MCID: MDD015
MIFTS: 27

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 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 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

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:



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 9.73 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:

41
Skin, Thyroid, Neutrophil

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
30688725 2019
2
Lysyl oxidase-like-2 mutations and reduced mRNA and protein expression in mid-dermal elastolysis. 38
29845638 2019
3
Mycophenolate mofetil to treat mid-dermal elastolysis. 38
29683223 2018
4
Lysyl oxidase-like 2 promoter hypermethylation in mid-dermal elastolysis. 38
27062057 2016
5
Fibulin Protein Expression in Mid-dermal Elastolysis and Anetoderma: A Study of 23 Cases. 38
26775654 2016
6
[Mid-dermal elastolysis after insertion of a pacemaker]. 38
26362130 2015
7
Mid-dermal elastolysis: A female-centric disease; case report and updated review of the literature. 38
28491975 2015
8
Mid-dermal elastolysis as a manifestation of immune reconstitution inflammatory syndrome in an HIV-infected patient. 38
25219731 2014
9
Mid-dermal elastolysis: report of a case and literature review. 38
25526002 2014
10
Elastophagocytosis: underlying mechanisms and associated cutaneous entities. 38
24447829 2014
11
Evolution of granuloma annulare to mid-dermal elastolysis: report of a case and review of the literature. 38
24447045 2014
12
A quantitative approach to histopathological dissection of elastin-related disorders using multiphoton microscopy. 38
23662922 2013
13
Generalized Anetoderma after Intravenous Penicillin Therapy for Secondary Syphilis in an HIV Patient. 38
24003347 2013
14
Linear Lumbar Localized Lysis of Elastic Fibers: A Distinctive Clinical Presentation of Mid-dermal Elastolysis. 38
23882313 2013
15
Decreased lysyl oxidase-like 2 expression in mid-dermal elastolysis. 38
23238607 2013
16
Reticular variant of mid-dermal elastolysis. 38
22780831 2013
17
Erythematous reticular patches: a rare presentation of mid-dermal elastolysis. 38
23062921 2012
18
Reticular variant of mid-dermal elastolysis accompanied by persistent urticarial lesions. 38
22724522 2012
19
Mid-dermal elastolysis: another dermatological clue to autoimmunity? 38
22293825 2012
20
Generalized mid dermal elastolysis. 38
25386304 2011
21
Non-invasive imaging of mid-dermal elastolysis. 38
20497184 2011
22
[What is your diagnosis? Mid-dermal elastolysis]. 38
21497263 2011
23
Expression of extracellular matrix proteins in reticular variant of mid-dermal elastolysis. 38
20456556 2010
24
[Mid-dermal elastolysis]. 38
19967331 2010
25
Reticular variant of mid-dermal elastolysis after insertion of a pacemaker. 38
19886960 2010
26
Mid-dermal elastolysis revisited. 38
19936772 2010
27
Pseudoxanthoma elasticum papillary dermal elastolysis: a case report. 38
20827433 2010
28
Granuloma annulare resolving with features of mid-dermal elastolysis. 38
20055825 2009
29
Mid-dermal elastolysis with prothrombotic abnormalities: two cases. 38
19438450 2009
30
Mid-dermal elastolysis in a patient undergoing chronic hemodialysis. 38
19363907 2009
31
A case of mid-dermal elastolysis after narrowband ultraviolet B phototherapy. 38
19187310 2009
32
Perifollicular protrusions--mid-dermal elastolysis. 38
19054426 2009
33
[Two cases of papular elastorrhexis]. 38
19061655 2008
34
Immunohistochemical investigation of mid-dermal elastolysis with a history of erythema. 38
18806493 2008
35
Reticular erythema with focal mid-dermal elastophagocytosis (REMDE). 38
18397313 2008
36
Reticular variant of mid-dermal elastolysis. 38
18496436 2008
37
Annular elastolytic giant cell granuloma: a prodromal stage of mid-dermal elastolysis? 38
17459032 2007
38
[Mid-dermal elastolysis]. 38
17447039 2007
39
A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. 38
15810001 2005
40
[Elastolysis of the eyelids. A rare cause of ptosis]. 38
15138799 2004
41
Immunohistochemical investigation of mid-dermal elastolysis. 38
14987281 2004
42
Mid-dermal elastolysis preceded by acute neutrophilic dermatosis. 38
14675289 2004
43
Mid-dermal elastolysis: a clinical, histologic, and immunohistochemical study of 11 patients. 38
12789173 2003
44
Mid-dermal elastolysis. 38
12729097 2003
45
Colocalization of granuloma annulare and mid-dermal elastolysis. 38
12582379 2003
46
Mid-dermal elastophagocytosis presenting as a persistent reticulate erythema. 38
11233723 2001
47
Mid-dermal elastolysis. 38
11328636 2001
48
Wrinkling due to mid-dermal elastolysis: two cases and literature review. 38
10689227 2000
49
Mid-dermal elastolysis associated with Hashimoto's thyroiditis. 38
10461647 1999
50
Elastin metabolism in skin fibroblasts explanted from a patient with mid-dermal elastolysis. 38
10233337 1999

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 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

Sources for Mid-Dermal Elastolysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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