BBS10
MCID: BRD011
MIFTS: 49

Bardet-Biedl Syndrome 10 (BBS10)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Bardet-Biedl Syndrome 10

MalaCards integrated aliases for Bardet-Biedl Syndrome 10:

Name: Bardet-Biedl Syndrome 10 57 12 20 72 29 6 15 17 70
Bbs10 57 12 20 72
Bardet-Biedl Syndrome 20 70
Bardet-Biedl Syndrome, Type 10 39
Bbs 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
severe phenotype


HPO:

31
bardet-biedl syndrome 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110132
OMIM® 57 615987
OMIM Phenotypic Series 57 PS209900
MeSH 44 D020788
ICD10 32 Q87.89
MedGen 41 C1859568
UMLS 70 C0752166 C1859568

Summaries for Bardet-Biedl Syndrome 10

UniProtKB/Swiss-Prot : 72 Bardet-Biedl syndrome 10: 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.

MalaCards based summary : Bardet-Biedl Syndrome 10, also known as bbs10, is related to polydactyly and night blindness, congenital stationary, autosomal dominant 3. An important gene associated with Bardet-Biedl Syndrome 10 is BBS10 (Bardet-Biedl Syndrome 10), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Anesthetics and insulin have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and heart, and related phenotypes are cognitive impairment and renal insufficiency

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21.

OMIM® : 57 BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615987) (Updated 20-May-2021)

Related Diseases for Bardet-Biedl Syndrome 10

Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 3
Bardet-Biedl Syndrome 6 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 5
Bardet-Biedl Syndrome 7 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 9 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 12
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14
Bardet-Biedl Syndrome 15 Bardet-Biedl Syndrome 16
Bardet-Biedl Syndrome 17 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 19 Bardet-Biedl Syndrome 20
Bardet-Biedl Syndrome 21

Diseases related to Bardet-Biedl Syndrome 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 332)
# Related Disease Score Top Affiliating Genes
1 polydactyly 31.5 BBS12 BBS10 BBS1
2 night blindness, congenital stationary, autosomal dominant 3 31.4 BBS12 BBS10
3 retinal disease 31.4 BBS10 BBS1 ALMS1
4 bardet-biedl syndrome 31.3 TMEM216 BBS12 BBS10 BBS1 ALMS1
5 mckusick-kaufman syndrome 31.3 BBS12 BBS10 BBS1
6 bardet-biedl syndrome 15 31.3 BBS12 BBS10 BBS1
7 bardet-biedl syndrome 17 31.2 BBS12 BBS10 BBS1
8 bardet-biedl syndrome 6 31.2 BBS12 BBS10 BBS1 ALMS1
9 bardet-biedl syndrome 18 31.2 BBS12 BBS10 BBS1
10 bardet-biedl syndrome 16 31.2 BBS12 BBS10 BBS1
11 bardet-biedl syndrome 13 31.2 BBS12 BBS10 BBS1
12 alstrom syndrome 31.2 BBS10 BBS1 ALMS1
13 bardet-biedl syndrome 19 31.2 BBS12 BBS10 BBS1
14 bardet-biedl syndrome 8 31.2 BBS12 BBS10 BBS1
15 bardet-biedl syndrome 11 31.2 BBS12 BBS10 BBS1
16 bardet-biedl syndrome 3 31.2 BBS12 BBS10 BBS1
17 cohen syndrome 31.2 BBS10 BBS1 ALMS1
18 borjeson-forssman-lehmann syndrome 31.1 BBS12 BBS10 ALMS1
19 bardet-biedl syndrome 1 31.0 TMEM216 BBS12 BBS10 BBS1 ALMS1
20 bardet-biedl syndrome 14 30.9 TMEM216 BBS12 BBS10 BBS1
21 senior-loken syndrome 1 30.8 TMEM216 BBS12 BBS10 BBS1
22 meckel syndrome, type 1 30.7 TMEM216 BBS12 BBS10 BBS1 ALMS1
23 fundus dystrophy 30.7 TMEM216 BBS12 BBS10 BBS1 ALMS1
24 nephronophthisis 30.5 TMEM216 BBS12 BBS10 BBS1 ALMS1
25 leber plus disease 30.4 TMEM216 BBS12 BBS10 BBS1 ALMS1
26 nephronophthisis 2 29.7 TMEM216 BBS1
27 bardet-biedl syndrome 20 11.8
28 bardet-biedl syndrome 21 11.8
29 laurence-moon syndrome 11.5
30 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.3
31 vaginal atresia 11.3
32 retinitis pigmentosa 11.1
33 short-rib thoracic dysplasia 3 with or without polydactyly 11.0
34 heart disease 11.0
35 retinal degeneration 11.0
36 nijmegen breakage syndrome 11.0
37 cone-rod dystrophy 2 11.0
38 macular degeneration, age-related, 1 11.0
39 cone dystrophy 10.9
40 short-rib thoracic dysplasia 1 with or without polydactyly 10.8
41 short-rib thoracic dysplasia 6 with or without polydactyly 10.8
42 usher syndrome 10.8
43 usher syndrome type 2 10.8
44 sensorineural hearing loss 10.8
45 disease of mental health 10.8
46 chromosome 2q35 duplication syndrome 10.6
47 body mass index quantitative trait locus 11 10.6
48 end stage renal disease 10.6
49 kidney disease 10.6
50 brachydactyly 10.6

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 10:



Diseases related to Bardet-Biedl Syndrome 10

Symptoms & Phenotypes for Bardet-Biedl Syndrome 10

Human phenotypes related to Bardet-Biedl Syndrome 10:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cognitive impairment 31 HP:0100543
2 renal insufficiency 31 HP:0000083
3 obesity 31 HP:0001513
4 rod-cone dystrophy 31 HP:0000510
5 hypogonadism 31 HP:0000135
6 renal cyst 31 HP:0000107
7 polydactyly 31 HP:0010442

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
cognitive impairment

Genitourinary External Genitalia Male:
hypogonadism

Skeletal Hands:
polydactyly

Genitourinary Kidneys:
renal failure
renal anomalies
cystic kidneys (may be observed prenatally)

Growth Weight:
obesity

Head And Neck Eyes:
retinal dystrophy
retinitis pigmentosa

Skeletal Feet:
polydactyly

Abdomen:
situs ambiguus (1 patient)

Clinical features from OMIM®:

615987 (Updated 20-May-2021)

Drugs & Therapeutics for Bardet-Biedl Syndrome 10

Drugs for Bardet-Biedl Syndrome 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics
2 insulin
3 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3 Trial of Setmelanotide (RM-493), a Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Active, not recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
2 Treatment of Infantile and Juvenile Patients With Bardet-Biedl-Syndrome With Metformin. Evaluation of a Visual Improvement as a Side Effect of the Pediatric Treatment of Adipositas - a Prospective Pilot Study Without Control Withdrawn NCT03490019 Phase 2 Metformin
3 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811
4 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
5 COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique Recruiting NCT04461444
6 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
7 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
8 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
9 Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics Terminated NCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome 10

Genetic Tests for Bardet-Biedl Syndrome 10

Genetic tests related to Bardet-Biedl Syndrome 10:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 10 29 BBS10

Anatomical Context for Bardet-Biedl Syndrome 10

MalaCards organs/tissues related to Bardet-Biedl Syndrome 10:

40
Eye, Kidney, Heart, Liver, Retina, Pituitary, Ovary

Publications for Bardet-Biedl Syndrome 10

Articles related to Bardet-Biedl Syndrome 10:

(show top 50) (show all 86)
# Title Authors PMID Year
1
BBS10 mutations are common in 'Meckel'-type cystic kidneys. 61 57 6
20805367 2010
2
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. 61 6 57
16823392 2006
3
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 61 6 57
16582908 2006
4
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 57 6
25982971 2015
5
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. 6 61
27659767 2017
6
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. 6 61
26518167 2015
7
Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. 6 61
24611592 2014
8
Evaluation of visual function and needs in adult patients with bardet-biedl syndrome. 61 6
25170860 2014
9
BBS mutational analysis: a strategic approach. 61 6
21463199 2011
10
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. 61 6
21044901 2011
11
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. 6 61
21209035 2011
12
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 6 61
20876674 2011
13
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 61 6
20472660 2010
14
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 6 61
20120035 2010
15
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 6 61
20177705 2010
16
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 6 61
20080638 2010
17
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. 61 6
17106446 2007
18
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 6
28041643 2017
19
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 6
27959697 2017
20
Characterizing the morbid genome of ciliopathies. 6
27894351 2016
21
Bardet-Biedl Syndrome. 6
27385962 2016
22
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 6
27032803 2016
23
Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. 6
25988237 2016
24
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. 6
24400638 2015
25
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations. 6
25366773 2014
26
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. 6
24746959 2014
27
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. 6
24041679 2014
28
BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. 6
22958920 2012
29
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. 6
22773737 2012
30
In search of triallelism in Bardet-Biedl syndrome. 6
22353939 2012
31
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. 6
21517826 2011
32
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 6
21642631 2011
33
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 6
21344540 2011
34
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. 6
21157496 2011
35
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 6
21052717 2011
36
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 6
20498079 2010
37
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 57
19797195 2010
38
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 57
19252258 2009
39
Bardet-Biedl Syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons. 61
33630762 2021
40
Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome. 61
32700463 2021
41
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey. 61
32686083 2021
42
Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis. 61
33509858 2021
43
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. 61
33572860 2021
44
Construction and analysis of miRNA-mRNA regulatory networks in the radioresistance of nasopharyngeal carcinoma. 61
33184596 2020
45
Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance. 61
33138063 2020
46
Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet-Biedl Syndrome. 61
32954066 2020
47
Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome. 61
32448990 2020
48
Deregulation of Neuro-Developmental Genes and Primary Cilium Cytoskeleton Anomalies in iPSC Retinal Sheets from Human Syndromic Ciliopathies. 61
32160518 2020
49
Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome. 61
31639430 2020
50
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families. 61
30947698 2019

Variations for Bardet-Biedl Syndrome 10

ClinVar genetic disease variations for Bardet-Biedl Syndrome 10:

6 (show top 50) (show all 193)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BBS10 NM_024685.4(BBS10):c.1024dup (p.Ile342fs) Duplication Pathogenic 217439 rs869025210 GRCh37: 12:76740740-76740741
GRCh38: 12:76346960-76346961
2 BBS10 NM_024685.4(BBS10):c.1547del (p.Thr516fs) Deletion Pathogenic 217440 rs869025211 GRCh37: 12:76740218-76740218
GRCh38: 12:76346438-76346438
3 BBS10 NM_024685.4(BBS10):c.1856_1865del (p.Lys619fs) Deletion Pathogenic 217438 rs869025209 GRCh37: 12:76739900-76739909
GRCh38: 12:76346120-76346129
4 BBS10 NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) Deletion Pathogenic 30817 rs587777837 GRCh37: 12:76740720-76740721
GRCh38: 12:76346940-76346941
5 BBS10 NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu) SNV Pathogenic 68063 rs199474722 GRCh37: 12:76740563-76740563
GRCh38: 12:76346783-76346783
6 BBS10 NM_024685.4(BBS10):c.931T>G (p.Ser311Ala) SNV Pathogenic 1331 rs137852837 GRCh37: 12:76740834-76740834
GRCh38: 12:76347054-76347054
7 BBS10 NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter) SNV Pathogenic 371499 rs375413604 GRCh37: 12:76740088-76740088
GRCh38: 12:76346308-76346308
8 BBS10 NM_024685.4(BBS10):c.1138dup (p.Arg380fs) Duplication Pathogenic 434488 rs1555202645 GRCh37: 12:76740626-76740627
GRCh38: 12:76346846-76346847
9 BBS10 NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) SNV Pathogenic 434487 rs898539189 GRCh37: 12:76740270-76740270
GRCh38: 12:76346490-76346490
10 BBS10 NM_024685.4(BBS10):c.687del (p.Val230fs) Deletion Pathogenic 216123 rs761101213 GRCh37: 12:76741078-76741078
GRCh38: 12:76347298-76347298
11 BBS10 NM_024685.4(BBS10):c.118A>T (p.Lys40Ter) SNV Pathogenic 552187 rs202228478 GRCh37: 12:76742021-76742021
GRCh38: 12:76348241-76348241
12 BBS10 NM_024685.4(BBS10):c.235dup (p.Thr79fs) Duplication Pathogenic 554591 rs760693838 GRCh37: 12:76741529-76741530
GRCh38: 12:76347749-76347750
13 BBS10 NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) Deletion Pathogenic 406221 rs775950661 GRCh37: 12:76739645-76739646
GRCh38: 12:76345865-76345866
14 BBS10 NM_024685.4(BBS10):c.1244del (p.His415fs) Deletion Pathogenic 558108 rs760642305 GRCh37: 12:76740521-76740521
GRCh38: 12:76346741-76346741
15 BBS10 NM_024685.4(BBS10):c.1315del (p.Gln439fs) Deletion Pathogenic 802873 rs1592491950 GRCh37: 12:76740450-76740450
GRCh38: 12:76346670-76346670
16 BBS10 NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter) SNV Pathogenic 632669 rs1356713858 GRCh37: 12:76740358-76740358
GRCh38: 12:76346578-76346578
17 BBS10 NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter) SNV Pathogenic 684438 rs768385647 GRCh37: 12:76739894-76739894
GRCh38: 12:76346114-76346114
18 BBS10 NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg) Deletion Pathogenic 986341 GRCh37: 12:76742125-76742130
GRCh38: 12:76348345-76348350
19 BBS10 NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter) SNV Pathogenic 1029918 GRCh37: 12:76740400-76740400
GRCh38: 12:76346620-76346620
20 BBS10 NM_024685.4(BBS10):c.15_16insC (p.Ala6fs) Insertion Pathogenic 1033641 GRCh37: 12:76742123-76742124
GRCh38: 12:76348343-76348344
21 BBS10 NM_024685.4(BBS10):c.271dup (p.Cys91fs) Duplication Pathogenic 1328 rs549625604 GRCh37: 12:76741493-76741494
GRCh38: 12:76347713-76347714
22 BBS10 NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) SNV Pathogenic 30818 rs148374859 GRCh37: 12:76741492-76741492
GRCh38: 12:76347712-76347712
23 BBS10 NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) SNV Pathogenic 225010 rs768933093 GRCh37: 12:76741994-76741994
GRCh38: 12:76348214-76348214
24 BBS10 NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) SNV Pathogenic/Likely pathogenic 551120 rs758732081 GRCh37: 12:76740915-76740915
GRCh38: 12:76347135-76347135
25 BBS10 NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) SNV Pathogenic/Likely pathogenic 560964 rs1565809409 GRCh37: 12:76739998-76739998
GRCh38: 12:76346218-76346218
26 BBS10 NM_024685.4(BBS10):c.1091del (p.Asn364fs) Deletion Pathogenic/Likely pathogenic 166723 rs727503818 GRCh37: 12:76740674-76740674
GRCh38: 12:76346894-76346894
27 BBS10 NM_024685.4(BBS10):c.728_731del (p.Lys243fs) Deletion Likely pathogenic 189071 rs786204671 GRCh37: 12:76741034-76741037
GRCh38: 12:76347254-76347257
28 BBS10 NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) SNV Likely pathogenic 522272 rs1460517643 GRCh37: 12:76741975-76741975
GRCh38: 12:76348195-76348195
29 BBS10 NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) Deletion Likely pathogenic 975077 GRCh37: 12:76740427-76740428
GRCh38: 12:76346647-76346648
30 BBS10 NM_024685.4(BBS10):c.83_84delinsAG (p.Cys28Ter) Indel Likely pathogenic 432908 rs1555202801 GRCh37: 12:76742055-76742056
GRCh38: 12:76348275-76348276
31 BBS10 NM_024685.4(BBS10):c.197+1G>T SNV Likely pathogenic 283884 rs886042729 GRCh37: 12:76741941-76741941
GRCh38: 12:76348161-76348161
32 BBS10 NM_024685.4(BBS10):c.909_912del (p.Ser303fs) Deletion Likely pathogenic 432013 rs780059308 GRCh37: 12:76740853-76740856
GRCh38: 12:76347073-76347076
33 BBS10 NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) Deletion Likely pathogenic 496471 rs1555202584 GRCh37: 12:76740088-76740088
GRCh38: 12:76346308-76346308
34 BBS10 NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter) SNV Likely pathogenic 551437 rs1555202572 GRCh37: 12:76739936-76739936
GRCh38: 12:76346156-76346156
35 BBS10 NM_024685.4(BBS10):c.1408del (p.Gln470fs) Deletion Likely pathogenic 558606 rs1555202614 GRCh37: 12:76740357-76740357
GRCh38: 12:76346577-76346577
36 BBS10 NM_024685.4(BBS10):c.198-1G>C SNV Likely pathogenic 556578 rs1555202740 GRCh37: 12:76741568-76741568
GRCh38: 12:76347788-76347788
37 BBS10 NM_024685.4(BBS10):c.130G>T (p.Glu44Ter) SNV Likely pathogenic 556792 rs1310735399 GRCh37: 12:76742009-76742009
GRCh38: 12:76348229-76348229
38 BBS10 NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter) SNV Likely pathogenic 556833 rs1555202583 GRCh37: 12:76740078-76740078
GRCh38: 12:76346298-76346298
39 BBS10 NM_024685.4(BBS10):c.1447dup (p.Thr483fs) Duplication Likely pathogenic 556979 rs759185809 GRCh37: 12:76740317-76740318
GRCh38: 12:76346537-76346538
40 BBS10 NM_024685.4(BBS10):c.534_535del (p.Phe178fs) Deletion Likely pathogenic 557983 rs1555202698 GRCh37: 12:76741230-76741231
GRCh38: 12:76347450-76347451
41 BBS10 NM_024685.4(BBS10):c.784_785del (p.Glu262fs) Deletion Likely pathogenic 550936 rs1555202681 GRCh37: 12:76740980-76740981
GRCh38: 12:76347200-76347201
42 BBS10 NM_024685.4(BBS10):c.1122dup (p.Ile375fs) Duplication Likely pathogenic 556154 rs753604828 GRCh37: 12:76740642-76740643
GRCh38: 12:76346862-76346863
43 BBS10 NM_024685.4(BBS10):c.955_958GTTA[1] (p.Ser320fs) Microsatellite Likely pathogenic 266102 rs758522600 GRCh37: 12:76740803-76740806
GRCh38: 12:76347023-76347026
44 BBS10 NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter) Insertion Likely pathogenic 554851 rs1555202657 GRCh37: 12:76740764-76740765
GRCh38: 12:76346984-76346985
45 BBS10 NM_024685.4(BBS10):c.320del (p.Pro107fs) Deletion Likely pathogenic 555301 rs1555202731 GRCh37: 12:76741445-76741445
GRCh38: 12:76347665-76347665
46 BBS10 NM_024685.4(BBS10):c.2030del (p.Gly677fs) Deletion Likely pathogenic 423236 rs1064796315 GRCh37: 12:76739735-76739735
GRCh38: 12:76345955-76345955
47 BBS10 NM_024685.4(BBS10):c.1338del (p.Phe446fs) Deletion Likely pathogenic 552465 rs1389599028 GRCh37: 12:76740427-76740427
GRCh38: 12:76346647-76346647
48 BBS10 NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) SNV Likely pathogenic 551609 rs1156913215 GRCh37: 12:76740999-76740999
GRCh38: 12:76347219-76347219
49 BBS10 NM_024685.4(BBS10):c.1143_1147dup (p.His383fs) Duplication Likely pathogenic 551765 rs1555202642 GRCh37: 12:76740617-76740618
GRCh38: 12:76346837-76346838
50 BBS10 NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter) SNV Likely pathogenic 551976 rs1555202546 GRCh37: 12:76739688-76739688
GRCh38: 12:76345908-76345908

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 10:

72 (show all 24)
# Symbol AA change Variation ID SNP ID
1 BBS10 p.Arg34Pro VAR_026391 rs137852836
2 BBS10 p.Arg49Trp VAR_026392 rs768933093
3 BBS10 p.Cys91Trp VAR_026393 rs148374859
4 BBS10 p.Leu170Ser VAR_026394 rs780916348
5 BBS10 p.Cys195Trp VAR_026395
6 BBS10 p.Tyr197Cys VAR_026396 rs756632517
7 BBS10 p.Val240Gly VAR_026397
8 BBS10 p.Leu308Phe VAR_026398
9 BBS10 p.Ser311Ala VAR_026399 rs137852837
10 BBS10 p.Ser329Leu VAR_026400 rs100099013
11 BBS10 p.Pro363Leu VAR_026401 rs938066133
12 BBS10 p.Leu414Ser VAR_026403 rs786204575
13 BBS10 p.Lys579Arg VAR_026404 rs141521925
14 BBS10 p.Tyr613Cys VAR_026405 rs575957641
15 BBS10 p.Tyr613His VAR_026406 rs141647931
16 BBS10 p.Gly677Val VAR_026407 rs155520255
17 BBS10 p.Thr689Pro VAR_026408 rs759387000
18 BBS10 p.Leu55Pro VAR_066252 rs146051764
19 BBS10 p.Lys188Thr VAR_066254
20 BBS10 p.His410Gln VAR_066257 rs144755505
21 BBS10 p.Leu600Ser VAR_066258
22 BBS10 p.Ala636Val VAR_066259 rs113224628
23 BBS10 p.Leu687Pro VAR_066260
24 BBS10 p.Val11Gly VAR_075722 rs137852838

Expression for Bardet-Biedl Syndrome 10

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 10.

Pathways for Bardet-Biedl Syndrome 10

Pathways related to Bardet-Biedl Syndrome 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 TMEM216 BBS12 BBS10 BBS1 ALMS1
2
Show member pathways
11.16 BBS12 BBS10 BBS1

GO Terms for Bardet-Biedl Syndrome 10

Cellular components related to Bardet-Biedl Syndrome 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.55 TUBA1B TMEM216 KLHL42 BBS1 ALMS1
2 cell projection GO:0042995 9.35 TMEM216 BBS12 BBS10 BBS1 ALMS1
3 cilium GO:0005929 9.02 TMEM216 BBS12 BBS10 BBS1 ALMS1

Biological processes related to Bardet-Biedl Syndrome 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.56 KLHL42 FBXW5 FBXL15 ANAPC2
2 protein polyubiquitination GO:0000209 9.5 KLHL42 FBXW5 FBXL15
3 chaperone-mediated protein complex assembly GO:0051131 9.16 BBS12 BBS10
4 non-motile cilium assembly GO:1905515 9.13 TMEM216 BBS10 BBS1
5 photoreceptor cell maintenance GO:0045494 8.8 BBS12 BBS10 BBS1

Molecular functions related to Bardet-Biedl Syndrome 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 8.62 BBS10 BBS1

Sources for Bardet-Biedl Syndrome 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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