AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PLCA2 |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
613955
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000989) | Pruritus | 111 / 7739 | ||||
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(HPO:0012309) | Cutaneous amyloidosis | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
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 ... |
| Molecular genetics OMIM |
In 8 Taiwanese families segregating primary localized cutaneous amyloidosis mapping to chromosome 5p13-q12 who did not have mutations in the OSMR gene (601743), Lin et al. (2010) screened for mutations in 2 other cytokine genes mapping to this ... |