Bardet-Biedl syndrome 3

General Information (adopted from Orphanet):

Synonyms, Signs: BBS3
Number of Symptoms 17
OrphanetNr:
OMIM Id: 600151
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
24608809 [IBIS]
Age of onset: Childhood
11050632 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Bardet-Biedl syndrome
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare eye disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare renal disease

Comment:

Bardet-Biedl syndrome-3 (BBS3) is caused by homozygous mutation in the ARL6 gene (OMIM). Each BBS patient in this study displayed typical symptoms such as retinitis pigmentosa, obesity, and polydactyly. BBS was diagnosed primarily by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, cognitive impairment, and delayed development of motor skills (PMID:24608809).

Symptom Information: Sort by abundance 

1
 (HPO:0000510) Rod-cone dystrophy Frequent [IBIS] 24608809; 23219996; 11050632 IBIS 266 / 7739
2
 (HPO:0001513) Obesity Frequent [IBIS] 24608809; 23219996; 8588586 IBIS 172 / 7739
3
 (HPO:0100259) Postaxial polydactyly Frequent [IBIS] 8588586; 11050632 IBIS 85 / 7739
4
 (HPO:0010442) Polydactyly Frequent [IBIS] 24608809; 23219996 IBIS 69 / 7739
5
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 24608809 IBIS 230 / 7739
6
 (HPO:0000662) Nyctalopia 11050632 IBIS 92 / 7739
7
 (HPO:0000505) Visual impairment 22410627 IBIS 297 / 7739
8
 (HPO:0001141) Severe visual impairment 11050632 IBIS 11 / 7739
9
 (HPO:0001270) Motor delay 24608809 IBIS 322 / 7739
10
 (HPO:0001250) Seizures 11050632 IBIS 1245 / 7739
11
 (HPO:0001162) Postaxial hand polydactyly 23219996 IBIS 119 / 7739
12
 (HPO:0001830) Postaxial foot polydactyly 23219996 IBIS 37 / 7739
13
 (HPO:0100631) Neoplasm of the adrenal gland 11050632 IBIS 5 / 7739
14
 (HPO:0003241) External genital hypoplasia 24608809 IBIS 25 / 7739
15
 (HPO:0000175) Cleft palate 11050632 IBIS 349 / 7739
16
 (HPO:0002893) Pituitary adenoma 11050632 IBIS 16 / 7739
17
 (HPO:0005562) Multiple renal cysts 11050632 IBIS 16 / 7739

Associated genes:

ARL6;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: