Bardet-Biedl syndrome 5

Alternative Names

  • BBS5

Associated Genes

BBS5 Gene
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

615983

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2q31.1

Description

BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615983.1.1SomaliaUnknownYesNo Retinal dystrophy; Polydactyly; Obesit...NM_152384.3:c.214G>AHomozygousAutosomal, RecessiveHjortshoj et al. 2008 Patient from Family ...
615983.1.2SomaliaUnknownYesNo Retinal dystrophy; Polydactyly; Obes...NM_152384.3:c.214G>AHomozygousAutosomal, RecessiveHjortshoj et al. 2008 Sibling of 615983.1....
615983.1.3SomaliaUnknownYesNo Retinal dystrophy; Polydactyly; Ob...NM_152384.3:c.214G>AHomozygousAutosomal, RecessiveHjortshoj et al. 2008 Sibling of 615983.1....
615983.1.4SomaliaUnknownYesNo Retinal dystrophy; Polydactyly; ...NM_152384.3:c.214G>AHomozygousAutosomal, RecessiveHjortshoj et al. 2008 Sibling of 615983.1....
615983.2.1Saudi ArabiaMaleYesYes Abnormality of the kidney; Obesity; Sh...NM_152384.3:c.425T>AHomozygousAutosomal, RecessiveLi et al. 2004 Patient from Family ...
615983.2.2Saudi ArabiaMaleYesYes Abnormality of the kidney; Obesity; ...NM_152384.3:c.425T>AHomozygousAutosomal, RecessiveLi et al. 2004 Brother of 615983.2....
615983.3United Arab EmiratesMaleNoYes Obesity; Intellectual disability; Rod-co...NM_152384.3:c.158C>THeterozygous, HomozygousAutosomal, RecessiveAbu-Safieh et al. 2012 "BBS-F030-A" in the ...
615983.4Saudi ArabiaUnknownNo Rod-cone dystrophyNM_152384.3:c.952GAA[1]HomozygousAutosomal, RecessivePatel et al. 2016
615983.G.1TunisiaUnknownYes Retinal dystrophy; Abnormality of the k...NM_152384.3:c.123delHomozygousAutosomal, RecessiveSmaoui et al. 2006 2 patients from fami...
615983.G.2Saudi ArabiaFemaleYesYes Obesity; Intellectual disability; Hydron...NM_152384.3:c.966dupHomozygousAutosomal, RecessiveAldahmesh et al. 2014 Four affected member...
615983.G.3Saudi ArabiaUnknownNo Retinal dystrophyNM_152384.3:c.966dupHomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
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