Amyloidosis, Primary Localized Cutaneous, 1; Plca1

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). Genetic Heterogeneity of Primary Localized Cutaneous AmyloidosisPrimary localized cutaneous amyloidosis-2 (PLCA2 ) is caused by heterozygous mutation in the IL31RA gene (OMIM ) on chromosome 5q11. Primary localized cutaneous amyloidosis-3 (PLCA3 ) is caused by mutation in the GPNMB gene (OMIM ) on chromosome 7p15.

Clinical Features

Top most frequent phenotypes and symptoms related to Amyloidosis, Primary Localized Cutaneous, 1; Plca1

  • Neoplasm
  • Peripheral neuropathy
  • Papule
  • Pruritus
  • Dry skin
  • Cutis laxa
  • Scaling skin
  • Amyloidosis
  • Abnormal cranial nerve morphology
  • Neoplasm of the endocrine system

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Amyloidosis, Primary Localized Cutaneous, 1; Plca1 Is also known as amyloidosis ix, amyloidosis, familial cutaneous lichen, pca, lichen amyloidosis, familial, amyloidosis, primary cutaneous, 1, pca1.

Researches and researchers

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Amyloidosis, Primary Localized Cutaneous, 1; Plca1 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 1.

By Centogene AG - the Rare Disease Company (Germany).

OSMR
Specificity
100 %
Genes
100 %
OSMR.

By Fulgent Genetics Fulgent Genetics (United States).

OSMR
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 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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