Bardet-Biedl syndrome 2

General Information (adopted from Orphanet):

Synonyms, Signs: BBS2
Number of Symptoms 52
OrphanetNr:
OMIM Id: 615981
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
26518167 [IBIS]
Age of onset: Childhood
26518167 [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-2 (BBS2) is caused by homozygous or compound heterozygous mutations in the BBS2 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; 24849935; 22353939; 19797195; 25541840; 26078953 IBIS 266 / 7739
2
 (HPO:0000548) Cone/cone-rod dystrophy Frequent [IBIS] 26518167; 24849935 IBIS 47 / 7739
3
 (HPO:0001513) Obesity Frequent [IBIS] 24608809; 24849935; 22353939; 19797195; 8588586; 25541840; 26078953; 26325687 IBIS 172 / 7739
4
 (HPO:0100259) Postaxial polydactyly Frequent [IBIS] 8588586; 26078953 IBIS 85 / 7739
5
 (HPO:0010442) Polydactyly Frequent [IBIS] 24608809; 26518167; 22353939; 19797195; 25541840; 26325687 IBIS 69 / 7739
6
 (HPO:0001256) Intellectual disability, mild Frequent [IBIS] 26518167 IBIS 141 / 7739
7
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 24608809; 26325687 IBIS 230 / 7739
8
 (HPO:0001328) Specific learning disability Frequent [IBIS] 24849935; 22353939; 25541840; 26078953 IBIS 114 / 7739
9
 (HPO:0000135) Hypogonadism Frequent [IBIS] 26518167 IBIS 89 / 7739
10
 (HPO:0000026) Male hypogonadism Frequent [IBIS] 24849935; 26325687 IBIS 20 / 7739
11
 (HPO:0000077) Abnormality of the kidney Frequent [IBIS] 24849935; 19797195 IBIS 73 / 7739
12
 (HPO:0000483) Astigmatism 24849935 IBIS 67 / 7739
13
 (HPO:0000518) Cataract 26518167; 24849935; 25541840 IBIS 454 / 7739
14
 (HPO:0007787) Posterior subcapsular cataract 22410627 IBIS 20 / 7739
15
 (HPO:0007737) Bone spicule pigmentation of the retina 22410627 IBIS 26 / 7739
16
 (HPO:0000486) Strabismus 26518167; 24849935 IBIS 576 / 7739
17
 (HPO:0000545) Myopia 26518167; 24849935 IBIS 286 / 7739
18
 (HPO:0000662) Nyctalopia 24849935 IBIS 92 / 7739
19
 (HPO:0000505) Visual impairment 22410627; 26078953 IBIS 297 / 7739
20
 (HPO:0000842) Hyperinsulinemia 26518167 IBIS 39 / 7739
21
 (HPO:0001631) Atria septal defect 26518167 IBIS 274 / 7739
22
 (HPO:0001677) Coronary artery disease 25541840 IBIS 58 / 7739
23
 (HPO:0000822) Hypertension 25541840 IBIS 224 / 7739
24
 (HPO:0100326) Immunologic hypersensitivity 22353939 IBIS 28 / 7739
25
 (HPO:0003124) Hypercholesterolemia 26518167 IBIS 53 / 7739
26
 (HPO:0002155) Hypertriglyceridemia 26518167 IBIS 67 / 7739
27
 (HPO:0001397) Hepatic steatosis 26518167 IBIS 75 / 7739
28
 (HPO:0000712) Emotional lability 26518167 IBIS 44 / 7739
29
 (HPO:0001263) Global developmental delay 26518167 IBIS 853 / 7739
30
 (HPO:0001270) Motor delay 24608809 IBIS 322 / 7739
31
 (HPO:0010535) Sleep apnea 26518167 IBIS 24 / 7739
32
 (HPO:0000750) Delayed speech and language development 26518167 IBIS 197 / 7739
33
 (HPO:0002167) Neurological speech impairment 24849935 IBIS 308 / 7739
34
 (HPO:0000752) Hyperactivity 24849935 IBIS 140 / 7739
35
 (HPO:0001250) Seizures 26325687 IBIS 1245 / 7739
36
 (HPO:0001511) Intrauterine growth retardation 24849935 IBIS 358 / 7739
37
 (HPO:0001161) Hand polydactyly 24849935 IBIS 71 / 7739
38
 (HPO:0001829) Foot polydactyly 24849935 IBIS 41 / 7739
39
 (HPO:0011927) Short digit 26518167; 24849935 IBIS 17 / 7739
40
 (HPO:0001159) Syndactyly 26518167 IBIS 140 / 7739
41
 (HPO:0002240) Hepatomegaly 26518167 IBIS 467 / 7739
42
 (HPO:0000028) Cryptorchidism 24849935 IBIS 347 / 7739
43
 (HPO:0003241) External genital hypoplasia 24608809; 22353939 IBIS 25 / 7739
44
 (HPO:0000689) Dental malocclusion 26518167 IBIS 114 / 7739
45
 (HPO:0002705) High, narrow palate 26518167 IBIS 308 / 7739
46
 (HPO:0000678) Dental crowding 26078953 IBIS 65 / 7739
47
 (HPO:0000083) Renal insufficiency 26078953 IBIS 232 / 7739
48
 (HPO:0012622) Chronic kidney disease 26518167 IBIS 32 / 7739
49
 (HPO:0000093) Proteinuria 26078953 IBIS 169 / 7739
50
 (HPO:0000819) Diabetes mellitus 26078953 IBIS 131 / 7739
51
 (HPO:0030010) Hydrometrocolpos 26518167 IBIS 6 / 7739
52
 (HPO:0012712) Mild hearing impairment 25541840 IBIS 3 / 7739

Associated genes:

BBS2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: