AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1

General Information (adopted from Orphanet):

Synonyms, Signs: LICHEN AMYLOIDOSIS, FAMILIAL
AMYLOIDOSIS, FAMILIAL CUTANEOUS LICHEN
AMYLOIDOSIS IX
AMYLOIDOSIS, PRIMARY CUTANEOUS, 1
PCA1
PCA
PLCA1
Number of Symptoms 10
OrphanetNr:
OMIM Id: 105250
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001149) Lattice corneal dystrophy 7 / 7739
2
 (HPO:0009830) Peripheral neuropathy 206 / 7739
3
 (HPO:0007178) Motor polyneuropathy 31 / 7739
4
 (HPO:0003477) Peripheral axonal neuropathy 62 / 7739
5
 (HPO:0000989) Pruritus 111 / 7739
6
 (HPO:0000973) Cutis laxa 43 / 7739
7
 (OMIM) Localized amyloid deposition 1 / 7739
8
 (OMIM) Cranial neuropathy 1 / 7739
9
 (OMIM) Papular rash 1 / 7739
10
 (OMIM) No autonomic dysfunction 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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).

- ...
Clinical Description OMIM Sagher and Shanon (1963) found 3 cases of primary cutaneous amyloidosis in 3 generations of a Russian-Jewish family. Tay (1971) reported affected mother and daughter.

Rajagopalan and Tay (1972) reported 19 persons in 4 successive generations ...
Molecular genetics OMIM By candidate gene analysis of genes in the PLCA critical mapping region of chromosome 5, Arita et al. (2008) identified heterozygous missense mutations in the OSMR gene (601743.0001-601743.0002) in affected individuals of a large Brazilian family and in ...
Population genetics OMIM Familial primary cutaneous amyloidosis occurs more frequently in certain populations, i.e,, in China, Southeast Asia, and South America (Tanaka et al., 2009).