Disorder "Bardet-Biedl Syndrome"
Found 12 records
Disorder information
Disorder name:
Bardet-Biedl Syndrome
Disoder ID:
OMIM entry:
Definition:
An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
Modifier statisitcs
Record:
12
Gene:
6
Variant:
11
Reference:
4
Effect type:
Expressivity(7)
,Pleiotropy(5)
Modifier effect:
Altered severity(5)
,Novel seizure phenotype(5)
,Altered effect of disease causing mutation(1)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| C8orf37 | C8orf37:c.533C>T(p.Ala178Val) | Expressivity | Altered severity | Assessment of genotype–phenotype associations | Modifier alleles for BBSmore | more |
| BBS1 | BBS1:c.1608+2T>C | Expressivity | Altered severity | Pedigree analysis | The presence of three mutant alleles correlates with a more severe phenotype.more | more |