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Also known as:BBS19Bardet-Biedl syndrome caused by mutation in IFT27Bardet-Biedl syndrome type 19
Overview
Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.
GeneticsAutosomal recessive · IFT27 (chr 22)
ResearchLimited published research (3 articles)
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: Partial atrioventricular canal defect, Mesoaxial hand polydactyly, Rod-cone dystrophy, and Exodeviation and others; and very common findings: Postaxial polydactyly. 27 total HPO annotations.
Organ System
Phenotype Count
Example Features
Heart and blood vessels
3
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect
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.
IFT27 encodes intraflagellar transport 27 (186 aa). Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6. Highest expression in Pituitary (48.2 TPM) and Testis (31.5 TPM).
Bardet-Biedl syndrome 19 is associated with mutations in the IFT27 gene on chromosome 22.
The IFT27 protein participates in The anterograde IFT train dissociates and ARL6:GTP and the BBSome bind ciliary cargo pathways.
IFT27 is classified as a druggable target with score 0.0.
Diagnosis
Genetic testing for IFT27 is available. Testing is considered confirmatory for diagnosis.
Prognosis
Phenotype severity distribution: 13 always present features, 1 very common feature, 1 common feature.
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for Bardet-Biedl syndrome 19.
3 publications have been identified in PubMed for Bardet-Biedl syndrome 19. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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FAQ
Frequently Asked Questions
Common questions about Bardet-Biedl syndrome 19
Bardet-Biedl syndrome 19 is a rare inherited condition that is part of a group of disorders known as Bardet-Biedl syndromes. This specific type is caused by a mutation in the IFT27 gene, which plays a role in the normal function of cells.
The condition is one of several forms of Bardet-Biedl syndrome and is identified by its genetic cause. Detailed information about the complete range of symptoms and effects is still being explored by researchers.
Information about symptoms is currently limited for this condition.
Bardet-Biedl syndrome 19 is caused by a mutation in the IFT27 gene. Changes in this gene disrupt normal cellular functions, which is linked to the development of this form of Bardet-Biedl syndrome. This mutation is the key factor that underlies the condition. Associated genes include IFT27.
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.
