Bardet-Biedl syndrome 9

General Information (adopted from Orphanet):

Synonyms, Signs: BBS9
Number of Symptoms 29
OrphanetNr:
OMIM Id: 615986
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
26518167 [IBIS]
Age of onset: Antenatal
26846096 [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-9 (BBS9) is caused by homozygosity or compound heterozygosity for mutations in the BBS9 (PTHB1) gene (OMIM).

Symptom Information: Sort by abundance 

1
 (HPO:0001627) Abnormal heart morphology 24849935 IBIS 19 / 7739
2
 (HPO:0000510) Rod-cone dystrophy Frequent [IBIS] 24849935; 22353939 IBIS 266 / 7739
3
 (HPO:0007893) Progressive retinal degeneration Frequent [IBIS] 26846096 IBIS 3 / 7739
4
 (HPO:0001513) Obesity Frequent [IBIS] 24849935; 22353939; 26846096 IBIS 172 / 7739
5
 (HPO:0001328) Specific learning disability Frequent [IBIS] 24849935 IBIS 114 / 7739
6
 (HPO:0001249) Intellectual disability Frequent [IBIS] 22353939; 26846096 IBIS 1089 / 7739
7
 (HPO:0010442) Polydactyly Frequent [IBIS] 26518167; 22353939 IBIS 69 / 7739
8
 (HPO:0006136) Bilateral postaxial polydactyly Frequent [IBIS] 26846096 IBIS 30 / 7739
9
 (HPO:0000026) Male hypogonadism Frequent [IBIS] 24849935 IBIS 20 / 7739
10
 (HPO:0000077) Abnormality of the kidney Frequent [IBIS] 22353939 IBIS 73 / 7739
11
 (HPO:0012211) Abnormal renal physiology Frequent [IBIS] 26846096 IBIS 23 / 7739
12
 (HPO:0000518) Cataract 24849935 IBIS 454 / 7739
13
 (HPO:0000639) Nystagmus 24849935 IBIS 555 / 7739
14
 (HPO:0000486) Strabismus 24849935 IBIS 576 / 7739
15
 (HPO:0000545) Myopia 24849935 IBIS 286 / 7739
16
 (HPO:0000662) Nyctalopia 24849935 IBIS 92 / 7739
17
 (HPO:0002251) Aganglionic megacolon 24849935 IBIS 78 / 7739
18
 (HPO:0000708) Behavioral abnormality 24849935 IBIS 212 / 7739
19
 (HPO:0001263) Global developmental delay 24849935; 26846096 IBIS 853 / 7739
20
 (HPO:0000750) Delayed speech and language development 26846096 IBIS 197 / 7739
21
 (HPO:0002167) Neurological speech impairment 24849935 IBIS 308 / 7739
22
 (HPO:0001250) Seizures 26518167 IBIS 1245 / 7739
23
 (HPO:0001161) Hand polydactyly 24849935 IBIS 71 / 7739
24
 (HPO:0001829) Foot polydactyly 24849935 IBIS 41 / 7739
25
 (HPO:0011927) Short digit 26518167; 24849935; 26846096 IBIS 17 / 7739
26
 (HPO:0001159) Syndactyly 26518167; 26846096 IBIS 140 / 7739
27
 (HPO:0011024) Abnormality of the gastrointestinal tract 26846096 IBIS 5 / 7739
28
 (HPO:0000164) Abnormality of the teeth 24849935 IBIS 291 / 7739
29
 (HPO:0012712) Mild hearing impairment 26846096 IBIS 3 / 7739

Associated genes:

BBS9;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: