| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Primary Localized Cutaneous Amyloidosis (OSMR) | Chronic itchy skin | Autosomal Recessive | 5p14.2–q11.2 | Missense mutation | OSMR | 1385A>G | Asn462Ser | Amino Acid Substitution | Wali et al., 2015/2015 |
