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MCID: MDD015
MIFTS: 27

Mid-Dermal Elastolysis

Categories: Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Mid-Dermal Elastolysis

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MalaCards integrated aliases for Mid-Dermal Elastolysis:

Name: Mid-Dermal Elastolysis 58

Characteristics:

Orphanet epidemiological data:

58
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: 58  
Rare skin diseases


External Ids:

Orphanet 58 ORPHA228299
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Summaries for Mid-Dermal Elastolysis

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MalaCards based summary : Mid-Dermal Elastolysis is related to pseudoxanthoma elasticum-like papillary dermal elastolysis and cutis laxa. An important gene associated with Mid-Dermal Elastolysis is ELN (Elastin), and among its related pathways/superpathways are Degradation of the extracellular matrix and Matrix Metalloproteinases. Affiliated tissues include t cells, thyroid and skin, and related phenotypes are cardiovascular system and homeostasis/metabolism

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Related Diseases for Mid-Dermal Elastolysis

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum-like papillary dermal elastolysis 30.8 FBN1 ELN
2 cutis laxa 29.9 FBN1 FBLN5 ELN ELANE
3 connective tissue disease 29.8 FBN1 FBLN5 ELN
4 urticaria 10.6
5 granuloma annulare 10.5
6 pseudoxanthoma elasticum 10.3
7 thyroiditis 10.3
8 cerebral aneurysms 10.2 ELN ELANE
9 acquired cutis laxa 10.2 FBLN5 ELN
10 fbln5-related cutis laxa 10.2 FBLN5 ELN
11 elephantiasis 10.2 ELN ELANE
12 erysipelas 10.2 ELN ELANE
13 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
14 cutaneous t cell lymphoma 10.2
15 lyme disease 10.2
16 dermatitis 10.2
17 linear focal elastosis 10.2
18 solar urticaria 10.2
19 late-onset focal dermal elastosis 10.2 FBN1 ELN
20 chronic actinic dermatitis 10.2 FBN1 ELN
21 familial abdominal aortic aneurysm 10.1 FBN1 ELN
22 phacogenic glaucoma 10.1 FBN1 ELN
23 aortic valve insufficiency 10.1 FBN1 ELN
24 iris disease 10.1 FBN1 ELN
25 mitral valve insufficiency 10.1 FBN1 ELN
26 bronchopulmonary dysplasia 10.1 TIMP1 ELANE
27 oral submucous fibrosis 10.1 TIMP1 ELN
28 telangiectasis 10.1 FBN1 ELN
29 tricuspid valve prolapse 10.0 FBN1 FBLN5
30 chronic venous insufficiency 10.0 TIMP1 MMP12
31 familial thoracic aortic aneurysm and dissection 10.0 FBN1 ELN
32 mitral valve disease 10.0 FBN1 ELN
33 gingival disease 10.0 TIMP1 ELANE
34 exfoliation syndrome 10.0 FBN1 ELN
35 patent ductus arteriosus 1 10.0 FBN1 ELN
36 bacterial pneumonia 10.0 ELN ELANE
37 alpha-1-antitrypsin deficiency 10.0 MMP12 ELN ELANE
38 collagen disease 9.9 FBN1 ELN
39 aneurysm 9.9 MMP12 FBN1 ELN
40 senile ectropion 9.9 MMP7 ELN
41 light chain deposition disease 9.9 MMP7 MMP12
42 marfan syndrome 9.9 MMP12 FBN1 ELN
43 venous insufficiency 9.9 TIMP1 ELN ELANE
44 ureteric orifice cancer 9.8 FBN1 FBLN5 ELN
45 autosomal recessive cutis laxa type i 9.8 FBN1 FBLN5 ELN
46 homocysteinemia 9.8 FBN1 ELN
47 autosomal recessive cutis laxa type ii classic type 9.8 FBN1 FBLN5 ELN
48 arterial tortuosity syndrome 9.8 FBN1 FBLN5 ELN
49 pelvic organ prolapse 9.8 TIMP1 FBLN5 ELN
50 costello syndrome 9.8 FBN1 FBLN5 ELN

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



Diseases related to Mid-Dermal Elastolysis
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Symptoms & Phenotypes for Mid-Dermal Elastolysis

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MGI Mouse Phenotypes related to Mid-Dermal Elastolysis:

45
# 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

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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

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MalaCards organs/tissues related to Mid-Dermal Elastolysis:

40
T Cells, Thyroid, Skin, Neutrophil, Heart
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Publications for Mid-Dermal Elastolysis

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Articles related to Mid-Dermal Elastolysis:

(show top 50) (show all 71)
# Title Authors PMID Year
1
[Pseudoxanthoma elasticum-like papillary dermal elastolysis: A case report]. 61
31839274 2019
2
Cutaneous Elastic Tissue Anomalies. 61
30688725 2019
3
Lysyl oxidase-like-2 mutations and reduced mRNA and protein expression in mid-dermal elastolysis. 61
29845638 2019
4
Mycophenolate mofetil to treat mid-dermal elastolysis. 61
29683223 2018
5
Lysyl oxidase-like 2 promoter hypermethylation in mid-dermal elastolysis. 61
27062057 2016
6
Fibulin Protein Expression in Mid-dermal Elastolysis and Anetoderma: A Study of 23 Cases. 61
26775654 2016
7
[Mid-dermal elastolysis after insertion of a pacemaker]. 61
26362130 2015
8
Mid-dermal elastolysis: A female-centric disease; case report and updated review of the literature. 61
28491975 2015
9
Mid-dermal elastolysis as a manifestation of immune reconstitution inflammatory syndrome in an HIV-infected patient. 61
25219731 2014
10
Mid-dermal elastolysis: report of a case and literature review. 61
25526002 2014
11
Elastophagocytosis: underlying mechanisms and associated cutaneous entities. 61
24447829 2014
12
Evolution of granuloma annulare to mid-dermal elastolysis: report of a case and review of the literature. 61
24447045 2014
13
A quantitative approach to histopathological dissection of elastin-related disorders using multiphoton microscopy. 61
23662922 2013
14
Generalized Anetoderma after Intravenous Penicillin Therapy for Secondary Syphilis in an HIV Patient. 61
24003347 2013
15
Linear Lumbar Localized Lysis of Elastic Fibers: A Distinctive Clinical Presentation of Mid-dermal Elastolysis. 61
23882313 2013
16
Decreased lysyl oxidase-like 2 expression in mid-dermal elastolysis. 61
23238607 2013
17
Reticular variant of mid-dermal elastolysis. 61
22780831 2013
18
Erythematous reticular patches: a rare presentation of mid-dermal elastolysis. 61
23062921 2012
19
Reticular variant of mid-dermal elastolysis accompanied by persistent urticarial lesions. 61
22724522 2012
20
Mid-dermal elastolysis: another dermatological clue to autoimmunity? 61
22293825 2012
21
Generalized mid dermal elastolysis. 61
25386304 2011
22
Non-invasive imaging of mid-dermal elastolysis. 61
20497184 2011
23
[What is your diagnosis? Mid-dermal elastolysis]. 61
21497263 2011
24
Expression of extracellular matrix proteins in reticular variant of mid-dermal elastolysis. 61
20456556 2010
25
[Mid-dermal elastolysis]. 61
19967331 2010
26
Reticular variant of mid-dermal elastolysis after insertion of a pacemaker. 61
19886960 2010
27
Mid-dermal elastolysis revisited. 61
19936772 2010
28
Pseudoxanthoma elasticum papillary dermal elastolysis: a case report. 61
20827433 2010
29
Granuloma annulare resolving with features of mid-dermal elastolysis. 61
20055825 2009
30
Mid-dermal elastolysis with prothrombotic abnormalities: two cases. 61
19438450 2009
31
Mid-dermal elastolysis in a patient undergoing chronic hemodialysis. 61
19363907 2009
32
A case of mid-dermal elastolysis after narrowband ultraviolet B phototherapy. 61
19187310 2009
33
Perifollicular protrusions--mid-dermal elastolysis. 61
19054426 2009
34
[Two cases of papular elastorrhexis]. 61
19061655 2008
35
Immunohistochemical investigation of mid-dermal elastolysis with a history of erythema. 61
18806493 2008
36
Reticular erythema with focal mid-dermal elastophagocytosis (REMDE). 61
18397313 2008
37
Reticular variant of mid-dermal elastolysis. 61
18496436 2008
38
Annular elastolytic giant cell granuloma: a prodromal stage of mid-dermal elastolysis? 61
17459032 2007
39
[Mid-dermal elastolysis]. 61
17447039 2007
40
A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. 61
15810001 2005
41
[Elastolysis of the eyelids. A rare cause of ptosis]. 61
15138799 2004
42
Immunohistochemical investigation of mid-dermal elastolysis. 61
14987281 2004
43
Mid-dermal elastolysis preceded by acute neutrophilic dermatosis. 61
14675289 2004
44
Mid-dermal elastolysis: a clinical, histologic, and immunohistochemical study of 11 patients. 61
12789173 2003
45
Mid-dermal elastolysis. 61
12729097 2003
46
Colocalization of granuloma annulare and mid-dermal elastolysis. 61
12582379 2003
47
Mid-dermal elastophagocytosis presenting as a persistent reticulate erythema. 61
11233723 2001
48
Mid-dermal elastolysis. 61
11328636 2001
49
Wrinkling due to mid-dermal elastolysis: two cases and literature review. 61
10689227 2000
50
Mid-dermal elastolysis associated with Hashimoto's thyroiditis. 61
10461647 1999
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Variations for Mid-Dermal Elastolysis

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Expression for Mid-Dermal Elastolysis

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

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

# Super pathways Score Top Affiliating Genes
1
Degradation of the extracellular matrix 65
Show member pathways
 11.88 TIMP1 MMP7 MMP12 LOXL2 FBN1 FBLN5
2
Matrix Metalloproteinases 1
Show member pathways
 11.45 TIMP1 MMP7 MMP12 ELANE
3
Cell adhesion_ECM remodeling 22
11.22 TIMP1 MMP7 MMP12
4
Lung fibrosis 1
11.17 TIMP1 ELN
5
Elastic fibre formation 65
Show member pathways
 11.12 LOXL2 FBN1 FBLN5 ELN
6
Cell adhesion_Cell-matrix glycoconjugates 22
10.91 ELN ELANE
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GO Terms for Mid-Dermal Elastolysis

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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 9.35 MMP7 MMP12 FBN1 FBLN5 ELN
2 aging GO:0007568 9.33 TIMP1 MMP7 LOXL2
3 collagen catabolic process GO:0030574 9.26 MMP7 MMP12
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 heparin binding GO:0008201 9.13 MMP7 FBN1 ELANE
3 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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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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