Bardet-Biedl Syndrome 12 (BBS12)

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Disease Ontology 12 DOID:0110134 OMIM® 57 615989 OMIM Phenotypic Series 57 PS209900 MeSH 44 D020788 ICD10 32 Q87.89

MedGen 41 C1859570 SNOMED-CT via HPO 68 258211005 28835009 367506006 386806002 414915002 414916001 44513007 48130008 90708001 more EFO 17 EFO_0009023 UMLS 71 C0752166 C1859570

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 110DefinitionBardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.EpidemiologyIts prevalence in Europe is estimated at between 1/125,000 and 1/175,000.Clinical descriptionThis disorder is characterized by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appear several years after disease onset. Clinical expression is variable but most patients manifest the majority of clinical signs during the disease course. Pigmentary retinopathy is the only constant clinical sign after childhood. BBS may also be associated with several other manifestations including diabetes, hypertension, congenital cardiopathy and Hirschsprung disease (see this term).EtiologyThe wide clinical spectrum observed in BBS is associated with significant genetic heterogeneity. To date, mutations in 12 different genes (BBS1 to BBS12) have been identified as being responsible for this phenotype. These genes code for proteins involved in the development and function of primary cilia. Absence or dysfunction of BBS proteins results in ciliary anomalies in organs such as the kidney or eye. However, the relationship between symptoms and ciliary dysfunction remains obscure for some of the clinical manifestations of BBS.Diagnostic methodsRecognition of the clinical picture is important as the diagnosis can be confirmed by molecular analysis, allowing appropriate genetic counseling for family members and possible prenatal diagnosis.Differential diagnosisThe differential diagnosis should include the Alstrom, McKusick-Kaufmann and Meckel-Gruber syndromes (see these terms).Genetic counselingThe disorder is transmitted mainly in an autosomal recessive manner but oligogenic inheritance has been reported in some cases.Management and treatmentPatients with BBS will need multidisciplinary medical care.PrognosisThe renal abnormalities are the main life-threatening manifestations because they can lead to end-stage renal failure and require renal transplantation. Progressive vision loss due to retinal dystrophy, together with moderate intellectual deficit (when present), behavioral anomalies, hypomimia and obesity will affect the social life of these patients.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bardet-Biedl Syndrome 12, also known as bbs12, is related to bardet-biedl syndrome 1 and bardet-biedl syndrome. An important gene associated with Bardet-Biedl Syndrome 12 is BBS12 (Bardet-Biedl Syndrome 12). The drugs Anesthetics and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and kidney, and related phenotypes are abnormality of the kidney and cognitive impairment

Disease Ontology : ¹² A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27.

OMIM® : ⁵⁷ BBS12 is a clinically pleiotropic autosomal recessive ciliopathy. The patients with BBS12 studied by Stoetzel et al. (2007) and Harville et al. (2010) met the diagnostic criteria of Beales et al. (1999), which required the presence of either 4 primary features, including rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism (in males), and/or renal anomalies; or 3 primary plus 2 secondary features (e.g., developmental delay, ataxia, cataracts). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615989) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ Bardet-Biedl syndrome 12: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

Clinical features from OMIM®:

615989 (Updated 05-Mar-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-117	9.32	MCTP2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-162	9.32	MCTP2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-181	9.32	PGAP1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-205	9.32	MCTP2 PGAP1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.32	PGAP1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-46	9.32	MCTP2
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.32	PGAP1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-65	9.32	PGAP1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-96	9.32	MCTP2

Search NIH Clinical Center for Bardet-Biedl Syndrome 12

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 12.