Features include always present findings: Decreased body weight, Femoral bowing, Short stature, and Weak and brittle bones (osteoporosis) and others; and common findings: Long philtrum, Generalized hypotonia, Limitation of knee mobility, and Enlarged thorax and others. 38 total HPO annotations.

BMP1 encodes bone morphogenetic protein 1 (986 aa). Metalloprotease that plays key roles in regulating the formation of the extracellular matrix (ECM) via processing of various precursor proteins into mature functional enzymes or structural proteins. Highest expression in Cervix Endocervix (93.6 TPM) and Cervix Ectocervix (89.7 TPM).

Osteogenesis imperfecta type 13 is associated with mutations in the BMP1 gene on chromosome 8.

The BMP1 protein participates in BMP1, TLL1, TLL2, Cathepsin L1 pathway.

BMP1 is classified as a druggable target (Druggable Genome, Enzyme, Growth Factor, Neutral Zinc Metallopeptidase, and Protease categories) with score 52.2.

Genetic testing for BMP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for osteogenesis imperfecta type 13 has been reported in the published literature.

Phenotype severity distribution: 10 always present features, 21 common features.

No clinical trials have been registered for osteogenesis imperfecta type 13.

55 publications have been identified in PubMed for osteogenesis imperfecta type 13. Research spans Basic Science / Preclinical (29%), Case Report / Case Series (25%), and Clinical Trial Publication (22%).