BBS1
MCID: BRD010
MIFTS: 64

Bardet-Biedl Syndrome 1 (BBS1)

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 1

MalaCards integrated aliases for Bardet-Biedl Syndrome 1:

Name: Bardet-Biedl Syndrome 1 57 12 20 73 29 13 6 15 17 71
Bbs1 57 12 20 73
Bardet-Biedl Syndrome 1, Modifier of 57 29 6
Bardet-Biedl Syndrome 20 73 71
Bardet-Biedl Syndrome, Type 1 74 39
Bbs 20 73
Laurence-Moon-Bardet-Biedl Syndrome 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
bardet-biedl syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 1

UniProtKB/Swiss-Prot : 73 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.
Bardet-Biedl syndrome 1: 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 1, also known as bbs1, is related to bardet-biedl syndrome 10 and usher syndrome, 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 Anesthetics and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and retina, 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.

GARD : 20 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.

OMIM® : 57 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) (Updated 05-Mar-2021)

Wikipedia : 74 Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

Related Diseases for Bardet-Biedl Syndrome 1

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 341)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 10 32.5 BBS12 BBS10 BBS1
2 usher syndrome 32.3 TTC8 BBS2 BBS10 BBS1
3 bardet-biedl syndrome 12 32.3 WDPCP BBS12
4 ciliopathy 32.2 SDCCAG8 BBS7 BBS1
5 bardet-biedl syndrome 15 32.2 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
6 bardet-biedl syndrome 3 32.2 TTC8 MKKS LZTFL1 IFT27 BBS9 BBS7
7 bardet-biedl syndrome 19 32.1 WDPCP LZTFL1 IFT27 BBS9 BBS7 BBS5
8 bardet-biedl syndrome 13 32.1 WDPCP TTC8 MKKS BBS9 BBS7 BBS5
9 tetralogy of fallot 32.1 MKKS BBS7 BBS4 BBS2 BBS1
10 polycystic kidney disease 32.1 TTC8 MKKS BBS5 BBS4 BBS1 ARL6
11 bardet-biedl syndrome 18 32.0 WDPCP TTC8 LZTFL1 IFT27 BBS9 BBS7
12 bardet-biedl syndrome 17 32.0 WDPCP TTC8 LZTFL1 IFT27 BBS9 BBS7
13 bardet-biedl syndrome 8 32.0 TTC8 MKKS LZTFL1 IFT27 BBS9 BBS7
14 body mass index quantitative trait locus 11 32.0 TTC8 MKKS BBS4 BBS2 BBS1 BBIP1
15 mckusick-kaufman syndrome 32.0 TTC8 MKKS BBS9 BBS7 BBS5 BBS4
16 nonsyndromic retinitis pigmentosa 32.0 TTC8 BBS2 BBS1
17 cystic kidney disease 32.0 NPHP1 BBS4 BBS1
18 cone-rod dystrophy 2 31.9 CEP19 BBS9 BBS7 BBS4 BBS2 BBS12
19 joubert syndrome 1 31.9 SDCCAG8 NPHP1 IFT27 CEP19 BBS5 BBS4
20 bardet-biedl syndrome 9 31.9 TTC8 BBS9
21 physical disorder 31.9 BBS4 BBS2 BBS1
22 cone dystrophy 31.9 MKKS BBS7 BBS5 BBS2 BBS10 BBS1
23 nephronophthisis 2 31.9 SDCCAG8 NPHP1 BBS4 BBS1
24 bardet-biedl syndrome 16 31.9 WDPCP TTC8 SDCCAG8 MKKS LZTFL1 IFT27
25 bardet-biedl syndrome 14 31.9 WDPCP TTC8 SDCCAG8 MKKS LZTFL1 IFT27
26 polycystic kidney disease 4 with or without polycystic liver disease 31.9 NPHP1 BBS4 BBS1
27 cranioectodermal dysplasia 31.9 NPHP1 IFT27 BBS9 BBS1
28 usher syndrome type 2 31.9 NPHP1 BBS9 BBS5 BBS10 BBS1
29 bardet-biedl syndrome 11 31.9 WDPCP TTC8 SDCCAG8 MKKS LZTFL1 IFT27
30 asphyxiating thoracic dystrophy 31.8 WDPCP SDCCAG8 NPHP1 LZTFL1 IFT27 BBS7
31 alstrom syndrome 31.8 BBS9 BBS7 BBS5 BBS4 BBS2 BBS10
32 visceral heterotaxy 31.8 NPHP1 IFT27 BBS7 BBS4 BBS2 BBS1
33 kartagener syndrome 31.8 SDCCAG8 NPHP1 IFT27 BBS4 BBS1
34 fundus dystrophy 31.8 TTC8 SDCCAG8 NPHP1 MKKS IFT27 CCDC28B
35 senior-loken syndrome 1 31.8 SDCCAG8 NPHP1 BBS5 BBS4 BBS12 BBS10
36 polycystic kidney disease 1 with or without polycystic liver disease 31.7 NPHP1 BBS4 BBS1
37 primary ciliary dyskinesia 31.7 SDCCAG8 NPHP1 IFT27 BBS5 BBS4 BBS2
38 meckel syndrome, type 1 31.7 WDPCP SDCCAG8 NPHP1 MKKS IFT27 BBS9
39 leber plus disease 31.6 TTC8 SDCCAG8 NPHP1 MKKS BBS9 BBS7
40 nephronophthisis 31.5 WDPCP SDCCAG8 NPHP1 MKKS IFT27 CCDC28B
41 retinal degeneration 31.0 NPHP1 MKKS BBS7 BBS4 BBS10 BBS1
42 bardet-biedl syndrome 2 30.8 MKKS BBS2
43 polydactyly 30.8 TTC8 SDCCAG8 MKKS LZTFL1 IFT27 BBS9
44 retinitis pigmentosa 74 30.8 TTC8 BBS2
45 retinitis pigmentosa 55 30.7 TTC8 ARL6
46 bardet-biedl syndrome 30.7 WDPCP TTC8 SDCCAG8 NPHP1 MKKS LZTFL1
47 retinal disease 30.7 TTC8 MKKS BBS9 BBS7 BBS5 BBS4
48 nephronophthisis 15 30.6 SDCCAG8 NPHP1
49 nephronophthisis 4 30.6 TTC8 NPHP1
50 retinitis pigmentosa 30.5 WDPCP TTC8 SDCCAG8 NPHP1 MKKS LZTFL1

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



Diseases related to Bardet-Biedl Syndrome 1

Symptoms & Phenotypes for Bardet-Biedl Syndrome 1

Human phenotypes related to Bardet-Biedl Syndrome 1:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
ataxia
poor coordination
developmental delay
mental retardation
speech delay
more
Growth Weight:
obesity

Skeletal Hands:
brachydactyly
polydactyly, usually postaxial (major)

Abdomen Gastrointestinal:
hirschsprung disease (rare)

Genitourinary External Genitalia Male:
hypogonadism (major)
hypogenitalism

Skeletal Feet:
polydactyly (major)

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

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 (Updated 05-Mar-2021)

UMLS symptoms related to Bardet-Biedl Syndrome 1:


ataxia

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 1:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
2 cellular MP:0005384 10.29 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
3 behavior/neurological MP:0005386 10.27 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
4 nervous system MP:0003631 10.22 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
5 adipose tissue MP:0005375 10.21 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
6 craniofacial MP:0005382 10.16 ARL6 BBS1 BBS2 BBS4 BBS7 IFT27
7 limbs/digits/tail MP:0005371 10.02 BBS1 BBS2 BBS5 BBS7 BBS9 IFT27
8 integument MP:0010771 10.01 ASTN2 BBS10 BBS2 BBS4 CEP19 IFT27
9 renal/urinary system MP:0005367 9.96 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
10 respiratory system MP:0005388 9.7 BBS1 BBS2 BBS4 IFT27 MKKS TTC8
11 vision/eye MP:0005391 9.55 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
12 taste/olfaction MP:0005394 9.43 BBS1 BBS2 BBS4 BBS7 MKKS TTC8

Drugs & Therapeutics for Bardet-Biedl Syndrome 1

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


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

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 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
7 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
8 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
9 Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics Terminated NCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome 1

Genetic Tests for Bardet-Biedl Syndrome 1

Genetic tests related to Bardet-Biedl Syndrome 1:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 1 29 ARL6 BBS1 CCDC28B
2 Bardet-Biedl Syndrome 1, Modifier of 29

Anatomical Context for Bardet-Biedl Syndrome 1

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

40
Heart, Kidney, Retina, Ovary, Bone, Cortex, Smooth Muscle

Publications for Bardet-Biedl Syndrome 1

Articles related to Bardet-Biedl Syndrome 1:

(show top 50) (show all 220)
# Title Authors PMID Year
1
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 61 6 57
12524598 2003
2
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 61 6 57
12118255 2002
3
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 57 6
23847139 2013
4
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 57 6
15314642 2004
5
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 57 61
27486776 2016
6
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 61 57
21052717 2011
7
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 61 57
20177705 2010
8
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. 57 61
18299575 2008
9
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 57 61
18032602 2007
10
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. 61 57
17959775 2007
11
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. 57 61
15322545 2004
12
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. 61 6
12837689 2003
13
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 6 61
12677556 2003
14
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 61 6
12567324 2003
15
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 61 57
10973251 2000
16
A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. 57 61
10577922 1999
17
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. 61 57
10577921 1999
18
Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. 61 57
9888993 1999
19
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. 61 6
9714014 1998
20
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. 57 61
9126487 1997
21
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. 61 57
9039982 1997
22
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. 61 57
8075632 1994
23
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. 57
33046855 2020
24
Genetics of human Bardet-Biedl syndrome, an updates. 57
26762677 2016
25
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 57
25982971 2015
26
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). 57
24026985 2014
27
In search of triallelism in Bardet-Biedl syndrome. 57
22353939 2012
28
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 57
21552264 2011
29
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 57
19430481 2009
30
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. 6
16327777 2006
31
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. 57
16170314 2005
32
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. 57
15637713 2005
33
Retinal function in carriers of Bardet-Biedl syndrome. 57
12796250 2003
34
Exploring the molecular basis of Bardet-Biedl syndrome. 57
11673413 2001
35
Genetics. The land between Mendelian and multifactorial inheritance. 57
11567125 2001
36
Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome. 57
10602122 2000
37
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. 57
10465109 1999
38
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. 57
10874630 1999
39
Hydrometrocolpos as a neonatal manifestation of the Bardet-Biedl syndrome. 57
9056566 1997
40
Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease. 57
8818459 1996
41
Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. 57
7702084 1995
42
Genital abnormalities in females with Bardet-Biedl syndrome. 57
7726222 1995
43
Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. 57
7802002 1994
44
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. 57
8298649 1993
45
Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome. 57
1488972 1992
46
Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. 57
2333905 1990
47
High incidence of Bardet Biedl syndrome among the Bedouin. 57
2591073 1989
48
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. 57
2779627 1989
49
The spectrum of renal disease in Laurence-Moon-Biedl syndrome. 57
3412378 1988
50
Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. 57
3359670 1988

Variations for Bardet-Biedl Syndrome 1

ClinVar genetic disease variations for Bardet-Biedl Syndrome 1:

6 (show top 50) (show all 1593)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MKKS NM_018848.3(MKKS):c.873_876dup (p.Cys293fs) Duplication Pathogenic 21672 rs113994196 20:10393286-10393287 20:10412638-10412639
2 BBS1 NM_024649.5(BBS1):c.1340-2A>G SNV Pathogenic 21706 rs113994180 11:66297288-66297288 11:66529817-66529817
3 BBS1 NM_024649.5(BBS1):c.831-3C>G SNV Pathogenic 21707 rs113994179 11:66290924-66290924 11:66523453-66523453
4 BBS1 NM_024649.5(BBS1):c.-3_37del (p.Met1fs) Deletion Pathogenic 21708 rs113994178 11:66278117-66278156 11:66510646-66510685
5 BBS4 NM_033028.5(BBS4):c.157-2A>G SNV Pathogenic 9147 rs113994192 15:73004583-73004583 15:72712242-72712242
6 BBS4 NM_033028.5(BBS4):c.220+1G>C SNV Pathogenic 21729 rs113994190 15:73004649-73004649 15:72712308-72712308
7 BBS4 NM_033028.5(BBS4):c.406-2A>C SNV Pathogenic 21730 rs113994191 15:73015133-73015133 15:72722792-72722792
8 BBS1 NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) SNV Pathogenic 12144 rs121917777 11:66299163-66299163 11:66531692-66531692
9 BBS1 NM_024649.5(BBS1):c.432+1G>A SNV Pathogenic 12145 rs587777829 11:66282150-66282150 11:66514679-66514679
10 BBS1 NM_024649.5(BBS1):c.851del (p.Tyr284fs) Deletion Pathogenic 12146 rs587777830 11:66290947-66290947 11:66523476-66523476
11 BBS1 BBS1, 1-BP DEL, 1650C Deletion Pathogenic 12149
12 MKKS NM_018848.3(MKKS):c.431_441del (p.Phe144fs) Deletion Pathogenic 21670 rs113994195 20:10393722-10393732 20:10413074-10413084
13 BBS4 NM_033028.5(BBS4):c.77-216del Deletion Pathogenic 9146 rs113994189 15:73001821-73001821 15:72709480-72709480
14 ARL6 NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) SNV Pathogenic 68064 rs137854907 3:97503816-97503816 3:97784972-97784972
15 BBS12 NM_152618.3(BBS12):c.323C>G (p.Pro108Arg) SNV Pathogenic 68065 rs151344630 4:123663370-123663370 4:122742215-122742215
16 BBS5 NM_152384.3(BBS5):c.413G>A (p.Arg138His) SNV Pathogenic 68066 rs179363897 2:170349410-170349410 2:169492900-169492900
17 BBIP1 NM_001195306.1(BBIP1):c.173T>G (p.Leu58Ter) SNV Pathogenic 126379 rs515726134 10:112660224-112660224 10:110900466-110900466
18 BBS2 NM_031885.4(BBS2):c.1015C>T (p.Arg339Ter) SNV Pathogenic 35754 rs193922710 16:56536294-56536294 16:56502382-56502382
19 BBS9 NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) SNV Pathogenic 216145 rs863224534 7:33388773-33388773 7:33349161-33349161
20 BBS10 NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) SNV Pathogenic 216124 rs863224522 12:76741234-76741234 12:76347454-76347454
21 BBS9 NM_198428.2(BBS9):c.(?_-1)_328+?del Deletion Pathogenic 216143 7:33185864-33195314 7:33146252-33155702
22 BBS7 NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs) Indel Pathogenic 216137 rs863224529 4:122749327-122749329 4:121828172-121828174
23 ASTN2 NM_001365068.1(ASTN2):c.2806+27641G>A SNV Pathogenic 7351 rs111033571 9:119460409-119460409 9:116698130-116698130
24 BBS9 NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter) SNV Pathogenic 216144 rs762511626 7:33388720-33388720 7:33349108-33349108
25 BBS7 NM_176824.3(BBS7):c.389_390del (p.Asn130fs) Deletion Pathogenic 216138 rs863224530 4:122780285-122780286 4:121859130-121859131
26 TTC8 NM_144596.4(TTC8):c.489G>A (p.Thr163=) SNV Pathogenic 2530 rs119103286 14:89307540-89307540 14:88841196-88841196
27 BBS1 NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) SNV Pathogenic 217433 rs869025205 11:66291255-66291255 11:66523784-66523784
28 BBS1 NM_024649.5(BBS1):c.48-3C>G SNV Pathogenic 217432 rs869025204 11:66278481-66278481 11:66511010-66511010
29 BBS1 NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) SNV Pathogenic 241521 rs878855095 11:66282133-66282133 11:66514662-66514662
30 BBS1 NM_024649.5(BBS1):c.1424dup (p.Ser476fs) Duplication Pathogenic 266084 rs886039798 11:66297373-66297374 11:66529902-66529903
31 BBS9 NM_198428.3(BBS9):c.956del (p.Thr319fs) Deletion Pathogenic 266086 rs886039799 7:33313508-33313508 7:33273896-33273896
32 BBS4 NM_033028.5(BBS4):c.172C>T (p.Gln58Ter) SNV Pathogenic 266089 rs886039802 15:73004600-73004600 15:72712259-72712259
33 BBS2 NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del Deletion Pathogenic 266085 16:56519651-56539861 16:56485739-56505949
34 BBS4 NM_033028.5(BBS4):c.1226del (p.Ser409fs) Deletion Pathogenic 266087 rs886039800 15:73028285-73028285 15:72735944-72735944
35 BBS1 Deletion Pathogenic 266090 11:66294159-66301137 11:66526688-66533666
36 BBS9 NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) SNV Pathogenic 266106 rs775081992 7:33192423-33192423 7:33152811-33152811
37 BBS4 NM_033028.4:r.118_261del Deletion Pathogenic 266081
38 BBS9 NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) SNV Pathogenic 191219 rs749974697 7:33192463-33192463 7:33152851-33152851
39 BBS9 NM_198428.3(BBS9):c.2115+1G>A SNV Pathogenic 266088 rs886039801 7:33427757-33427757 7:33388145-33388145
40 BBS1 NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) SNV Pathogenic 371274 rs1057517143 11:66290967-66290967 11:66523496-66523496
41 BBS1 NM_024649.5(BBS1):c.1072del (p.Tyr358fs) Deletion Pathogenic 370496 rs1057516533 11:66291313-66291313 11:66523842-66523842
42 BBS7 NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) SNV Pathogenic 3016 rs119466002 4:122775945-122775945 4:121854790-121854790
43 BBS1 NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) Deletion Pathogenic 371133 rs775769424 11:66298405-66298406 11:66530934-66530935
44 BBS10 NM_024685.4(BBS10):c.257_261del (p.Phe86fs) Deletion Pathogenic 406219 rs1060500996 12:76741504-76741508 12:76347724-76347728
45 BBS1 NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) SNV Pathogenic 412287 rs1060503690 11:66294179-66294179 11:66526708-66526708
46 BBS4 NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter) SNV Pathogenic 412296 rs367882912 15:73016922-73016922 15:72724581-72724581
47 BBS1 NM_024649.5(BBS1):c.17dup (p.Ser7fs) Duplication Pathogenic 412283 rs1166022838 11:66278146-66278147 11:66510675-66510676
48 BBS9 NM_198428.3(BBS9):c.263+1G>A SNV Pathogenic 412264 rs137962929 7:33192464-33192464 7:33152852-33152852
49 BBS4 NM_033028.5(BBS4):c.638T>A (p.Leu213Ter) SNV Pathogenic 412298 rs1060503692 15:73020331-73020331 15:72727990-72727990
50 NPHP1 GRCh37/hg19 2q13(chr2:110875689-110967529) copy number loss Pathogenic 431747 2:110875689-110967529

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

73 (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

Expression for Bardet-Biedl Syndrome 1

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

Pathways for Bardet-Biedl Syndrome 1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 TTC8 SDCCAG8 NPHP1 MKKS LZTFL1 IFT27
2
Show member pathways
11.8 TTC8 MKKS LZTFL1 BBS9 BBS7 BBS5

GO Terms for Bardet-Biedl Syndrome 1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.41 WDPCP TTC8 SDCCAG8 NPHP1 MKKS LZTFL1
2 cytosol GO:0005829 10.3 TTC8 SDCCAG8 NPHP1 MKKS LZTFL1 BBS9
3 cytoskeleton GO:0005856 10.21 WDPCP TTC8 SDCCAG8 NPHP1 MKKS CEP19
4 microtubule organizing center GO:0005815 10.1 TTC8 SDCCAG8 MKKS CCDC28B BBS9 BBS7
5 centrosome GO:0005813 10.09 TTC8 SDCCAG8 MKKS IFT27 CEP19 CCDC28B
6 ciliary basal body GO:0036064 9.97 TTC8 SDCCAG8 MKKS CEP19 BBS7 BBS5
7 motile cilium GO:0031514 9.89 NPHP1 MKKS IFT27 BBS4 BBS2
8 axoneme GO:0005930 9.88 WDPCP BBS7 BBS5 BBS1 ARL6
9 ciliary membrane GO:0060170 9.86 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
10 cilium GO:0005929 9.83 WDPCP TTC8 NPHP1 IFT27 CEP19 BBS9
11 centriolar satellite GO:0034451 9.81 SDCCAG8 BBS9 BBS5 BBS4
12 BBSome GO:0034464 9.76 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
13 centriole GO:0005814 9.72 SDCCAG8 CEP19 BBS4
14 pericentriolar material GO:0000242 9.54 BBS9 BBS4
15 cell projection GO:0042995 9.53 WDPCP TTC8 SDCCAG8 NPHP1 IFT27 CEP19

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 response to stimulus GO:0050896 10.11 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
2 protein transport GO:0015031 10.11 TTC8 IFT27 BBS9 BBS7 BBS5 BBS4
3 visual perception GO:0007601 9.97 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
4 fat cell differentiation GO:0045444 9.91 TTC8 MKKS BBS9 BBS7 BBS4 BBS2
5 photoreceptor cell maintenance GO:0045494 9.88 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
6 heart looping GO:0001947 9.85 MKKS BBS7 BBS5 BBS4
7 protein localization to cilium GO:0061512 9.81 BBS9 BBS4 BBS1 ARL6
8 intracellular transport GO:0046907 9.8 MKKS BBS7 BBS5 BBS4
9 cerebral cortex development GO:0021987 9.79 MKKS BBS4 BBS2
10 determination of left/right symmetry GO:0007368 9.78 MKKS BBS7 ARL6
11 smoothened signaling pathway GO:0007224 9.77 WDPCP IFT27 BBS7
12 hippocampus development GO:0021766 9.77 MKKS BBS4 BBS2
13 cilium assembly GO:0060271 9.77 WDPCP TTC8 MKKS CEP19 CCDC28B BBS9
14 brain morphogenesis GO:0048854 9.74 MKKS BBS4 BBS2
15 chaperone-mediated protein complex assembly GO:0051131 9.73 MKKS BBS12 BBS10
16 melanosome transport GO:0032402 9.73 MKKS BBS7 BBS5 BBS4 BBS2 ARL6
17 striatum development GO:0021756 9.71 MKKS BBS4 BBS2
18 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.7 MKKS BBS4 BBS2
19 non-motile cilium assembly GO:1905515 9.7 TTC8 MKKS BBS7 BBS4 BBS2 BBS10
20 Golgi to plasma membrane protein transport GO:0043001 9.66 BBS2 BBS1
21 intraciliary transport GO:0042073 9.66 IFT27 BBS12
22 adult behavior GO:0030534 9.65 BBS4 BBS2
23 vasodilation GO:0042311 9.65 MKKS BBS2
24 inner ear receptor cell stereocilium organization GO:0060122 9.65 TTC8 IFT27
25 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.65 MKKS BBS4 BBS2
26 protein localization to organelle GO:0033365 9.64 BBS4 BBS2
27 regulation of stress fiber assembly GO:0051492 9.64 TTC8 MKKS
28 artery smooth muscle contraction GO:0014824 9.63 MKKS BBS2
29 response to leptin GO:0044321 9.63 MKKS BBS2
30 microtubule anchoring at centrosome GO:0034454 9.62 CEP19 BBS4
31 leptin-mediated signaling pathway GO:0033210 9.62 MKKS BBS2
32 sensory processing GO:0050893 9.58 TTC8 BBS4
33 pigment granule aggregation in cell center GO:0051877 9.58 MKKS BBS7
34 cell projection organization GO:0030030 9.47 WDPCP TTC8 SDCCAG8 NPHP1 CEP19 CCDC28B

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 9.96 WDPCP TTC8 SDCCAG8 NPHP1 MKKS LZTFL1
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.23 TTC8 MKKS BBS7 BBS5 BBS4 BBS2

Sources for Bardet-Biedl Syndrome 1

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....