MMP1

Red MMP1 in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.11

Sources

• Radboud University Medical Center, Nijmegen

Phenotypes

• COPD, rate of decline of lung function in, 606963
• {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600

Red MMP1 in Epidermolysis bullosa and congenital skin fragility

Version 2.7
Latest signed off version: v2.2 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600
• COPD, rate of decline of lung function in, 606963

Red MMP1 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Red
• UKGTN

Phenotypes

• {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}