PCA
MCID: PRM001
MIFTS: 51

Primary Cutaneous Amyloidosis (PCA)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Primary Cutaneous Amyloidosis

MalaCards integrated aliases for Primary Cutaneous Amyloidosis:

Name: Primary Cutaneous Amyloidosis 12 76 53 25 15
Primary Localized Cutaneous Amyloidosis 53 25 37
Familial Primary Localized Cutaneous Amyloidosis 12 59
Amyloidosis, Primary Cutaneous 55 73
Amyloidosis Ix 53 25
Plca 53 25
Amyloidosis Familial Cutaneous Lichen 53
Lichen Amyloidosis Familial 53
Familial Lichen Amyloidosis 73
Amyloidosis 9 53
Fplca 59
Pca 12

Characteristics:

Orphanet epidemiological data:

59
familial primary localized cutaneous amyloidosis
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050639
Orphanet 59 ORPHA353220
ICD10 via Orphanet 34 E85.4+ L99.0*
KEGG 37 H01217

Summaries for Primary Cutaneous Amyloidosis

NIH Rare Diseases : 53 Primary cutaneous amyloidosis is a form of amyloidosis, a group of conditions in which an abnormal protein (called amyloid) builds up in various organs and tissues throughout the body. In primary cutaneous amyloidosis, specifically, this protein accumulates in the skin. There are three main forms of primary cutaneous amyloidosis:Lichen amyloidosis - multiple itchy, raised spots which are scaly and red/brown in color. This rash generally affects the shins, thighs, feet and forearms. Macular amyloidosis - mild to severely itchy, flat, dusky-brown or greyish colored spots that may come together to form patches of darkened skin. This rash generally appears on the upper back between the shoulder blades, the chest and less commonly, the arms. Nodular amyloidosis - asymptomatic firm bumps that may be pinkish-brown to red in color. This rash may occur on the trunk, limbs, face, and/or genitals. The exact underlying cause of primary cutaneous amyloidosis is poorly understood. It is sometimes associated with other conditions such as atopic dermatitis, sarcoidosis, and psoriasis. Although most cases occur sporadically in people with no family history of the condition, there are rare familial forms caused by changes (mutations) in the OSMR or IL31RA gene. Treatment is based on the signs and symptoms present in each person and may include surgery to remove amyloid deposits and/or certain medications to relieve itching.

MalaCards based summary : Primary Cutaneous Amyloidosis, also known as primary localized cutaneous amyloidosis, is related to macular amyloidosis and lichen amyloidosis. An important gene associated with Primary Cutaneous Amyloidosis is OSMR (Oncostatin M Receptor), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and JAK-STAT signaling pathway. The drugs Methylene blue and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and b cells, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.

Wikipedia : 76 Primary cutaneous amyloidosis is a form of amyloidosis associated with oncostatin M receptor. This type... more...

Related Diseases for Primary Cutaneous Amyloidosis

Diseases in the Primary Cutaneous Amyloidosis family:

Amyloidosis, Primary Localized Cutaneous, 1 Amyloidosis, Primary Localized Cutaneous, 2
Amyloidosis, Primary Localized Cutaneous, 3

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

(show top 50) (show all 178)
# Related Disease Score Top Affiliating Genes
1 macular amyloidosis 30.6 IL31RA OSMR
2 lichen amyloidosis 30.4 IL31 IL31RA OSMR
3 posterior cortical atrophy 12.0
4 amyloidosis, primary localized cutaneous, 3 11.5
5 amyloidosis, primary localized cutaneous, 1 11.3
6 amyloidosis, primary localized cutaneous, 2 11.1
7 choanal atresia, posterior 11.1
8 amyloidosis 10.7
9 prostate cancer 10.4
10 acanthoma 10.3 KRT10 KRT17
11 inverted transitional papilloma 10.3 KRT5 KRT7
12 clear cell basal cell carcinoma 10.3 KRT17 KRT7
13 balloon cell malignant melanoma 10.3 KRT5 KRT7
14 endolymphatic sac tumor 10.3 KRT7 KRT8
15 ceruminoma 10.3 KRT5 KRT7
16 breast adenoma 10.3 KRT17 OSMR
17 idiopathic corneal edema 10.3 KRT19 KRT8
18 malignant spiradenoma 10.3 KRT5 KRT7
19 benign mesothelioma 10.3 KRT5 KRT7
20 neurenteric cyst 10.3 KRT18 KRT8
21 lichen planopilaris 10.3 KRT14 KRT5
22 intrahepatic bile duct adenoma 10.3 KRT19 KRT7
23 epidermolysis bullosa simplex, autosomal recessive 1 10.3 KRT14 KRT5
24 sensory organ benign neoplasm 10.2 KRT5 KRT7
25 benign breast adenomyoepithelioma 10.2 KRT14 KRT5 KRT7
26 breast adenomyoepithelioma 10.2 KRT14 KRT5 KRT7
27 anal gland adenocarcinoma 10.2 KRT19 KRT7
28 prostate squamous cell carcinoma 10.2 KRT5 KRT7 KRT8
29 oncocytic breast carcinoma 10.2 KRT14 KRT7
30 nasal cavity squamous cell carcinoma 10.2 KRT5 KRT7 KRT8
31 atypical choroid plexus papilloma 10.2 KRT5 KRT7 KRT8
32 breast secretory carcinoma 10.2 KRT5 KRT7 KRT8
33 hidrocystoma 10.2 KRT7 KRT8
34 bile duct mucoepidermoid carcinoma 10.2 KRT5 KRT7
35 transitional papilloma 10.2 KRT17 KRT18
36 brooke-spiegler syndrome 10.2 KRT14 KRT7 KRT8
37 breast myoepithelial neoplasm 10.2 KRT14 KRT5 KRT7
38 palmoplantar keratoderma, bothnian type 10.2 KRT16 KRT17
39 middle ear adenoma 10.2 KRT5 KRT7
40 anus adenocarcinoma 10.2 KRT19 KRT7
41 sweat gland disease 10.2 KRT14 KRT5 KRT7
42 tonsil cancer 10.2 KRT14 KRT5 KRT7
43 malignant biphasic mesothelioma 10.2 KRT10 KRT5 KRT7
44 predominantly cortical thymoma 10.2 KRT14 KRT19
45 oropharynx cancer 10.2 KRT14 KRT5 KRT7
46 adenosquamous carcinoma 10.2 KRT5 KRT7 KRT8
47 breast squamous cell carcinoma 10.2 KRT10 KRT14 KRT5
48 epidermolysis bullosa simplex 10.2 KRT10 KRT14 KRT5
49 epidermolysis bullosa simplex with mottled pigmentation 10.2 KRT10 KRT14 KRT5
50 gastric squamous cell carcinoma 10.2 KRT10 KRT5 KRT7

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



Diseases related to Primary Cutaneous Amyloidosis

Symptoms & Phenotypes for Primary Cutaneous Amyloidosis

GenomeRNAi Phenotypes related to Primary Cutaneous Amyloidosis according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.91 KRT5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.91 KRT18
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.91 KRT18 KRT5
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.91 KRT5 KRT8
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.91 KRT5
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.91 KRT18
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.91 KRT8
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.91 KRT7
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.91 KRT18 KRT5 KRT7 KRT8
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.91 KRT7
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.91 KRT18
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.91 KRT5 KRT7
13 Reduced mammosphere formation GR00396-S 9.17 CALM1 CALM2 CALM3 CCL2 KRT18 KRT7

MGI Mouse Phenotypes related to Primary Cutaneous Amyloidosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.17 KRT14 KRT16 KRT17 KRT19 KRT5 KRT8

Drugs & Therapeutics for Primary Cutaneous Amyloidosis

Drugs for Primary Cutaneous Amyloidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylene blue Approved, Investigational Not Applicable 61-73-4
2 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of 308-nm Excimer Laser for Primary Localized Cutaneous Amyloidosis Treatment in Asians Recruiting NCT03068156 Not Applicable
2 Efficacy of Methylene Blue Mediated Photodynamic Therapy for Primary Localized Cutaneous Amyloidosis Treatment in Asians Not yet recruiting NCT03068208 Not Applicable

Search NIH Clinical Center for Primary Cutaneous Amyloidosis

Genetic Tests for Primary Cutaneous Amyloidosis

Anatomical Context for Primary Cutaneous Amyloidosis

MalaCards organs/tissues related to Primary Cutaneous Amyloidosis:

41
Skin, Thyroid, B Cells, Lung, Liver, Eye, Prostate

Publications for Primary Cutaneous Amyloidosis

Articles related to Primary Cutaneous Amyloidosis:

(show top 50) (show all 103)
# Title Authors Year
1
Primary cutaneous amyloidosis associated with autoimmune hepatitis-primary biliary cirrhosis overlap syndrome and SjAPgren syndrome: A case report. ( 29465536 )
2018
2
Primary Localized Cutaneous Amyloidosis Affecting Female Individuals of a Pakistani Pedigree. ( 30308545 )
2018
3
Corrigendum to "Familial primary localized cutaneous amyloidosis in a Japanese family" [J. Dermatol. Sci. 83 (2016) 162-164]. ( 29146130 )
2018
4
Primary Cutaneous Amyloidosis: A Clinical, Histopathological and Immunofluorescence Study. ( 28969251 )
2017
5
An unusual presentation of primary cutaneous amyloidosis. ( 29469741 )
2017
6
Reflectance confocal microscopy for the characterization of primary cutaneous amyloidosis: a pilot study. ( 28083882 )
2017
7
Comparative proteomics analysis of primary cutaneous amyloidosis. ( 28912854 )
2017
8
Primary cutaneous amyloidosis of the auricular concha - case report. ( 29186270 )
2017
9
Primary Localized Cutaneous Amyloidosis: A Systematic Treatment Review. ( 28342017 )
2017
10
Treatment of primary cutaneous amyloidosis with laser: a review of the literature. ( 26984345 )
2016
11
Pathophysiology of pruritus in primary localized cutaneous amyloidosis. ( 26748444 )
2016
12
Interleukin-31 receptor and pruritus associated with primary localized cutaneous amyloidosis. ( 26941119 )
2016
13
Poikiloderma-like cutaneous amyloidosis--a rare presentation of primary localized cutaneous amyloidosis. ( 26990468 )
2016
14
Primary Localized Cutaneous Amyloidosis and Human Leukocyte Antigen A and -B in a Chinese Population. ( 27072740 )
2016
15
Familial primary localized cutaneous amyloidosis in a Japanese family. ( 27289340 )
2016
16
Interleukin-31 receptor and pruritus associated with primary localized cutaneous amyloidosis: reply from the authors. ( 27312696 )
2016
17
Primary localized cutaneous amyloidosis with lichen and poikiloderma-like lesions and an excellent response to systemic acitretin. ( 27828646 )
2016
18
Health-related quality of life in patients with primary cutaneous amyloidosis. ( 25799390 )
2015
19
Efficacy of different modes of fractional CO2 laser in the treatment of primary cutaneous amyloidosis: A randomized clinical trial. ( 25946210 )
2015
20
Amyloidosis cutis dyschromia: a rare form of primary cutaneous amyloidosis. ( 24746296 )
2014
21
Nodular localized primary cutaneous amyloidosis: a bullous variant. ( 24635076 )
2014
22
Unilateral primary cutaneous amyloidosis of the eyelid masquerading as a chalazion. ( 25284111 )
2014
23
Primary localized cutaneous amyloidosis: a clinical diagnosis. ( 25335358 )
2014
24
Reactive eccrine syringofibroadenomatosis secondary to primary cutaneous amyloidosis: a novel association. ( 24325801 )
2013
25
MCP-1 as an effector of IL-31 signaling in familial primary cutaneous amyloidosis. ( 23303452 )
2013
26
Primary cutaneous amyloidosis of the glans penis. Two case reports and a review of the literature. ( 24125073 )
2013
27
Thalidomide improves clinical symptoms of primary cutaneous amyloidosis: report of familiar and sporadic cases. ( 23742287 )
2013
28
Poikiloderma-like primary cutaneous amyloidosis confined to the calves in a Chinese man. ( 22776500 )
2012
29
Primary cutaneous amyloidosis of the external ear: a clinicopathological and immunohistochemical study of 17 cases. ( 22077601 )
2012
30
Characteristic dermoscopic features of primary cutaneous amyloidosis: a study of 35 cases. ( 22632408 )
2012
31
Primary cutaneous amyloidosis: a clinico-pathological study with emphasis on polarized microscopy. ( 22771637 )
2012
32
Primary localized cutaneous amyloidosis intermingled with papulopustular lesions in a patient with Behçet's disease. ( 20473498 )
2012
33
Association of primary cutaneous amyloidosis with atopic dermatitis: a nationwide population-based study in Taiwan. ( 21070198 )
2011
34
Role of oligomers in the amyloidogenesis of primary cutaneous amyloidosis. ( 21669474 )
2011
35
Nodular localized primary cutaneous amyloidosis and primary marginal zone B-cell lymphoma on the nose: treatment with microscopically controlled surgery. ( 21413960 )
2011
36
Unusual primary cutaneous amyloidosis with an incontinentia pigmenti-like pattern. ( 21413964 )
2011
37
Dramatic improvement of primary cutaneous amyloidosis with thalidomide. ( 21382777 )
2011
38
Case of primary localized cutaneous amyloidosis with protean clinical manifestations: lichen, poikiloderma-like, dyschromic and bullous variants. ( 21933256 )
2011
39
A rare type of primary cutaneous amyloidosis: amyloidosis cutis dyschromica. ( 21091677 )
2010
40
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. ( 19690585 )
2010
41
Primary localized cutaneous amyloidosis in patients with scleroderma. ( 20526567 )
2010
42
A rare co-occurrence of primary localized cutaneous amyloidosis and chronic C type hepatitis. ( 21128925 )
2010
43
Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis. ( 19466957 )
2009
44
Papules and plaques on the nose. Nodular localized primary cutaneous amyloidosis. ( 17438189 )
2007
45
Primary localized cutaneous amyloidosis with unusual clinical features in a patient with Sjögren's syndrome. ( 17535407 )
2007
46
Nodular primary localized cutaneous amyloidosis after trauma: a case report and discussion of the rate of progression to systemic amyloidosis. ( 17637365 )
2007
47
Primary cutaneous amyloidosis of the auricular concha: case report and review of published work. ( 16556282 )
2006
48
A comparative study of two Congo red stains for the detection of primary cutaneous amyloidosis. ( 16844537 )
2006
49
Genome-wide scan identifies a susceptibility locus for familial primary cutaneous amyloidosis on chromosome 5p13.1-q11.2. ( 17107390 )
2006
50
Excision and split thickness skin grafting in the treatment of nodular primary localized cutaneous amyloidosis. ( 16709507 )
2006

Variations for Primary Cutaneous Amyloidosis

Expression for Primary Cutaneous Amyloidosis

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

Pathways for Primary Cutaneous Amyloidosis

Pathways related to Primary Cutaneous Amyloidosis according to KEGG:

37
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060
2 JAK-STAT signaling pathway hsa04630

Pathways related to Primary Cutaneous Amyloidosis according to GeneCards Suite gene sharing:

(show all 49)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 CALM1 CALM2 CALM3 CCL2 IL31 IL31RA
2
Show member pathways
13.15 CALM1 CALM2 CALM3 KRT10 KRT14 KRT16
3
Show member pathways
12.81 CALM1 CALM2 CALM3 MYLK TNNT1
4
Show member pathways
12.78 CALM1 CALM2 CALM3 KRT10 KRT14 KRT16
5
Show member pathways
12.4 CALM1 CALM2 CALM3 MYLK
6
Show member pathways
12.38 CALM1 CALM2 CALM3 MYLK
7 12.35 KRT10 KRT17 KRT18 KRT19 KRT5 KRT7
8
Show member pathways
12.29 CALM1 CALM2 CALM3 MYLK
9
Show member pathways
12.2 CALM1 CALM2 CALM3 CCL2 MYLK
10
Show member pathways
12.19 CALM1 CALM2 CALM3 MYLK
11
Show member pathways
12.12 CALM1 CALM2 CALM3 MYLK
12
Show member pathways
12.06 KRT10 KRT14 KRT16 KRT17 KRT18 KRT19
13 12.04 CALM1 CALM2 CALM3 CCL2
14 12.03 CALM1 CALM2 CALM3 MYLK
15
Show member pathways
11.91 CALM1 CALM2 CALM3
16 11.89 CALM1 CALM2 CALM3
17 11.89 CALM1 CALM2 CALM3
18
Show member pathways
11.86 CALM1 CALM2 CALM3
19
Show member pathways
11.83 CALM1 CALM2 CALM3
20
Show member pathways
11.83 CALM1 CALM2 CALM3
21 11.77 KRT14 KRT17 KRT5
22
Show member pathways
11.74 CALM1 CALM2 CALM3
23
Show member pathways
11.73 CALM1 CALM2 CALM3
24
Show member pathways
11.72 CALM1 CALM2 CALM3
25 11.72 CALM1 CALM2 CALM3
26
Show member pathways
11.71 CALM1 CALM2 CALM3
27 11.7 CALM1 CALM2 CALM3
28
Show member pathways
11.64 CALM1 CALM2 CALM3
29 11.63 CALM1 CALM2 CALM3
30 11.6 CALM1 CALM2 CALM3
31
Show member pathways
11.59 CALM1 CALM2 CALM3
32 11.5 CALM1 CALM2 CALM3 MYLK
33 11.49 CALM1 CALM2 CALM3
34 11.47 CALM1 CALM2 CALM3 MYLK
35 11.37 CALM1 CALM2 CALM3 MYLK
36 11.32 CALM1 CALM2 CALM3
37 11.29 CALM1 CALM2 CALM3
38 11.27 CALM1 CALM2 MYLK
39
Show member pathways
11.26 KRT14 KRT16 KRT17 KRT18 KRT19 KRT5
40 11.24 CALM1 CALM2 CALM3
41 11.23 CALM1 CALM2 CALM3 MYLK
42 11.2 CALM1 CALM2 CALM3
43 11.16 CALM1 CALM2 CALM3
44 11.15 CALM1 CALM2 CALM3
45 11.13 CALM1 CALM2 CALM3
46 11 CALM1 CALM2 CALM3
47 10.91 CALM1 CALM2 CALM3
48 10.89 CALM1 CALM2 CALM3
49 10.69 CALM1 CALM2 CALM3

GO Terms for Primary Cutaneous Amyloidosis

Cellular components related to Primary Cutaneous Amyloidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 9.61 CALM1 CALM2 CALM3
2 keratin filament GO:0045095 9.55 KRT14 KRT18 KRT5 KRT7 KRT8
3 spindle microtubule GO:0005876 9.54 CALM1 CALM2 CALM3
4 calcium channel complex GO:0034704 9.5 CALM1 CALM2 CALM3
5 catalytic complex GO:1902494 9.43 CALM1 CALM2 CALM3
6 cell periphery GO:0071944 9.35 KRT14 KRT17 KRT18 KRT19 KRT8
7 intermediate filament GO:0005882 9.28 KRT10 KRT14 KRT16 KRT17 KRT18 KRT19
8 cytosol GO:0005829 10.23 CALM1 KRT10 KRT14 KRT16 KRT17 KRT18
9 extracellular exosome GO:0070062 10.06 KRT10 KRT14 KRT16 KRT17 KRT18 KRT19

Biological processes related to Primary Cutaneous Amyloidosis according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.96 CCL2 IL31 IL31RA OSMR
2 cytoskeleton organization GO:0007010 9.92 CCL2 KRT16 KRT17 KRT5
3 epidermis development GO:0008544 9.87 KRT14 KRT16 KRT17 KRT5
4 calcium-mediated signaling GO:0019722 9.83 CALM1 CALM2 CALM3
5 response to calcium ion GO:0051592 9.81 CALM1 CALM2 CALM3
6 positive regulation of protein serine/threonine kinase activity GO:0071902 9.79 CALM1 CALM2 CALM3
7 substantia nigra development GO:0021762 9.78 CALM1 CALM2 CALM3
8 regulation of cytokinesis GO:0032465 9.77 CALM1 CALM2 CALM3
9 sarcomere organization GO:0045214 9.77 KRT19 KRT8 TNNT1
10 regulation of heart rate GO:0002027 9.76 CALM1 CALM2 CALM3
11 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.75 CALM1 CALM2 CALM3
12 positive regulation of protein dephosphorylation GO:0035307 9.72 CALM1 CALM2 CALM3
13 positive regulation of protein autophosphorylation GO:0031954 9.71 CALM1 CALM2 CALM3
14 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.7 CALM1 CALM2 CALM3
15 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.69 CALM1 CALM2 CALM3
16 regulation of cardiac muscle contraction GO:0055117 9.67 CALM1 CALM2 CALM3
17 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.66 CALM1 CALM3
18 hemidesmosome assembly GO:0031581 9.65 KRT14 KRT5
19 regulation of synaptic vesicle endocytosis GO:1900242 9.65 CALM1 CALM3
20 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.65 CALM1 CALM2 CALM3
21 establishment of protein localization to membrane GO:0090150 9.64 CALM1 CALM3
22 hepatocyte apoptotic process GO:0097284 9.64 KRT18 KRT8
23 regulation of high voltage-gated calcium channel activity GO:1901841 9.63 CALM1 CALM3
24 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.63 CALM1 CALM2 CALM3
25 cell differentiation involved in embryonic placenta development GO:0060706 9.62 KRT19 KRT8
26 detection of calcium ion GO:0005513 9.61 CALM1 CALM2 CALM3
27 keratinization GO:0031424 9.61 KRT10 KRT14 KRT16 KRT17 KRT18 KRT19
28 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.58 CALM1 CALM2 CALM3
29 establishment of protein localization to mitochondrial membrane GO:0090151 9.56 CALM1 CALM3
30 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.54 CALM1 CALM2 CALM3
31 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.5 CALM1 CALM2 CALM3
32 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.43 CALM1 CALM2 CALM3
33 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 9.33 CALM1 CALM2 CALM3
34 cornification GO:0070268 9.28 KRT10 KRT14 KRT16 KRT17 KRT18 KRT19

Molecular functions related to Primary Cutaneous Amyloidosis according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.73 KRT10 KRT16 KRT17 KRT18 KRT7 KRT8
2 scaffold protein binding GO:0097110 9.67 KRT18 KRT5 KRT8
3 disordered domain specific binding GO:0097718 9.65 CALM1 CALM2 CALM3
4 protein serine/threonine kinase activator activity GO:0043539 9.63 CALM1 CALM2 CALM3
5 titin binding GO:0031432 9.58 CALM1 CALM2 CALM3
6 structural constituent of cytoskeleton GO:0005200 9.55 KRT14 KRT16 KRT17 KRT19 KRT5
7 nitric-oxide synthase binding GO:0050998 9.54 CALM1 CALM3
8 adenylate cyclase binding GO:0008179 9.54 CALM1 CALM2 CALM3
9 calcium channel inhibitor activity GO:0019855 9.52 CALM1 CALM2
10 nitric-oxide synthase regulator activity GO:0030235 9.51 CALM1 CALM3
11 protein phosphatase activator activity GO:0072542 9.5 CALM1 CALM2 CALM3
12 type 3 metabotropic glutamate receptor binding GO:0031800 9.43 CALM1 CALM3
13 adenylate cyclase activator activity GO:0010856 9.13 CALM1 CALM2 CALM3
14 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Primary Cutaneous Amyloidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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