Amyloidosis, Primary Localized Cutaneous, 2; Plca2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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).For a general description and a discussion of genetic heterogeneity of PLCA, see {105250}.

Genes related to Amyloidosis, Primary Localized Cutaneous, 2; Plca2

IL31RA

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Clinical Features

Phenotypes and symptoms related to Amyloidosis, Primary Localized Cutaneous, 2; Plca2

Pruritus
Amyloidosis
Cutaneous amyloidosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Amyloidosis, Primary Localized Cutaneous, 2; Plca2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary amyloidosis (NGS panel of 19 genes). By CGC Genetics (Portugal). TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET Specificity 6 % Genes 100 %
Hereditary amyloidosis (NGS panel of 19 genes). By CGC Genetics (Portugal). TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET Specificity 6 % Genes 100 %
Amyloidosis, primary localized cutaneous, type 2. By Centogene AG - the Rare Disease Company (Germany). IL31RA Specificity 100 % Genes 100 %
IL31RA. By Fulgent Genetics Fulgent Genetics (United States). IL31RA Specificity 100 % Genes 100 %
AMYLOIDOSIS HEREDITARY NGS PANEL. By Laboratorio de Genetica Clinica SL (Spain). TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET Specificity 6 % Genes 100 %
AMYLOIDOSIS. By Laboratorio de Genetica Clinica SL (Spain). TTR, IL31RA, FGA, GSN, LYZ, OSMR, B2M Specificity 15 % Genes 100 %
Familial Amyloidosis and Related Disorders , Panel Massive Sequencing (NGS) 8 Genes. By Reference Laboratory Genetics (Spain). TTR, IL31RA, FGA, GSN, LYZ, OSMR, B2M Specificity 15 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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