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BBS
MCID: BRD010
MIFTS: 59

Bardet-Biedl Syndrome 1 (BBS)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Bardet-Biedl Syndrome 1

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MalaCards integrated aliases for Bardet-Biedl Syndrome 1:

Name: Bardet-Biedl Syndrome 1 58 12 54 76 30 13 6 15 17 74
Bbs1 58 12 54 76
Bardet-Biedl Syndrome 54 76 74
Bardet-Biedl Syndrome 1, Modifier of 58 6
Bardet-Biedl Syndrome, Type 1 77 41
Bbs 54 76
Laurence-Moon-Bardet-Biedl Syndrome 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
presence of 4 major features or 3 major and 2 minor features establishes the diagnosis
clinical manifestation of some forms of bardet-biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance


HPO:

33
bardet-biedl syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Eye diseases Gastrointestinal diseases Reproductive diseases Nephrological diseases Endocrine diseases Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)


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Summaries for Bardet-Biedl Syndrome 1

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NIH Rare Diseases : 54 Bardet-Biedl syndrome(BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties.Mutations in many genes are known to cause Bardet-Biedl syndrome and inheritance is usually autosomal recessive. Treatment depends on the symptoms present in each person.

MalaCards based summary : Bardet-Biedl Syndrome 1, also known as bbs1, is related to bardet-biedl syndrome 16 and nonsyndromic retinitis pigmentosa, and has symptoms including ataxia An important gene associated with Bardet-Biedl Syndrome 1 is BBS1 (Bardet-Biedl Syndrome 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Hormone Antagonists and Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and prostate, and related phenotypes are aganglionic megacolon and macrocephaly

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.

OMIM : 58 Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). (209900)

UniProtKB/Swiss-Prot : 76 Bardet-Biedl syndrome: 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.

Wikipedia : 77 Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

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Related Diseases for Bardet-Biedl Syndrome 1

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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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 322)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 16 32.8 BBS1 CCDC28B
2 nonsyndromic retinitis pigmentosa 32.5 BBS1 BBS2
3 bardet-biedl syndrome 4 32.5 BBS1 BBS2 BBS4
4 bardet-biedl syndrome 14 32.2 BBS1 BBS10 BBS2 BBS9
5 bardet-biedl syndrome 6 31.8 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
6 bardet-biedl syndrome 13 31.8 BBS1 BBS10 BBS2 BBS4 CCDC28B
7 alstrom syndrome 31.7 BBS1 BBS2 LEP
8 bardet-biedl syndrome 18 31.6 BBIP1 BBS1 BBS2 BBS4 BBS7
9 bardet-biedl syndrome 19 31.6 BBS10 BBS2
10 bardet-biedl syndrome 3 31.5 ARL6 BBS1 BBS2 BBS4 BBS7 BBS9
11 bardet-biedl syndrome 8 31.4 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS7
12 bardet-biedl syndrome 17 31.3 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
13 retinitis pigmentosa 31.2 ARL6 BBS1 BBS10 BBS2 BBS4 MKKS
14 bardet-biedl syndrome 15 31.2 BBS2 BBS4 MKKS
15 mckusick-kaufman syndrome 31.0 BBS1 BBS2 BBS4 BBS7 MKKS
16 polydactyly 31.0 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
17 fundus dystrophy 30.9 BBS1 BBS10 BBS2 BBS4 MKKS
18 body mass index quantitative trait locus 11 30.7 BBS1 BBS2 BBS4 LEP MKKS
19 tetralogy of fallot 30.7 BBS4 BBS7 MKKS
20 bardet-biedl syndrome 26.4 ARL6 BBIP1 BBS1 BBS10 BBS2 BBS4
21 laurence-moon syndrome 11.9
22 vaginal atresia 11.7
23 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.5
24 nephronophthisis 7 11.5
25 biemond syndrome 11.4
26 bardet-biedl syndrome 7 11.3
27 bardet-biedl syndrome 9 11.3
28 nijmegen breakage syndrome 11.1
29 bardet-biedl syndrome 5 11.0
30 bardet-biedl syndrome 20 11.0
31 bardet-biedl syndrome 21 11.0
32 meckel syndrome, type 1 11.0
33 physical disorder 11.0
34 bardet-biedl syndrome 2 10.6
35 bardet-biedl syndrome 10 10.6
36 bardet-biedl syndrome 11 10.6
37 bardet-biedl syndrome 12 10.6
38 situs inversus 10.5
39 diabetes mellitus 10.5
40 end stage renal failure 10.5
41 kidney disease 10.5
42 retinal degeneration 10.5
43 hirschsprung disease 1 10.3
44 polydactyly, postaxial, type a1 10.3
45 cone-rod dystrophy 16 10.3
46 chronic kidney failure 10.3
47 pathologic nystagmus 10.3
48 tropical calcific pancreatitis 10.3
49 diabetes mellitus, insulin-dependent 10.3
50 lymphopenia 10.3

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 1:



Diseases related to Bardet-Biedl Syndrome 1
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Symptoms & Phenotypes for Bardet-Biedl Syndrome 1

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Human phenotypes related to Bardet-Biedl Syndrome 1:

33 (show all 47)
# Description HPO Frequency HPO Source Accession
1 aganglionic megacolon 33 occasional (7.5%) HP:0002251
2 macrocephaly 33 HP:0000256
3 obesity 33 HP:0001513
4 high palate 33 HP:0000218
5 nystagmus 33 HP:0000639
6 diabetes mellitus 33 HP:0000819
7 hypertension 33 HP:0000822
8 intellectual disability 33 HP:0001249
9 ataxia 33 HP:0001251
10 neurological speech impairment 33 HP:0002167
11 hearing impairment 33 HP:0000365
12 cataract 33 HP:0000518
13 global developmental delay 33 HP:0001263
14 delayed speech and language development 33 HP:0000750
15 nephrogenic diabetes insipidus 33 HP:0009806
16 strabismus 33 HP:0000486
17 short foot 33 HP:0001773
18 abnormality of the ovary 33 HP:0000137
19 specific learning disability 33 HP:0001328
20 high, narrow palate 33 HP:0002705
21 myopia 33 HP:0000545
22 hepatic fibrosis 33 HP:0001395
23 gait imbalance 33 HP:0002141
24 hypogonadism 33 HP:0000135
25 decreased testicular size 33 HP:0008734
26 left ventricular hypertrophy 33 HP:0001712
27 abnormality of the kidney 33 HP:0000077
28 glaucoma 33 HP:0000501
29 biliary tract abnormality 33 HP:0001080
30 dental crowding 33 HP:0000678
31 brachydactyly 33 HP:0001156
32 foot polydactyly 33 HP:0001829
33 asthma 33 HP:0002099
34 hypodontia 33 HP:0000668
35 rod-cone dystrophy 33 HP:0000510
36 postaxial hand polydactyly 33 HP:0001162
37 astigmatism 33 HP:0000483
38 micropenis 33 HP:0000054
39 poor coordination 33 HP:0002370
40 broad foot 33 HP:0001769
41 retinal dystrophy 33 HP:0000556
42 radial deviation of finger 33 HP:0009466
43 hirsutism 33 HP:0001007
44 syndactyly 33 HP:0001159
45 retinal degeneration 33 HP:0000546
46 vaginal atresia 33 HP:0000148
47 allergy 33 HP:0012393

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Head And Neck Eyes:
strabismus
retinal degeneration
cataracts
retinitis pigmentosa
rod-cone dystrophy, onset by end of 2nd decade (major)

Skeletal Hands:
brachydactyly
polydactyly, usually postaxial (major)

Abdomen Gastrointestinal:
hirschsprung disease (rare)

Genitourinary External Genitalia Male:
hypogonadism (major)
hypogenitalism

Skeletal Feet:
polydactyly (major)

Neurologic Central Nervous System:
ataxia
poor coordination
developmental delay
mental retardation
speech delay
more
Head And Neck Teeth:
dental crowding
hypodontia
small tooth roots

Head And Neck Mouth:
high arched palate

Abdomen Liver:
hepatic fibrosis (rare)

Genitourinary Kidneys:
renal anomalies (major)

Clinical features from OMIM:

209900

UMLS symptoms related to Bardet-Biedl Syndrome 1:


ataxia

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 1:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 ARL6 BBIP1 BBS1 BBS10 BBS2 BBS4
2 cellular MP:0005384 10.16 ARL6 BBS1 BBS10 BBS2 BBS4 BBS7
3 behavior/neurological MP:0005386 10.13 ARL6 BBIP1 BBS1 BBS10 BBS2 BBS4
4 adipose tissue MP:0005375 10.1 ARL6 BBS1 BBS10 BBS2 BBS4 BBS9
5 nervous system MP:0003631 10.06 ARL6 BBIP1 BBS1 BBS10 BBS2 BBS4
6 craniofacial MP:0005382 9.98 ARL6 BBS1 BBS4 BBS7 EHD1 KIF7
7 limbs/digits/tail MP:0005371 9.91 BBS1 BBS2 BBS7 BBS9 KIF7 LEP
8 reproductive system MP:0005389 9.85 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS7
9 renal/urinary system MP:0005367 9.73 BBS1 BBS10 BBS2 BBS4 BBS7 LEP
10 vision/eye MP:0005391 9.4 ARL6 BBIP1 BBS1 BBS10 BBS2 BBS4
11 taste/olfaction MP:0005394 9.35 BBS1 BBS2 BBS4 BBS7 MKKS
Sources

Drugs & Therapeutics for Bardet-Biedl Syndrome 1

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Drugs for Bardet-Biedl Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 3,Phase 2
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
3 Hormones Phase 3,Phase 2
4 alpha-MSH Phase 3,Phase 2 581-05-5
5 Liver Extracts
6 Insulin, Globin Zinc
7 insulin

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
2 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
3 Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement Withdrawn NCT03490019 Phase 2 Metformin
4 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
5 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
6 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
7 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989
8 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
9 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
10 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
11 Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Terminated NCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome 1

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Genetic Tests for Bardet-Biedl Syndrome 1

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Genetic tests related to Bardet-Biedl Syndrome 1:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 1 30 BBS1 CCDC28B
Sources

Anatomical Context for Bardet-Biedl Syndrome 1

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MalaCards organs/tissues related to Bardet-Biedl Syndrome 1:

42
Kidney, Heart, Prostate, Liver, Bone, Lung, Ovary
Sources

Publications for Bardet-Biedl Syndrome 1

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Articles related to Bardet-Biedl Syndrome 1:

(show all 33)
# Title Authors Year
1
Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. ( 30142598 )
2018
2
BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex. ( 29590217 )
2018
3
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. ( 26518167 )
2015
4
Computational genomic analysis of PARK7 interactome reveals high BBS1 gene expression as a prognostic factor favoring survival in malignant pleural mesothelioma. ( 26254420 )
2015
5
Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness. ( 26022370 )
2015
6
Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes. ( 24611592 )
2014
7
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. ( 25494902 )
2014
8
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome. ( 23559858 )
2013
9
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. ( 23847139 )
2013
10
The Leishmania major BBSome subunit BBS1 is essential for parasite virulence in the mammalian host. ( 23998526 )
2013
11
A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish. ( 24069149 )
2013
12
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. ( 23143442 )
2012
13
Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. ( 22940089 )
2012
14
A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands. ( 18669544 )
2009
15
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. ( 18766993 )
2008
16
Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. ( 17980398 )
2008
17
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. ( 18032602 )
2007
18
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. ( 16327777 )
2006
19
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. ( 17065520 )
2006
20
Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval. ( 15517396 )
2005
21
Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population. ( 14993910 )
2004
22
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. ( 15314642 )
2004
23
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). ( 12524598 )
2003
24
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. ( 12567324 )
2003
25
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. ( 12677556 )
2003
26
The major gene for Bardet-Biedl syndrome is BBS1. ( 12789578 )
2003
27
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. ( 12837689 )
2003
28
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. ( 12118255 )
2002
29
Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1). ( 10564830 )
1999
30
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. ( 10577921 )
1999
31
A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. ( 10577922 )
1999
32
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. ( 9714014 )
1998
33
A transcript map of an 800-kb region on human chromosome 11q13, part of the candidate region for SCA5 and BBS1. ( 9921902 )
1998
Sources

Variations for Bardet-Biedl Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 1:

76 (show all 15)
# Symbol AA change Variation ID SNP ID
1 BBS1 p.Glu234Lys VAR_017215 rs35520756
2 BBS1 p.Met390Arg VAR_017216 rs113624356
3 BBS1 p.Leu518Pro VAR_017217 rs121917778
4 BBS1 p.His35Arg VAR_038880 rs775990952
5 BBS1 p.Lys53Glu VAR_038881 rs766602837
6 BBS1 p.Asp148Asn VAR_038882 rs200688985
7 BBS1 p.Arg160Gln VAR_038883 rs376894444
8 BBS1 p.Gly305Ser VAR_038884 rs942862410
9 BBS1 p.Tyr434Ser VAR_038886
10 BBS1 p.Leu503His VAR_038887 rs778225393
11 BBS1 p.Leu518Gln VAR_038888
12 BBS1 p.Ile330Thr VAR_066278
13 KIF7 p.Arg641Gly VAR_066451 rs137905815
14 KIF7 p.Gln994Arg VAR_066455 rs138410949
15 KIF7 p.Arg1068Trp VAR_066456 rs147191956

ClinVar genetic disease variations for Bardet-Biedl Syndrome 1:

6 (show top 50) (show all 251)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC28B NM_024296.4(CCDC28B): c.330C> T (p.Phe110=) single nucleotide variant risk factor rs41263993 GRCh37 Chromosome 1, 32669645: 32669645
2 CCDC28B NM_024296.4(CCDC28B): c.330C> T (p.Phe110=) single nucleotide variant risk factor rs41263993 GRCh38 Chromosome 1, 32204044: 32204044
3 BBS10 NM_024685.4(BBS10): c.271dup (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh38 Chromosome 12, 76347714: 76347714
4 BBS10 NM_024685.4(BBS10): c.271dup (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh37 Chromosome 12, 76741494: 76741494
5 ARL6 NM_032146.5(ARL6): c.506G> C (p.Gly169Ala) single nucleotide variant Pathogenic,risk factor rs104893679 GRCh37 Chromosome 3, 97510641: 97510641
6 ARL6 NM_032146.5(ARL6): c.506G> C (p.Gly169Ala) single nucleotide variant Pathogenic,risk factor rs104893679 GRCh38 Chromosome 3, 97791797: 97791797
7 BBS9 NM_198428.2(BBS9): c.1877_1880delAACA (p.Lys626Argfs) deletion Pathogenic rs606231137 GRCh38 Chromosome 7, 33383753: 33383756
8 BBS9 NM_198428.2(BBS9): c.1877_1880delAACA (p.Lys626Argfs) deletion Pathogenic rs606231137 GRCh37 Chromosome 7, 33423365: 33423368
9 MKKS NM_170784.2(MKKS): c.973A> C (p.Thr325Pro) single nucleotide variant risk factor rs137853156 GRCh37 Chromosome 20, 10393190: 10393190
10 MKKS NM_170784.2(MKKS): c.973A> C (p.Thr325Pro) single nucleotide variant risk factor rs137853156 GRCh38 Chromosome 20, 10412542: 10412542
11 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
12 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh38 Chromosome 11, 66526181: 66526181
13 BBS1 NM_024649.4(BBS1): c.1645G> T (p.Glu549Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917777 GRCh37 Chromosome 11, 66299163: 66299163
14 BBS1 NM_024649.4(BBS1): c.1645G> T (p.Glu549Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917777 GRCh38 Chromosome 11, 66531692: 66531692
15 BBS1 NM_024649.4(BBS1): c.432+1G> A single nucleotide variant Likely pathogenic rs587777829 GRCh38 Chromosome 11, 66514679: 66514679
16 BBS1 NM_024649.4(BBS1): c.432+1G> A single nucleotide variant Likely pathogenic rs587777829 GRCh37 Chromosome 11, 66282150: 66282150
17 BBS1 NM_024649.4(BBS1): c.851delA (p.Tyr284Serfs) deletion Pathogenic rs587777830 GRCh38 Chromosome 11, 66523476: 66523476
18 BBS1 NM_024649.4(BBS1): c.851delA (p.Tyr284Serfs) deletion Pathogenic rs587777830 GRCh37 Chromosome 11, 66290947: 66290947
19 BBS1 NM_024649.4(BBS1): c.1553T> C (p.Leu518Pro) single nucleotide variant Uncertain significance rs121917778 GRCh37 Chromosome 11, 66298444: 66298444
20 BBS1 NM_024649.4(BBS1): c.1553T> C (p.Leu518Pro) single nucleotide variant Uncertain significance rs121917778 GRCh38 Chromosome 11, 66530973: 66530973
21 BBS1 BBS1, 1-BP DEL, 1650C deletion Pathogenic
22 BBS4 NM_033028.4(BBS4): c.1061T> C (p.Ile354Thr) single nucleotide variant Benign rs2277598 GRCh37 Chromosome 15, 73027478: 73027478
23 BBS4 NM_033028.4(BBS4): c.1061T> C (p.Ile354Thr) single nucleotide variant Benign rs2277598 GRCh38 Chromosome 15, 72735137: 72735137
24 BBS10 NM_024685.4(BBS10): c.424G> A (p.Asp142Asn) single nucleotide variant Benign/Likely benign rs142863601 GRCh37 Chromosome 12, 76741341: 76741341
25 BBS10 NM_024685.4(BBS10): c.424G> A (p.Asp142Asn) single nucleotide variant Benign/Likely benign rs142863601 GRCh38 Chromosome 12, 76347561: 76347561
26 BBS2 NM_031885.3(BBS2): c.612+12C> A single nucleotide variant Benign/Likely benign rs77019529 GRCh37 Chromosome 16, 56543857: 56543857
27 BBS2 NM_031885.3(BBS2): c.612+12C> A single nucleotide variant Benign/Likely benign rs77019529 GRCh38 Chromosome 16, 56509945: 56509945
28 WDPCP NM_015910.6(WDPCP): c.1915+13G> A single nucleotide variant Benign rs992214 GRCh37 Chromosome 2, 63486429: 63486429
29 WDPCP NM_015910.6(WDPCP): c.1915+13G> A single nucleotide variant Benign rs992214 GRCh38 Chromosome 2, 63259294: 63259294
30 BBS1 NM_024649.4(BBS1): c.724-8G> C single nucleotide variant Benign rs10896125 GRCh37 Chromosome 11, 66288733: 66288733
31 BBS1 NM_024649.4(BBS1): c.724-8G> C single nucleotide variant Benign rs10896125 GRCh38 Chromosome 11, 66521262: 66521262
32 BBS2 NM_031885.3(BBS2): c.1413A> C (p.Val471=) single nucleotide variant Benign/Likely benign rs35294865 GRCh37 Chromosome 16, 56533804: 56533804
33 BBS2 NM_031885.3(BBS2): c.1413A> C (p.Val471=) single nucleotide variant Benign/Likely benign rs35294865 GRCh38 Chromosome 16, 56499892: 56499892
34 BBS12 NM_152618.2(BBS12): c.116T> C (p.Ile39Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138036823 GRCh37 Chromosome 4, 123663163: 123663163
35 BBS12 NM_152618.2(BBS12): c.116T> C (p.Ile39Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138036823 GRCh38 Chromosome 4, 122742008: 122742008
36 BBS9 NM_198428.2(BBS9): c.1246G> A (p.Val416Met) single nucleotide variant Benign/Likely benign rs61764067 GRCh37 Chromosome 7, 33380556: 33380556
37 BBS9 NM_198428.2(BBS9): c.1246G> A (p.Val416Met) single nucleotide variant Benign/Likely benign rs61764067 GRCh38 Chromosome 7, 33340944: 33340944
38 BBS12 NM_001178007.1(BBS12): c.1381A> C (p.Asn461His) single nucleotide variant Benign/Likely benign rs10027479 GRCh37 Chromosome 4, 123664428: 123664428
39 BBS12 NM_001178007.1(BBS12): c.1381A> C (p.Asn461His) single nucleotide variant Benign/Likely benign rs10027479 GRCh38 Chromosome 4, 122743273: 122743273
40 BBS12 NM_001178007.1(BBS12): c.1847G> A (p.Ser616Asn) single nucleotide variant Benign/Likely benign rs28507107 GRCh37 Chromosome 4, 123664894: 123664894
41 BBS12 NM_001178007.1(BBS12): c.1847G> A (p.Ser616Asn) single nucleotide variant Benign/Likely benign rs28507107 GRCh38 Chromosome 4, 122743739: 122743739
42 BBS1 NM_024649.4(BBS1): c.316C> G (p.Leu106Val) single nucleotide variant Uncertain significance rs137853913 GRCh37 Chromosome 11, 66282033: 66282033
43 BBS1 NM_024649.4(BBS1): c.316C> G (p.Leu106Val) single nucleotide variant Uncertain significance rs137853913 GRCh38 Chromosome 11, 66514562: 66514562
44 BBS2 NM_031885.3(BBS2): c.1511C> T (p.Ala504Val) single nucleotide variant Benign/Likely benign rs16957538 GRCh37 Chromosome 16, 56533706: 56533706
45 BBS2 NM_031885.3(BBS2): c.1511C> T (p.Ala504Val) single nucleotide variant Benign/Likely benign rs16957538 GRCh38 Chromosome 16, 56499794: 56499794
46 BBIP1 NM_001195306.1(BBIP1): c.173T> G (p.Leu58Ter) single nucleotide variant Pathogenic rs515726134 GRCh38 Chromosome 10, 110900466: 110900466
47 BBIP1 NM_001195306.1(BBIP1): c.173T> G (p.Leu58Ter) single nucleotide variant Pathogenic rs515726134 GRCh37 Chromosome 10, 112660224: 112660224
48 LZTFL1 NM_020347.3(LZTFL1): c.260T> C (p.Leu87Pro) single nucleotide variant Pathogenic rs515726135 GRCh37 Chromosome 3, 45877145: 45877145
49 LZTFL1 NM_020347.3(LZTFL1): c.260T> C (p.Leu87Pro) single nucleotide variant Pathogenic rs515726135 GRCh38 Chromosome 3, 45835653: 45835653
50 LZTFL1 NM_020347.3(LZTFL1): c.778G> T (p.Glu260Ter) single nucleotide variant Pathogenic rs515726136 GRCh38 Chromosome 3, 45827459: 45827459
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Expression for Bardet-Biedl Syndrome 1

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Search GEO for disease gene expression data for Bardet-Biedl Syndrome 1.
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Pathways for Bardet-Biedl Syndrome 1

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Pathways related to Bardet-Biedl Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Organelle biogenesis and maintenance 67
Show member pathways
 12.38 ARL6 BBIP1 BBS1 BBS10 BBS2 BBS4
2
Cargo trafficking to the periciliary membrane 67
Show member pathways
 11.35 ARL6 BBIP1 BBS1 BBS10 BBS2 BBS4
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GO Terms for Bardet-Biedl Syndrome 1

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Cellular components related to Bardet-Biedl Syndrome 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.96 ARL6 BBIP1 BBS1 BBS10 BBS2 BBS4
2 microtubule organizing center GO:0005815 9.91 BBS1 BBS2 BBS4 BBS7 BBS9 CCDC28B
3 centrosome GO:0005813 9.83 BBS1 BBS4 BBS7 CCDC28B MKKS
4 ciliary basal body GO:0036064 9.8 BBS1 BBS2 BBS4 BBS7 KIF7 MKKS
5 motile cilium GO:0031514 9.67 BBS2 BBS4 MKKS
6 cilium GO:0005929 9.65 ARL6 BBIP1 BBS1 BBS10 BBS2 BBS4
7 axoneme GO:0005930 9.63 ARL6 BBS1 BBS7
8 ciliary membrane GO:0060170 9.63 BBS1 BBS2 BBS4 BBS7 BBS9 EHD1
9 ciliary transition zone GO:0035869 9.54 BBS4 BBS9
10 centriolar satellite GO:0034451 9.52 BBS4 BBS9
11 pericentriolar material GO:0000242 9.51 BBS4 BBS9
12 BBSome GO:0034464 9.1 BBIP1 BBS1 BBS2 BBS4 BBS7 BBS9
13 cytoplasm GO:0005737 10.26 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS7
14 cytoskeleton GO:0005856 10.06 ARL6 BBS1 BBS2 BBS4 BBS7 BBS9

Biological processes related to Bardet-Biedl Syndrome 1 according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.88 BBS1 BBS10 BBS2 BBS4 MKKS
2 fat cell differentiation GO:0045444 9.88 ARL6 BBS2 BBS4 BBS7 BBS9 MKKS
3 protein localization to cilium GO:0061512 9.83 ARL6 BBS1 BBS4 BBS9 EHD1
4 protein localization GO:0008104 9.79 BBS2 BBS4 BBS7
5 cerebral cortex development GO:0021987 9.79 BBS2 BBS4 MKKS
6 determination of left/right symmetry GO:0007368 9.78 ARL6 BBS7 MKKS
7 hippocampus development GO:0021766 9.77 BBS2 BBS4 MKKS
8 heart looping GO:0001947 9.77 BBS4 BBS7 MKKS
9 melanosome transport GO:0032402 9.77 ARL6 BBS2 BBS4 BBS7 MKKS
10 retina homeostasis GO:0001895 9.76 BBS1 BBS10 BBS4
11 leptin-mediated signaling pathway GO:0033210 9.76 BBS2 BBS4 LEP MKKS
12 visual perception GO:0007601 9.76 ARL6 BBS1 BBS10 BBS2 BBS4 BBS7
13 positive regulation of multicellular organism growth GO:0040018 9.75 BBS2 BBS4 MKKS
14 brain morphogenesis GO:0048854 9.73 BBS2 BBS4 MKKS
15 non-motile cilium assembly GO:1905515 9.73 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
16 striatum development GO:0021756 9.72 BBS2 BBS4 MKKS
17 response to leptin GO:0044321 9.71 BBS2 BBS4 MKKS
18 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.7 BBS2 BBS4 MKKS
19 adult behavior GO:0030534 9.66 BBS2 BBS4
20 Golgi to plasma membrane protein transport GO:0043001 9.66 BBS1 BBS2
21 intracellular transport GO:0046907 9.65 BBS4 MKKS
22 vasodilation GO:0042311 9.65 BBS2 MKKS
23 protein localization to organelle GO:0033365 9.65 BBS2 BBS4
24 chaperone-mediated protein complex assembly GO:0051131 9.64 BBS10 MKKS
25 face development GO:0060324 9.64 BBS4 MKKS
26 negative regulation of actin filament polymerization GO:0030837 9.63 BBS4 MKKS
27 regulation of stress fiber assembly GO:0051492 9.63 BBS4 MKKS
28 artery smooth muscle contraction GO:0014824 9.62 BBS2 MKKS
29 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.62 BBS2 BBS4 LEP MKKS
30 cell projection organization GO:0030030 9.61 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS7
31 pigment granule aggregation in cell center GO:0051877 9.57 BBS7 MKKS
32 cilium assembly GO:0060271 9.32 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS7
33 protein transport GO:0015031 10.11 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS7
34 response to stimulus GO:0050896 10.1 ARL6 BBS1 BBS10 BBS2 BBS4 BBS7

Molecular functions related to Bardet-Biedl Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.8 ARL6 BBIP1 BBS1 BBS10 BBS2 BBS4
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.1 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
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Sources for Bardet-Biedl Syndrome 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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