Familial primary localized cutaneous amyloidosis

General Information (adopted from Orphanet):

Synonyms, Signs: FPLCA
Number of Symptoms 7
OrphanetNr: 353220
OMIM Id: 105250
613955
ICD-10: E85.4+
L99.0*
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dermis disorder
 -Rare genetic disease
Primary cutaneous amyloidosis
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001149) Lattice corneal dystrophy 7 / 7739
2
 (HPO:0001291) Abnormality of the cranial nerves 27 / 7739
3
 (HPO:0000973) Cutis laxa 43 / 7739
4
 (HPO:0000989) Pruritus 111 / 7739
5
 (HPO:0011034) Amyloidosis 12 / 7739
6
 (HPO:0003581) Adult onset 117 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: