Bardet-Biedl syndrome 12

General Information (adopted from Orphanet):

Synonyms, Signs: BBS12
Number of Symptoms 57
OrphanetNr:
OMIM Id: 615989
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
24611592 [IBIS]
Age of onset: Childhood
26082521 [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-12 (BBS12) is caused by homozygous or compound heterozygous mutation in the BBS12 gene (OMIM). The chaperonin-like proteins BBS6, BBS10, and BBS12, have been defined as a vertebrate-specific branch of the type II chaperonin superfamily. Thirty-six per cent of cases (12/33) with a ‘chaperonin-like’ BBS mutation also had additional mutated alleles in at least one other BBS gene (PMID:20472660).

Symptom Information: Sort by abundance 

1
 (HPO:0000510) Rod-cone dystrophy Frequent [IBIS] 24849935; 19797195 IBIS 266 / 7739
2
 (HPO:0000556) Retinal dystrophy Very frequent [IBIS] 20472660; 26082521 IBIS 65 / 7739
3
 (HPO:0000548) Cone/cone-rod dystrophy Frequent [IBIS] 20648243; 25982971 IBIS 47 / 7739
4
 (HPO:0001513) Obesity Very frequent [IBIS] 20472660; 26082521; 25982971; 24849935 IBIS 172 / 7739
5
 (HPO:0001328) Specific learning disability Frequent [IBIS] 25982971 IBIS 114 / 7739
6
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 20472660; 26082521 IBIS 230 / 7739
7
 (HPO:0010442) Polydactyly Frequent [IBIS] 20472660; 26082521; 25982971; 19797195 IBIS 69 / 7739
8
 (HPO:0100259) Postaxial polydactyly Frequent [IBIS] 20648243 IBIS 85 / 7739
9
 (HPO:0000135) Hypogonadism Frequent [IBIS] 19797195 IBIS 89 / 7739
10
 (HPO:0000026) Male hypogonadism Frequent [IBIS] 24849935 IBIS 20 / 7739
11
 (HPO:0000077) Abnormality of the kidney Frequent [IBIS] 26082521; 19797195 IBIS 73 / 7739
12
 (HPO:0012210) Abnormal renal morphology Frequent [IBIS] 20472660 IBIS 18 / 7739
13
 (HPO:0000119) Abnormality of the genitourinary system Frequent [IBIS] 26082521 IBIS 34 / 7739
14
 (HPO:0000483) Astigmatism 20648243 IBIS 67 / 7739
15
 (HPO:0007401) Macular atrophy 25982971 IBIS 14 / 7739
16
 (HPO:0000639) Nystagmus 26082521 IBIS 555 / 7739
17
 (HPO:0000545) Myopia 20648243; 24849935 IBIS 286 / 7739
18
 (HPO:0007675) Progressive night blindness 20648243 IBIS 4 / 7739
19
 (HPO:0000505) Visual impairment 20648243; 25982971 IBIS 297 / 7739
20
 (HPO:0002099) Asthma 26082521 IBIS 62 / 7739
21
 (HPO:0004322) Short stature 24849935 IBIS 1232 / 7739
22
 (HPO:0003076) Glycosuria 24849935 IBIS 32 / 7739
23
 (HPO:0000842) Hyperinsulinemia 20472660 IBIS 39 / 7739
24
 (HPO:0003119) Abnormality of lipid metabolism 20472660 IBIS 60 / 7739
25
 (HPO:0001397) Hepatic steatosis 26082521 IBIS 75 / 7739
26
 (HPO:0001290) Generalized hypotonia 26082521 IBIS 51 / 7739
27
 (HPO:0000708) Behavioral abnormality 24849935 IBIS 212 / 7739
28
 (HPO:0001263) Global developmental delay 20472660; 26082521 IBIS 853 / 7739
29
 (HPO:0001288) Gait disturbance 26082521 IBIS 318 / 7739
30
 (HPO:0003259) Elevated serum creatinine 24849935 IBIS 31 / 7739
31
 (HPO:0001161) Hand polydactyly 24849935 IBIS 71 / 7739
32
 (HPO:0001829) Foot polydactyly 24849935 IBIS 41 / 7739
33
 (HPO:0011927) Short digit 26082521; 24849935 IBIS 17 / 7739
34
 (HPO:0001159) Syndactyly 26082521; 24849935 IBIS 140 / 7739
35
 (HPO:0002023) Anal atresia 25982971 IBIS 135 / 7739
36
 (HPO:0002910) Elevated hepatic transaminases 20472660 IBIS 158 / 7739
37
 (HPO:0001626) Abnormality of the cardiovascular system 26082521 IBIS 73 / 7739
38
 (HPO:0000047) Hypospadias 20472660 IBIS 250 / 7739
39
 (HPO:0000795) Abnormality of the urethra 24849935 IBIS 38 / 7739
40
 (HPO:0000028) Cryptorchidism 26082521 IBIS 347 / 7739
41
 (HPO:0000812) Abnormal internal genitalia 20472660 IBIS 5 / 7739
42
 (HPO:0000130) Abnormality of the uterus 24849935 IBIS 86 / 7739
43
 (HPO:0000148) Vaginal atresia 20472660; 24849935 IBIS 16 / 7739
44
 (HPO:0000407) Sensorineural hearing impairment 26082521 IBIS 524 / 7739
45
 (HPO:0000821) Hypothyroidism 24849935 IBIS 141 / 7739
46
 (HPO:0002048) Renal cortical atrophy 24849935 IBIS 3 / 7739
47
 (HPO:0000126) Hydronephrosis 24849935 IBIS 119 / 7739
48
 (HPO:0005562) Multiple renal cysts 24849935 IBIS 16 / 7739
49
 (HPO:0000083) Renal insufficiency 25982971 IBIS 232 / 7739
50
 (HPO:0000873) Diabetes insipidus 24849935 IBIS 34 / 7739
51
 (HPO:0000819) Diabetes mellitus 20472660 IBIS 131 / 7739
52
 (HPO:0001510) Growth delay 24849935 IBIS 295 / 7739
53
 (HPO:0000365) Hearing impairment 20472660; 26082521 IBIS 539 / 7739
54
 (HPO:0030010) Hydrometrocolpos 26082521 IBIS 6 / 7739
55
 (MedDRA:10052066) Metabolic syndrome 26082521 IBIS 2 / 7739
56
 (OMIM) Atypical retinitis pigmentosa 20648243 IBIS 3 / 7739
57
 (OMIM) Renal parenchymal disease 24849935 IBIS 2 / 7739

Associated genes:

BBS12;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: