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PLCA1
MCID: AMY060
MIFTS: 32

Amyloidosis, Primary Localized Cutaneous, 1 (PLCA1)

Categories: Genetic diseases, Rare diseases, Skin diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Amyloidosis, Primary Localized Cutaneous, 1

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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:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)


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Summaries for Amyloidosis, Primary Localized Cutaneous, 1

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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 posterior cortical atrophy and pigmentary disorder, reticulate, with systemic manifestations, x-linked. An important gene associated with Amyloidosis, Primary Localized Cutaneous, 1 is OSMR (Oncostatin M Receptor). The drugs Flurbiprofen and Nalbuphine have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are cutis laxa and pruritus

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)

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Related Diseases for Amyloidosis, Primary Localized Cutaneous, 1

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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 all 22)
# Related Disease Score Top Affiliating Genes
1 posterior cortical atrophy 11.8
2 pigmentary disorder, reticulate, with systemic manifestations, x-linked 11.1
3 choanal atresia, posterior 10.9
4 primary cutaneous amyloidosis 10.9
5 prostatitis 10.4
6 prostate cancer 10.3
7 cerebritis 10.0
8 moyamoya disease 1 9.9
9 biliary cirrhosis, primary, 1 9.8
10 small cell cancer of the lung 9.8
11 lung cancer 9.8
12 primary biliary cirrhosis 9.8
13 scoliosis 9.8
14 penicillin allergy 9.8
15 pleurisy 9.8
16 superior mesenteric artery syndrome 9.8
17 posterior cerebral artery infarction 9.8
18 neuronitis 9.8
19 primary biliary cholangitis 9.8
20 depression 9.8
21 aneurysm 9.8
22 chronic pain 9.8

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



Diseases related to Amyloidosis, Primary Localized Cutaneous, 1
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Symptoms & Phenotypes for Amyloidosis, Primary Localized Cutaneous, 1

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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
# Description HPO Frequency HPO Source Accession
1 cutis laxa 32 HP:0000973
2 pruritus 32 HP:0000989
3 lattice corneal dystrophy 32 HP:0001149
4 abnormality of the cranial nerves 32 HP:0001291
5 amyloidosis 32 HP:0011034
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Drugs & Therapeutics for Amyloidosis, Primary Localized Cutaneous, 1

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

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

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Genetic Tests for Amyloidosis, Primary Localized Cutaneous, 1

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

# Genetic test Affiliating Genes
1 Primary Localized Cutaneous Amyloidosis 1 29 OSMR
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Anatomical Context for Amyloidosis, Primary Localized Cutaneous, 1

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

41
Skin
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Publications for Amyloidosis, Primary Localized Cutaneous, 1

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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
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Variations for Amyloidosis, Primary Localized Cutaneous, 1

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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.1940A> T (p.Asp647Val) single nucleotide variant Pathogenic rs387906821 GRCh37 Chromosome 5, 38924593: 38924593
6 OSMR NM_003999.2(OSMR): c.1940A> T (p.Asp647Val) single nucleotide variant Pathogenic rs387906821 GRCh38 Chromosome 5, 38924491: 38924491
7 OSMR NM_003999.2(OSMR): c.2081C> T (p.Pro694Leu) single nucleotide variant Likely pathogenic rs387906822 GRCh37 Chromosome 5, 38925342: 38925342
8 OSMR NM_003999.2(OSMR): c.2081C> T (p.Pro694Leu) single nucleotide variant Likely pathogenic rs387906822 GRCh38 Chromosome 5, 38925240: 38925240
9 OSMR NM_003999.2(OSMR): c.2090A> C (p.Lys697Thr) single nucleotide variant Pathogenic rs387906823 GRCh37 Chromosome 5, 38925351: 38925351
10 OSMR NM_003999.2(OSMR): c.2090A> C (p.Lys697Thr) single nucleotide variant Pathogenic rs387906823 GRCh38 Chromosome 5, 38925249: 38925249
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Expression for Amyloidosis, Primary Localized Cutaneous, 1

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

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GO Terms for Amyloidosis, Primary Localized Cutaneous, 1

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Sources for Amyloidosis, Primary Localized Cutaneous, 1

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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