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brachydactyly type A1D (BDA1D) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly type A1D

MONDO:0014798

Also known as:BDA1DBMPR1B brachydactyly type A1brachydactyly type A1 caused by mutation in BMPR1B

Overview

Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.

GeneticsAutosomal dominant · BMPR1B (chr 4)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Short distal phalanx of the thumb, Short proximal phalanx of finger, Short middle phalanx of the 5th finger, and Short distal phalanx of the 2nd finger and others; and common findings: Delayed speech and language development. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	6	Abnormal foot morphology, Short proximal phalanx of finger, Short middle phalanx of the 5th finger

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

BMPR1B encodes bone morphogenetic protein receptor type 1B (502 aa). On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Highest expression in Nerve Tibial (19.1 TPM) and Prostate (13.7 TPM).

Brachydactyly type A1D is associated with mutations in the BMPR1B gene on chromosome 4.

The BMPR1B protein participates in Signaling by BMP and Definitive endoderm cell produces ventral foregut endoderm cell pathways.

BMPR1B is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 6.5.

Diagnosis

Genetic testing for BMPR1B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 1 common feature.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616849

GARD

Genetic and Rare Diseases Info Center

GARD:16164

Questions for Your Care Team

→Should I pursue genetic testing for BMPR1B, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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brachydactyly type A1D

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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