosis ¹	11.2	TIMP1 ELN
7	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	11.12	LOXL2 FBN1 FBLN5 ELN
8	Cell adhesion_Cell-matrix glycoconjugates ²²	10.96	ELN ELANE

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GO Terms for Mid-Dermal Elastolysis

Cellular components related to Mid-Dermal Elastolysis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.8	TIMP1 MMP7 MMP12 LOXL2 FBN1 FBLN5
2	extracellular region	GO:0005576	9.56	TIMP1 MMP7 MMP12 LOXL2 FBN1 FBLN5
3	collagen-containing extracellular matrix	GO:0062023	9.55	LOXL2 FBN1 FBLN5 ELN ELANE
4	basement membrane	GO:0005604	9.54	TIMP1 LOXL2 FBN1
5	elastic fiber	GO:0071953	9.32	FBLN5 ELN
6	extracellular matrix	GO:0031012	9.1	TIMP1 MMP7 MMP12 FBN1 FBLN5 ELN

Biological processes related to Mid-Dermal Elastolysis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix organization	GO:0030198	9.33	FBN1 FBLN5 ELN
2	collagen catabolic process	GO:0030574	9.26	MMP7 MMP12
3	aging	GO:0007568	9.13	TIMP1 MMP7 LOXL2
4	extracellular matrix disassembly	GO:0022617	8.92	TIMP1 MMP7 MMP12 ELANE

Molecular functions related to Mid-Dermal Elastolysis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium ion binding	GO:0005509	9.46	MMP12 LOXL2 FBN1 FBLN5
2	endopeptidase activity	GO:0004175	9.32	MMP12 ELANE
3	serine-type endopeptidase activity	GO:0004252	9.26	MMP7 ELANE
4	heparin binding	GO:0008201	9.13	MMP7 FBN1 ELANE
5	extracellular matrix constituent conferring elasticity	GO:0030023	8.8	FBN1 FBLN5 ELN

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Sources for Mid-Dermal Elastolysis

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