PLCA
MCID: PRM001
MIFTS: 50

Primary Cutaneous Amyloidosis (PLCA) malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Primary Cutaneous Amyloidosis

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Primary cutaneous amyloidosis is a form of amyloidosis associated with oncostatin M receptor. This type... more...

MalaCards: Primary Cutaneous Amyloidosis, also known as primary localized cutaneous amyloidosis, is related to amyloidosis and atopic dermatitis. An important gene associated with Primary Cutaneous Amyloidosis is KRT10 (keratin 10), and among its related pathways are Cytoskeleton remodeling Keratin filaments and Immune response Oncostatin M signaling via JAK Stat in human cells. The compounds calcipotriol and acitretin have been mentioned in the context of this disorder. Affiliated tissues include skin and b cells, and related mouse phenotypes are limbs/digits/tail and pigmentation.

Description from OMIM:48 105250

Aliases & Classifications for Primary Cutaneous Amyloidosis

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9Disease Ontology, 11DISEASES, 50Orphanet, 44NIH Rare Diseases, 46Novoseek, 48OMIM, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 50 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

50
primary cutaneous amyloidosis:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Variable


Aliases & Descriptions:

primary cutaneous amyloidosis 9 11 50
primary localized cutaneous amyloidosis 44 50
plca 44 50
familial primary localized cutaneous amyloidosis 9
amyloidosis familial cutaneous lichen 44
amyloidosis, primary cutaneous 46
amyloidosis primary cutaneous 44
lichen amyloidosis familial 44
amyloidosis ix 44
amyloidosis 9 44


External Ids:

Disease Ontology9 DOID:0050639
OMIM48 105250
ICD10 via Orphanet27 E85.4+, L99.0*
SNOMED-CT via Orphanet60 201337008, 282834007
UMLS via Orphanet64 C0268397

Related Diseases for Primary Cutaneous Amyloidosis

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Sources:
18GeneCards, 19GeneDecks
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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 all 34)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.5KRT10, RET, OSMR
2atopic dermatitis30.3IL31, OSMR
3amyloidosis, primary localized cutaneous, 110.3
4thyroiditis10.2
5familial medullary thyroid carcinoma10.2
6dermatitis10.1
7marginal zone b-cell lymphoma10.1
8b-cell lymphomas10.1
9macular amyloidosis10.1
10lichen amyloidosis10.1
11epidermolytic hyperkeratosis10.1KRT10
12pachyonychia congenita10.1KRT17
13steatocystoma multiplex10.1KRT17, KRT10
14keratoacanthoma10.1KRT17, KRT10
15bowen syndrome10.1KRT10, KRT17
16nonepidermolytic palmoplantar keratoderma10.1KRT10, KRT5
17cervical intraepithelial neoplasia10.1KRT10, KRT17
18uveitis10.0CCL2
19amyloidosis, primary localized cutaneous, 210.0
20palmoplantar keratosis10.0KRT5, KRT10, KRT17
21epidermolysis bullosa simplex10.0KRT10, KRT5, KRT17
22basal cell carcinoma10.0KRT17, BCL2, KRT10
23transthyretin amyloidosis10.0
24skin disease10.0KRT17, KRT10, IL31, KRT5
25cervical cancer10.0BCL2, KRT5, KRT10, KRT17
26psoriasis9.9CCL2, KRT17, KRT10, IL31, KRT5
27lung cancer9.9BCL2, KRT5, FAS
28autoimmune thyroiditis9.9FAS, RET
29glioblastoma multiforme9.9IL31, BCL2, FAS, OSMR
30prostate cancer9.9FAS, KRT5, BCL2
31breast cancer9.9KRT17, BCL2, KRT5, FAS
32melanoma9.9IL31, BCL2, FAS, OSMR
33tongue squamous cell carcinoma9.9KRT5, FAS, BCL2, KRT17, KRT10
34adenocarcinoma9.9KRT10, KRT17, BCL2, FAS, KRT5

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



Diseases related to primary cutaneous amyloidosis

Symptoms for Primary Cutaneous Amyloidosis

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Sources:
48OMIM
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Clinical features from OMIM:

105250

Drugs & Therapeutics for Primary Cutaneous Amyloidosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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Sources:
34MalaCards
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MalaCards organs/tissues related to Primary Cutaneous Amyloidosis:

34
Skin, B cells

Animal Models for Primary Cutaneous Amyloidosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Primary Cutaneous Amyloidosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8KRT5, KRT10, RET, FAS
2MP:00011868.2FAS, CCL2, BCL2, KRT17
3MP:00020067.9FAS, RET, CCL2, BCL2, KRT10
4MP:00053827.7KRT5, KRT10, KRT17, BCL2, CCL2, FAS
5MP:00107717.7FAS, CCL2, BCL2, KRT17, KRT10, KRT5
6MP:00053817.5FAS, RET, CCL2, BCL2, KRT17, KRT5
7MP:00053977.4OSMR, FAS, RET, CCL2, IL31RA, BCL2
8MP:00053877.2FAS, RET, CCL2, IL31RA, BCL2, KRT10
9MP:00107686.7EARS2, FAS, RET, CCL2, BCL2, KRT17

Publications for Primary Cutaneous Amyloidosis

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Sources:
53PubMed
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Articles related to Primary Cutaneous Amyloidosis:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Primary cutaneous amyloidosis of the glans penis. Two case reports and a review of the literature. (24125073)
2013
2
Thalidomide improves clinical symptoms of primary cutaneous amyloidosis: report of familiar and sporadic cases. (23742287)
2013
3
MCP-1 as an effector of IL-31 signaling in familial primary cutaneous amyloidosis. (23303452)
2013
4
Reactive eccrine syringofibroadenomatosis secondary to primary cutaneous amyloidosis: a novel association. (24325801)
2013
5
Primary cutaneous amyloidosis: a clinico-pathological study with emphasis on polarized microscopy. (22771637)
2012
6
Poikiloderma-like primary cutaneous amyloidosis confined to the calves in a Chinese man. (22776500)
2012
7
Characteristic dermoscopic features of primary cutaneous amyloidosis: a study of 35 cases. (22632408)
2012
8
Primary cutaneous amyloidosis of the external ear: a clinicopathological and immunohistochemical study of 17 cases. (22077601)
2012
9
Nodular localized primary cutaneous amyloidosis and primary marginal zone B-cell lymphoma on the nose: treatment with microscopically controlled surgery. (21413960)
2011
10
Unusual primary cutaneous amyloidosis with an incontinentia pigmenti-like pattern. (21413964)
2011
11
Role of oligomers in the amyloidogenesis of primary cutaneous amyloidosis. (21669474)
2011
12
Association of primary cutaneous amyloidosis with atopic dermatitis: a nationwide population-based study in Taiwan. (21070198)
2011
13
Dramatic improvement of primary cutaneous amyloidosis with thalidomide. (21382777)
2011
14
A rare type of primary cutaneous amyloidosis: amyloidosis cutis dyschromica. (21091677)
2010
15
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. (19690585)
2010
16
Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis. (19466957)
2009
17
Papules and plaques on the nose. Nodular localized primary cutaneous amyloidosis. (17438189)
2007
18
Genome-wide scan identifies a susceptibility locus for familial primary cutaneous amyloidosis on chromosome 5p13.1-q11.2. (17107390)
2006
19
A comparative study of two Congo red stains for the detection of primary cutaneous amyloidosis. (16844537)
2006
20
Primary cutaneous amyloidosis of the auricular concha: case report and review of published work. (16556282)
2006
21
Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23. (15656797)
2005
22
Nodular localized primary cutaneous amyloidosis. (12174132)
2002
23
Primary cutaneous amyloidosis. (11991040)
2002
24
Primary cutaneous amyloidosis involving the external ears along with the classical sites. (17664705)
2001
25
Clinical and histopathological characteristics of primary cutaneous amyloidosis in 794 Chinese patients. (11355326)
2001
26
Nodular localized primary cutaneous amyloidosis: a long-term follow-up study. (11453916)
2001
27
Familial primary cutaneous amyloidosis in a South African family. (10606942)
1999
28
Apoptosis in primary cutaneous amyloidosis. (10733268)
1999
29
Cytokeratins in primary cutaneous amyloidosis. (9611375)
1998
30
Primary cutaneous amyloidosis. (20944287)
1997
31
Epstein-Barr virus-related primary cutaneous amyloidosis. Successful treatment with acyclovir and interferon-alpha. (8745909)
1996
32
Genetic heterogeneity of familial primary cutaneous amyloidosis: lack of evidence for linkage with the chromosome 10 pericentromeric region in Chinese families. (8752835)
1996
33
Unusual manifestations of primary cutaneous amyloidosis in association with Raynaud's phenomenon and livedo reticularis. (1516235)
1992
34
Diffuse primary cutaneous amyloidosis. (1476924)
1992
35
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
36
Primary cutaneous amyloidosis of the auricular concha. (3279082)
1988
37
Nodular localized primary cutaneous amyloidosis. (3504756)
1987
38
A monoclonal anti-keratin antibody reactive with amyloid deposit of primary cutaneous amyloidosis. (2449480)
1987
39
Nodular primary cutaneous amyloidosis. Isolation and characterization of amyloid fibrils. (3789778)
1986
40
Primary cutaneous amyloidosis: identically distributed lesions in identical twins. (3725702)
1986
41
Familial primary cutaneous amyloidosis. (3970841)
1985
42
Primary cutaneous amyloidosis in Sri Lanka. (3842097)
1985
43
Primary cutaneous amyloidosis. (6409527)
1983
44
Primary cutaneous amyloidosis: clinical, laboratorial and histopathological study of 25 cases. Identification of gammaglobulins and C3 in the lesions by immunofluorescence. (6987109)
1980
45
Familial primary cutaneous amyloidosis. Clinical, genetic, and immunofluorescent studies. (354533)
1978
46
Primary cutaneous amyloidosis : clinical, histological, histochemical immunofluorescent and peroxidase studies of 134 cases in 2 years. (978070)
1976
47
Coeliac disease with primary cutaneous amyloidosis. (1156539)
1975
48
Primary cutaneous amyloidosis. (5810896)
1969
49
Primary cutaneous amyloidosis. (11851271)
1965
50
PRIMARY CUTANEOUS AMYLOIDOSIS. (14329250)
1965

Variations for Primary Cutaneous Amyloidosis

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Expression for genes affiliated with Primary Cutaneous Amyloidosis

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Sources:
2BioGPS, 16Gene 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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Sources:
51PathCards, 61Thomson Reuters, 5Cell Signaling Technology, 56Reactome, 55R&D Systems, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN
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Pathways related to Primary Cutaneous Amyloidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8KRT17, KRT5
29.7CCL2, OSMR
39.5KRT10, KRT17, KRT5
4
Show member pathways
9.0FAS, BCL2
5
Show member pathways
9.0FAS, BCL2
68.6BCL2, RET, FAS
7
Show member pathways
Toll-like receptor signaling pathway39
Regulation of toll-like receptor signaling pathway39
8.5FAS, CCL2, BCL2
8
Show member pathways
Apoptosis and survival TNFR1 signaling pathway61
TWEAK Signaling Pathway39
Apoptosis Modulation by HSP7039
HIV-1 Nef- Negative effector of Fas and TNF-alpha39
8.5FAS, CCL2, BCL2
9
Show member pathways
8.2OSMR, FAS, CCL2, BCL2

Compounds for genes affiliated with Primary Cutaneous Amyloidosis

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Sources:
46Novoseek, 62Tocris Bioscience, 30IUPHAR, 12DrugBank, 25HMDB, 52PharmGKB, 3BitterDB
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Compounds related to Primary Cutaneous Amyloidosis according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1calcipotriol46 62 30 1213.2KRT10, KRT5
2acitretin46 1211.1KRT17, KRT5
3caffeic acid phenethyl ester469.7CCL2, FAS
4tpck469.7CCL2, FAS
5shikonin469.5CCL2, BCL2
6tanshinone iia469.5FAS, BCL2
7oridonin469.4BCL2, FAS
8beta-lapachone469.4FAS, BCL2
9hoechst 33342469.4FAS, BCL2
10vitamin e succinate469.4FAS, BCL2
11vitamin a46 25 1211.4FAS, RET, KRT5
12triptolide469.4CCL2, BCL2
13noxa469.3BCL2, FAS
14cd 437469.3FAS, BCL2
15herbimycin a46 6210.3RET, CCL2, FAS
162-chlorodeoxyadenosine469.3BCL2, FAS
17vitamin d469.2FAS, KRT10, CCL2
18agar469.2FAS, RET, CCL2
19dutp469.2FAS, BCL2, KRT10
20gp 130469.2OSMR, FAS, IL31, IL31RA
21ribonucleic acid469.2RET, FAS, CCL2
223-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide469.1FAS, BCL2
23retinoid469.1KRT5, KRT10, BCL2, KRT17
24sulforaphane469.1BCL2, FAS
25depsipeptide469.0FAS, BCL2
26fludarabine46 52 1211.0BCL2, FAS
27suberoylanilide hydroxamic acid468.9BCL2, FAS
28sp 60012546 629.9FAS, CCL2, BCL2
29egcg468.9BCL2, CCL2, FAS
30mg 13246 629.9BCL2, CCL2, FAS
31aspartate468.9RET, FAS, KRT5, CCL2
32testosterone46 62 25 1211.9KRT5, CCL2, RET, FAS
335fluorouracil468.9FAS, CCL2, BCL2
34n acetylcysteine468.8BCL2, CCL2, FAS
35butyrate468.8FAS, RET, BCL2
36sb 20358046 629.7CCL2, BCL2, FAS
37arginine468.7FAS, KRT5, KRT10, CCL2, RET
38oligonucleotide468.6FAS, BCL2, KRT17, RET
39dexamethasone46 52 30 1211.6BCL2, FAS, CCL2, KRT10
40pd 98,059468.5CCL2, RET, FAS, BCL2
41ly294002468.5FAS, RET, BCL2, CCL2
42wortmannin468.5FAS, CCL2, BCL2, RET
43vegf468.3BCL2, CCL2, RET, FAS
44phosphatidylinositol468.3BCL2, CCL2, RET, FAS
45actinomycin d468.2CCL2, FAS, BCL2
46tyrosine468.1KRT5, KRT17, RET, FAS, YARS, KRT10
47genistein46 30 62 3 25 1213.1KRT5, BCL2, FAS, CCL2, RET
48retinoic acid46 259.0FAS, KRT5, KRT10, KRT17, BCL2, RET
49paraffin467.5RET, BCL2, CCL2, KRT10, FAS, KRT5
50serine467.5KRT10, KRT17, FAS, CCL2, KRT5, RET

GO Terms for genes affiliated with Primary Cutaneous Amyloidosis

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17Gene Ontology
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Cellular components related to Primary Cutaneous Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058829.2KRT17, KRT10, KRT5
2cytoplasmGO:0057377.1YARS, FAS, CCL2, BCL2, KRT17, KRT10

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1JAK-STAT cascadeGO:0072599.9CCL2, IL31RA
2tRNA aminoacylation for protein translationGO:0064189.7EARS2, YARS
3positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:20012419.6RET, FAS
4MAPK cascadeGO:0001659.5IL31RA, CCL2, RET
5positive regulation of neuron maturationGO:0140429.5BCL2, RET
6response to gamma radiationGO:0103329.3BCL2, CCL2
7renal system processGO:0030149.3FAS, BCL2
8spleen developmentGO:0485369.2BCL2, FAS
9extrinsic apoptotic signaling pathway via death domain receptorsGO:0086259.1FAS, BCL2
10humoral immune responseGO:0069599.1BCL2, CCL2
11extrinsic apoptotic signaling pathway in absence of ligandGO:0971929.1BCL2, FAS
12response to cytokineGO:0340979.1BCL2, OSMR
13response to glucocorticoidGO:0513848.8BCL2, CCL2, FAS
14response to drugGO:0424938.6BCL2, CCL2, RET
15signal transductionGO:0071658.4KRT17, CCL2, RET, FAS, YARS

Molecular functions related to Primary Cutaneous Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tRNA bindingGO:0000499.7YARS, EARS2

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet