MCID: MDD015
MIFTS: 30

Mid-Dermal Elastolysis

Categories: Skin diseases, Rare diseases

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:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA228299

Summaries for Mid-Dermal Elastolysis

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

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 52)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum-like papillary dermal elastolysis 30.7 ELN FBN1
2 pseudoxanthoma elasticum 29.9 ELN FBN1
3 cerebral aneurysms 10.4 ELANE ELN
4 elephantiasis 10.4 ELANE ELN
5 erysipelas 10.4 ELANE ELN
6 acquired cutis laxa 10.4 ELN FBLN5
7 late-onset focal dermal elastosis 10.4 ELN FBN1
8 familial abdominal aortic aneurysm 10.4 ELN FBN1
9 cutis laxa, autosomal dominant 1 10.4 ELN FBLN5
10 granuloma annulare 10.4
11 chronic actinic dermatitis 10.4 ELN FBN1
12 alpha-1-antitrypsin deficiency 10.3 ELANE ELN
13 phacogenic glaucoma 10.3 ELN FBN1
14 aortic valve insufficiency 10.3 ELN FBN1
15 pelvic organ prolapse 10.3 ELN FBLN5
16 adult respiratory distress syndrome 10.3 ELANE ELN
17 aortic aneurysm, familial thoracic 1 10.2 ELN FBN1
18 exfoliation syndrome 10.2 ELN FBN1
19 wrinkles 10.2
20 collagen disease 10.2 ELN FBN1
21 aortic valve disease 1 10.2 ELN FBN1
22 tricuspid valve prolapse 10.2 FBLN5 FBN1
23 cutis laxa 10.1 ELN FBLN5
24 orthostatic intolerance 10.1 ELN FBN1
25 marfan syndrome 10.1 ELN FBN1
26 gingival disease 10.1 ELANE TIMP1
27 thyroiditis 10.1
28 central nervous system tuberculosis 10.1 ELANE TIMP1
29 bronchopulmonary dysplasia 10.0 ELANE TIMP1
30 aortic valve disease 2 10.0 ELN FBN1
31 senile ectropion 10.0 ELN MMP7
32 autosomal genetic disease 10.0 ELANE FBN1
33 light chain deposition disease 9.9 MMP12 MMP7
34 aneurysm 9.9 ELN FBN1 MMP12
35 coronary artery aneurysm 9.9 MMP12 MMP7
36 wegener granulomatosis 9.8 ELANE ELN
37 supravalvular aortic stenosis 9.8 ELN FBLN5 FBN1
38 pneumothorax 9.8 ELN FBLN5 FBN1
39 aortic aneurysm 9.8 ELN FBLN5 FBN1
40 connective tissue disease 9.7 ELN FBLN5 FBN1
41 kawasaki disease 9.7 ELANE TIMP1
42 pulmonary disease, chronic obstructive 9.7 ELANE ELN TIMP1
43 sorsby fundus dystrophy 9.7 ELN FBN1 TIMP1
44 aortic disease 9.7 ELN FBN1 TIMP1
45 inguinal hernia 9.7 ELN FBN1 TIMP1
46 fundus dystrophy 9.6 ELN FBN1 TIMP1
47 biliary atresia 9.5 MMP7 TIMP1
48 periodontal disease 9.3 ELANE TIMP1
49 varicose veins 9.3 ELN MMP7 TIMP1
50 pulmonary emphysema 9.3 ELANE ELN MMP12 TIMP1

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



Diseases related to Mid-Dermal Elastolysis

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 9.65 FBLN5 FBN1 MMP12 MMP7 TIMP1
2 homeostasis/metabolism MP:0005376 9.63 MMP12 MMP7 TIMP1 ELANE FBLN5 FBN1
3 neoplasm MP:0002006 9.26 ELANE FBLN5 MMP7 TIMP1
4 respiratory system MP:0005388 8.92 FBLN5 FBN1 MMP12 TIMP1

Drugs & Therapeutics for Mid-Dermal Elastolysis

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

Genetic Tests for Mid-Dermal Elastolysis

Anatomical Context for Mid-Dermal Elastolysis

MalaCards organs/tissues related to Mid-Dermal Elastolysis:

41
Skin, Neutrophil, Thyroid

Publications for Mid-Dermal Elastolysis

Articles related to Mid-Dermal Elastolysis:

(show top 50) (show all 51)
# Title Authors Year
1
Mycophenolate mofetil to treat mid-dermal elastolysis. ( 29683223 )
2018
2
Lysyl oxidase-like-2 mutations and reduced mRNA and protein expression in mid-dermal elastolysis. ( 29845638 )
2018
3
Fibulin Protein Expression in Mid-dermal Elastolysis and Anetoderma: A Study of 23 Cases. ( 26775654 )
2016
4
Lysyl oxidase-like 2 promoter hypermethylation in mid-dermal elastolysis. ( 27062057 )
2016
5
Mid-dermal elastolysis: A female-centric disease; case report and updated review of the literature. ( 28491975 )
2015
6
Mid-dermal elastolysis: report of a case and literature review. ( 25526002 )
2014
7
Evolution of granuloma annulare to mid-dermal elastolysis: report of a case and review of the literature. ( 24447045 )
2014
8
Mid-dermal elastolysis as a manifestation of immune reconstitution inflammatory syndrome in an HIV-infected patient. ( 25219731 )
2014
9
Reticular variant of mid-dermal elastolysis. ( 22780831 )
2013
10
Decreased lysyl oxidase-like 2 expression in mid-dermal elastolysis. ( 23238607 )
2013
11
Linear Lumbar Localized Lysis of Elastic Fibers: A Distinctive Clinical Presentation of Mid-dermal Elastolysis. ( 23882313 )
2013
12
Reticular variant of mid-dermal elastolysis accompanied by persistent urticarial lesions. ( 22724522 )
2012
13
Mid-dermal elastolysis: another dermatological clue to autoimmunity? ( 22293825 )
2012
14
Erythematous reticular patches: a rare presentation of mid-dermal elastolysis. ( 23062921 )
2012
15
Non-invasive imaging of mid-dermal elastolysis. ( 20497184 )
2011
16
Generalized mid dermal elastolysis. ( 25386304 )
2011
17
Expression of extracellular matrix proteins in reticular variant of mid-dermal elastolysis. ( 20456556 )
2010
18
Mid-dermal elastolysis revisited. ( 19936772 )
2010
19
Reticular variant of mid-dermal elastolysis after insertion of a pacemaker. ( 19886960 )
2010
20
Granuloma annulare resolving with features of mid-dermal elastolysis. ( 20055825 )
2009
21
Mid-dermal elastolysis with prothrombotic abnormalities: two cases. ( 19438450 )
2009
22
Perifollicular protrusions--mid-dermal elastolysis. ( 19054426 )
2009
23
Mid-dermal elastolysis in a patient undergoing chronic hemodialysis. ( 19363907 )
2009
24
A case of mid-dermal elastolysis after narrowband ultraviolet B phototherapy. ( 19187310 )
2009
25
Reticular variant of mid-dermal elastolysis. ( 18496436 )
2008
26
Immunohistochemical investigation of mid-dermal elastolysis with a history of erythema. ( 18806493 )
2008
27
Annular elastolytic giant cell granuloma: a prodromal stage of mid-dermal elastolysis? ( 17459032 )
2007
28
Mid-dermal elastolysis preceded by acute neutrophilic dermatosis. ( 14675289 )
2004
29
Immunohistochemical investigation of mid-dermal elastolysis. ( 14987281 )
2004
30
Mid-dermal elastolysis. ( 12729097 )
2003
31
Colocalization of granuloma annulare and mid-dermal elastolysis. ( 12582379 )
2003
32
Mid-dermal elastolysis: a clinical, histologic, and immunohistochemical study of 11 patients. ( 12789173 )
2003
33
Mid-dermal elastolysis. ( 11328636 )
2001
34
Wrinkling due to mid-dermal elastolysis: two cases and literature review. ( 10689227 )
2000
35
Mid-dermal elastolysis associated with Hashimoto's thyroiditis. ( 10461647 )
1999
36
Elastin metabolism in skin fibroblasts explanted from a patient with mid-dermal elastolysis. ( 10233337 )
1999
37
Mid-dermal elastolysis in an adolescent subsequent to lesions resembling granuloma annulare. ( 9366855 )
1997
38
Mid-dermal elastolysis: a pathological and ultrastructural study of five cases. ( 8721451 )
1996
39
Mid-dermal elastolysis: an ultrastructural and biochemical study. ( 7763086 )
1995
40
Mid-dermal elastolysis and pseudoxanthoma elasticum-like papillary dermal elastolysis. ( 7718476 )
1995
41
Mid dermal elastolysis: case report and review of the literature. ( 7798435 )
1994
42
Upper dermal elastolysis: a comparative study with mid-dermal elastolysis. ( 7699120 )
1994
43
Ultrastructural evaluation of mid-dermal elastolysis. ( 7962825 )
1994
44
Mid-dermal elastolysis. ( 8186118 )
1994
45
The clinical spectrum of mid-dermal elastolysis and the role of UV light in its pathogenesis. ( 8496457 )
1993
46
Mid-dermal elastolysis. ( 1430417 )
1992
47
Mid-dermal elastolysis with inflammation. ( 1613155 )
1992
48
Mid dermal elastolysis. Report of a case with a predominant perifollicular pattern. ( 1564157 )
1992
49
Features of an autoimmune process in mid-dermal elastolysis. ( 1469138 )
1992
50
Mid dermal elastolysis with wrinkling. Report of two cases and review of the literature. ( 1552047 )
1992

Variations for Mid-Dermal Elastolysis

Expression for Mid-Dermal Elastolysis

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

Pathways for Mid-Dermal Elastolysis

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 exosome GO:0070062 9.77 ELANE FBLN5 FBN1 MMP7 TIMP1
2 extracellular space GO:0005615 9.73 ELANE FBLN5 FBN1 MMP12 MMP7 TIMP1
3 extracellular region GO:0005576 9.5 ELANE ELN FBLN5 FBN1 MMP12 MMP7
4 basement membrane GO:0005604 9.32 FBN1 TIMP1
5 elastic fiber GO:0071953 9.16 ELN FBLN5
6 extracellular matrix GO:0031012 9.1 ELN FBLN5 FBN1 MMP12 MMP7 TIMP1

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

# Name GO ID Score Top Affiliating Genes
1 wound healing GO:0042060 9.26 MMP12 TIMP1
2 collagen catabolic process GO:0030574 9.16 MMP12 MMP7
3 extracellular matrix organization GO:0030198 9.13 ELN FBLN5 FBN1
4 extracellular matrix disassembly GO:0022617 9.1 ELANE ELN FBN1 MMP12 MMP7 TIMP1

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.5 ELANE MMP12 MMP7
2 protease binding GO:0002020 9.37 ELANE TIMP1
3 endopeptidase activity GO:0004175 9.26 ELANE MMP12
4 extracellular matrix structural constituent GO:0005201 9.16 ELN FBN1
5 serine-type endopeptidase activity GO:0004252 9.13 ELANE MMP12 MMP7
6 heparin binding GO:0008201 8.8 ELANE FBN1 MMP7

Sources for Mid-Dermal Elastolysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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