MCID: PRM001
MIFTS: 50

Primary Cutaneous Amyloidosis malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Primary Cutaneous Amyloidosis

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Wikipedia:63 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, 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:9 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:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Primary Cutaneous Amyloidosis, Aliases & Descriptions:

Name: Primary Cutaneous Amyloidosis 9 11
Familial Primary Localized Cutaneous Amyloidosis 9 47
Primary Localized Cutaneous Nodular Amyloidosis 41 47
Amyloidosis, Primary Cutaneous 43 60
Nodular Cutaneous Amyloidosis 41 47
Lichen Amyloidosus 41 47
Lichen Amyloidosis 41 47
Amyloid Lichen 41 47
Plcna 41 47
Primary Localized Cutaneous Amyloidosis 41
 
Amyloidosis Familial Cutaneous Lichen 41
Amyloidosis Primary Cutaneous 41
Lichen Amyloidosis Familial 41
Familial Lichen Amyloidosis 60
Amyloidosis Ix 41
Amyloidosis 9 41
Fplca 47
Plca 41
Pca 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
familial primary localized cutaneous amyloidosis:
Inheritance: Autosomal dominant; Age of onset: All ages


External Ids:

Disease Ontology9 DOID:0050639
Orphanet47 137810, 353220, 49804
ICD10 via Orphanet26 E85.4+, L99.0*, E85+
UMLS via Orphanet61 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 Suite gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.7KRT10, RET, OSMR
2atopic dermatitis30.5IL31, OSMR
3prostate cancer30.3KRT5, BCL2, FAS
4multiple endocrine neoplasia10.7
5prostatitis10.5
6epidermolytic hyperkeratosis10.4KRT10
7posterior cortical atrophy10.4
8thyroiditis10.4
9amyloidosis, primary localized cutaneous, 110.4
10pachyonychia congenita10.4KRT17
11calcinosis10.4
12esophagitis10.4
13steatocystoma multiplex10.3KRT17, KRT10
14keratoacanthoma10.3KRT10, KRT17
15bowen syndrome10.3KRT17, KRT10
16epidermolysis bullosa pruriginosa10.3
17epidermolysis bullosa10.3
18macular amyloidosis10.2
19pulmonary sarcoidosis10.2
20palmoplantar keratoderma, nonepidermolytic10.2KRT5, KRT10
21cervical intraepithelial neoplasia10.2KRT10, KRT17
22uveitis10.2CCL2
23moyamoya disease10.2
24palmoplantar keratosis10.2KRT17, KRT10, KRT5
25epidermolysis bullosa simplex10.1KRT17, KRT10, KRT5
26b-cell lymphomas10.1
27marginal zone b-cell lymphoma10.1
28dermatitis10.1
29amyloidosis cutis dyschromia10.1
30pheochromocytoma10.1
31alagille syndrome10.1
32multiple endocrine neoplasia iia10.1
33partington syndrome10.1
34autoimmune thyroiditis10.1
35ganglioneuroma10.1
36porokeratosis10.1
37hyperthyroidism10.1
38lipodystrophy10.1
39spondylitis10.1
40notalgia paresthetica10.1
41basal cell carcinoma10.1KRT10, KRT17, BCL2
42amyloidosis, primary localized cutaneous, 210.1
43primary biliary cirrhosis10.0
44neuronitis10.0
45cerebritis10.0
46pleurisy10.0
47skin disease10.0KRT5, KRT10, KRT17, IL31
48cervical cancer, somatic9.9BCL2, KRT17, KRT10, KRT5
49psoriasis9.8KRT5, KRT10, KRT17, IL31, CCL2
50lung cancer9.7FAS, BCL2, 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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Symptoms:

 47
  • 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:

31
Skin, B cells

Animal Models for Primary Cutaneous Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Primary Cutaneous Amyloidosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7KRT5, 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:00107717.6FAS, 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 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:

6
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 Suite gene sharing:

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 pathway36
Regulation of toll-like receptor signaling pathway36
8.5FAS, CCL2, BCL2
8
Show member pathways
Apoptosis and survival TNFR1 signaling pathway58
TWEAK Signaling Pathway36
Apoptosis Modulation by HSP7036
HIV-1 Nef- Negative effector of Fas and TNF-alpha36
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 Suite gene sharing:

(show all 50)
idCompoundScoreTop Affiliating Genes
1calcipotriol43 59 28 1213.2KRT10, KRT5
2acitretin43 1211.1KRT5, KRT17
3caffeic acid phenethyl ester439.7FAS, CCL2
4tpck439.7CCL2, FAS
5shikonin439.5BCL2, CCL2
6tanshinone iia439.5BCL2, FAS
7oridonin439.4BCL2, FAS
8beta-lapachone439.4FAS, BCL2
9hoechst 33342439.4FAS, BCL2
10vitamin e succinate439.4FAS, BCL2
11vitamin a43 24 1211.4FAS, RET, KRT5
12triptolide439.4CCL2, BCL2
13noxa439.3BCL2, FAS
14cd 437439.3FAS, BCL2
15herbimycin a43 5910.3CCL2, RET, FAS
162-chlorodeoxyadenosine439.3FAS, BCL2
17gp 130439.2OSMR, FAS, IL31, IL31RA
18agar439.2FAS, RET, CCL2
19vitamin d439.2FAS, CCL2, KRT10
20dutp439.2KRT10, BCL2, FAS
21ribonucleic acid439.2FAS, RET, CCL2
223-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide439.1BCL2, FAS
23sulforaphane439.1FAS, BCL2
24retinoid439.1BCL2, KRT17, KRT10, KRT5
25depsipeptide439.0BCL2, FAS
26fludarabine43 49 1211.0BCL2, FAS
27suberoylanilide hydroxamic acid438.9BCL2, FAS
28sp 60012543 599.9BCL2, CCL2, FAS
29egcg438.9BCL2, CCL2, FAS
30mg 13243 599.9FAS, CCL2, BCL2
31aspartate438.9FAS, RET, CCL2, KRT5
32testosterone43 59 24 1211.9KRT5, CCL2, RET, FAS
335fluorouracil438.9FAS, CCL2, BCL2
34n acetylcysteine438.8BCL2, CCL2, FAS
35butyrate438.8BCL2, RET, FAS
36sb 20358043 599.7FAS, CCL2, BCL2
37arginine438.6FAS, RET, CCL2, KRT10, KRT5
38oligonucleotide438.6KRT17, BCL2, RET, FAS
39dexamethasone43 49 28 1211.5KRT10, BCL2, CCL2, FAS
40pd 98,059438.5FAS, RET, CCL2, BCL2
41ly294002438.5BCL2, CCL2, RET, FAS
42wortmannin438.5FAS, RET, CCL2, BCL2
43vegf438.3BCL2, CCL2, RET, FAS
44phosphatidylinositol438.3FAS, RET, CCL2, BCL2
45actinomycin d438.2FAS, CCL2, BCL2
46genistein43 28 59 2 24 1213.1FAS, RET, CCL2, BCL2, KRT5
47tyrosine438.1OSMR, YARS, FAS, RET, KRT17, KRT10
48retinoic acid43 249.0FAS, RET, BCL2, KRT17, KRT10, KRT5
49paraffin437.5KRT5, KRT10, KRT17, BCL2, CCL2, RET
50serine437.5FAS, 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 Suite gene sharing:

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 Suite gene sharing:

(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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1tRNA bindingGO:00000499.7YARS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet