PLCA2
MCID: AMY056
MIFTS: 18

Amyloidosis, Primary Localized Cutaneous, 2 (PLCA2)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases, Skin 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 72 29 13 6 39 70
Plca2 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
amyloidosis, primary localized cutaneous, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 613955
OMIM Phenotypic Series 57 PS105250
MeSH 44 D028226
MedGen 41 C3151404
UMLS 70 C3151404

Summaries for Amyloidosis, Primary Localized Cutaneous, 2

UniProtKB/Swiss-Prot : 72 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). 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) (Updated 20-May-2021)

Related Diseases for Amyloidosis, Primary Localized Cutaneous, 2

Symptoms & Phenotypes for Amyloidosis, Primary Localized Cutaneous, 2

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

31
# Description HPO Frequency HPO Source Accession
1 pruritus 31 HP:0000989
2 cutaneous amyloidosis 31 HP:0012309

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Publications for Amyloidosis, Primary Localized Cutaneous, 2

Articles related to Amyloidosis, Primary Localized Cutaneous, 2:

# Title Authors PMID Year
1
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. 57 6
19690585 2010
2
New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis. 57
19663869 2009

Variations for Amyloidosis, Primary Localized Cutaneous, 2

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL31RA NM_001242638.2(IL31RA):c.1505C>T (p.Ser502Phe) SNV Pathogenic 30790 rs1561123748 GRCh37: 5:55206420-55206420
GRCh38: 5:55910592-55910592
2 IL31RA NM_139017.7(IL31RA):c.1783del (p.Ser595fs) Deletion Pathogenic 1031631 GRCh37: 5:55210719-55210719
GRCh38: 5:55914891-55914891

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

72
# Symbol AA change Variation ID SNP ID
1 IL31RA p.Ser489Phe VAR_065809

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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