PCA
MCID: PRM001
MIFTS: 50

Primary Cutaneous Amyloidosis (PCA) malady

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

Aliases & Classifications for Primary Cutaneous Amyloidosis

Aliases & Descriptions for Primary Cutaneous Amyloidosis:

Name: Primary Cutaneous Amyloidosis 12 50 25 14
Familial Primary Localized Cutaneous Amyloidosis 12 56
Primary Localized Cutaneous Amyloidosis 50 25
Amyloidosis, Primary Cutaneous 52 69
Amyloidosis Ix 50 25
Plca 50 25
Amyloidosis Familial Cutaneous Lichen 50
Lichen Amyloidosis Familial 50
Familial Lichen Amyloidosis 69
Amyloidosis 9 50
Fplca 56
Pca 12

Characteristics:

Orphanet epidemiological data:

56
familial primary localized cutaneous amyloidosis
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050639
Orphanet 56 ORPHA353220
ICD10 via Orphanet 34 E85.4+ L99.0*

Summaries for Primary Cutaneous Amyloidosis

NIH Rare Diseases : 50 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. last updated: 3/29/2016

MalaCards based summary : Primary Cutaneous Amyloidosis, also known as familial primary localized cutaneous amyloidosis, is related to posterior cortical atrophy and amyloidosis, primary localized cutaneous, 1. An important gene associated with Primary Cutaneous Amyloidosis is OSMR (Oncostatin M Receptor), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Developmental Biology. The drugs Omega 3 Fatty Acid and Ketamine have been mentioned in the context of this disorder. Affiliated tissues include skin and b cells, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and digestive/alimentary

Genetics Home Reference : 25 Primary localized cutaneous amyloidosis (PLCA) is a condition in which clumps of abnormal proteins called amyloids build up in the skin, specifically in the wave-like projections (dermal papillae) between the top two layers of skin (the dermis and the epidermis). The primary feature of PLCA is patches of skin with abnormal texture or color. The appearance of these patches defines three forms of the condition: lichen amyloidosis, macular amyloidosis, and nodular amyloidosis.

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

Wikipedia : 71 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

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

(show top 50) (show all 109)
id Related Disease Score Top Affiliating Genes
1 posterior cortical atrophy 11.7
2 amyloidosis, primary localized cutaneous, 1 11.0
3 choanal atresia, posterior 10.8
4 amyloidosis 10.5
5 laryngotracheal angioma 10.4 IL31RA OSMR
6 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.3 IL31 IL31RA OSMR
7 evc-related ellis-van creveld syndrome 10.3 KRT14 KRT5
8 occipital encephalocele 10.3 KRT18 KRT8
9 pachyonychia congenita 4 10.3 KRT14 KRT5
10 epidermylysis bullosa simplex-mcr 10.3 KRT14 KRT5
11 dissociative amnesia 10.3 KRT19 KRT8
12 woolly hair, autosomal dominant 10.3 KRT18 KRT8
13 superficial basal cell carcinoma 10.3 KRT17 KRT7
14 clear cell cystadenofibroma 10.3 KRT14 KRT5 KRT8
15 dowling-degos disease 1 10.3 KRT10 KRT14 KRT5
16 basaloid squamous cell carcinoma 10.3 KRT10 KRT14 KRT5
17 suppurative lymphadenitis 10.3 KRT5 KRT7
18 embryonal testis carcinoma 10.3 KRT18 KRT5 KRT8
19 anal margin basal cell carcinoma 10.3 KRT10 KRT14 KRT17
20 craniodiaphyseal dysplasia, autosomal dominant 10.3 KRT10 KRT16 KRT17
21 female breast axillary tail cancer 10.3 KRT14 KRT5 KRT7
22 breast granular cell tumor 10.3 KRT14 KRT5 KRT7
23 vulva adenocarcinoma 10.3 KRT14 KRT5 KRT8
24 anus adenocarcinoma 10.3 KRT14 KRT18 KRT8
25 brachydactyly small stature face anomalies 10.3 KRT10 KRT16 KRT17
26 estrogen-receptor positive breast cancer 10.3 KRT14 KRT17 KRT5
27 thymus squamous cell carcinoma 10.3 KRT14 KRT17 KRT8
28 prostate lymphoma 10.3 KRT5 KRT7 KRT8
29 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 10.3 KRT10 KRT14 KRT17
30 eccrine papillary adenoma 10.3 KRT19 KRT7
31 scirrhous adenocarcinoma 10.3 KRT14 KRT5 KRT8
32 middle ear adenocarcinoma 10.2 KRT5 KRT7 KRT8
33 sclerosteosis 1 10.2 KRT16 KRT17
34 envenomization by bothrops lanceolatus 10.2 KRT7 KRT8
35 duodenal obstruction 10.2 KRT5 KRT7 KRT8
36 benign ependymoma 10.2 KRT18 KRT5 KRT8
37 multidrug-resistant tuberculosis 10.2 KRT18 KRT5
38 adenoid squamous cell carcinoma 10.2 KRT5 KRT7 KRT8
39 persian gulf syndrome 10.2 KRT10 KRT5 KRT7
40 pachyonychia congenita 2 10.2 KRT10 KRT16 KRT17
41 nasal cavity adenocarcinoma 10.2 KRT5 KRT7 KRT8
42 malignant spindle cell melanoma 10.2 KRT10 KRT16 KRT17
43 bone chondrosarcoma 10.2 KRT14 KRT18 KRT8
44 osteosarcoma arising in bone paget's disease 10.2 KRT19 KRT7
45 skin amelanotic melanoma 10.2 KRT5 KRT7
46 nodular tenosynovitis 10.2 KRT18 KRT7 KRT8
47 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 10.2 KRT10 KRT17 KRT5 OSMR
48 malignant adult ependymoma 10.2 KRT18 KRT7 KRT8
49 nodular cutaneous amyloidosis 10.2 KRT10 KRT5 KRT7
50 vascular dementia 10.2 KRT10 KRT14 KRT16

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
id 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 KRT5 KRT7 KRT8 KRT18
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 Decreased viability GR00173-A 9.55 CALM2
14 Decreased viability GR00221-A-1 9.55 CALM2 CCL2 MYLK
15 Decreased viability GR00221-A-2 9.55 TTN CALM1 CALM2
16 Decreased viability GR00221-A-3 9.55 CALM1
17 Decreased viability GR00221-A-4 9.55 CALM1 CALM2 CCL2 MYLK TTN
18 Decreased viability GR00301-A 9.55 CALM1 CALM2
19 Decreased viability GR00342-S-1 9.55 TTN
20 Decreased viability GR00342-S-3 9.55 TTN

MGI Mouse Phenotypes related to Primary Cutaneous Amyloidosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.17 KRT5 KRT8 MYLK KRT14 KRT16 KRT17

Drugs & Therapeutics for Primary Cutaneous Amyloidosis

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

(show top 50) (show all 180)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Omega 3 Fatty Acid Nutraceutical Phase 4
2
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
3
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
4
Iron Approved Phase 3,Phase 1,Phase 2 7439-89-6 23925
5
Morphine Approved, Investigational Phase 3 57-27-2 5288826
6
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
7
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
8
Ondansetron Approved Phase 3 99614-02-5 4595
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
10
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
11
Dalteparin Approved Phase 3 9041-08-1
12
Darbepoetin alfa Approved, Investigational Phase 3,Phase 2 11096-26-7, 209810-58-2
13
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
14
Guaifenesin Approved, Vet_approved Phase 3 93-14-1 3516
15
Ginseng Approved, Nutraceutical Phase 3 50647-08-0
16 Analgesics Phase 3
17 Neurotransmitter Agents Phase 3
18 Anesthetics Phase 3
19 Anesthetics, Dissociative Phase 3
20 Anesthetics, General Phase 3
21 Anesthetics, Intravenous Phase 3
22 Peripheral Nervous System Agents Phase 3,Phase 1
23 Excitatory Amino Acid Antagonists Phase 3
24 Excitatory Amino Acids Phase 3
25 Central Nervous System Depressants Phase 3,Phase 1,Phase 2
26 ferric gluconate Phase 3
27 calcium heparin Phase 3
28 pancreatic polypeptide Phase 3
29 Epoetin alfa Phase 3,Phase 2 113427-24-0
30 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
31
Serotonin Phase 3 50-67-9 5202
32 Adjuvants, Anesthesia Phase 3
33 Serotonin Agents Phase 3
34 Serotonin Antagonists Phase 3
35 Narcotics Phase 3
36 Gastrointestinal Agents Phase 3,Phase 1
37 Hematinics Phase 3,Phase 2
38 Heparin, Low-Molecular-Weight Phase 3
39 Dermatologic Agents Phase 3,Phase 1,Phase 2
40 Analgesics, Opioid Phase 3
41 Tranquilizing Agents Phase 3
42 Hormones Phase 3,Phase 1,Phase 2
43 Echinocandins Phase 3,Phase 2
44 Anti-Anxiety Agents Phase 3
45 Anti-Bacterial Agents Phase 3,Phase 1,Phase 2
46 Anti-Infective Agents Phase 3,Phase 2,Phase 1
47 Ferric Compounds Phase 3
48 Fibrinolytic Agents Phase 3
49 Anticoagulants Phase 3,Phase 1,Phase 2
50 Antiemetics Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 55)
id Name Status NCT ID Phase
1 Trial to Study the Effects of Supplementary Omega-3 on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
2 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3
3 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
4 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
5 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3
6 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
7 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3
8 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
9 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3
10 Darbepoetin Alfa Compared With Epoetin Alfa in Treating Anemia in Patients Receiving Chemotherapy for Cancer Completed NCT00070382 Phase 3
11 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3
12 Dalteparin to Prevent Complications in Cancer Patients Receiving Chemotherapy Through a Catheter Completed NCT00006083 Phase 3
13 Darbepoetin Alfa With or Without Iron in Treating Anemia Caused By Chemotherapy in Patients With Cancer Completed NCT00661999 Phase 3
14 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3
15 Donor Natural Killer Cells After Donor Stem Cell Transplant in Treating Patients With Advanced Cancer Completed NCT00823524 Phase 1, Phase 2
16 Epoetin Alfa in Treating Patients With Anemia Who Are Undergoing Chemotherapy for Cancer Completed NCT00255749 Phase 2
17 Caspofungin Acetate in Treating Aspergillosis in Patients With Hematologic Cancer or in Patients Who Have Undergone a Stem Cell Transplant Completed NCT00110045 Phase 2
18 Epoetin Alfa or Darbepoetin Alfa in Treating Patients With Anemia Caused by Chemotherapy Completed NCT00416624 Phase 2
19 Non-Ablative Allo HSCT For Hematologic Malignancies or SAA Completed NCT00006379 Phase 2
20 Busulfan, Fludarabine, and Total-Body Irradiation in Treating Patients Who Are Undergoing a Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00245037 Phase 1, Phase 2
21 Beclomethasone in Treating Patients With Graft-Versus-Host Disease of the Esophagus, Stomach, Small Intestine, or Colon Completed NCT00010283 Phase 1, Phase 2
22 Bone Marrow Transplantation in Treating Patients With Hematologic Cancer Completed NCT00005804 Phase 2
23 Fludarabine Phosphate, Low-Dose Total-Body Irradiation, and Donor Stem Cell Transplant Followed by Cyclosporine, Mycophenolate Mofetil, Donor Lymphocyte Infusion in Treating Patients With Hematopoietic Cancer Active, not recruiting NCT00006251 Phase 1, Phase 2
24 Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory Disease Terminated NCT00069329 Phase 1, Phase 2
25 Antimicrobial Solution or Saline Solution in Maintaining Catheter Patency and Preventing Catheter-Related Blood Infections in Patients With Malignancies Withdrawn NCT01101412 Phase 1, Phase 2
26 Imatinib Mesylate in Treating Patients With Advanced Cancer and Liver Dysfunction Completed NCT00025415 Phase 1
27 Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy Completed NCT00890747 Phase 1
28 EMD 121974 in Treating Patients With Locally Advanced or Metastatic Cancer Completed NCT00004258 Phase 1
29 Pyroxamide in Treating Patients With Advanced Cancer Completed NCT00042900 Phase 1
30 SAD/MAD Study to Assess Safety, Tolerability, PK & PD of MEDI1814 in Subjects With Mild-Moderate Alzheimer's Disease. Completed NCT02036645 Phase 1
31 Bone Marrow and Peripheral Stem Cell Transplantation in Treating Patients With Hematologic Cancer Completed NCT00004232 Phase 1
32 Stem Cell Transplantation in Treating Patients With Hematologic Cancer Completed NCT00004904 Phase 1
33 Tissue, Blood, and Body Fluid Sample Collection From Patients With Hematologic Cancer Recruiting NCT01137643 Phase 1
34 506U78 in Treating Patients With Hematologic Cancer and Kidney or Liver Impairment Terminated NCT00004239 Phase 1
35 12-O-Tetradecanoylphorbol-13-acetate in Treating Patients With Hematologic Cancer or Bone Marrow Disorder Terminated NCT00004058 Phase 1
36 Magnetic Acupressure in Reducing Pain in Cancer Patients Undergoing Bone Marrow Aspiration and Biopsy Unknown status NCT00670917
37 Natural History Study of Fungal Infections of the Blood in Patients With Cancer or in Patients Who Have Undergone a Stem Cell Transplant Unknown status NCT00445952
38 Fludarabine and Total-Body Irradiation Followed By Donor Stem Cell Transplant and Cyclosporine and Mycophenolate Mofetil in Treating HIV-Positive Patients With or Without Cancer Completed NCT00112593
39 Infection Prophylaxis and Management in Treating Cytomegalovirus (CMV) Infection in Patients With Hematologic Malignancies Previously Treated With Donor Stem Cell Transplant Completed NCT01199562
40 Methemoglobinemia in Young Patients With Hematologic Cancer or Aplastic Anemia Treated With Dapsone Completed NCT00993694
41 Music in Reducing Anxiety and Pain in Adult Patients Undergoing Bone Marrow Biopsy for Hematologic Cancers or Other Diseases Completed NCT00376922
42 Efficacy of 308-nm Excimer Laser for Primary Localized Cutaneous Amyloidosis Treatment in Asians Recruiting NCT03068156
43 3'-Deoxy-3'-[18F] Fluorothymidine PET Imaging in Patients With Cancer Recruiting NCT00935090
44 Registry of Older Patients With Cancer Recruiting NCT01137825
45 Massage Therapy Given by Caregiver in Treating Quality of Life of Young Patients Undergoing Treatment for Cancer Active, not recruiting NCT01053494
46 High-Dose Chemotherapy With or Without Total-Body Irradiation Followed by Autologous Stem Cell Transplant in Treating Patients With Hematologic Cancer or Solid Tumors Active, not recruiting NCT00536601
47 Fludarabine Phosphate and Total-Body Radiation Followed by Donor Peripheral Blood Stem Cell Transplant and Immunosuppression in Treating Patients With Hematologic Malignancies Active, not recruiting NCT00014235
48 Pemetrexed Disodium in the Cerebrospinal Fluid of Patients With Leptomeningeal Metastases Active, not recruiting NCT00424242 Early Phase 1
49 Efficacy of Methylene Blue Mediated Photodynamic Therapy for Primary Localized Cutaneous Amyloidosis Treatment in Asians Not yet recruiting NCT03068208
50 Influenza Vaccine in Preventing Flu in Patients Who Have Undergone Stem Cell Transplant and in Healthy Volunteers Terminated NCT00952185

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:

39
Skin, B Cells

Publications for Primary Cutaneous Amyloidosis

Articles related to Primary Cutaneous Amyloidosis:

(show top 50) (show all 59)
id Title Authors Year
1
Reflectance confocal microscopy for the characterization of primary cutaneous amyloidosis: a pilot study. ( 28083882 )
2017
2
Treatment of primary cutaneous amyloidosis with laser: a review of the literature. ( 26984345 )
2016
3
Efficacy of different modes of fractional CO2 laser in the treatment of primary cutaneous amyloidosis: A randomized clinical trial. ( 25946210 )
2015
4
Health-related quality of life in patients with primary cutaneous amyloidosis. ( 25799390 )
2015
5
Amyloidosis cutis dyschromia: a rare form of primary cutaneous amyloidosis. ( 24746296 )
2014
6
Nodular localized primary cutaneous amyloidosis: a bullous variant. ( 24635076 )
2014
7
Unilateral primary cutaneous amyloidosis of the eyelid masquerading as a chalazion. ( 25284111 )
2014
8
MCP-1 as an effector of IL-31 signaling in familial primary cutaneous amyloidosis. ( 23303452 )
2013
9
Thalidomide improves clinical symptoms of primary cutaneous amyloidosis: report of familiar and sporadic cases. ( 23742287 )
2013
10
Primary cutaneous amyloidosis of the glans penis. Two case reports and a review of the literature. ( 24125073 )
2013
11
Reactive eccrine syringofibroadenomatosis secondary to primary cutaneous amyloidosis: a novel association. ( 24325801 )
2013
12
Primary cutaneous amyloidosis: a clinico-pathological study with emphasis on polarized microscopy. ( 22771637 )
2012
13
Primary cutaneous amyloidosis of the external ear: a clinicopathological and immunohistochemical study of 17 cases. ( 22077601 )
2012
14
Characteristic dermoscopic features of primary cutaneous amyloidosis: a study of 35 cases. ( 22632408 )
2012
15
Poikiloderma-like primary cutaneous amyloidosis confined to the calves in a Chinese man. ( 22776500 )
2012
16
Nodular localized primary cutaneous amyloidosis and primary marginal zone B-cell lymphoma on the nose: treatment with microscopically controlled surgery. ( 21413960 )
2011
17
Unusual primary cutaneous amyloidosis with an incontinentia pigmenti-like pattern. ( 21413964 )
2011
18
Dramatic improvement of primary cutaneous amyloidosis with thalidomide. ( 21382777 )
2011
19
Role of oligomers in the amyloidogenesis of primary cutaneous amyloidosis. ( 21669474 )
2011
20
Association of primary cutaneous amyloidosis with atopic dermatitis: a nationwide population-based study in Taiwan. ( 21070198 )
2011
21
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. ( 19690585 )
2010
22
A rare type of primary cutaneous amyloidosis: amyloidosis cutis dyschromica. ( 21091677 )
2010
23
Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis. ( 19466957 )
2009
24
Papules and plaques on the nose. Nodular localized primary cutaneous amyloidosis. ( 17438189 )
2007
25
Primary cutaneous amyloidosis of the auricular concha: case report and review of published work. ( 16556282 )
2006
26
Genome-wide scan identifies a susceptibility locus for familial primary cutaneous amyloidosis on chromosome 5p13.1-q11.2. ( 17107390 )
2006
27
A comparative study of two Congo red stains for the detection of primary cutaneous amyloidosis. ( 16844537 )
2006
28
Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23. ( 15656797 )
2005
29
Nodular localized primary cutaneous amyloidosis. ( 12174132 )
2002
30
Primary cutaneous amyloidosis. ( 11991040 )
2002
31
Clinical and histopathological characteristics of primary cutaneous amyloidosis in 794 Chinese patients. ( 11355326 )
2001
32
Nodular localized primary cutaneous amyloidosis: a long-term follow-up study. ( 11453916 )
2001
33
Primary cutaneous amyloidosis involving the external ears along with the classical sites. ( 17664705 )
2001
34
Apoptosis in primary cutaneous amyloidosis. ( 10733268 )
1999
35
Familial primary cutaneous amyloidosis in a South African family. ( 10606942 )
1999
36
Cytokeratins in primary cutaneous amyloidosis. ( 9611375 )
1998
37
Primary cutaneous amyloidosis. ( 20944287 )
1997
38
Detection of Epstein-Barr virus in primary cutaneous amyloidosis. ( 9217811 )
1997
39
Epstein-Barr virus-related primary cutaneous amyloidosis. Successful treatment with acyclovir and interferon-alpha. ( 8745909 )
1996
40
Genetic heterogeneity of familial primary cutaneous amyloidosis: lack of evidence for linkage with the chromosome 10 pericentromeric region in Chinese families. ( 8752835 )
1996
41
Diffuse primary cutaneous amyloidosis. ( 1476924 )
1992
42
Unusual manifestations of primary cutaneous amyloidosis in association with Raynaud's phenomenon and livedo reticularis. ( 1516235 )
1992
43
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
44
Primary cutaneous amyloidosis of the auricular concha. ( 3279082 )
1988
45
Nodular localized primary cutaneous amyloidosis. ( 3504756 )
1987
46
Primary cutaneous amyloidosis. ( 3553043 )
1987
47
A monoclonal anti-keratin antibody reactive with amyloid deposit of primary cutaneous amyloidosis. ( 2449480 )
1987
48
Nodular primary cutaneous amyloidosis. Isolation and characterization of amyloid fibrils. ( 3789778 )
1986
49
Primary cutaneous amyloidosis: identically distributed lesions in identical twins. ( 3725702 )
1986
50
Familial primary cutaneous amyloidosis. ( 3970841 )
1985

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 GeneCards Suite gene sharing:

(show all 45)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 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 TTN
4
Show member pathways
12.39 CALM1 CALM2 CALM3 MYLK
5
Show member pathways
12.37 CALM1 CALM2 CALM3 MYLK
6
Show member pathways
12.29 CALM1 CALM2 CALM3 MYLK
7 12.28 KRT10 KRT17 KRT18 KRT19 KRT5 KRT7
8
Show member pathways
12.19 CALM1 CALM2 CALM3 MYLK
9
Show member pathways
12.12 CALM1 CALM2 CALM3 MYLK
10
Show member pathways
12.06 KRT10 KRT14 KRT16 KRT17 KRT18 KRT19
11 12.04 CALM1 CALM2 CALM3 CCL2
12 12.02 CALM1 CALM2 CALM3 MYLK
13 11.88 CALM1 CALM2 CALM3
14 11.88 CALM1 CALM2 CALM3
15
Show member pathways
11.85 CALM1 CALM2 CALM3
16
Show member pathways
11.82 CALM1 CALM2 CALM3
17
Show member pathways
11.81 CALM1 CALM2 CALM3
18
Show member pathways
11.78 CALM1 CALM2 CALM3
19 11.76 KRT14 KRT17 KRT5
20
Show member pathways
11.74 CALM1 CALM2 CALM3
21
Show member pathways
11.73 CALM1 CALM2 CALM3
22
Show member pathways
11.72 CALM1 CALM2 CALM3
23 11.71 CALM1 CALM2 CALM3
24
Show member pathways
11.7 CALM1 CALM2 CALM3
25 11.69 CALM1 CALM2 CALM3
26
Show member pathways
11.64 CALM1 CALM2 CALM3
27 11.62 CALM1 CALM2 CALM3
28 11.6 CALM1 CALM2 CALM3
29
Show member pathways
11.58 CALM1 CALM2 CALM3
30 11.5 CALM1 CALM2 CALM3 MYLK
31 11.49 CALM1 CALM2 CALM3
32 11.3 CALM1 CALM2 CALM3
33 11.28 CALM1 CALM2 CALM3
34 11.26 CALM1 CALM2 MYLK
35
Show member pathways
11.26 KRT14 KRT16 KRT17 KRT18 KRT19 KRT5
36 11.23 CALM1 CALM2 CALM3
37 11.19 CALM1 CALM2 CALM3
38 11.18 CALM1 CALM2 CALM3 MYLK
39 11.15 CALM1 CALM2 CALM3
40 11.13 CALM1 CALM2 CALM3
41 11.12 CALM1 CALM2 CALM3
42 10.98 CALM1 CALM2 CALM3
43 10.89 CALM1 CALM2 CALM3
44 10.86 CALM1 CALM2 CALM3
45 10.66 CALM1 CALM2 CALM3

GO Terms for Primary Cutaneous Amyloidosis

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

id Name GO ID Score Top Affiliating Genes
1 keratin filament GO:0045095 9.65 KRT14 KRT18 KRT5 KRT7 KRT8
2 sarcomere GO:0030017 9.61 CALM1 CALM2 CALM3
3 spindle microtubule GO:0005876 9.58 CALM1 CALM2 CALM3
4 calcium channel complex GO:0034704 9.5 CALM1 CALM2 CALM3
5 dystrophin-associated glycoprotein complex GO:0016010 9.46 KRT19 KRT8
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 10.21 CALM1 CALM2 CALM3 KRT10 KRT14 KRT16
9 extracellular exosome GO:0070062 10 CALM1 CALM2 CALM3 KRT10 KRT14 KRT16

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

(show all 36)
id Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.92 CALM1 CALM2 CALM3 TTN
2 epidermis development GO:0008544 9.91 KRT14 KRT16 KRT17 KRT5
3 inositol phosphate metabolic process GO:0043647 9.83 CALM1 CALM2 CALM3
4 substantia nigra development GO:0021762 9.82 CALM1 CALM2 CALM3
5 protein methylation GO:0006479 9.82 CALM1 CALM2 CALM3
6 positive regulation of protein serine/threonine kinase activity GO:0071902 9.81 CALM1 CALM2 CALM3
7 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.81 CALM1 CALM2 CALM3
8 sarcomere organization GO:0045214 9.8 KRT19 KRT8 TTN
9 regulation of heart rate GO:0002027 9.79 CALM1 CALM2 CALM3
10 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.79 CALM1 CALM2 CALM3
11 response to calcium ion GO:0051592 9.78 CALM1 CALM2 CALM3 TTN
12 regulation of rhodopsin mediated signaling pathway GO:0022400 9.77 CALM1 CALM2 CALM3
13 regulation of nitric-oxide synthase activity GO:0050999 9.77 CALM1 CALM2 CALM3
14 positive regulation of protein autophosphorylation GO:0031954 9.76 CALM1 CALM2 CALM3
15 regulation of cytokinesis GO:0032465 9.75 CALM1 CALM2 CALM3
16 regulation of cardiac muscle contraction GO:0055117 9.74 CALM1 CALM2 CALM3
17 positive regulation of protein dephosphorylation GO:0035307 9.73 CALM1 CALM2 CALM3
18 glycogen catabolic process GO:0005980 9.72 CALM1 CALM2 CALM3
19 muscle contraction GO:0006936 9.72 CALM1 CALM2 CALM3 MYLK TTN
20 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.71 CALM1 CALM2 CALM3
21 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.7 CALM1 CALM2 CALM3
22 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.69 CALM1 CALM2 CALM3
23 hair cycle GO:0042633 9.67 KRT14 KRT16
24 positive regulation of wound healing GO:0090303 9.67 CCL2 MYLK
25 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.67 CALM1 CALM2 CALM3
26 hepatocyte apoptotic process GO:0097284 9.66 KRT18 KRT8
27 hemidesmosome assembly GO:0031581 9.66 KRT14 KRT5
28 cell differentiation involved in embryonic placenta development GO:0060706 9.65 KRT19 KRT8
29 detection of calcium ion GO:0005513 9.63 CALM1 CALM2 CALM3
30 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.61 CALM1 CALM2 CALM3
31 keratinization GO:0031424 9.61 KRT10 KRT14 KRT16 KRT17 KRT18 KRT19
32 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.58 CALM1 CALM2 CALM3
33 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.54 CALM1 CALM2 CALM3
34 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.43 CALM1 CALM2 CALM3
35 positive regulation of cyclic nucleotide metabolic process GO:0030801 9.33 CALM1 CALM2 CALM3
36 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 12)
id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.91 CALM1 CALM2 CALM3 IL31RA TTN
2 structural molecule activity GO:0005198 9.85 KRT16 KRT17 KRT18 KRT7 KRT8
3 scaffold protein binding GO:0097110 9.67 KRT18 KRT5 KRT8
4 ligand-gated ion channel activity GO:0015276 9.65 CALM1 CALM2 CALM3
5 protein serine/threonine kinase activator activity GO:0043539 9.61 CALM1 CALM2 CALM3
6 phospholipase binding GO:0043274 9.58 CALM1 CALM2 CALM3
7 structural constituent of cytoskeleton GO:0005200 9.55 KRT14 KRT16 KRT17 KRT19 KRT5
8 titin binding GO:0031432 9.54 CALM1 CALM2 CALM3
9 thioesterase binding GO:0031996 9.5 CALM1 CALM2 CALM3
10 inositol-1,4,5-trisphosphate 3-kinase activity GO:0008440 9.43 CALM1 CALM2 CALM3
11 protein phosphatase activator activity GO:0072542 9.13 CALM1 CALM2 CALM3
12 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Primary Cutaneous Amyloidosis

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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38 LifeMap
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42 MeSH
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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