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Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.
Features include always present findings: Weak and brittle bones (osteoporosis), Knee flexion contracture, Ankle flexion contracture, and Increased susceptibility to fractures and others. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 6 | Sideways curvature of the spine (scoliosis), Joint hypermobility, Weak and brittle bones (osteoporosis) |
FKBP10 encodes FKBP prolyl isomerase 10 (582 aa). PPIases accelerate the folding of proteins during protein synthesis Highest expression in Cells Cultured fibroblasts (536.7 TPM) and Artery Aorta (242.2 TPM).
Bruck syndrome 1 is associated with mutations in the FKBP10 gene on chromosome 17.
The FKBP10 protein participates in Proline hydroxylases hydroxylate Polyprotein pathway.
FKBP10 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.
Genetic testing for FKBP10 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 always present features.
No clinical trials have been registered for Bruck syndrome 1.
11 publications have been identified in PubMed for Bruck syndrome 1. Research spans Case Report / Case Series (55%), Basic Science / Preclinical (36%), and Review / Meta-Analysis (9%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 55% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC
Online Mendelian Inheritance in Man
Common questions about Bruck syndrome 1
Muscles |
4 |
Hip contracture, Knee flexion contracture, Ankle flexion contracture |
Ears | 1 | Hearing abnormality |
Growth and development | 1 | Short stature |
Age of onset: at birth.
4 |
36% |
Research summaries | 1 | 9% |
Patra S (2026). [PMID: 42147077](https://pubmed.ncbi.nlm.nih.gov/42147077/). *JCEM Case Rep*. [Case Report / Case Series]
Sriudomporn K (2026). [PMID: 41699528](https://pubmed.ncbi.nlm.nih.gov/41699528/). *BMC pregnancy and childbirth*. [Basic Science / Preclinical]
Vural Topaktaş G (2025). [PMID: 41243835](https://pubmed.ncbi.nlm.nih.gov/41243835/). *Journal of clinical research in pediatric endocrinology*. [Case Report / Case Series]
Punnaniti K (2025). [PMID: 39893961](https://pubmed.ncbi.nlm.nih.gov/39893961/). *International journal of surgery case reports*. [Case Report / Case Series]
Jarayseh T (2024). [PMID: 39566080](https://pubmed.ncbi.nlm.nih.gov/39566080/). *Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research*. [Basic Science / Preclinical]
Shang L (2024). [PMID: 38590901](https://pubmed.ncbi.nlm.nih.gov/38590901/). *Heliyon*. [Case Report / Case Series]
Merkuryeva ES (2024). [PMID: 38927610](https://pubmed.ncbi.nlm.nih.gov/38927610/). *Genes*. [Review / Meta-Analysis]
Abdulmalek O (2024). [PMID: 39641041](https://pubmed.ncbi.nlm.nih.gov/39641041/). *Heliyon*. [Case Report / Case Series]
Bolshakova OI (2024). [PMID: 39769143](https://pubmed.ncbi.nlm.nih.gov/39769143/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Yelkur P (2024). [PMID: 38983978](https://pubmed.ncbi.nlm.nih.gov/38983978/). *Cureus*. [Case Report / Case Series]
AI-curated news mentioning Bruck syndrome 1
Updated Aug 25, 2026
A study from two centers in the UAE explores the phenotypic spectrum and quality of life in pediatric patients with Bruck syndrome linked to FKBP10 and PLOD2 gene variants. This research contributes to understanding the clinical presentation and patient experiences associated with this rare condition.