| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Lipoid Proteinosis (ECM1) | mucosae or Urbach?Wiethe disease | Autosomal Recessive | 1q21.2 | Insertion | ECM1 | 62 bp | Frame shift mutation | 0/Nasir et al., 2009 | |
| Lipoid Proteinosis (ECM1) | hyaline-like in skin, mucosa & viscera | Autosomal Recessive | 1q21.2 | Nonsense | ECM1 | 742G>T | aSP248* | Premature Termination | 0/Nasir et al., 2014 |
| Lipoid Proteinosis (ECM1) | mucosae or Urbach?Wiethe disease | Autosomal Recessive | 1q21.2 | Deletion | ECM1 | c.507delT | p.169fs177* | Frame shift mutation & PTC | 0/Samdani et al., 2010 |
