MCID: AMY056
MIFTS: 16

Amyloidosis, Primary Localized Cutaneous, 2

Categories: Genetic diseases, Rare diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Amyloidosis, Primary Localized Cutaneous, 2

MalaCards integrated aliases for Amyloidosis, Primary Localized Cutaneous, 2:

Name: Amyloidosis, Primary Localized Cutaneous, 2 57 75 29 13 6 40 73
Plca2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
mutations in il31ra identified in taiwanese and chilean families
minimal clinical information provided


HPO:

32
amyloidosis, primary localized cutaneous, 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Amyloidosis, Primary Localized Cutaneous, 2

UniProtKB/Swiss-Prot : 75 Amyloidosis, primary localized cutaneous, 2: 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, 2, is also known as plca2. An important gene associated with Amyloidosis, Primary Localized Cutaneous, 2 is IL31RA (Interleukin 31 Receptor A). Affiliated tissues include skin, and related phenotypes are pruritus and cutaneous 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). For a general description and a discussion of genetic heterogeneity of PLCA, see 105250. (613955)

Related Diseases for Amyloidosis, Primary Localized Cutaneous, 2

Symptoms & Phenotypes for Amyloidosis, Primary Localized Cutaneous, 2

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
pruritis (itchy skin)

Skin Nails Hair Skin Histology:
focal deposition of amyloid in the dermal papillae of lesional skin


Clinical features from OMIM:

613955

Human phenotypes related to Amyloidosis, Primary Localized Cutaneous, 2:

32
# Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 cutaneous amyloidosis 32 HP:0012309

Drugs & Therapeutics for Amyloidosis, Primary Localized Cutaneous, 2

Search Clinical Trials , NIH Clinical Center for Amyloidosis, Primary Localized Cutaneous, 2

Genetic Tests for Amyloidosis, Primary Localized Cutaneous, 2

Genetic tests related to Amyloidosis, Primary Localized Cutaneous, 2:

# Genetic test Affiliating Genes
1 Amyloidosis, Primary Localized Cutaneous, 2 29 IL31RA

Anatomical Context for Amyloidosis, Primary Localized Cutaneous, 2

MalaCards organs/tissues related to Amyloidosis, Primary Localized Cutaneous, 2:

41
Skin

Publications for Amyloidosis, Primary Localized Cutaneous, 2

Variations for Amyloidosis, Primary Localized Cutaneous, 2

UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 2:

75
# Symbol AA change Variation ID SNP ID
1 IL31RA p.Ser489Phe VAR_065809

ClinVar genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IL31RA IL31RA, SER521PHE single nucleotide variant Pathogenic

Expression for Amyloidosis, Primary Localized Cutaneous, 2

Search GEO for disease gene expression data for Amyloidosis, Primary Localized Cutaneous, 2.

Pathways for Amyloidosis, Primary Localized Cutaneous, 2

GO Terms for Amyloidosis, Primary Localized Cutaneous, 2

Sources for Amyloidosis, Primary Localized Cutaneous, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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49 NCI
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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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