MCID: PRM001
MIFTS: 58

Primary Cutaneous Amyloidosis malady

Genetic diseases, Rare diseases, Skin diseases categories

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 prostate cancer, and has symptoms including abnormality of skin pigmentation, lichenification and pruritus. An important gene associated with Primary Cutaneous Amyloidosis is IL31RA (interleukin 31 receptor A), 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:10 An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.

Aliases & Classifications for Primary Cutaneous Amyloidosis

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Sources:
10Disease Ontology, 43NIH Rare Diseases, 12DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Primary Cutaneous Amyloidosis, Aliases & Descriptions:

Name: Primary Cutaneous Amyloidosis 10 12
Familial Primary Localized Cutaneous Amyloidosis 10 49 62
Primary Localized Cutaneous Nodular Amyloidosis 43 49
Primary Localized Cutaneous Amyloidosis 43 62
Amyloidosis, Primary Cutaneous 45 62
Nodular Cutaneous Amyloidosis 43 49
Lichen Amyloidosis 43 49
Lichen Amyloidosus 43 49
Amyloid Lichen 43 49
 
Amyloidosis Ix 43 62
Plcna 43 49
Amyloidosis Familial Cutaneous Lichen 43
Amyloidosis Primary Cutaneous 43
Lichen Amyloidosis Familial 43
Amyloidosis 9 43
Fplca 49
Plca 43
Pca 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 49 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

49
familial primary localized cutaneous amyloidosis:
Inheritance: Autosomal dominant; Age of onset: All ages


External Ids:

Disease Ontology10 DOID:0050639
Orphanet49 137810, 353220, 49804
ICD10 via Orphanet28 E85.4+, L99.0*, E85+
UMLS via Orphanet63 C0546394

Related Diseases for Primary Cutaneous Amyloidosis

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Diseases in the Primary Cutaneous Amyloidosis family:

Amyloidosis, Primary Localized Cutaneous, 1 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 55)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.5KRT10, RET, OSMR
2prostate cancer30.7KRT5, BCL2, FAS
3atopic dermatitis30.2IL31, OSMR
4multiple endocrine neoplasia10.7
5prostatitis10.5
6posterior cortical atrophy10.4
7thyroiditis10.4
8calcinosis10.4
9esophagitis10.4
10amyloidosis, primary localized cutaneous, 110.3
11epidermolysis bullosa pruriginosa10.3
12epidermolysis bullosa10.3
13macular amyloidosis10.3
14pulmonary sarcoidosis10.2
15moyamoya disease10.2
16b-cell lymphomas10.1
17marginal zone b-cell lymphoma10.1
18dermatitis10.1
19amyloidosis cutis dyschromia10.1
20pheochromocytoma10.1
21alagille syndrome10.1
22multiple endocrine neoplasia iia10.1
23autoimmune thyroiditis10.1
24ganglioneuroma10.1
25porokeratosis10.1
26hyperthyroidism10.1
27lipodystrophy10.1
28spondylitis10.1
29notalgia paresthetica10.1
30amyloidosis, primary localized cutaneous, 210.1
31epidermolytic hyperkeratosis10.1KRT10
32pachyonychia congenita10.0KRT17
33steatocystoma multiplex10.0KRT17, KRT10
34primary biliary cirrhosis10.0
35neuronitis10.0
36cerebritis10.0
37pleurisy10.0
38keratoacanthoma10.0KRT10, KRT17
39bowen syndrome10.0KRT17, KRT10
40keratosis10.0KRT5, KRT10
41cervical intraepithelial neoplasia10.0KRT10, KRT17
42uveitis10.0CCL2
43palmoplantar keratosis10.0KRT17, KRT10, KRT5
44epidermolysis bullosa simplex10.0KRT17, KRT10, KRT5
45basal cell carcinoma10.0KRT10, KRT17, BCL2
46skin disease10.0KRT5, KRT10, KRT17, IL31
47cervical cancer, somatic10.0BCL2, KRT17, KRT10, KRT5
48psoriasis10.0KRT5, KRT10, KRT17, IL31, CCL2
49lung cancer10.0FAS, BCL2, KRT5
50hashimoto thyroiditis10.0RET, FAS

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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Symptoms:

 49
  • lichen
  • follicular/erythematous/edematous papules/milium
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • pruritus/itching
  • neoplasms/tumors
  • multiple myeloma

HPO human phenotypes related to Primary Cutaneous Amyloidosis:

id Description Frequency HPO Source Accession
1 abnormality of skin pigmentation hallmark (90%) HP:0001000
2 lichenification hallmark (90%) HP:0100725
3 pruritus typical (50%) HP:0000989
4 multiple myeloma occasional (7.5%) HP:0006775

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:

33
Skin, B cells

Animal Models for Primary Cutaneous Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Primary Cutaneous Amyloidosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7FAS, RET, KRT10, KRT5
2MP:00011868.2CCL2, BCL2, KRT17, FAS
3MP:00020067.9KRT10, FAS, RET, BCL2, CCL2
4MP:00053827.7CCL2, FAS, BCL2, KRT17, KRT10, KRT5
5MP:00107717.6KRT10, KRT17, BCL2, CCL2, KRT5, FAS
6MP:00053817.5BCL2, KRT17, KRT5, RET, FAS, CCL2
7MP:00053977.4OSMR, FAS, RET, CCL2, IL31RA, BCL2
8MP:00053877.2KRT10, BCL2, IL31RA, CCL2, RET, FAS
9MP:00107686.7KRT5, EARS2, FAS, RET, CCL2, BCL2

Publications for Primary Cutaneous Amyloidosis

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Articles related to Primary Cutaneous Amyloidosis:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Health-related quality of life in patients with primary cutaneous amyloidosis. (25799390)
2015
2
Amyloidosis cutis dyschromia: a rare form of primary cutaneous amyloidosis. (24746296)
2014
3
Nodular localized primary cutaneous amyloidosis: a bullous variant. (24635076)
2014
4
Primary cutaneous amyloidosis of the glans penis. Two case reports and a review of the literature. (24125073)
2013
5
Thalidomide improves clinical symptoms of primary cutaneous amyloidosis: report of familiar and sporadic cases. (23742287)
2013
6
MCP-1 as an effector of IL-31 signaling in familial primary cutaneous amyloidosis. (23303452)
2013
7
Reactive eccrine syringofibroadenomatosis secondary to primary cutaneous amyloidosis: a novel association. (24325801)
2013
8
Primary cutaneous amyloidosis: a clinico-pathological study with emphasis on polarized microscopy. (22771637)
2012
9
Poikiloderma-like primary cutaneous amyloidosis confined to the calves in a Chinese man. (22776500)
2012
10
Characteristic dermoscopic features of primary cutaneous amyloidosis: a study of 35 cases. (22632408)
2012
11
Primary cutaneous amyloidosis of the external ear: a clinicopathological and immunohistochemical study of 17 cases. (22077601)
2012
12
Nodular localized primary cutaneous amyloidosis and primary marginal zone B-cell lymphoma on the nose: treatment with microscopically controlled surgery. (21413960)
2011
13
Unusual primary cutaneous amyloidosis with an incontinentia pigmenti-like pattern. (21413964)
2011
14
Role of oligomers in the amyloidogenesis of primary cutaneous amyloidosis. (21669474)
2011
15
Association of primary cutaneous amyloidosis with atopic dermatitis: a nationwide population-based study in Taiwan. (21070198)
2011
16
Dramatic improvement of primary cutaneous amyloidosis with thalidomide. (21382777)
2011
17
A rare type of primary cutaneous amyloidosis: amyloidosis cutis dyschromica. (21091677)
2010
18
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. (19690585)
2010
19
Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis. (19466957)
2009
20
Papules and plaques on the nose. Nodular localized primary cutaneous amyloidosis. (17438189)
2007
21
Genome-wide scan identifies a susceptibility locus for familial primary cutaneous amyloidosis on chromosome 5p13.1-q11.2. (17107390)
2006
22
A comparative study of two Congo red stains for the detection of primary cutaneous amyloidosis. (16844537)
2006
23
Primary cutaneous amyloidosis of the auricular concha: case report and review of published work. (16556282)
2006
24
Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23. (15656797)
2005
25
Nodular localized primary cutaneous amyloidosis. (12174132)
2002
26
Primary cutaneous amyloidosis. (11991040)
2002
27
Primary cutaneous amyloidosis involving the external ears along with the classical sites. (17664705)
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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Clinvar genetic disease variations for Primary Cutaneous Amyloidosis:

7
id Gene Variation Type Significance SNP ID Assembly Location
1OSMRNM_003999.2(OSMR): c.1940A> T (p.Asp647Val)single nucleotide variantPathogenicrs387906821GRCh37Chr 5, 38924593: 38924593
2OSMRNM_003999.2(OSMR): c.2081C> T (p.Pro694Leu)single nucleotide variantPathogenicrs387906822GRCh37Chr 5, 38925342: 38925342
3OSMRNM_003999.2(OSMR): c.2090A> C (p.Lys697Thr)single nucleotide variantPathogenicrs387906823GRCh37Chr 5, 38925351: 38925351
4IL31RAIL31RA, SER521PHEsingle nucleotide variantPathogenic
5OSMRNM_003999.2(OSMR): c.2072T> C (p.Ile691Thr)single nucleotide variantPathogenicrs63750567GRCh37Chr 5, 38925333: 38925333
6OSMRNM_003999.2(OSMR): c.1853G> C (p.Gly618Ala)single nucleotide variantPathogenicrs63750560GRCh37Chr 5, 38923339: 38923339

Expression for genes affiliated with Primary Cutaneous Amyloidosis

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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
39.5KRT17, KRT10, KRT5
4
Show member pathways
9.0BCL2, FAS
5
Show member pathways
9.0BCL2, FAS
68.6BCL2, RET, FAS
7
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
8.5FAS, CCL2, BCL2
8
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway38
Apoptosis Modulation by HSP7038
HIV-1 Nef- Negative effector of Fas and TNF-alpha38
8.5BCL2, CCL2, FAS
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
1calcipotriol45 61 30 1313.2KRT10, KRT5
2acitretin45 1311.1KRT5, KRT17
3caffeic acid phenethyl ester459.7FAS, CCL2
4tpck459.7CCL2, FAS
5shikonin459.5BCL2, CCL2
6tanshinone iia459.5BCL2, FAS
7oridonin459.4BCL2, FAS
8beta-lapachone459.4FAS, BCL2
9hoechst 33342459.4FAS, BCL2
10vitamin e succinate459.4FAS, BCL2
11vitamin a45 26 1311.4FAS, RET, KRT5
12triptolide459.4CCL2, BCL2
13noxa459.3BCL2, FAS
14cd 437459.3FAS, BCL2
15herbimycin a45 6110.3CCL2, RET, FAS
162-chlorodeoxyadenosine459.3FAS, BCL2
17gp 130459.2OSMR, FAS, IL31, IL31RA
18agar459.2FAS, RET, CCL2
19vitamin d459.2FAS, CCL2, KRT10
20dutp459.2KRT10, BCL2, FAS
21ribonucleic acid459.2FAS, RET, CCL2
223-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide459.1BCL2, FAS
23sulforaphane459.1FAS, BCL2
24retinoid459.1BCL2, KRT17, KRT10, KRT5
25depsipeptide459.0BCL2, FAS
26fludarabine45 51 1311.0BCL2, FAS
27suberoylanilide hydroxamic acid458.9BCL2, FAS
28sp 60012545 619.9BCL2, CCL2, FAS
29egcg458.9BCL2, CCL2, FAS
30mg 13245 619.9FAS, CCL2, BCL2
31aspartate458.9FAS, RET, CCL2, KRT5
32testosterone45 61 26 1311.9KRT5, CCL2, RET, FAS
335fluorouracil458.9FAS, CCL2, BCL2
34n acetylcysteine458.8BCL2, CCL2, FAS
35butyrate458.8BCL2, RET, FAS
36sb 20358045 619.7FAS, CCL2, BCL2
37arginine458.6FAS, RET, CCL2, KRT10, KRT5
38oligonucleotide458.6KRT17, BCL2, RET, FAS
39dexamethasone45 51 30 1311.5KRT10, BCL2, CCL2, FAS
40pd 98,059458.5FAS, RET, CCL2, BCL2
41ly294002458.5BCL2, CCL2, RET, FAS
42wortmannin458.5FAS, RET, CCL2, BCL2
43vegf458.3BCL2, CCL2, RET, FAS
44phosphatidylinositol458.3FAS, RET, CCL2, BCL2
45actinomycin d458.2FAS, CCL2, BCL2
46genistein45 30 61 3 26 1313.1FAS, RET, CCL2, BCL2, KRT5
47tyrosine458.1OSMR, YARS, FAS, RET, KRT17, KRT10
48retinoic acid45 269.0FAS, RET, BCL2, KRT17, KRT10, KRT5
49paraffin457.5KRT5, KRT10, KRT17, BCL2, CCL2, RET
50serine457.5FAS, 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:00058829.2KRT5, KRT10, KRT17
2cytoplasmGO:00057377.1FAS, 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:00072599.9CCL2, IL31RA
2tRNA aminoacylation for protein translationGO:00064189.7EARS2, YARS
3positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:020012419.6RET, FAS
4MAPK cascadeGO:00001659.5IL31RA, CCL2, RET
5positive regulation of neuron maturationGO:00140429.5BCL2, RET
6response to gamma radiationGO:00103329.3BCL2, CCL2
7renal system processGO:00030149.3FAS, BCL2
8spleen developmentGO:00485369.2BCL2, FAS
9extrinsic apoptotic signaling pathway via death domain receptorsGO:00086259.1FAS, BCL2
10humoral immune responseGO:00069599.1BCL2, CCL2
11extrinsic apoptotic signaling pathway in absence of ligandGO:00971929.1BCL2, FAS
12response to cytokineGO:00340979.1BCL2, OSMR
13response to glucocorticoidGO:00513848.8BCL2, CCL2, FAS
14response to drugGO:00424938.6BCL2, CCL2, RET
15signal transductionGO:00071658.4KRT17, CCL2, RET, FAS, YARS

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

idNameGO IDScoreTop Affiliating Genes
1tRNA bindingGO:00000499.7YARS, EARS2

Products for genes affiliated with Primary Cutaneous Amyloidosis

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Sources for Primary Cutaneous Amyloidosis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet