Bardet-Biedl syndrome 1
Findings
No curated finding names Bardet-Biedl syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.
Definition from the Mondo Disease Ontology (MONDO:0008854), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal obesityHPOHP:0012743
- 1 of 1 reported patient
- AstigmatismHPOHP:0000483
- 3 of 3 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 4 of 4 reported patients
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Hyperautofluorescent macular lesionHPOHP:0030631
- 1 of 1 reported patient
- Insulin resistanceHPOHP:0000855
- 1 of 1 reported patient
- NyctalopiaHPOHP:0000662
Show the remaining 17
- Retinal degenerationHPOHP:0000546
- 1 of 1 reported patient
- Rod-cone dystrophyHPOHP:0000510
- 24 of 24 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 3 of 3 reported patients
- ObesityHPOHP:0001513
- 11 of 12 reported patients
- Truncal obesityHPOHP:0001956
- 18 of 22 reported patients
- Intellectual disabilityHPOHP:0001249
- 26 of 33 reported patients
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BBS1HGNC:966
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- CCDC28BHGNC:28163
- No Known Disease Relationship · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: Bardet-Biedl syndrome 1
- Also called
- Bardet-Biedl syndrome 1, modifier ofBardet-Biedl syndrome type 1BBS1