Bardet-Biedl syndrome 5

General Information (adopted from Orphanet):

Synonyms, Signs: BBS5
Number of Symptoms 26
OrphanetNr:
OMIM Id: 615983
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
25982971 [IBIS]
Age of onset: Childhood
25982971 [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-5 (BBS5) is caused by homozygous mutation in the BBS5 gene (OMIM).

Symptom Information: Sort by abundance 

1
 (HPO:0000510) Rod-cone dystrophy Frequent [IBIS] 19797195; 18203199 IBIS 266 / 7739
2
 (HPO:0000556) Retinal dystrophy Frequent [IBIS] 25982971 IBIS 65 / 7739
3
 (HPO:0000548) Cone/cone-rod dystrophy Frequent [IBIS] 25982971; 26325687 IBIS 47 / 7739
4
 (HPO:0000026) Male hypogonadism Frequent [IBIS] 26325687 IBIS 20 / 7739
5
 (HPO:0000135) Hypogonadism Frequent [IBIS] 25982971; 19797195 IBIS 89 / 7739
6
 (HPO:0001513) Obesity Frequent [IBIS] 25982971; 19797195; 18203199; 26325687 IBIS 172 / 7739
7
 (HPO:0001328) Specific learning disability Frequent [IBIS] 25982971 IBIS 114 / 7739
8
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 18203199; 26325687 IBIS 230 / 7739
9
 (HPO:0010442) Polydactyly Frequent [IBIS] 25982971; 19797195; 26325687 IBIS 69 / 7739
10
 (HPO:0100259) Postaxial polydactyly Frequent [IBIS] 18203199 IBIS 85 / 7739
11
 (HPO:0000077) Abnormality of the kidney Frequent [IBIS] 18203199 IBIS 73 / 7739
12
 (HPO:0001395) Hepatic fibrosis 26325687 IBIS 67 / 7739
13
 (HPO:0007787) Posterior subcapsular cataract 22410627 IBIS 20 / 7739
14
 (HPO:0007401) Macular atrophy 25982971 IBIS 14 / 7739
15
 (HPO:0007737) Bone spicule pigmentation of the retina 22410627 IBIS 26 / 7739
16
 (HPO:0000613) Photophobia 25982971 IBIS 158 / 7739
17
 (HPO:0000505) Visual impairment 22410627; 25982971 IBIS 297 / 7739
18
 (HPO:0003119) Abnormality of lipid metabolism 25982971 IBIS 60 / 7739
19
 (HPO:0001397) Hepatic steatosis 25982971 IBIS 75 / 7739
20
 (HPO:0004409) Hyposmia 25982971 IBIS 16 / 7739
21
 (HPO:0000708) Behavioral abnormality 25982971 IBIS 212 / 7739
22
 (HPO:0000716) Depression 25982971 IBIS 99 / 7739
23
 (HPO:0010535) Sleep apnea 25982971 IBIS 24 / 7739
24
 (HPO:0003241) External genital hypoplasia 18203199 IBIS 25 / 7739
25
 (HPO:0000819) Diabetes mellitus 25982971 IBIS 131 / 7739
26
 (HPO:0000365) Hearing impairment 25982971 IBIS 539 / 7739

Associated genes:

BBS5;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: