MCID: MDD015
MIFTS: 30

Mid-Dermal Elastolysis

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Mid-Dermal Elastolysis

MalaCards integrated aliases for Mid-Dermal Elastolysis:

Name: Mid-Dermal Elastolysis 60

Characteristics:

Orphanet epidemiological data:

60
mid-dermal elastolysis
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Orphanet 60 ORPHA228299

Summaries for Mid-Dermal Elastolysis

MalaCards based summary : Mid-Dermal Elastolysis is related to pseudoxanthoma elasticum and pseudoxanthoma elasticum-like papillary dermal elastolysis. 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 thyroid, skin and neutrophil, 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 all 49)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum 30.6 ELN FBN1
2 pseudoxanthoma elasticum-like papillary dermal elastolysis 30.6 ELN FBN1
3 granuloma annulare 10.5
4 cerebral aneurysms 10.2 ELANE ELN
5 cutis laxa 10.2 ELN FBLN5
6 acquired cutis laxa 10.2 ELN FBLN5
7 elephantiasis 10.2 ELANE ELN
8 cutis laxa, autosomal dominant 2 10.2 ELN FBLN5
9 erysipelas 10.2 ELANE ELN
10 autosomal recessive cutis laxa type i 10.2 ELN FBLN5
11 late-onset focal dermal elastosis 10.2 ELN FBN1
12 hashimoto thyroiditis 10.2
13 thyroiditis 10.2
14 familial abdominal aortic aneurysm 10.2 ELN FBN1
15 chronic actinic dermatitis 10.2 ELN FBN1
16 pelvic organ prolapse 10.2 ELN FBLN5
17 autosomal recessive cutis laxa type iii 10.2 ELN FBN1
18 alpha-1-antitrypsin deficiency 10.2 ELANE ELN
19 phacogenic glaucoma 10.1 ELN FBN1
20 aortic valve insufficiency 10.1 ELN FBN1
21 tricuspid valve prolapse 10.1 FBLN5 FBN1
22 aortic aneurysm, familial thoracic 1 10.1 ELN FBN1
23 senile ectropion 10.1 ELN MMP7
24 adult respiratory distress syndrome 10.1 ELANE ELN
25 gingival disease 10.1 ELANE TIMP1
26 central nervous system tuberculosis 10.1 ELANE TIMP1
27 pneumothorax 10.1 ELN FBN1
28 light chain deposition disease 10.1 MMP12 MMP7
29 exfoliation syndrome 10.1 ELN FBN1
30 bronchopulmonary dysplasia 10.1 ELANE TIMP1
31 heart valve disease 10.1 ELN FBN1
32 coronary artery aneurysm 10.0 MMP12 MMP7
33 aortic disease 10.0 ELN FBN1
34 orthostatic intolerance 10.0 ELN FBN1
35 aortic aneurysm 9.9 ELN FBLN5 FBN1
36 supravalvular aortic stenosis 9.9 ELN FBLN5 FBN1
37 cutis laxa, autosomal dominant 1 9.9 ELN FBLN5 FBN1
38 sorsby fundus dystrophy 9.9 ELN FBN1 TIMP1
39 fundus dystrophy 9.9 ELN FBN1 TIMP1
40 connective tissue disease 9.9 ELN FBLN5 FBN1
41 marfan syndrome 9.9 ELN FBN1
42 inguinal hernia 9.9 ELN FBN1 TIMP1
43 varicose veins 9.8 ELN MMP7 TIMP1
44 biliary atresia 9.8 MMP7 TIMP1
45 pulmonary emphysema 9.7 ELANE ELN MMP12 TIMP1
46 pulmonary fibrosis, idiopathic 9.7 ELANE MMP7 TIMP1
47 pulmonary disease, chronic obstructive 9.7 ELANE ELN MMP12 TIMP1
48 kawasaki disease 9.7 ELANE TIMP1
49 aortic aneurysm, familial abdominal, 1 9.7 ELANE ELN FBN1 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:

47
# 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

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:

42
Thyroid, Skin, Neutrophil, Heart

Publications for Mid-Dermal Elastolysis

Articles related to Mid-Dermal Elastolysis:

(show top 50) (show all 51)
# Title Authors Year
1
Lysyl oxidase-like-2 mutations and reduced mRNA and protein expression in mid-dermal elastolysis. ( 29845638 )
2019
2
Mycophenolate mofetil to treat mid-dermal elastolysis. ( 29683223 )
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
Evolution of granuloma annulare to mid-dermal elastolysis: report of a case and review of the literature. ( 24447045 )
2014
7
Mid-dermal elastolysis as a manifestation of immune reconstitution inflammatory syndrome in an HIV-infected patient. ( 25219731 )
2014
8
Mid-dermal elastolysis: report of a case and literature review. ( 25526002 )
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
Mid-dermal elastolysis: another dermatological clue to autoimmunity? ( 22293825 )
2012
13
Reticular variant of mid-dermal elastolysis accompanied by persistent urticarial lesions. ( 22724522 )
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
Reticular variant of mid-dermal elastolysis after insertion of a pacemaker. ( 19886960 )
2010
18
Mid-dermal elastolysis revisited. ( 19936772 )
2010
19
Expression of extracellular matrix proteins in reticular variant of mid-dermal elastolysis. ( 20456556 )
2010
20
Granuloma annulare resolving with features of mid-dermal elastolysis. ( 20055825 )
2009
21
Perifollicular protrusions--mid-dermal elastolysis. ( 19054426 )
2009
22
A case of mid-dermal elastolysis after narrowband ultraviolet B phototherapy. ( 19187310 )
2009
23
Mid-dermal elastolysis in a patient undergoing chronic hemodialysis. ( 19363907 )
2009
24
Mid-dermal elastolysis with prothrombotic abnormalities: two cases. ( 19438450 )
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
Colocalization of granuloma annulare and mid-dermal elastolysis. ( 12582379 )
2003
31
Mid-dermal elastolysis. ( 12729097 )
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
Elastin metabolism in skin fibroblasts explanted from a patient with mid-dermal elastolysis. ( 10233337 )
1999
36
Mid-dermal elastolysis associated with Hashimoto's thyroiditis. ( 10461647 )
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 and pseudoxanthoma elasticum-like papillary dermal elastolysis. ( 7718476 )
1995
40
Mid-dermal elastolysis: an ultrastructural and biochemical study. ( 7763086 )
1995
41
Upper dermal elastolysis: a comparative study with mid-dermal elastolysis. ( 7699120 )
1994
42
Mid dermal elastolysis: case report and review of the literature. ( 7798435 )
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
Features of an autoimmune process in mid-dermal elastolysis. ( 1469138 )
1992
48
Mid dermal elastolysis with wrinkling. Report of two cases and review of the literature. ( 1552047 )
1992
49
Mid dermal elastolysis. Report of a case with a predominant perifollicular pattern. ( 1564157 )
1992
50
Mid-dermal elastolysis with inflammation. ( 1613155 )
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 space GO:0005615 9.8 ELANE FBLN5 FBN1 LOXL2 MMP12 MMP7
2 extracellular region GO:0005576 9.56 ELANE ELN FBLN5 FBN1 LOXL2 MMP12
3 collagen-containing extracellular matrix GO:0062023 9.55 ELANE ELN FBLN5 FBN1 LOXL2
4 basement membrane GO:0005604 9.54 FBN1 LOXL2 TIMP1
5 elastic fiber GO:0071953 9.32 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 extracellular matrix organization GO:0030198 9.33 ELN FBLN5 FBN1
2 collagen catabolic process GO:0030574 9.26 MMP12 MMP7
3 aging GO:0007568 9.13 LOXL2 MMP7 TIMP1
4 extracellular matrix disassembly GO:0022617 8.92 ELANE MMP12 MMP7 TIMP1

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 FBLN5 FBN1 LOXL2 MMP12
2 endopeptidase activity GO:0004175 9.32 ELANE MMP12
3 serine-type endopeptidase activity GO:0004252 9.26 ELANE MMP7
4 heparin binding GO:0008201 9.13 ELANE FBN1 MMP7
5 extracellular matrix constituent conferring elasticity GO:0030023 8.8 ELN FBLN5 FBN1

Sources for Mid-Dermal Elastolysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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