PLCA1
MCID: AMY060
MIFTS: 40

Amyloidosis, Primary Localized Cutaneous, 1 (PLCA1)

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

Aliases & Classifications for Amyloidosis, Primary Localized Cutaneous, 1

MalaCards integrated aliases for Amyloidosis, Primary Localized Cutaneous, 1:

Name: Amyloidosis, Primary Localized Cutaneous, 1 58 76 13
Primary Localized Cutaneous Amyloidosis 1 30 6
Familial Lichen Amyloidosis 76 74
Amyloidosis Ix 58 76
Plca1 58 76
Pca 58 76
Amyloidosis, Primary Cutaneous, 1; Pca1 58
Primary Localized Cutaneous Amyloidosis 76
Amyloidosis, Familial Cutaneous Lichen 58
Amyloidosis, Primary Cutaneous, 1 58
Amyloidosis, Primary Cutaneous 74
Primary Cutaneous Amyloidosis 76
Lichen Amyloidosis, Familial 58
Amyloidosis Type 9 76
Pca1 58
Plca 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset may occur in childhood
symptoms typically start with severe pruritus on the lower legs


HPO:

33
amyloidosis, primary localized cutaneous, 1:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Amyloidosis, Primary Localized Cutaneous, 1

UniProtKB/Swiss-Prot : 76 Amyloidosis, primary localized cutaneous, 1: A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.

MalaCards based summary : Amyloidosis, Primary Localized Cutaneous, 1, also known as primary localized cutaneous amyloidosis 1, is related to lichen amyloidosis and thyroid carcinoma, familial medullary. An important gene associated with Amyloidosis, Primary Localized Cutaneous, 1 is OSMR (Oncostatin M Receptor). The drugs Hallucinogens and Psilocybin have been mentioned in the context of this disorder. Affiliated tissues include skin, prostate and thyroid, and related phenotypes are scaling skin and pruritus

Genetics Home Reference : 26 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.

OMIM : 58 Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by Tanaka et al., 2009). (105250)

Related Diseases for Amyloidosis, Primary Localized Cutaneous, 1

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 Amyloidosis, Primary Localized Cutaneous, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 lichen amyloidosis 29.6 OSMR RET
2 thyroid carcinoma, familial medullary 29.3 OSMR RET
3 posterior cortical atrophy 12.0
4 amyloidosis, primary localized cutaneous, 3 11.6
5 pigmentary disorder, reticulate, with systemic manifestations, x-linked 11.3
6 choanal atresia, posterior 11.2
7 primary cutaneous amyloidosis 11.1
8 prostate cancer 10.5
9 prostate cancer, hereditary, 8 10.5
10 prostate cancer, hereditary, 6 10.5
11 pain agnosia 10.3
12 tetralogy of fallot 10.2
13 platelet membrane fluidity 10.2
14 legionnaires' disease 10.1
15 macular amyloidosis 10.1
16 moyamoya disease 1 10.1
17 adenocarcinoma 10.1
18 amyloidosis 10.1
19 scleroderma, familial progressive 10.0
20 thyroid cancer 10.0
21 retinitis pigmentosa 10.0
22 coffin-lowry syndrome 10.0
23 scoliosis 10.0
24 mucositis 10.0
25 patulous eustachian tube 10.0
26 prostatitis 10.0
27 ischemia 10.0
28 charles bonnet syndrome 10.0
29 pain - chronic 10.0
30 sarcoidosis 1 9.9
31 thyroid cancer, nonmedullary, 1 9.9
32 pulmonary sarcoidosis 9.9
33 systemic scleroderma 9.9
34 cholangitis 9.9
35 alzheimer disease 9.8
36 biliary cirrhosis, primary, 1 9.8
37 multiple sclerosis 9.8
38 frasier syndrome 9.8
39 hand skill, relative 9.8
40 pectus excavatum 9.8
41 scoliosis, isolated 1 9.8
42 small cell cancer of the lung 9.8
43 lung cancer 9.8
44 lymphoma, hodgkin, classic 9.8
45 nance-horan syndrome 9.8
46 retinal dysplasia, primary 9.8
47 prostatic hyperplasia, benign 9.8
48 asthma 9.8
49 anxiety 9.8
50 intraocular pressure quantitative trait locus 9.8

Graphical network of the top 20 diseases related to Amyloidosis, Primary Localized Cutaneous, 1:



Diseases related to Amyloidosis, Primary Localized Cutaneous, 1

Symptoms & Phenotypes for Amyloidosis, Primary Localized Cutaneous, 1

Human phenotypes related to Amyloidosis, Primary Localized Cutaneous, 1:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 scaling skin 33 HP:0040189
2 pruritus 33 HP:0000989
3 dry skin 33 HP:0000958
4 lichenification 33 HP:0100725
5 amyloidosis 33 HP:0011034
6 cutis laxa 33 HP:0000973
7 lattice corneal dystrophy 33 HP:0001149
8 abnormal cranial nerve morphology 33 HP:0001291

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
pruritus
dry skin
scaly skin
focal skin lichenification

Skin Nails Hair Skin Histology:
focal deposition of amyloid in dermal papillae
pigmentary incontinence
amorphous eosinophilic material in the papillary dermis
accentuated skin creases

Clinical features from OMIM:

105250

Drugs & Therapeutics for Amyloidosis, Primary Localized Cutaneous, 1

Drugs for Amyloidosis, Primary Localized Cutaneous, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hallucinogens Phase 2
2 Psilocybin Phase 2
3 Psychotropic Drugs Phase 2
4
Nalbuphine Approved Not Applicable 20594-83-6 5311304 5360630
5
Sufentanil Approved, Investigational Not Applicable 56030-54-7 41693
6
Flurbiprofen Approved, Investigational Not Applicable 5104-49-4 3394
7
Morphine Approved, Investigational Not Applicable 57-27-2 5288826
8 Ramosetron Investigational Not Applicable 132036-88-5
9 Flurbiprofen axetil Investigational Not Applicable 91503-79-6
10 Narcotics Not Applicable
11 Analgesics Not Applicable
12 Antirheumatic Agents Not Applicable
13 Gastrointestinal Agents Not Applicable
14 Cyclooxygenase Inhibitors Not Applicable
15 Serotonin Antagonists Not Applicable
16 Peripheral Nervous System Agents Not Applicable
17 Analgesics, Non-Narcotic Not Applicable
18 Neurotransmitter Agents Not Applicable
19 Analgesics, Opioid Not Applicable
20 Anti-Inflammatory Agents Not Applicable
21 Central Nervous System Depressants Not Applicable
22 Anesthetics, General Not Applicable
23 Antiemetics Not Applicable
24 Adjuvants, Anesthesia Not Applicable
25 Anesthetics, Intravenous Not Applicable
26 Anesthetics Not Applicable
27 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
28 Autonomic Agents Not Applicable
29 Serotonin Agents Not Applicable
30
Serotonin Investigational, Nutraceutical Not Applicable 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pharmacokinetic Study for PCA Derivate Formulations Completed NCT00729729 Phase 4 PCA;PCA;PCA
2 Psilocybin-Assisted Psychotherapy for Anxiety in People With Stage IV Melanoma Withdrawn NCT00979693 Phase 2 psilocybin;psilocybin
3 Analgesia Effects of Nalbuphine vs Sulfentanil Unknown status NCT02604797 Not Applicable Nalbuphine;Sufentanil;flurbiprofen axetil;ramosetron
4 Blood Flow Measurement Using Quantitative Magnetic Resonance Angiography and Duplex Sonography Recruiting NCT03591523
5 Safety and Efficacy of Patient Controlled Analgesia in the Emergency Department Completed NCT00910208 Not Applicable morphine

Search NIH Clinical Center for Amyloidosis, Primary Localized Cutaneous, 1

Genetic Tests for Amyloidosis, Primary Localized Cutaneous, 1

Genetic tests related to Amyloidosis, Primary Localized Cutaneous, 1:

# Genetic test Affiliating Genes
1 Primary Localized Cutaneous Amyloidosis 1 30 OSMR

Anatomical Context for Amyloidosis, Primary Localized Cutaneous, 1

MalaCards organs/tissues related to Amyloidosis, Primary Localized Cutaneous, 1:

42
Skin, Prostate, Thyroid, Liver, Eye, B Cells, Temporal Lobe

Publications for Amyloidosis, Primary Localized Cutaneous, 1

Articles related to Amyloidosis, Primary Localized Cutaneous, 1:

# Title Authors Year
1
Itch in familial lichen amyloidosis: effective treatment with amitriptyline in two cases. ( 24502303 )
2014
2
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. ( 19690585 )
2010
3
Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. ( 18179886 )
2008
4
Familial lichen amyloidosis. ( 6724776 )
1984
5
Familial lichen amyloidosis. Report of 19 cases in 4 generations of a Chinese family in Malaysia. ( 5057380 )
1972

Variations for Amyloidosis, Primary Localized Cutaneous, 1

UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 1:

76
# Symbol AA change Variation ID SNP ID
1 OSMR p.Gly618Ala VAR_043513 rs63750560
2 OSMR p.Ile691Thr VAR_043514 rs63750567
3 OSMR p.Asp647Val VAR_065810 rs387906821
4 OSMR p.Pro694Leu VAR_065811 rs387906822
5 OSMR p.Lys697Thr VAR_065812 rs387906823

ClinVar genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OSMR NM_003999.2(OSMR): c.2090A> C (p.Lys697Thr) single nucleotide variant Pathogenic rs387906823 GRCh38 Chromosome 5, 38925249: 38925249
2 OSMR NM_003999.2(OSMR): c.2090A> C (p.Lys697Thr) single nucleotide variant Pathogenic rs387906823 GRCh37 Chromosome 5, 38925351: 38925351
3 OSMR NM_003999.2(OSMR): c.2081C> T (p.Pro694Leu) single nucleotide variant Likely pathogenic rs387906822 GRCh38 Chromosome 5, 38925240: 38925240
4 OSMR NM_003999.2(OSMR): c.2081C> T (p.Pro694Leu) single nucleotide variant Likely pathogenic rs387906822 GRCh37 Chromosome 5, 38925342: 38925342
5 OSMR NM_003999.2(OSMR): c.1940A> T (p.Asp647Val) single nucleotide variant Pathogenic rs387906821 GRCh38 Chromosome 5, 38924491: 38924491
6 OSMR NM_003999.2(OSMR): c.1940A> T (p.Asp647Val) single nucleotide variant Pathogenic rs387906821 GRCh37 Chromosome 5, 38924593: 38924593
7 OSMR NM_003999.2(OSMR): c.1853G> C (p.Gly618Ala) single nucleotide variant Pathogenic rs63750560 GRCh38 Chromosome 5, 38923237: 38923237
8 OSMR NM_003999.2(OSMR): c.1853G> C (p.Gly618Ala) single nucleotide variant Pathogenic rs63750560 GRCh37 Chromosome 5, 38923339: 38923339
9 OSMR NM_003999.2(OSMR): c.2072T> C (p.Ile691Thr) single nucleotide variant Pathogenic rs63750567 GRCh38 Chromosome 5, 38925231: 38925231
10 OSMR NM_003999.2(OSMR): c.2072T> C (p.Ile691Thr) single nucleotide variant Pathogenic rs63750567 GRCh37 Chromosome 5, 38925333: 38925333

Expression for Amyloidosis, Primary Localized Cutaneous, 1

Search GEO for disease gene expression data for Amyloidosis, Primary Localized Cutaneous, 1.

Pathways for Amyloidosis, Primary Localized Cutaneous, 1

GO Terms for Amyloidosis, Primary Localized Cutaneous, 1

Cellular components related to Amyloidosis, Primary Localized Cutaneous, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.62 OSMR RET

Sources for Amyloidosis, Primary Localized Cutaneous, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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