BMPR1A

bone morphogenetic protein receptor type 1A

3 disorders 1 susceptibility 1 untyped 1 no genetic record 10q23.2 gene with protein product

HGNC:1076 Monarch NCBI Gene 657 ENSG00000107779 UniProt P36894 OMIM 601299

Previous symbols: ACVRLK3. Aliases: ALK3, CD292.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
10q22.3q23.3 Microduplication Syndrome	susceptibility
Juvenile Polyposis Syndrome	untyped Causative	mechanism: Germline BMPR1A loss-of-function predisposition diagnosis: Molecular genetic testing for BMPR1A and SMAD4
WAPL-Related Developmental Disorder	no genetic record	mechanism: Contiguous Loss of Neighbouring Genes

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
pulmonary arterial hypertension MONDO:0015924	UD	Disputed 2022-10-18	Pulmonary_hypertension not named
juvenile polyposis syndrome MONDO:0017380	AD	Definitive 2022-12-30	Juvenile Polyposis Syndrome untyped

Mechanism modules · computed from kb/

germline_two_hit_tumor_predisposition via Juvenile Polyposis Syndrome

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.