MCID: ACQ027
MIFTS: 42

Acquired Cutis Laxa malady

Genetic diseases, Skin diseases, Rare diseases, Fetal diseases, Neuronal diseases, Eye diseases, Bone diseases categories
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Summaries for Acquired Cutis Laxa

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33MalaCards
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MalaCards: Acquired Cutis Laxa, also known as cutis laxa, acquired type, is related to cutis laxa and myeloma. An important gene associated with Acquired Cutis Laxa is FBLN5 (fibulin 5), and among its related pathways are Cell adhesion Cell matrix glycoconjugates and Elastic fibre formation. The compounds orcein and cacl2 have been mentioned in the context of this disorder. Affiliated tissues include skin and t cells, and related mouse phenotypes are muscle and respiratory system.

Aliases & Classifications for Acquired Cutis Laxa

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49Orphanet, 62UMLS, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

Orphanet: 49 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

49
cutis laxa acquisita:
Inheritance: Sporadic; Age of onset: Variable


Aliases & Descriptions:

acquired cutis laxa 49
cutis laxa, acquired type 62
cutis laxa acquisita 49


External Ids:

UMLS via Orphanet63 C0406549
SNOMED-CT via Orphanet59 19726003

Related Diseases for Acquired Cutis Laxa

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Atp6v0a2-Related Cutis Laxa family:

Cutis Laxa Efemp2-Related Cutis Laxa
Fbln5-Related Cutis Laxa Eln-Related Cutis Laxa
Pycr1-Related Cutis Laxa Aldh18a1-Related Cutis Laxa
Cutis Laxa, Ad acquired cutis laxa

Diseases related to Acquired Cutis Laxa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1cutis laxa31.5ELN, ELANE, FBLN5, FBN1
2myeloma10.8
3multiple myeloma10.7
4amyloidosis10.5
5dermatitis10.4
6urticaria10.4
7cutaneous mastocytosis10.3
8mastocytosis10.3
9granulomatous dermatitis10.3
10systemic lupus erythematosus10.3
11alpha 1-antitrypsin deficiency10.3
12arthritis10.3
13dermatitis herpetiformis10.3
14lupus erythematosus10.3
15nephrotic syndrome10.3
16plasmacytoma10.3
17rheumatoid arthritis10.3
18sarcoidosis10.3
19vasculitis10.3
20marshall syndrome10.3
21heavy chain deposition disease10.3
22fbln5-related cutis laxa10.1FBLN5
23aortic disease10.1FBN1
24aortic aneurysm10.1FBN1
25homocysteinemia10.1ELN
26costello syndrome10.1ELN
27emphysema due to aat deficiency10.1ELANE
28thoracic aortic aneurysm10.0FBN1, ELN
29exfoliation syndrome10.0ELN, FBN1
30telangiectasis10.0FBN1, ELN
31pseudoxanthoma elasticum10.0FBN1, ELN
32marfan syndrome10.0ELN, FBN1
33williams syndrome10.0ELN, FBN1
34hypertrophic scars10.0ELN, FBN1
35ehlers-danlos syndrome10.0FBN1, ELN
36hyperhomocysteinemia10.0FBN1, ELN
37glaucoma10.0FBN1, ELN
38cerebral aneurysms10.0ELN, ELANE
39pulmonary emphysema10.0ELN, ELANE
40adult respiratory distress syndrome10.0ELN, ELANE
41intracranial aneurysm10.0ELANE, ELN
42congenital heart disease10.0ELN, FBN1
43wegener's granulomatosis10.0ELN, ELANE
44primary pulmonary hypertension10.0ELN, ELANE
45pulmonary fibrosis10.0ELN, ELANE
46mental retardation10.0ELN, FBN1
47supravalvular aortic stenosis10.0FBN1, FBLN5, ELN
48connective tissue disease10.0FBN1, FBLN5, ELN
49pulmonary disease, chronic obstructive10.0ELN, ELANE
50cork-handlers' disease10.0ELN, ELANE

Graphical network of the top 20 diseases related to Acquired Cutis Laxa:



Diseases related to acquired cutis laxa

Symptoms for Acquired Cutis Laxa

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Drugs & Therapeutics for Acquired Cutis Laxa

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Acquired Cutis Laxa

Search NIH Clinical Center for Acquired Cutis Laxa

Genetic Tests for Acquired Cutis Laxa

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Anatomical Context for Acquired Cutis Laxa

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33MalaCards
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MalaCards organs/tissues related to Acquired Cutis Laxa:

33
Skin, T cells

Animal Models for Acquired Cutis Laxa or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Acquired Cutis Laxa:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8ELN, FBLN5, FBN1
2MP:00053888.5FBN1, FBLN5, ELN
3MP:00053767.9ELN, ELANE, FBLN5, FBN1

Publications for Acquired Cutis Laxa

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52PubMed
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Articles related to Acquired Cutis Laxa:

(show all 44)
idTitleAuthorsYear
1
Acral localized acquired cutis laxa. (23675943)
2013
2
Primary systemic amyloidosis, acquired cutis laxa and cutaneous mucinosis in a patient with multiple myeloma. (24346874)
2013
3
Emphysema associated with acquired cutis laxa. (23506607)
2013
4
Acquired cutis laxa with an interstitial granulomatous reaction associated with IgG lambda monoclonal gammopathy. (23694828)
2013
5
Generalized acquired cutis laxa treated with facial plastic surgery. (21252033)
2011
6
Acquired cutis laxa in a 55-year-old female with multiple myeloma and serologic evidence of systemic lupus erythematosus. (21810393)
2011
7
No mutation of elastin and fibulin-5 genes in a patient with acquired cutis laxa associated with chronic urticaria. (20849517)
2011
8
Part III: cutaneous hypersensitivity during selective serotonin reuptake inhibitor therapy resulting in acquired cutis laxa. (21283929)
2011
9
Generalized acquired cutis laxa associated with multiple myeloma with biphenotypic IgG-I> and IgA-I_ gammopathy following treatment of a nodal plasmacytoma. (21422340)
2011
10
Ultrastructural demonstration of a relationship between acquired cutis laxa and monoclonal gammopathy. (20574607)
2010
11
Clinical presentation of a patient with localized acquired cutis laxa of abdomen: a case report. (20585600)
2010
12
Acquired cutis laxa type II (Marshall syndrome) in an 18-month-old child: a case report. (20199420)
2010
13
Multiple myeloma-associated amyloidosis presenting with acrolocalized acquired cutis laxa. (21173333)
2010
14
Acquired cutis laxa following urticarial vasculitis associated with IgA myeloma. (19467378)
2009
15
Localized acquired cutis laxa secondary to interstitial granulomatous dermatitis. (19438565)
2009
16
Acquired cutis laxa in childhood Sweet's syndrome. (19706111)
2009
17
Multiple myeloma-associated amyloidosis and acral localized acquired cutis laxa. (18191696)
2008
18
Acquired cutis laxa associated with heavy chain deposition disease. (19119136)
2008
19
Elastic tissue damage in cephalic acquired cutis laxa. (18095996)
2008
20
Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. (16374472)
2006
21
Localized acquired cutis laxa associated with trachyonychia]. (16476396)
2005
22
Acral localized acquired cutis laxa associated with rheumatoid arthritis. (11756959)
2002
23
Acquired cutis laxa associated with multiple myeloma. (11868975)
2002
24
Increased fibroblast elastase activity in acquired cutis laxa. (10449932)
1999
25
Post febrile acquired cutis laxa. (20885052)
1999
26
Acquired cutis laxa associated with cutaneous angiocentric T-cell lymphoma. (9372355)
1997
27
Acquired cutis laxa associated with a plasma cell dyscrasia. (8902101)
1996
28
Acrolocalized acquired cutis laxa. (8736350)
1996
29
Generalized acquired cutis laxa associated with coeliac disease: evidence of immunoglobulin A deposits on the dermal elastic fibres. (8776377)
1996
30
Acquired cutis laxa associated with chronic urticaria. (7593805)
1995
31
Sweet's syndrome leading to acquired cutis laxa (Marshall's syndrome) in an infant with alpha 1-antitrypsin deficiency. (7574835)
1995
32
Abnormalities of fibrillin in acquired cutis laxa. (8188885)
1994
33
Acquired cutis laxa with dermatitis herpetiformis and sarcoidosis. (8408824)
1993
34
Acquired cutis laxa confined to the face. (2061455)
1991
35
Localized acquired cutis laxa in one of identical twins. (2767840)
1989
36
Acral localized acquired cutis laxa. (2745770)
1989
37
Acquired cutis laxa concomitant with nephrotic syndrome. (3307640)
1987
38
Acquired cutis laxa: case report and review of disorders of elastolysis. (4011506)
1985
39
Acquired cutis laxa and multiple myeloma. (6696851)
1984
40
Multiple myeloma associated with acquired cutis laxa. (7408543)
1980
41
Acquired cutis laxa (generalized elastolysis): light and electron microscopic studies. (92145)
1979
42
Acquired cutis laxa associated with multiple myeloma. (942220)
1976
43
Acquired cutis laxa. Primary generalized elastolysis. (5555855)
1971
44
Tracheobronchiomegaly and acquired cutis laxa in a child. Physiologic and immunologic studies. (4192682)
1969

Variations for Acquired Cutis Laxa

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Expression for genes affiliated with Acquired Cutis Laxa

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Acquired Cutis Laxa

Search GEO for disease gene expression data for Acquired Cutis Laxa.

Pathways for genes affiliated with Acquired Cutis Laxa

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50PathCards, 60Thomson Reuters, 55Reactome
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Pathways related to Acquired Cutis Laxa according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0ELN, ELANE
2
Show member pathways
8.8ELN, FBLN5, FBN1
3
Show member pathways
8.0ELN, ELANE, FBLN5, FBN1

Compounds for genes affiliated with Acquired Cutis Laxa

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45Novoseek, 24HMDB, 11DrugBank, 3BitterDB, 61Tocris Bioscience, 51PharmGKB, 29IUPHAR
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Compounds related to Acquired Cutis Laxa according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1orcein459.7FBN1, ELN
2cacl2459.7ELN, FBN1
3hydroxyproline45 24 1111.7ELN, FBN1
4chondroitin sulfate45 2410.6FBN1, ELN
5amine459.6FBN1, ELN
6tgf beta1459.5FBN1, ELN
7heparan sulfate45 2410.5ELN, FBN1
8isodesmosine459.4ELN, ELANE
9tannins459.4ELANE, ELN
10(4-aminophenyl)mercuric acetate459.4ELN, ELANE
11thermolysin459.4ELANE, ELN
12diisopropylfluorophosphate459.4ELN, ELANE
13alginate459.4ELN, ELANE
14dermatan sulfate459.4ELN, ELANE
15doxycycline45 1110.4ELN, ELANE
16sodium nitroprusside459.3ELANE, ELN
17hydrocortisone45 3 61 1112.3ELN, ELANE
18carbon459.2ELN, ELANE
19valine459.1ELANE, ELN
20vitamin a45 24 1111.1ELN, ELANE
21chloramphenicol45 3 51 1112.0ELANE, ELN
22ascorbic acid45 2410.0ELN, FBN1
23fibrinogen459.0ELN, ELANE
24desmosine458.9ELN, ELANE, FBN1
25sodium dodecylsulfate458.9ELN, ELANE, FBN1
26hyaluronic acid45 249.9ELN, ELANE, FBN1
27vitamin d458.9FBN1, ELANE, ELN
28heparin45 29 24 1111.9FBN1, ELANE, ELN
29glutamate458.8ELN, ELANE, FBN1
30estrogen458.8ELN, ELANE, FBN1
31retinoic acid45 249.8ELN, ELANE, FBN1
32cysteine458.7FBN1, ELANE, ELN
33serine458.4ELN, ELANE, FBN1

GO Terms for genes affiliated with Acquired Cutis Laxa

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16Gene Ontology
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Cellular components related to Acquired Cutis Laxa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.4FBLN5, FBN1
2elastic fiberGO:0719539.3ELN, FBLN5
3proteinaceous extracellular matrixGO:0055788.7ELN, FBLN5, FBN1
4extracellular regionGO:0055767.7FBN1, FBLN5, ELANE, ELN

Biological processes related to Acquired Cutis Laxa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix disassemblyGO:0226178.5ELN, ELANE, FBN1
2extracellular matrix organizationGO:0301987.7ELN, ELANE, FBLN5, FBN1

Molecular functions related to Acquired Cutis Laxa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.3ELN, FBN1

Products for genes affiliated with Acquired Cutis Laxa

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Acquired Cutis Laxa

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet