BMPR1B

bone morphogenetic protein receptor type 1B

5 disorders 3 causative 1 no genetic record 1 untyped 4q22.3 gene with protein product

HGNC:1077 Monarch NCBI Gene 658 ENSG00000138696 UniProt O00238 OMIM 603248

Aliases: ALK6, CDw293.

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
Acromesomelic Dysplasia Demirhan Type	causative germline	mechanism: Biallelic BMPR1B Variants; Predicted Loss of Functional BMPR1B Protein animal model: Bmpr1b-null female reproductive model; Bmpr1b-null mouse appendicular development
Brachydactyly Type A2	causative germline	mechanism: Dominant-Negative BMPR1B Receptor Signaling
Du Pan Syndrome	causative germline	mechanism: Biallelic Hypomorphic Variants in GDF5 or BMPR1B
Brachydactyly Type A1	untyped CAUSAL	mechanism: Reduced GDF5-BMPR1B Signaling
Acromesomelic Dysplasia Grebe Type	no genetic record	mechanism: Loss of GDF5-BMPR1B Signaling in the Developing Limb

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

Mechanism modules · computed from kb/

limb_digit_patterning_serial_homology via Brachydactyly Type A1, Brachydactyly Type A2

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