PCA
MCID: PRM001
MIFTS: 51

Primary Cutaneous Amyloidosis (PCA) malady

Genetic diseases, Rare diseases, Metabolic diseases, Skin diseases categories
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Summaries for Primary Cutaneous Amyloidosis

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Wikipedia:65 Primary cutaneous amyloidosis is a form of amyloidosis associated with oncostatin M receptor. This type... more...

MalaCards based summary: Primary Cutaneous Amyloidosis, also known as familial 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.

Disease Ontology:8 An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.

Descriptions from OMIM:46 613955,105250

Aliases & Classifications for Primary Cutaneous Amyloidosis

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Primary Cutaneous Amyloidosis, Aliases & Descriptions:

Name: Primary Cutaneous Amyloidosis 8 10
Familial Primary Localized Cutaneous Amyloidosis 8 62
Primary Localized Cutaneous Amyloidosis 42 62
Amyloidosis, Primary Cutaneous 44 62
Amyloidosis Ix 42 62
Amyloidosis Familial Cutaneous Lichen 42
 
Amyloidosis Primary Cutaneous 42
Lichen Amyloidosis Familial 42
Amyloidosis 9 42
Plca 42
Pca 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:0050639

Related Diseases for Primary Cutaneous Amyloidosis

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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 44)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.7KRT10, RET, OSMR
2atopic dermatitis30.5IL31, OSMR
3prostate cancer30.3KRT5, BCL2, FAS
4prostatitis10.5
5amyloidosis, primary localized cutaneous, 110.5
6epidermolytic hyperkeratosis10.4KRT10
7pachyonychia congenita10.4KRT17
8posterior cortical atrophy10.4
9steatocystoma multiplex10.3KRT17, KRT10
10keratoacanthoma10.3KRT10, KRT17
11bowen syndrome10.3KRT17, KRT10
12nonepidermolytic palmoplantar keratoderma10.3KRT5, KRT10
13pulmonary sarcoidosis10.2
14sarcoidosis10.2
15thyroiditis10.2
16cervical intraepithelial neoplasia10.2KRT10, KRT17
17familial medullary thyroid carcinoma10.2
18uveitis10.2CCL2
19moyamoya disease10.2
20palmoplantar keratosis10.2KRT17, KRT10, KRT5
21epidermolysis bullosa simplex10.2KRT17, KRT10, KRT5
22b-cell lymphomas10.1
23marginal zone b-cell lymphoma10.1
24dermatitis10.1
25macular amyloidosis10.1
26amyloidosis cutis dyschromia10.1
27lichen amyloidosis10.1
28basal cell carcinoma10.1KRT10, KRT17, BCL2
29amyloidosis, primary localized cutaneous, 210.1
30transthyretin amyloidosis10.0
31skin disease10.0KRT5, KRT10, KRT17, IL31
32primary biliary cirrhosis10.0
33neuronitis10.0
34cerebritis10.0
35pleurisy10.0
36cervical cancer9.9BCL2, KRT17, KRT10, KRT5
37psoriasis9.8KRT5, KRT10, KRT17, IL31, CCL2
38lung cancer9.8FAS, BCL2, KRT5
39autoimmune thyroiditis9.8RET, FAS
40glioblastoma9.7BCL2, IL31, FAS, OSMR
41breast cancer9.6KRT5, KRT17, BCL2, FAS
42melanoma9.6OSMR, FAS, IL31, BCL2
43tongue squamous cell carcinoma9.6KRT5, KRT10, KRT17, BCL2, FAS
44adenocarcinoma9.5FAS, BCL2, KRT17, KRT10, 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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Clinical features from OMIM:

613955,105250

Drugs & Therapeutics for Primary Cutaneous Amyloidosis

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Drug clinical trials:

Search ClinicalTrials for Primary Cutaneous Amyloidosis

Search NIH Clinical Center for Primary Cutaneous Amyloidosis

Genetic Tests for Primary Cutaneous Amyloidosis

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Anatomical Context for Primary Cutaneous Amyloidosis

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MalaCards organs/tissues related to Primary Cutaneous Amyloidosis:

32
Skin, B cells

Animal Models for Primary Cutaneous Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Primary Cutaneous Amyloidosis:

36
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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Articles related to Primary Cutaneous Amyloidosis:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Amyloidosis cutis dyschromia: a rare form of primary cutaneous amyloidosis. (24746296)
2014
2
Nodular localized primary cutaneous amyloidosis: a bullous variant. (24635076)
2014
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
Reactive eccrine syringofibroadenomatosis secondary to primary cutaneous amyloidosis: a novel association. (24325801)
2013
7
Primary cutaneous amyloidosis: a clinico-pathological study with emphasis on polarized microscopy. (22771637)
2012
8
Poikiloderma-like primary cutaneous amyloidosis confined to the calves in a Chinese man. (22776500)
2012
9
Characteristic dermoscopic features of primary cutaneous amyloidosis: a study of 35 cases. (22632408)
2012
10
Primary cutaneous amyloidosis of the external ear: a clinicopathological and immunohistochemical study of 17 cases. (22077601)
2012
11
Nodular localized primary cutaneous amyloidosis and primary marginal zone B-cell lymphoma on the nose: treatment with microscopically controlled surgery. (21413960)
2011
12
Unusual primary cutaneous amyloidosis with an incontinentia pigmenti-like pattern. (21413964)
2011
13
Role of oligomers in the amyloidogenesis of primary cutaneous amyloidosis. (21669474)
2011
14
Association of primary cutaneous amyloidosis with atopic dermatitis: a nationwide population-based study in Taiwan. (21070198)
2011
15
Dramatic improvement of primary cutaneous amyloidosis with thalidomide. (21382777)
2011
16
A rare type of primary cutaneous amyloidosis: amyloidosis cutis dyschromica. (21091677)
2010
17
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. (19690585)
2010
18
Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis. (19466957)
2009
19
Papules and plaques on the nose. Nodular localized primary cutaneous amyloidosis. (17438189)
2007
20
Genome-wide scan identifies a susceptibility locus for familial primary cutaneous amyloidosis on chromosome 5p13.1-q11.2. (17107390)
2006
21
A comparative study of two Congo red stains for the detection of primary cutaneous amyloidosis. (16844537)
2006
22
Primary cutaneous amyloidosis of the auricular concha: case report and review of published work. (16556282)
2006
23
Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23. (15656797)
2005
24
Nodular localized primary cutaneous amyloidosis. (12174132)
2002
25
Primary cutaneous amyloidosis. (11991040)
2002
26
Primary cutaneous amyloidosis involving the external ears along with the classical sites. (17664705)
2001
27
Clinical and histopathological characteristics of primary cutaneous amyloidosis in 794 Chinese patients. (11355326)
2001
28
Familial primary cutaneous amyloidosis in a South African family. (10606942)
1999
29
Apoptosis in primary cutaneous amyloidosis. (10733268)
1999
30
Cytokeratins in primary cutaneous amyloidosis. (9611375)
1998
31
Primary cutaneous amyloidosis. (20944287)
1997
32
Epstein-Barr virus-related primary cutaneous amyloidosis. Successful treatment with acyclovir and interferon-alpha. (8745909)
1996
33
Genetic heterogeneity of familial primary cutaneous amyloidosis: lack of evidence for linkage with the chromosome 10 pericentromeric region in Chinese families. (8752835)
1996
34
Unusual manifestations of primary cutaneous amyloidosis in association with Raynaud's phenomenon and livedo reticularis. (1516235)
1992
35
Diffuse primary cutaneous amyloidosis. (1476924)
1992
36
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
37
Primary cutaneous amyloidosis of the auricular concha. (3279082)
1988
38
Nodular localized primary cutaneous amyloidosis. (3504756)
1987
39
A monoclonal anti-keratin antibody reactive with amyloid deposit of primary cutaneous amyloidosis. (2449480)
1987
40
Nodular primary cutaneous amyloidosis. Isolation and characterization of amyloid fibrils. (3789778)
1986
41
Primary cutaneous amyloidosis: identically distributed lesions in identical twins. (3725702)
1986
42
Familial primary cutaneous amyloidosis. (3970841)
1985
43
Primary cutaneous amyloidosis in Sri Lanka. (3842097)
1985
44
Primary cutaneous amyloidosis. (6409527)
1983
45
Primary cutaneous amyloidosis: clinical, laboratorial and histopathological study of 25 cases. Identification of gammaglobulins and C3 in the lesions by immunofluorescence. (6987109)
1980
46
Familial primary cutaneous amyloidosis. Clinical, genetic, and immunofluorescent studies. (354533)
1978
47
Primary cutaneous amyloidosis : clinical, histological, histochemical immunofluorescent and peroxidase studies of 134 cases in 2 years. (978070)
1976
48
Coeliac disease with primary cutaneous amyloidosis. (1156539)
1975
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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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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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 pathway37
Regulation of toll-like receptor signaling pathway37
8.5FAS, CCL2, BCL2
8
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
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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Compounds related to Primary Cutaneous Amyloidosis according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1calcipotriol44 61 28 1113.2KRT10, KRT5
2acitretin44 1111.1KRT5, KRT17
3caffeic acid phenethyl ester449.7FAS, CCL2
4tpck449.7CCL2, FAS
5shikonin449.5BCL2, CCL2
6tanshinone iia449.5BCL2, FAS
7oridonin449.4BCL2, FAS
8beta-lapachone449.4FAS, BCL2
9hoechst 33342449.4FAS, BCL2
10vitamin e succinate449.4FAS, BCL2
11vitamin a44 24 1111.4FAS, RET, KRT5
12triptolide449.4CCL2, BCL2
13noxa449.3BCL2, FAS
14cd 437449.3FAS, BCL2
15herbimycin a44 6110.3CCL2, RET, FAS
162-chlorodeoxyadenosine449.3FAS, BCL2
17vitamin d449.2FAS, CCL2, KRT10
18agar449.2FAS, RET, CCL2
19dutp449.2KRT10, BCL2, FAS
20gp 130449.2OSMR, FAS, IL31, IL31RA
21ribonucleic acid449.2FAS, RET, CCL2
223-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.1BCL2, FAS
23retinoid449.1BCL2, KRT17, KRT10, KRT5
24sulforaphane449.1FAS, BCL2
25depsipeptide449.0BCL2, FAS
26fludarabine44 50 1111.0BCL2, FAS
27suberoylanilide hydroxamic acid448.9BCL2, FAS
28sp 60012544 619.9BCL2, CCL2, FAS
29egcg448.9BCL2, CCL2, FAS
30mg 13244 619.9FAS, CCL2, BCL2
31aspartate448.9FAS, RET, CCL2, KRT5
32testosterone44 61 24 1111.9KRT5, CCL2, RET, FAS
335fluorouracil448.9FAS, CCL2, BCL2
34n acetylcysteine448.8BCL2, CCL2, FAS
35butyrate448.8BCL2, RET, FAS
36sb 20358044 619.7FAS, CCL2, BCL2
37arginine448.7FAS, RET, CCL2, KRT10, KRT5
38oligonucleotide448.6KRT17, BCL2, RET, FAS
39dexamethasone44 50 28 1111.6KRT10, BCL2, CCL2, FAS
40pd 98,059448.5FAS, RET, CCL2, BCL2
41ly294002448.5BCL2, CCL2, RET, FAS
42wortmannin448.5FAS, RET, CCL2, BCL2
43vegf448.3BCL2, CCL2, RET, FAS
44phosphatidylinositol448.3FAS, RET, CCL2, BCL2
45actinomycin d448.2FAS, CCL2, BCL2
46tyrosine448.1OSMR, YARS, FAS, RET, KRT17, KRT10
47genistein44 28 61 2 24 1113.1FAS, RET, CCL2, BCL2, KRT5
48retinoic acid44 249.0FAS, RET, BCL2, KRT17, KRT10, KRT5
49paraffin447.5KRT5, KRT10, KRT17, BCL2, CCL2, RET
50serine447.5FAS, RET, CCL2, BCL2, KRT17, KRT10

GO Terms for genes affiliated with Primary Cutaneous Amyloidosis

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

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

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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet