Bardet-Biedl syndrome Disease

About Gene:

Bardet-Biedl syndrome is a multisystem disease that shows a wide range of symptoms.

Number of Patients: 3

Disease Causing Genes:

BBS1-12 LOC116158507 HSPB11 SCLT1 IFT81 MYO9A RCN2 NPHP1 RAB11A STUB1 BBIP1 CCDC28B IFT27 NFE2L2 IFT172 BBS12 LZTFL1 MKS1 IFT74 TMEM67 TRIM32 WDPCP CFAP418 TTC8 BBS7 BBS10 BBS9 BBS5 BBS2 ARL6 SDCCAG8 BBS1-12 BBS4 CEP290 MKKS BBS1 LEP

Sign and Symptoms:

  1. Polydactyly
  2. Congenital heart defect
  3. Ataxia
  4. Rod-cone dystrophy
  5. Obesity
  6. Learning disability
  7. Hypogonadism in males
  8. Renal anomalies
  9. Speech disorder
  10. Strabismus
  11. Cataracts
  12. Astigmatism
  13. Development delay
  14. Nephrogenic diabetes insipidus
  15. Mild spasticity
  16. Dental crowding
  17. Hypodontia
  18. Small dental roots
  19. Left ventricular hypertrophy
  20. Hepatic fibrosis
  21. Blindness
  22. Photophobia

Diagnosis:

Medical history collection, Physical examination, Biochemical findings, Organ function tests, Genital examination, Hormone analysis, X-ray, EKG or ECG

Preventions:

Treatment:

Symptomatic treatment