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PLCA1
MCID: AMY060
MIFTS: 37
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Amyloidosis, Primary Localized Cutaneous, 1 (PLCA1)
Categories:
Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Amyloidosis, Primary Localized Cutaneous, 1:
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:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Skin diseases |
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UniProtKB/Swiss-Prot
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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) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:105250Human phenotypes related to Amyloidosis, Primary Localized Cutaneous, 1:32 (show all 8)
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Drugs for Amyloidosis, Primary Localized Cutaneous, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 31)
Interventional clinical trials:
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MalaCards organs/tissues related to Amyloidosis, Primary Localized Cutaneous, 1:41
Skin,
Lung,
Liver,
Eye,
Prostate,
Thyroid,
B Cells
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Articles related to Amyloidosis, Primary Localized Cutaneous, 1:
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Genes related to Amyloidosis, Primary Localized Cutaneous, 1 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 1:75
ClinVar genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 1:6
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Search
GEO
for disease gene expression data for Amyloidosis, Primary Localized Cutaneous, 1.
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Cellular components related to Amyloidosis, Primary Localized Cutaneous, 1 according to GeneCards Suite gene sharing:
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