PLCA
MCID: PRM001
MIFTS: 47

Primary Cutaneous Amyloidosis (PLCA) malady

Skin diseases, Genetic diseases categories

Summaries for Primary Cutaneous Amyloidosis

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Primary cutaneous amyloidosis is a form of amyloidosis associated with oncostatin M receptor. This type... more...

MalaCards: Primary Cutaneous Amyloidosis, also known as PLCA, is related to amyloidosis and dermatitis. An important gene associated with Primary Cutaneous Amyloidosis is KRT10 (keratin 10), and among its related pathways are Immune response Oncostatin M signaling via JAK-Stat in human cells and G-protein signaling Ras family GTPases in kinase cascades (scheme). The compounds acitretin and tanshinone iia have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and b cells, and related mouse phenotypes are tumorigenesis and craniofacial.

Description from OMIM:46 105250

Aliases & Classifications for Primary Cutaneous Amyloidosis

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
primary cutaneous amyloidosis:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Variable


Aliases & Descriptions:

primary cutaneous amyloidosis 8 10 48
plca 42 48
familial primary localized cutaneous amyloidosis 8
primary localized cutaneous amyloidosis 48
amyloidosis familial cutaneous lichen 42
amyloidosis, primary cutaneous 44
amyloidosis primary cutaneous 42
lichen amyloidosis familial 42
amyloidosis ix 42
amyloidosis 9 42


External Ids:

Disease Ontology8 DOID:0050639
OMIM46 105250
ICD10 via Orphanet26 E85.4+, L99.0*
SNOMED-CT via Orphanet57 201337008, 282834007
UMLS via Orphanet61 C0268397

Related Diseases for Primary Cutaneous Amyloidosis

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17GeneCards, 18GeneDecks
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Diseases in the Amyloidosis, Primary Localized Cutaneous, 1 family:

primary cutaneous amyloidosis Amyloidosis, Primary Localized Cutaneous, 2

Diseases related to Primary Cutaneous Amyloidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.4RET, OSMR, KRT10
2dermatitis30.1IL31
3atopic dermatitis30.1OSMR, IL31
4amyloidosis, primary localized cutaneous, 110.3
5familial medullary thyroid carcinoma10.2
6thyroid medullary carcinoma10.2
7thyroiditis10.2
8marginal zone b-cell lymphoma10.1
9macular amyloidosis10.1
10lichen amyloidosis10.1
11amyloidosis, primary localized cutaneous, 210.0
12cervical squamous cell carcinoma10.0KRT10
13keratosis10.0KRT10
14lichen planus10.0KRT10
15transthyretin amyloidosis10.0
16epidermolysis bullosa10.0KRT5
17keratoderma10.0KRT17
18pituitary adenoma10.0RET
19pachyonychia congenita10.0KRT17
20epidermolytic hyperkeratosis10.0KRT10
21keratoacanthoma10.0KRT10, KRT17
22astrocytoma10.0OSM
23cervical intraepithelial neoplasia10.0KRT10, KRT17
24peritonitis10.0CCL2
25sarcoma10.0OSM
26papilloma10.0KRT10, KRT5
27steatocystoma multiplex10.0KRT17, KRT10
28glaucoma10.0RET
29bowen syndrome10.0KRT17, KRT10
30nonepidermolytic palmoplantar keratoderma10.0KRT5, KRT10
31palmoplantar keratosis10.0KRT5, KRT10, KRT17
32epidermolysis bullosa simplex10.0KRT17, KRT10, KRT5
33pneumonia10.0OSM, CCL2
34hypersensitivity reaction type ii disease10.0CCL2
35vascular disease10.0BCL2
36skin disease10.0KRT10, KRT5, IL31, KRT17
37endometrial carcinoma10.0BCL2
38asthma10.0CCL2, OSM
39monocytic leukemia10.0FAS, CCL2
40basal cell carcinoma10.0BCL2, KRT10, KRT17
41retinoblastoma10.0KRT10, OSM, BCL2
42colorectal cancer10.0BCL2, OSM, KRT5
43cervical cancer10.0KRT5, BCL2, KRT17, KRT10
44adenoma10.0RET, BCL2, OSM
45prostate cancer10.0OSM, FAS, BCL2
46psoriasis10.0CCL2, OSM, KRT5, KRT10, IL31, KRT17
47lung cancer10.0BCL2, FAS, KRT5, OSM
48melanoma10.0BCL2, FAS, OSMR, IL31, OSM
49glioblastoma multiforme10.0BCL2, IL31, OSMR, OSM, FAS
50breast cancer10.0OSM, BCL2, KRT17, KRT5, FAS

Graphical network of the top 20 diseases related to Primary Cutaneous Amyloidosis:



Diseases related to primary cutaneous amyloidosis

Clinical Features for Primary Cutaneous Amyloidosis

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Sources:
46OMIM
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Clinical features from OMIM:

105250

Drugs & Therapeutics for Primary Cutaneous Amyloidosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Primary Cutaneous Amyloidosis

Drug clinical trials:

Search ClinicalTrials for Primary Cutaneous Amyloidosis

Search NIH Clinical Center for Primary Cutaneous Amyloidosis

Search CenterWatch for Primary Cutaneous Amyloidosis

Genetic Tests for Primary Cutaneous Amyloidosis

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Anatomical Context for Primary Cutaneous Amyloidosis

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32MalaCards
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MalaCards organs/tissues related to Primary Cutaneous Amyloidosis:

32
Skin, Thyroid, B cells

Animal Models for Primary Cutaneous Amyloidosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Primary Cutaneous Amyloidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.3BCL2, KRT10, RET, FAS, CCL2
2MP:00053828.1CCL2, FAS, KRT5, KRT10, KRT17, BCL2
3MP:00053817.6CCL2, FAS, RET, KRT5, KRT17, BCL2
4MP:00107717.4BCL2, CCL2, FAS, OSM, KRT5, KRT10

Publications for Primary Cutaneous Amyloidosis

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50PubMed
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Articles related to Primary Cutaneous Amyloidosis:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Association of primary cutaneous lichenoid amyloidosis and disseminated superficial actinic porokeratosis without superimposition. (24135333)
2013
2
Primary localized cutaneous nodular amyloidosis successfully treated with cyclophosphamide. (23373889)
2013
3
Primary cutaneous amyloidosis of the glans penis. Two case reports and a review of the literature. (24125073)
2013
4
Thalidomide improves clinical symptoms of primary cutaneous amyloidosis: report of familiar and sporadic cases. (23742287)
2013
5
MCP-1 as an effector of IL-31 signaling in familial primary cutaneous amyloidosis. (23303452)
2013
6
Primary localised cutaneous amyloidosis--a systematic review. (24192243)
2013
7
Reactive eccrine syringofibroadenomatosis secondary to primary cutaneous amyloidosis: a novel association. (24325801)
2013
8
Primary localized cutaneous amyloidosis. (24365002)
2013
9
The diagnosis: primary localized cutaneous nodular amyloidosis. (23837156)
2013
10
Primary cutaneous lichen amyloidosis of the external auditory canal, possibly due to scratching with a metal nail head for severe pruritus. (24201228)
2013
11
Primary localized cutaneous amyloidosis: association with atopic dermatitis. (23489336)
2013
12
A new c.1845Aa89T of oncostatin M receptor-I^ mutation and slightly enhanced oncostatin M receptor-I^ expression in a Chinese family with primary localized cutaneous amyloidosis. (22062952)
2012
13
Primary cutaneous amyloidosis: a clinico-pathological study with emphasis on polarized microscopy. (22771637)
2012
14
Poikiloderma-like primary cutaneous amyloidosis confined to the calves in a Chinese man. (22776500)
2012
15
Characteristic dermoscopic features of primary cutaneous amyloidosis: a study of 35 cases. (22632408)
2012
16
Multiple lesions of primary cutaneous nodular amyloidosis in SjAPgren syndrome. (23158630)
2012
17
Primary cutaneous amyloidosis of the external ear: a clinicopathological and immunohistochemical study of 17 cases. (22077601)
2012
18
Unusual primary cutaneous amyloidosis with an incontinentia pigmenti-like pattern. (21413964)
2011
19
Role of oligomers in the amyloidogenesis of primary cutaneous amyloidosis. (21669474)
2011
20
Dramatic improvement of primary cutaneous amyloidosis with thalidomide. (21382777)
2011
21
Primary localized cutaneous nodular amyloidosis associated with CREST (calcinosis, Raynaud's phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia) syndrome. (20465653)
2010
22
The molecular skin pathology of familial primary localized cutaneous amyloidosis. (20507362)
2010
23
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. (19690585)
2010
24
Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis. (19466957)
2009
25
Familial primary localized cutaneous amyloidosis in Brazil. (19528426)
2009
26
New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis. (19663869)
2009
27
Primary localized cutaneous amyloidosis: a sign of immune dysregulation? (19335432)
2009
28
A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family. (19375894)
2009
29
Papules and plaques on the nose. Nodular localized primary cutaneous amyloidosis. (17438189)
2007
30
Pruritic patches on the back and papules on the legs. Primary localized cutaneous amyloidosis (PLCA) (cutaneous lichen amyloidosis and macular amyloidosis). (17310008)
2007
31
Primary cutaneous amyloidosis of the auricular concha: case report and review of published work. (16556282)
2006
32
Primary localized cutaneous nodular amyloidosis in a patient with SjAPgren's syndrome: a review of the literature. (15906542)
2005
33
Nodular localized primary cutaneous amyloidosis. (12174132)
2002
34
Primary cutaneous amyloidosis. (11991040)
2002
35
Primary cutaneous amyloidosis involving the external ears along with the classical sites. (17664705)
2001
36
Apolipoprotein E is present in primary localized cutaneous amyloidosis. (9740234)
1998
37
Cytokeratins in primary cutaneous amyloidosis. (9611375)
1998
38
Detection of Epstein-Barr virus in primary cutaneous amyloidosis. (9217811)
1997
39
Epstein-Barr virus-related primary cutaneous amyloidosis. Successful treatment with acyclovir and interferon-alpha. (8745909)
1996
40
Genetic heterogeneity of familial primary cutaneous amyloidosis: lack of evidence for linkage with the chromosome 10 pericentromeric region in Chinese families. (8752835)
1996
41
Diffuse primary cutaneous amyloidosis. (1476924)
1992
42
Partial amino acid sequence of an amyloid fibril protein from nodular primary cutaneous amyloidosis showing homology to lambda immunoglobulin light chain of variable subgroup III (a lambda III). (2117035)
1990
43
Nodular primary cutaneous amyloidosis. Isolation and characterization of amyloid fibrils. (3789778)
1986
44
Familial primary cutaneous amyloidosis. (3970841)
1985
45
Primary cutaneous amyloidosis in Sri Lanka. (3842097)
1985
46
Primary cutaneous amyloidosis. (6409527)
1983
47
Primary cutaneous amyloidosis: clinical, laboratorial and histopathological study of 25 cases. Identification of gammaglobulins and C3 in the lesions by immunofluorescence. (6987109)
1980
48
Familial primary cutaneous amyloidosis. Clinical, genetic, and immunofluorescent studies. (354533)
1978
49
Coeliac disease with primary cutaneous amyloidosis. (1156539)
1975
50
PRIMARY CUTANEOUS AMYLOIDOSIS. (14329250)
1965

Genetic Variations for Primary Cutaneous Amyloidosis

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Expression for genes affiliated with Primary Cutaneous Amyloidosis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Primary Cutaneous Amyloidosis

Search GEO for disease gene expression data for Primary Cutaneous Amyloidosis.

Pathways for genes affiliated with Primary Cutaneous Amyloidosis

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12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG
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Pathways related to Primary Cutaneous Amyloidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Immune response Oncostatin M signaling via JAK-Stat in human cells
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8.9OSMR, OSM, CCL2
2
G-protein signaling Ras family GTPases in kinase cascades (scheme)
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8.9OSMR, OSM, CCL2
3
Hide members
8.0CCL2, FAS, OSM, OSMR, BCL2

Compounds for genes affiliated with Primary Cutaneous Amyloidosis

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Sources:
44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 2BitterDB, 24HMDB
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Compounds related to Primary Cutaneous Amyloidosis according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1acitretin44 1111.0KRT5, KRT17
2tanshinone iia4410.0FAS, BCL2
3oridonin449.9BCL2, FAS
4calcipotriol44 59 28 1112.9KRT10, KRT5
5beta-lapachone449.9BCL2, FAS
6caffeic acid phenethyl ester449.8FAS, CCL2
7dutp449.7BCL2, KRT10, FAS
8shikonin449.7CCL2, BCL2
9hoechst 33342449.6BCL2, FAS
10retinoid449.5KRT5, KRT10, KRT17, BCL2
11sp 60012544 5910.3BCL2, FAS, CCL2
12vitamin e succinate449.3BCL2, FAS
13mg 13244 5910.3BCL2, FAS, CCL2
14depsipeptide449.1BCL2, OSM, FAS
15ly294002448.9BCL2, RET, FAS, CCL2
16tgf beta1448.9OSM, FAS, CCL2
17wortmannin448.9CCL2, FAS, RET, BCL2
18agarose448.9BCL2, OSM, FAS
19arginine448.7CCL2, FAS, RET, KRT5, KRT10
20aspartate448.6CCL2, FAS, RET, KRT5
21herbimycin a44 599.6CCL2, FAS, OSM, RET
22agar448.5RET, OSM, FAS, CCL2
23gp 130448.5FAS, OSM, OSMR, IL31, IL31RA
24dexamethasone44 49 28 1111.3CCL2, FAS, OSM, KRT10, BCL2
25pd 98,059448.1CCL2, FAS, OSM, RET, BCL2
26paraffin448.1BCL2, KRT17, KRT10, KRT5, RET, FAS
27vegf448.0CCL2, FAS, OSM, RET, BCL2
28phosphatidylinositol448.0BCL2, RET, OSM, FAS, CCL2
29genistein44 28 59 2 11 2412.8CCL2, FAS, OSM, RET, KRT5, BCL2
30retinoic acid44 248.8FAS, OSM, RET, KRT5, KRT10, KRT17
31tyrosine447.6FAS, OSM, OSMR, YARS, RET, KRT5
32serine447.3CCL2, FAS, OSM, RET, KRT5, KRT10

GO Terms for genes affiliated with Primary Cutaneous Amyloidosis

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16Gene Ontology
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Cellular components related to Primary Cutaneous Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058829.6KRT17, KRT10, KRT5
2oncostatin-M receptor complexGO:0059009.1OSMR, OSM

Biological processes related to Primary Cutaneous Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1renal system processGO:0030149.7BCL2, FAS
2JAK-STAT cascadeGO:0072599.7IL31RA, CCL2
3positive regulation of acute inflammatory responseGO:0026759.3OSM, OSMR
4MAPK cascadeGO:0001659.2IL31RA, RET, CCL2
5response to glucocorticoid stimulusGO:0513849.1BCL2, FAS, CCL2
6signal transductionGO:0071658.0KRT17, RET, YARS, FAS, CCL2

Products for genes affiliated with Primary Cutaneous Amyloidosis

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  • Antibodies
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Sources for Primary Cutaneous Amyloidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet