Bardet-Biedl syndrome 4

General Information (adopted from Orphanet):

Synonyms, Signs: BBS4
Number of Symptoms 47
OrphanetNr:
OMIM Id: 615982
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-4 (BBS4) is caused by homozygous mutation in the BBS4 gene (OMIM).

Symptom Information: Sort by abundance 

1
 (HPO:0000510) Rod-cone dystrophy Frequent [IBIS] 19797195; 22219648 IBIS 266 / 7739
2
 (HPO:0000546) Retinal degeneration Frequent [IBIS] 15654695 IBIS 61 / 7739
3
 (HPO:0000548) Cone/cone-rod dystrophy Frequent [IBIS] 26518167; 24849935 IBIS 47 / 7739
4
 (HPO:0001513) Obesity Frequent [IBIS] 15654695; 24849935; 19797195; 8588586 IBIS 172 / 7739
5
 (HPO:0010442) Polydactyly Frequent [IBIS] 19797195 IBIS 69 / 7739
6
 (HPO:0001328) Specific learning disability Frequent [IBIS] 24849935 IBIS 114 / 7739
7
 (HPO:0001256) Intellectual disability, mild Frequent [IBIS] 26518167 IBIS 141 / 7739
8
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 15654695 IBIS 230 / 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] 19797195 IBIS 73 / 7739
12
 (HPO:0001830) Postaxial foot polydactyly 8588586 IBIS 37 / 7739
13
 (HPO:0001162) Postaxial hand polydactyly 8588586 IBIS 119 / 7739
14
 (HPO:0000490) Deeply set eye 22219648 IBIS 131 / 7739
15
 (HPO:0000639) Nystagmus 22219648 IBIS 555 / 7739
16
 (HPO:0000486) Strabismus 24849935 IBIS 576 / 7739
17
 (HPO:0000662) Nyctalopia 15654695; 24849935 IBIS 92 / 7739
18
 (HPO:0000505) Visual impairment 15654695 IBIS 297 / 7739
19
 (HPO:0000842) Hyperinsulinemia 26518167 IBIS 39 / 7739
20
 (HPO:0002251) Aganglionic megacolon 24849935 IBIS 78 / 7739
21
 (HPO:0000458) Anosmia 15654695 IBIS 49 / 7739
22
 (HPO:0002370) Poor coordination 24849935 IBIS 15 / 7739
23
 (HPO:0000708) Behavioral abnormality 24849935 IBIS 212 / 7739
24
 (HPO:0000718) Aggressive behavior 26518167 IBIS 109 / 7739
25
 (HPO:0001263) Global developmental delay 15654695; 26518167; 22219648 IBIS 853 / 7739
26
 (HPO:0010535) Sleep apnea 26518167 IBIS 24 / 7739
27
 (HPO:0000750) Delayed speech and language development 26518167; 22219648 IBIS 197 / 7739
28
 (HPO:0002167) Neurological speech impairment 24849935 IBIS 308 / 7739
29
 (HPO:0002373) Febrile seizures 26518167 IBIS 37 / 7739
30
 (HPO:0001161) Hand polydactyly 24849935 IBIS 71 / 7739
31
 (HPO:0004209) Clinodactyly of the 5th finger 15654695 IBIS 288 / 7739
32
 (HPO:0001829) Foot polydactyly 15654695; 24849935 IBIS 41 / 7739
33
 (HPO:0011927) Short digit 26518167 IBIS 17 / 7739
34
 (HPO:0001156) Brachydactyly syndrome 15654695 IBIS 180 / 7739
35
 (HPO:0001159) Syndactyly 26518167 IBIS 140 / 7739
36
 (HPO:0006101) Finger syndactyly 15654695 IBIS 198 / 7739
37
 (HPO:0001762) Talipes equinovarus 24849935 IBIS 309 / 7739
38
 (HPO:0002910) Elevated hepatic transaminases 26518167 IBIS 158 / 7739
39
 (HPO:0000028) Cryptorchidism 15654695 IBIS 347 / 7739
40
 (HPO:0001999) Abnormal facial shape 22219648 IBIS 169 / 7739
41
 (HPO:0000689) Dental malocclusion 26518167 IBIS 114 / 7739
42
 (HPO:0002705) High, narrow palate 26518167 IBIS 308 / 7739
43
 (HPO:0000164) Abnormality of the teeth 15654695 IBIS 291 / 7739
44
 (HPO:0000682) Abnormality of dental enamel 26518167 IBIS 102 / 7739
45
 (HPO:0000678) Dental crowding 26518167 IBIS 65 / 7739
46
 (HPO:0000107) Renal cyst 15654695 IBIS 126 / 7739
47
 (HPO:0005562) Multiple renal cysts 24849935 IBIS 16 / 7739

Associated genes:

BBS4;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: