BMPR1A - Gene browser

BMPR1A

bone morphogenetic protein receptor type 1A

HCNC Approved Symbol: BMPR1A (HGNC:1076)
Genomic Coordinates: 10:86,755,763 - 86,932,844 (10q23.2)
Synonyms: ALK3, CD292, ACVRLK3
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the BMPR1A gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

06
Patient count

Colorectal polyposis: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Broad hands: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Delayed bone age: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Facial dysmorphism: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Growth delay: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)