Bardet-Biedl syndrome 6

General Information (adopted from Orphanet):

Synonyms, Signs: BBS6
Number of Symptoms 27
OrphanetNr:
OMIM Id: 605231
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
20472660 [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-6 (BBS6) is caused by homozygous or compound heterozygous mutation in the MKKS 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] 10973238; 24608809; 22353939 IBIS 266 / 7739
2
 (HPO:0000556) Retinal dystrophy Frequent [IBIS] 20472660; 26082521; 10973251 IBIS 65 / 7739
3
 (HPO:0001513) Obesity Frequent [IBIS] 10973238; 24608809; 20472660; 26082521; 25982971; 22353939; 10973251 IBIS 172 / 7739
4
 (HPO:0001328) Specific learning disability Frequent [IBIS] 10973251 IBIS 114 / 7739
5
 (HPO:0001249) Intellectual disability Frequent [IBIS] 10973238 IBIS 1089 / 7739
6
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 24608809; 20472660; 26082521 IBIS 230 / 7739
7
 (HPO:0001256) Intellectual disability, mild 10973238 IBIS 141 / 7739
8
 (HPO:0010442) Polydactyly Frequent [IBIS] 24608809; 20472660; 26082521; 25982971; 22353939 IBIS 69 / 7739
9
 (HPO:0100259) Postaxial polydactyly Frequent [IBIS] 10973238 IBIS 85 / 7739
10
 (HPO:0000077) Abnormality of the kidney Frequent [IBIS] 26082521; 22353939; 10973251 IBIS 73 / 7739
11
 (HPO:0012210) Abnormal renal morphology Frequent [IBIS] 10973238; 20472660; 25982971 IBIS 18 / 7739
12
 (HPO:0000505) Visual impairment 25982971 IBIS 297 / 7739
13
 (HPO:0001631) Atria septal defect 25982971 IBIS 274 / 7739
14
 (HPO:0003119) Abnormality of lipid metabolism 20472660 IBIS 60 / 7739
15
 (HPO:0001263) Global developmental delay 20472660; 26082521 IBIS 853 / 7739
16
 (HPO:0001270) Motor delay 24608809 IBIS 322 / 7739
17
 (HPO:0001159) Syndactyly 26082521 IBIS 140 / 7739
18
 (HPO:0001392) Abnormality of the liver 20472660 IBIS 28 / 7739
19
 (HPO:0002910) Elevated hepatic transaminases 20472660 IBIS 158 / 7739
20
 (HPO:0001626) Abnormality of the cardiovascular system 26082521 IBIS 73 / 7739
21
 (HPO:0000028) Cryptorchidism 20472660 IBIS 347 / 7739
22
 (HPO:0003241) External genital hypoplasia 24608809 IBIS 25 / 7739
23
 (HPO:0000119) Abnormality of the genitourinary system 26082521 IBIS 34 / 7739
24
 (HPO:0000126) Hydronephrosis 25982971 IBIS 119 / 7739
25
 (HPO:0012211) Abnormal renal physiology 20472660 IBIS 23 / 7739
26
 (HPO:0000819) Diabetes mellitus 10973238 IBIS 131 / 7739
27
 (HPO:0000365) Hearing impairment 20472660 IBIS 539 / 7739

Associated genes:

MKKS;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: