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Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.
Features include always present findings: Postaxial polydactyly, Global developmental delay, Rod-cone dystrophy, and Brachycephaly and others; and very common findings: Hypogonadism. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Global developmental delay, Intellectual disability |
TTC8 function has not been fully characterized.
Bardet-Biedl syndrome 8 is associated with mutations in the TTC8 gene on chromosome 14.
Genetic testing for TTC8 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Bardet-Biedl syndrome 8 has been reported in the published literature.
Phenotype severity distribution: 5 always present features, 1 very common feature.
No clinical trials have been registered for Bardet-Biedl syndrome 8.
14 publications have been identified in PubMed for Bardet-Biedl syndrome 8. Research spans Epidemiology / Natural History (38%), Diagnostic / Biomarker (15%), and Clinical Trial Publication (15%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 5 | 38% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:47 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Bardet-Biedl syndrome 8
Kidneys and urinary system
1 |
Renal dysplasia |
Hormones | 1 | Hypogonadism |
Testing and diagnosis research
2 |
15% |
Clinical study results | 2 | 15% |
Laboratory research | 2 | 15% |
Research summaries | 1 | 8% |
New treatment approaches | 1 | 8% |
Thiriveedi D (2026). [PMID: 41766136](https://pubmed.ncbi.nlm.nih.gov/41766136/). *Clin Endocrinol (Oxf)*. [Epidemiology / Natural History]
Seyedtaghia MR (2026). [PMID: 40252141](https://pubmed.ncbi.nlm.nih.gov/40252141/). *Biochem Genet*. [Epidemiology / Natural History]
Hühne T (2026). [PMID: 40903014](https://pubmed.ncbi.nlm.nih.gov/40903014/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Fatima S (2026). [PMID: 41686921](https://pubmed.ncbi.nlm.nih.gov/41686921/). *Genet Mol Biol*. [Basic Science / Preclinical]
Varughese RS (2026). [PMID: 42044156](https://pubmed.ncbi.nlm.nih.gov/42044156/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Zmysłowska-Polakowska E (2025). [PMID: 41304128](https://pubmed.ncbi.nlm.nih.gov/41304128/). *Microorganisms*. [Basic Science / Preclinical]
Haqq AM (2025). [PMID: 39919037](https://pubmed.ncbi.nlm.nih.gov/39919037/). *J Clin Endocrinol Metab*. [Clinical Trial Publication]
Demas N (2025). [PMID: 40877827](https://pubmed.ncbi.nlm.nih.gov/40877827/). *BMC Med Genomics*. [Diagnostic / Biomarker]
McEntee KE (2025). [PMID: 41279107](https://pubmed.ncbi.nlm.nih.gov/41279107/). *bioRxiv*. [Gene Therapy / Novel Therapeutics]
Argente J (2025). [PMID: 39549719](https://pubmed.ncbi.nlm.nih.gov/39549719/). *Lancet Diabetes Endocrinol*. [Clinical Trial Publication]
AI-curated news mentioning Bardet-Biedl syndrome 8
Updated Sep 3, 2026
A recent study identifies multi-omics signatures associated with Alström and Bardet-Biedl syndromes through integrated oral microbiome and metabolome profiling. This research could pave the way for new diagnostic and therapeutic strategies for these rare diseases.
A recent study published in PubMed details the clinical, genetic, and endocrine features of Bardet-Biedl Syndrome across pediatric and adult cohorts. This research enhances understanding of the disease's manifestations and may inform future therapeutic strategies.
A recent study published in PubMed explores health-related quality of life, executive functioning, and eating behaviors in adults with Bardet-Biedl syndrome. This research provides insights into the daily challenges faced by this patient population.