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BBS1
MCID: BRD010
MIFTS: 61

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
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 56 12 52 73 29 13 6 15 17 71
Bbs1 56 12 52 73
Bardet-Biedl Syndrome 1, Modifier of 56 29 6
Bardet-Biedl Syndrome 52 73 71
Bardet-Biedl Syndrome, Type 1 74 39
Bbs 52 73
Laurence-Moon-Bardet-Biedl Syndrome 73

Characteristics:

OMIM:

56
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Eye diseases Gastrointestinal diseases Nephrological diseases Reproductive 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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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 laurence-moon syndrome and bardet-biedl syndrome 12, 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 alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and bone, 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.

NIH Rare Diseases : 52 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 : 56 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)

Wikipedia : 74 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 695)
# Related Disease Score Top Affiliating Genes
1 laurence-moon syndrome 33.8 MKKS BBS2 ARL6
2 bardet-biedl syndrome 12 33.0 WDPCP BBS12
3 ciliopathy 32.9 KIF7 BBS7 BBS1
4 bardet-biedl syndrome 13 32.9 WDPCP BBS9 BBS7 BBS4 BBS12 BBS10
5 nonsyndromic retinitis pigmentosa 32.8 BBS2 BBS1
6 bardet-biedl syndrome 10 32.8 TMEM216 BBS7 BBS4 BBS2 BBS12 BBS10
7 bardet-biedl syndrome 16 32.7 WDPCP LZTFL1 BBS9 BBS7 BBS4 BBS12
8 bardet-biedl syndrome 15 32.7 WDPCP LZTFL1 BBS9 BBS7 BBS4 BBS12
9 inherited retinal disorder 32.7 BBS2 BBS10 BBS1
10 pathologic nystagmus 32.6 KIF7 CCDC28B BBS1
11 bardet-biedl syndrome 18 32.6 WDPCP LZTFL1 BBS9 BBS7 BBS4 BBS2
12 bardet-biedl syndrome 17 32.6 WDPCP LZTFL1 BBS9 BBS7 BBS4 BBS2
13 cystic kidney disease 32.5 TMEM216 BBS4 BBS2 BBS1
14 mckusick-kaufman syndrome 32.5 MKKS BBS7 BBS4 BBS2 BBS12 BBS1
15 bardet-biedl syndrome 11 32.4 WDPCP MKKS LZTFL1 BBS9 BBS7 BBS4
16 bardet-biedl syndrome 8 32.4 WDPCP MKKS LZTFL1 BBS9 BBS7 BBS4
17 bardet-biedl syndrome 19 32.4 WDPCP LZTFL1 BBS9 BBS7 BBS12 BBS10
18 bardet-biedl syndrome 3 32.3 WDPCP MKKS LZTFL1 BBS9 BBS7 BBS4
19 nephronophthisis 32.3 TMEM216 KIF7 BBS7 BBS4 BBS2 BBS1
20 retinal disease 32.2 MKKS BBS9 BBS7 BBS4 BBS2 BBS10
21 tetralogy of fallot 32.2 MKKS BBS7 BBS4 BBS2 BBS1
22 bardet-biedl syndrome 14 32.2 WDPCP TMEM216 MKKS LZTFL1 BBS9 BBS7
23 physical disorder 32.1 MKKS BBS4 BBS2 BBS1
24 kartagener syndrome 32.0 TMEM216 BBS4 BBS2 BBS1
25 visceral heterotaxy 31.9 TMEM216 BBS7 BBS4 BBS2 BBS1
26 alstrom syndrome 31.8 MKKS BBS7 BBS2 BBS10 BBS1 ALMS1
27 chromosome 2q35 duplication syndrome 31.8 WDPCP TMEM216 MKKS BBS2 BBS10 BBS1
28 fundus dystrophy 31.8 TMEM216 MKKS KIF7 BBS9 BBS7 BBS4
29 leber congenital amaurosis 31.4 TMEM216 MKKS BBS4 BBS2 BBS12 BBS10
30 senior-loken syndrome 1 31.3 TMEM216 MKKS CCDC28B BBS4 BBS2 BBS12
31 meckel syndrome, type 1 31.1 WDPCP TMEM216 MKKS KIF7 BBS9 BBS7
32 joubert syndrome 1 31.0 WDPCP TMEM216 MKKS KIF7 BBS9 BBS7
33 bardet-biedl syndrome 2 30.8 MKKS BBS2
34 polydactyly 30.7 MKKS LZTFL1 BBS7 BBS4 BBS2 BBS12
35 retinal degeneration 30.6 MKKS BBS7 BBS4 BBS10 BBS1
36 coloboma of macula 30.5 TMEM216 KIF7 BBS2
37 acrocallosal syndrome 29.9 TMEM216 KIF7 BBS4 BBS2
38 bardet-biedl syndrome 6 29.7 WDPCP MKKS LZTFL1 BBS9 BBS7 BBS4
39 retinitis pigmentosa 29.2 ZDHHC24 WDPCP TMEM216 MKKS LZTFL1 CCDC28B
40 bardet-biedl syndrome 29.2 ZDHHC24 WDPCP TMEM216 MKKS LZTFL1 KIF7
41 vaginal atresia 11.9
42 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.7
43 body mass index quantitative trait locus 11 11.5
44 polycystic kidney disease 11.5
45 bardet-biedl syndrome 5 11.5
46 bardet-biedl syndrome 7 11.5
47 bardet-biedl syndrome 9 11.5
48 bardet-biedl syndrome 20 11.4
49 bardet-biedl syndrome 21 11.4
50 usher syndrome 11.3

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:

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

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

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

Head And Neck Teeth:
dental crowding
hypodontia
small tooth roots

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
Skeletal Hands:
brachydactyly
polydactyly, usually postaxial (major)

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:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 ALMS1 ARL6 BBIP1 BBS1 BBS10 BBS12
2 cellular MP:0005384 10.23 ALMS1 ARL6 BBS1 BBS10 BBS12 BBS2
3 behavior/neurological MP:0005386 10.22 ALMS1 ARL6 BBIP1 BBS1 BBS10 BBS12
4 nervous system MP:0003631 10.2 ALMS1 ARL6 BBIP1 BBS1 BBS10 BBS12
5 adipose tissue MP:0005375 10.15 ALMS1 ARL6 BBS1 BBS10 BBS12 BBS2
6 craniofacial MP:0005382 10.09 ARL6 BBS1 BBS4 BBS7 EHD1 HS2ST1
7 limbs/digits/tail MP:0005371 9.97 BBS1 BBS2 BBS7 BBS9 HS2ST1 KIF7
8 renal/urinary system MP:0005367 9.91 ALMS1 BBS1 BBS10 BBS12 BBS2 BBS4
9 reproductive system MP:0005389 9.85 ALMS1 ARL6 BBIP1 BBS1 BBS2 BBS4
10 vision/eye MP:0005391 9.5 ALMS1 ARL6 BBIP1 BBS1 BBS10 BBS12
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 2, Phase 3
2 alpha-MSH Phase 2, Phase 3 581-05-5
3 Hormones Phase 2, Phase 3
4 Insulin, Globin Zinc
5 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
2 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 Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
3 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
4 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811
5 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
6 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
7 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
8 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing Recruiting NCT02510989
9 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
10 Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics 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 29 BBS1 CCDC28B
2 Bardet-Biedl Syndrome 1, Modifier of 29
Sources

Anatomical Context for Bardet-Biedl Syndrome 1

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

40
Kidney, Heart, Bone, Liver, Prostate, Brain, Lung
Sources

Publications for Bardet-Biedl Syndrome 1

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Articles related to Bardet-Biedl Syndrome 1:

(show top 50) (show all 206)
# Title Authors PMID Year
1
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 61 56 6
12524598 2003
2
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 61 56 6
12118255 2002
3
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 56 6
23847139 2013
4
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 56 6
15314642 2004
5
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 61 56
27486776 2016
6
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 61 56
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 56
20177705 2010
8
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. 61 56
18299575 2008
9
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 61 56
18032602 2007
10
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. 61 56
17959775 2007
11
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. 61 56
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
Bardet-Biedl Syndrome 61 6
20301537 2003
14
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 61 6
12677556 2003
15
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 61 6
12567324 2003
16
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 61 56
10973251 2000
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 56
10577921 1999
18
A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. 61 56
10577922 1999
19
Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. 61 56
9888993 1999
20
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. 61 6
9714014 1998
21
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. 61 56
9126487 1997
22
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. 61 56
9039982 1997
23
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. 61 56
8075632 1994
24
Genetics of human Bardet-Biedl syndrome, an updates. 56
26762677 2016
25
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 56
25982971 2015
26
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). 56
24026985 2014
27
In search of triallelism in Bardet-Biedl syndrome. 56
22353939 2012
28
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 56
21552264 2011
29
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 56
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. 56
16170314 2005
32
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. 56
15637713 2005
33
Retinal function in carriers of Bardet-Biedl syndrome. 56
12796250 2003
34
Exploring the molecular basis of Bardet-Biedl syndrome. 56
11673413 2001
35
Genetics. The land between Mendelian and multifactorial inheritance. 56
11567125 2001
36
Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome. 56
10602122 2000
37
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. 56
10465109 1999
38
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. 56
10874630 1999
39
Hydrometrocolpos as a neonatal manifestation of the Bardet-Biedl syndrome. 56
9056566 1997
40
Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease. 56
8818459 1996
41
Genital abnormalities in females with Bardet-Biedl syndrome. 56
7726222 1995
42
Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. 56
7702084 1995
43
Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. 56
7802002 1994
44
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. 56
8298649 1993
45
Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome. 56
1488972 1992
46
Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. 56
2333905 1990
47
High incidence of Bardet Biedl syndrome among the Bedouin. 56
2591073 1989
48
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. 56
2779627 1989
49
The spectrum of renal disease in Laurence-Moon-Biedl syndrome. 56
3412378 1988
50
Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. 56
3359670 1988
Sources

Variations for Bardet-Biedl Syndrome 1

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ClinVar genetic disease variations for Bardet-Biedl Syndrome 1:

6 (show top 50) (show all 134) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BBS1 NM_024649.5(BBS1):c.48-3C>GSNV Pathogenic 217432 rs869025204 11:66278481-66278481 11:66511010-66511010
2 BBS1 NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter)SNV Pathogenic 217433 rs869025205 11:66291255-66291255 11:66523784-66523784
3 BBS10 NM_024685.4(BBS10):c.271dup (p.Cys91fs)duplication Pathogenic 1328 rs549625604 12:76741493-76741494 12:76347713-76347714
4 ARL6 NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)SNV Pathogenic,risk factor 2041 rs104893679 3:97510641-97510641 3:97791797-97791797
5 BBS9 NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)deletion Pathogenic 2662 rs606231137 7:33423364-33423367 7:33383752-33383755
6 BBS1 NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)SNV Pathogenic 12143 rs113624356 11:66293652-66293652 11:66526181-66526181
7 BBS1 NM_024649.5(BBS1):c.851del (p.Tyr284fs)deletion Pathogenic 12146 rs587777830 11:66290947-66290947 11:66523476-66523476
8 BBS1 BBS1, 1-BP DEL, 1650Cdeletion Pathogenic 12149
9 BBS1 NM_024649.5(BBS1):c.831-3C>GSNV Pathogenic 21707 rs113994179 11:66290924-66290924 11:66523453-66523453
10 BBIP1 NM_001195306.1(BBIP1):c.173T>G (p.Leu58Ter)SNV Pathogenic 126379 rs515726134 10:112660224-112660224 10:110900466-110900466
11 LZTFL1 NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)SNV Pathogenic 126380 rs515726135 3:45877145-45877145 3:45835653-45835653
12 LZTFL1 NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)SNV Pathogenic 126381 rs515726136 3:45868951-45868951 3:45827459-45827459
13 BBS1 NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)SNV Pathogenic 371274 rs1057517143 11:66290967-66290967 11:66523496-66523496
14 BBS1 NM_024649.5(BBS1):c.1072del (p.Tyr358fs)deletion Pathogenic 370496 rs1057516533 11:66291313-66291313 11:66523842-66523842
15 BBS1 NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)deletion Pathogenic 371133 rs775769424 11:66298405-66298406 11:66530934-66530935
16 BBS1 NM_024649.5(BBS1):c.952-1G>CSNV Pathogenic 434481 rs1057516661 11:66291194-66291194 11:66523723-66523723
17 BBS1 NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)SNV Pathogenic 412287 rs1060503690 11:66294179-66294179 11:66526708-66526708
18 BBS1 NM_024649.5(BBS1):c.17dup (p.Ser7fs)duplication Pathogenic 412283 rs1166022838 11:66278146-66278147 11:66510675-66510676
19 BBS1 NM_024649.5(BBS1):c.124+1G>ASNV Pathogenic 557428 rs1057516449 11:66278561-66278561 11:66511090-66511090
20 BBS1 NM_024649.5(BBS1):c.1642del (p.Leu548fs)deletion Pathogenic 554520 rs1555050404 11:66299156-66299156 11:66531685-66531685
21 BBS1 NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter)SNV Pathogenic 560428 rs1565289799 11:66297355-66297355 11:66529884-66529884
22 BBS1 NM_024649.5(BBS1):c.118del (p.Cys40fs)deletion Pathogenic 802688 11:66278554-66278554 11:66511083-66511083
23 BBS1 NM_024649.5(BBS1):c.1243del (p.Val415fs)deletion Pathogenic 802689 11:66294181-66294181 11:66526710-66526710
24 BBS1 NM_024649.5(BBS1):c.724-1G>CSNV Pathogenic/Likely pathogenic 552356 rs748523268 11:66288740-66288740 11:66521269-66521269
25 BBS10 NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)SNV Pathogenic/Likely pathogenic 522272 rs1460517643 12:76741975-76741975 12:76348195-76348195
26 BBS1 NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)SNV Pathogenic/Likely pathogenic 12144 rs121917777 11:66299163-66299163 11:66531692-66531692
27 BBS1 NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)SNV Pathogenic/Likely pathogenic 188983 rs768443448 11:66294224-66294224 11:66526753-66526753
28 BBS1 NM_024649.5(BBS1):c.432+1G>ASNV Likely pathogenic 12145 rs587777829 11:66282150-66282150 11:66514679-66514679
29 MKKS NM_170784.2(MKKS):c.973A>C (p.Thr325Pro)SNV risk factor 5320 rs137853156 20:10393190-10393190 20:10412542-10412542
30 CCDC28B NM_024296.4(CCDC28B):c.330C>T (p.Phe110=)SNV risk factor 1326 rs41263993 1:32669645-32669645 1:32204044-32204044
31 BBS1 NM_024649.5(BBS1):c.777del (p.Glu260fs)deletion Likely pathogenic 522419 rs1555047786 11:66288793-66288793 11:66521322-66521322
32 BBS1 NM_024649.5(BBS1):c.48-1G>TSNV Likely pathogenic 551439 rs751753112 11:66278483-66278483 11:66511012-66511012
33 BBS1 NM_024649.5(BBS1):c.1609-2A>TSNV Likely pathogenic 558603 rs1555050394 11:66299125-66299125 11:66531654-66531654
34 BBS1 NM_024649.5(BBS1):c.433-2A>GSNV Likely pathogenic 558724 rs1555046748 11:66283009-66283009 11:66515538-66515538
35 BBS1 NM_024649.5(BBS1):c.518+1G>ASNV Likely pathogenic 552575 rs771517209 11:66283203-66283203 11:66515732-66515732
36 BBS1 NM_024649.5(BBS1):c.1643dup (p.Glu549fs)duplication Likely pathogenic 371262 rs773632109 11:66299160-66299161 11:66531689-66531690
37 BBS1 NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer)deletion Likely pathogenic 370965 rs1057516901 11:66297372-66297372 11:66529901-66529901
38 BBS1 NM_024649.5(BBS1):c.951+1G>ASNV Likely pathogenic 370919 rs746875134 11:66291048-66291048 11:66523577-66523577
39 BBS1 NM_024649.5(BBS1):c.952-1G>ASNV Likely pathogenic 370653 rs1057516661 11:66291194-66291194 11:66523723-66523723
40 BBS1 NM_024649.5(BBS1):c.981del (p.Ala328fs)deletion Likely pathogenic 370281 rs1057516371 11:66291222-66291222 11:66523751-66523751
41 BBS1 NM_024649.5(BBS1):c.48-2A>CSNV Likely pathogenic 371141 rs764245266 11:66278482-66278482 11:66511011-66511011
42 BBS1 NM_024649.5(BBS1):c.124+1G>CSNV Likely pathogenic 370386 rs1057516449 11:66278561-66278561 11:66511090-66511090
43 BBS1 NM_024649.5(BBS1):c.159+2T>ASNV Likely pathogenic 370462 rs1057516507 11:66278712-66278712 11:66511241-66511241
44 BBS1 NM_024649.5(BBS1):c.182del (p.Pro61fs)deletion Likely pathogenic 371100 rs1057517007 11:66281897-66281897 11:66514426-66514426
45 BBS1 NM_024649.5(BBS1):c.223_224del (p.Leu75fs)deletion Likely pathogenic 370389 rs1057516451 11:66281940-66281941 11:66514469-66514470
46 BBS1 NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)SNV Likely pathogenic 370228 rs376894444 11:66283057-66283057 11:66515586-66515586
47 BBS1 NM_024649.5(BBS1):c.480-1G>CSNV Likely pathogenic 371003 rs1057516933 11:66283163-66283163 11:66515692-66515692
48 BBS1 NM_024649.5(BBS1):c.519-2A>GSNV Likely pathogenic 370456 rs1057516502 11:66283330-66283330 11:66515859-66515859
49 BBS1 NM_024649.5(BBS1):c.786del (p.Ala264fs)deletion Likely pathogenic 370225 rs1057516330 11:66288802-66288802 11:66521331-66521331
50 BBS1 NM_024649.5(BBS1):c.831-2A>GSNV Likely pathogenic 371517 rs1057517332 11:66290925-66290925 11:66523454-66523454

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

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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 65
Show member pathways
 12.16 TMEM216 MKKS LZTFL1 BBS9 BBS7 BBS4
2
Cargo trafficking to the periciliary membrane 65
Show member pathways
 11.73 MKKS LZTFL1 BBS9 BBS7 BBS4 BBS2
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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 cytoplasm GO:0005737 10.36 WDPCP TMEM216 MKKS LZTFL1 KIF7 CCDC28B
2 cytoskeleton GO:0005856 10.1 WDPCP TMEM216 MKKS KIF7 CCDC28B BBS9
3 cell GO:0005623 10.04 MKKS EHD1 BBS7 BBS4 BBS2 ARL6
4 microtubule organizing center GO:0005815 10.01 MKKS CCDC28B BBS9 BBS7 BBS4 BBS2
5 cell projection GO:0042995 10 WDPCP TMEM216 KIF7 EHD1 BBS9 BBS7
6 centrosome GO:0005813 9.93 MKKS CCDC28B BBS7 BBS4 BBS1 ALMS1
7 ciliary basal body GO:0036064 9.85 MKKS KIF7 BBS7 BBS4 BBS2 BBS1
8 axoneme GO:0005930 9.73 WDPCP BBS7 BBS1 ARL6
9 ciliary membrane GO:0060170 9.73 EHD1 BBS9 BBS7 BBS4 BBS2 BBS1
10 motile cilium GO:0031514 9.71 MKKS BBS4 BBS2
11 ciliary transition zone GO:0035869 9.65 TMEM216 BBS9 BBS4
12 pericentriolar material GO:0000242 9.52 BBS9 BBS4
13 cilium GO:0005929 9.47 WDPCP TMEM216 KIF7 EHD1 BBS9 BBS7
14 BBSome GO:0034464 9.43 BBS9 BBS7 BBS4 BBS2 BBS1 BBIP1

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.1 EHD1 BBS9 BBS7 BBS4 BBS2 BBS1
2 response to stimulus GO:0050896 10.08 MKKS BBS9 BBS7 BBS4 BBS2 BBS10
3 visual perception GO:0007601 9.92 MKKS BBS9 BBS7 BBS4 BBS2 BBS10
4 fat cell differentiation GO:0045444 9.88 MKKS BBS9 BBS7 BBS4 BBS2 ARL6
5 protein localization to cilium GO:0061512 9.83 EHD1 BBS9 BBS4 BBS1 ARL6
6 protein localization GO:0008104 9.81 BBS7 BBS4 BBS2
7 cerebral cortex development GO:0021987 9.81 MKKS BBS4 BBS2
8 determination of left/right symmetry GO:0007368 9.8 MKKS BBS7 ARL6
9 hippocampus development GO:0021766 9.79 MKKS BBS4 BBS2
10 heart looping GO:0001947 9.79 MKKS BBS7 BBS4
11 retina homeostasis GO:0001895 9.78 BBS4 BBS10 BBS1
12 positive regulation of multicellular organism growth GO:0040018 9.77 MKKS BBS4 BBS2
13 intracellular transport GO:0046907 9.77 MKKS BBS7 BBS4
14 melanosome transport GO:0032402 9.77 MKKS BBS7 BBS4 BBS2 ARL6
15 brain morphogenesis GO:0048854 9.75 MKKS BBS4 BBS2
16 chaperone-mediated protein complex assembly GO:0051131 9.74 MKKS BBS12 BBS10
17 regulation of stress fiber assembly GO:0051492 9.73 MKKS BBS4 ALMS1
18 photoreceptor cell maintenance GO:0045494 9.73 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
19 striatum development GO:0021756 9.72 MKKS BBS4 BBS2
20 response to leptin GO:0044321 9.71 MKKS BBS4 BBS2
21 leptin-mediated signaling pathway GO:0033210 9.7 MKKS BBS4 BBS2
22 non-motile cilium assembly GO:1905515 9.7 TMEM216 MKKS BBS7 BBS4 BBS2 BBS10
23 cell projection organization GO:0030030 9.7 WDPCP TMEM216 EHD1 CCDC28B BBS9 BBS7
24 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.69 MKKS BBS4 BBS2
25 face development GO:0060324 9.65 MKKS BBS4
26 vasodilation GO:0042311 9.65 MKKS BBS2
27 protein localization to organelle GO:0033365 9.65 BBS4 BBS2
28 negative regulation of actin filament polymerization GO:0030837 9.64 MKKS BBS4
29 artery smooth muscle contraction GO:0014824 9.63 MKKS BBS2
30 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.63 MKKS BBS4 BBS2
31 pigment granule aggregation in cell center GO:0051877 9.58 MKKS BBS7
32 cilium assembly GO:0060271 9.4 WDPCP TMEM216 MKKS EHD1 CCDC28B BBS9

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 9.93 ZDHHC24 WDPCP TMEM216 POLE2 MKKS LZTFL1
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.1 MKKS BBS7 BBS4 BBS2 BBS10 BBS1
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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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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