BMPR2 - Gene browser

BMPR2

bone morphogenetic protein receptor type 2

HCNC Approved Symbol: BMPR2 (HGNC:1078)
Genomic Coordinates: 2:202,376,327 - 202,567,749 (2q33.1-q33.2)
Synonyms: BRK-3, T-ALK, BMPR3, BMPR-II, PPH1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the BMPR2 gene.

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

04
Patient count

Pulmonary arterial hypertension: 3 (75.0%)
Patient Count: 3 (75.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (75.0%)
Dyspnea: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Hypertension: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Hemangiomatosis: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Pulmonary capillary hemangiomatosis: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)