PLCA1
MCID: AMY060
MIFTS: 37

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 57 75 13
Primary Localized Cutaneous Amyloidosis 1 29 6
Familial Lichen Amyloidosis 75 73
Amyloidosis Ix 57 75
Plca1 57 75
Pca 57 75
Amyloidosis, Primary Cutaneous, 1; Pca1 57
Primary Localized Cutaneous Amyloidosis 75
Amyloidosis, Familial Cutaneous Lichen 57
Amyloidosis, Primary Cutaneous, 1 57
Amyloidosis, Primary Cutaneous 73
Primary Cutaneous Amyloidosis 75
Lichen Amyloidosis, Familial 57
Amyloidosis Type 9 75
Pca1 57
Plca 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 75 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 Psilocybin and Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and liver, and related phenotypes are scaling skin and pruritus

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.

OMIM : 57 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 58)
# Related Disease Score Top Affiliating Genes
1 lichen amyloidosis 29.6 RET OSMR
2 thyroid carcinoma, familial medullary 29.4 RET OSMR
3 posterior cortical atrophy 12.0
4 amyloidosis, primary localized cutaneous, 3 11.5
5 pigmentary disorder, reticulate, with systemic manifestations, x-linked 11.3
6 amyloidosis, primary localized cutaneous, 2 11.1
7 choanal atresia, posterior 11.1
8 primary cutaneous amyloidosis 11.1
9 prostate cancer 10.4
10 platelet membrane fluidity 10.1
11 pain agnosia 10.1
12 macular amyloidosis 10.1
13 scleroderma, familial progressive 10.0
14 moyamoya disease 1 10.0
15 coffin-lowry syndrome 10.0
16 prostatitis 10.0
17 pain - chronic 10.0
18 amyloidosis 10.0
19 thyroid cancer, nonmedullary, 1 9.9
20 pulmonary sarcoidosis 9.9
21 cholangitis 9.9
22 biliary cirrhosis, primary, 1 9.8
23 frasier syndrome 9.8
24 hand skill, relative 9.8
25 pectus excavatum 9.8
26 small cell cancer of the lung 9.8
27 tetralogy of fallot 9.8
28 lung cancer 9.8
29 lymphoma, hodgkin, classic 9.8
30 dengue virus 9.8
31 dengue disease 9.8
32 liver disease 9.8
33 primary biliary cirrhosis 9.8
34 lymphoma 9.8
35 scoliosis 9.8
36 penicillin allergy 9.8
37 dry eye syndrome 9.8
38 pleurisy 9.8
39 patulous eustachian tube 9.8
40 cheilitis 9.8
41 adenocarcinoma 9.8
42 ischemia 9.8
43 superior mesenteric artery syndrome 9.8
44 posterior cerebral artery infarction 9.8
45 pathologic nystagmus 9.8
46 polymicrogyria 9.8
47 bowenoid papulosis 9.8
48 primary biliary cholangitis 9.8
49 dysphagia 9.8
50 multiple endocrine neoplasia, type iib 9.8 RET OSMR

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 scaling skin 32 HP:0040189
2 pruritus 32 HP:0000989
3 dry skin 32 HP:0000958
4 lichenification 32 HP:0100725
5 amyloidosis 32 HP:0011034
6 cutis laxa 32 HP:0000973
7 lattice corneal dystrophy 32 HP:0001149
8 abnormal cranial nerve morphology 32 HP:0001291

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 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Psilocybin Phase 2
2 Psychotropic Drugs Phase 2
3 Hallucinogens Phase 2
4
Nalbuphine Approved Not Applicable 20594-83-6 5311304 5360630
5
Flurbiprofen Approved, Investigational Not Applicable 5104-49-4 3394
6
Sufentanil Approved, Investigational Not Applicable 56030-54-7 41693
7
Morphine Approved, Investigational Not Applicable 57-27-2 5288826
8 Ramosetron Investigational Not Applicable 132036-88-5
9 Neurotransmitter Agents Not Applicable
10 Analgesics, Non-Narcotic Not Applicable
11 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
12 Adjuvants, Anesthesia Not Applicable
13 Analgesics, Opioid Not Applicable
14 Narcotic Antagonists Not Applicable
15 Serotonin Antagonists Not Applicable
16 Antirheumatic Agents Not Applicable
17 Anti-Inflammatory Agents Not Applicable
18 Anesthetics, General Not Applicable
19 Peripheral Nervous System Agents Not Applicable
20 Anesthetics, Intravenous Not Applicable
21 Gastrointestinal Agents Not Applicable
22 Analgesics Not Applicable
23 Antiemetics Not Applicable
24 Serotonin Agents Not Applicable
25 Cyclooxygenase Inhibitors Not Applicable
26 Flurbiprofen axetil Not Applicable
27 Central Nervous System Depressants Not Applicable
28 Anesthetics Not Applicable
29 Autonomic Agents Not Applicable
30 Narcotics Not Applicable
31
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 29 OSMR

Anatomical Context for Amyloidosis, Primary Localized Cutaneous, 1

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

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

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
Familial lichen amyloidosis. ( 6724776 )
1984
3
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:

75
# 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.2072T> C (p.Ile691Thr) single nucleotide variant Pathogenic rs63750567 GRCh37 Chromosome 5, 38925333: 38925333
2 OSMR NM_003999.2(OSMR): c.2072T> C (p.Ile691Thr) single nucleotide variant Pathogenic rs63750567 GRCh38 Chromosome 5, 38925231: 38925231
3 OSMR NM_003999.2(OSMR): c.1853G> C (p.Gly618Ala) single nucleotide variant Pathogenic rs63750560 GRCh37 Chromosome 5, 38923339: 38923339
4 OSMR NM_003999.2(OSMR): c.1853G> C (p.Gly618Ala) single nucleotide variant Pathogenic rs63750560 GRCh38 Chromosome 5, 38923237: 38923237
5 OSMR NM_003999.2(OSMR): c.2090A> C (p.Lys697Thr) single nucleotide variant Pathogenic rs387906823 GRCh38 Chromosome 5, 38925249: 38925249
6 OSMR NM_003999.2(OSMR): c.2090A> C (p.Lys697Thr) single nucleotide variant Pathogenic rs387906823 GRCh37 Chromosome 5, 38925351: 38925351
7 OSMR NM_003999.2(OSMR): c.2081C> T (p.Pro694Leu) single nucleotide variant Likely pathogenic rs387906822 GRCh38 Chromosome 5, 38925240: 38925240
8 OSMR NM_003999.2(OSMR): c.2081C> T (p.Pro694Leu) single nucleotide variant Likely pathogenic rs387906822 GRCh37 Chromosome 5, 38925342: 38925342
9 OSMR NM_003999.2(OSMR): c.1940A> T (p.Asp647Val) single nucleotide variant Pathogenic rs387906821 GRCh38 Chromosome 5, 38924491: 38924491
10 OSMR NM_003999.2(OSMR): c.1940A> T (p.Asp647Val) single nucleotide variant Pathogenic rs387906821 GRCh37 Chromosome 5, 38924593: 38924593

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 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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