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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 57 12 53 74 29 13 6 15 17 72
Bbs1 57 12 53 74
Bardet-Biedl Syndrome 1, Modifier of 57 29 6
Bardet-Biedl Syndrome 53 74 72
Bardet-Biedl Syndrome, Type 1 75 40
Bbs 53 74
Laurence-Moon-Bardet-Biedl Syndrome 74

Characteristics:

OMIM:

57
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:

32
bardet-biedl syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110123
MeSH 44 D020788
ICD10 33 Q87.89
UMLS 72 C0752166 C2936862
Sources

Summaries for Bardet-Biedl Syndrome 1

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UniProtKB/Swiss-Prot : 74 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 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 alpha-MSH and Hormones have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart 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.

NIH Rare Diseases : 53 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)

Wikipedia : 75 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 690)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 16 33.3 CCDC28B BBS1
2 nonsyndromic retinitis pigmentosa 33.1 BBS2 BBS1
3 bardet-biedl syndrome 12 33.1 WDPCP BBS12
4 bardet-biedl syndrome 14 33.0 BBS9 BBS2 BBS12 BBS10 BBS1
5 bardet-biedl syndrome 7 32.9 BBS7 BBS12
6 bardet-biedl syndrome 11 32.8 BBS9 BBS12
7 bardet-biedl syndrome 3 32.6 BBS9 BBS7 BBS4 BBS2 BBS1 ARL6
8 bardet-biedl syndrome 19 32.6 BBS2 BBS10
9 bardet-biedl syndrome 8 32.4 BBS7 BBS4 BBS2 BBS10 BBS1 BBIP1
10 bardet-biedl syndrome 13 32.2 WDPCP CCDC28B BBS4 BBS2 BBS12 BBS10
11 bardet-biedl syndrome 18 32.1 PDCD4 BBS7 BBS4 BBS2 BBS1 BBIP1
12 bardet-biedl syndrome 15 32.1 WDPCP MKKS BBS4 BBS2
13 alstrom syndrome 32.0 LEP BBS2 BBS1
14 mckusick-kaufman syndrome 31.9 MKKS BBS7 BBS4 BBS2 BBS12 BBS1
15 meckel syndrome, type 1 31.9 WDPCP BBS4 BBS1
16 bardet-biedl syndrome 17 31.8 LZTFL1 LOC107986083 BBS9 BBS7 BBS4 BBS2
17 fundus dystrophy 31.8 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
18 body mass index quantitative trait locus 11 31.5 MKKS LEP BBS4 BBS2 BBS1
19 bardet-biedl syndrome 4 30.8 BBS4 BBS2 BBS1
20 polydactyly 30.1 MKKS BBS7 BBS4 BBS2 BBS10 BBS1
21 bardet-biedl syndrome 6 29.8 MKKS BBS7 BBS4 BBS2 BBS10 BBS1
22 retinitis pigmentosa 29.2 ZDHHC24 MKKS BBS4 BBS2 BBS12 BBS10
23 bardet-biedl syndrome 22.6 ZDHHC24 WDPCP PDCD4 MKKS LZTFL1 LOC107986083
24 laurence-moon syndrome 12.1
25 vaginal atresia 11.9
26 biemond syndrome 11.8
27 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.7
28 ciliopathy 11.6
29 nephronophthisis 7 11.6
30 bardet-biedl syndrome 5 11.5
31 bardet-biedl syndrome 10 11.5
32 bardet-biedl syndrome 9 11.5
33 inherited retinal disorder 11.4
34 bardet-biedl syndrome 20 11.4
35 bardet-biedl syndrome 21 11.4
36 usher syndrome 11.3
37 nijmegen breakage syndrome 11.3
38 tetralogy of fallot 11.2
39 physical disorder 11.1
40 learning disability 10.9
41 end stage renal failure 10.9
42 chromosome 2q35 duplication syndrome 10.7
43 alacrima, achalasia, and mental retardation syndrome 10.7
44 diabetes mellitus, insulin-dependent 10.7
45 brachydactyly 10.6
46 joubert syndrome 1 10.6
47 leptin deficiency or dysfunction 10.6
48 renal dysplasia 10.6
49 lymphopenia 10.6
50 ataxia and polyneuropathy, adult-onset 10.6

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:

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

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity

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

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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
2 cellular MP:0005384 10.2 ARL6 BBS1 BBS10 BBS2 BBS4 BBS7
3 behavior/neurological MP:0005386 10.18 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
4 adipose tissue MP:0005375 10.15 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
5 nervous system MP:0003631 10.13 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
6 craniofacial MP:0005382 10.03 ARL6 BBS1 BBS4 BBS7 EHD1 KIF7
7 limbs/digits/tail MP:0005371 9.97 BBS1 BBS2 BBS7 BBS9 KIF7 LEP
8 renal/urinary system MP:0005367 9.91 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
9 reproductive system MP:0005389 9.9 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS7
10 vision/eye MP:0005391 9.47 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
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 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 alpha-MSH Phase 2, Phase 3 581-05-5
2 Hormones Phase 2, Phase 3
3 Hormone Antagonists Phase 2, Phase 3
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
5 insulin
6 Insulin, Globin Zinc

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:

41
Kidney, Heart, Retina, Ovary, Testes, Bone, Cortex
Sources

Publications for Bardet-Biedl Syndrome 1

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Articles related to Bardet-Biedl Syndrome 1:

(show top 50) (show all 201)
# Title Authors PMID Year
1
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 38 8 71
12524598 2003
2
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 38 8 71
12118255 2002
3
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 8 71
23847139 2013
4
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 8 71
15314642 2004
5
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 38 8
27486776 2016
6
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 38 8
21052717 2011
7
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 38 8
20177705 2010
8
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. 38 8
18299575 2008
9
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 38 8
18032602 2007
10
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. 38 8
17959775 2007
11
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. 38 8
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. 38 71
12837689 2003
13
Bardet-Biedl Syndrome 38 71
20301537 2003
14
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 38 71
12677556 2003
15
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 38 71
12567324 2003
16
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 38 8
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. 38 8
10577921 1999
18
A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. 38 8
10577922 1999
19
Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. 38 8
9888993 1999
20
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. 38 71
9714014 1998
21
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. 38 8
9126487 1997
22
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. 38 8
9039982 1997
23
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. 38 8
8075632 1994
24
Genetics of human Bardet-Biedl syndrome, an updates. 8
26762677 2016
25
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 8
25982971 2015
26
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). 8
24026985 2014
27
In search of triallelism in Bardet-Biedl syndrome. 8
22353939 2012
28
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 8
21552264 2011
29
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 8
19430481 2009
30
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. 71
16327777 2006
31
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. 8
16170314 2005
32
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. 8
15637713 2005
33
Retinal function in carriers of Bardet-Biedl syndrome. 8
12796250 2003
34
Exploring the molecular basis of Bardet-Biedl syndrome. 8
11673413 2001
35
Genetics. The land between Mendelian and multifactorial inheritance. 8
11567125 2001
36
Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome. 8
10602122 2000
37
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. 8
10465109 1999
38
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. 8
10874630 1999
39
Hydrometrocolpos as a neonatal manifestation of the Bardet-Biedl syndrome. 8
9056566 1997
40
Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease. 8
8818459 1996
41
Genital abnormalities in females with Bardet-Biedl syndrome. 8
7726222 1995
42
Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. 8
7702084 1995
43
Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. 8
7802002 1994
44
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. 8
8298649 1993
45
Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome. 8
1488972 1992
46
Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. 8
2333905 1990
47
High incidence of Bardet Biedl syndrome among the Bedouin. 8
2591073 1989
48
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. 8
2779627 1989
49
The spectrum of renal disease in Laurence-Moon-Biedl syndrome. 8
3412378 1988
50
Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. 8
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 127)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BBS1 NM_024649.5(BBS1): c.871C> T (p.Gln291Ter) single nucleotide variant Pathogenic rs1057517143 11:66290967-66290967 11:66523496-66523496
2 BBS1 NM_024649.5(BBS1): c.1514_1515del (p.Leu505fs) deletion Pathogenic rs775769424 11:66298405-66298406 11:66530934-66530935
3 BBS1 NM_024649.5(BBS1): c.952-1G> C single nucleotide variant Pathogenic rs1057516661 11:66291194-66291194 11:66523723-66523723
4 BBS1 NM_024649.5(BBS1): c.124+1G> A single nucleotide variant Pathogenic rs1057516449 11:66278561-66278561 11:66511090-66511090
5 BBS1 NM_024649.5(BBS1): c.1642del (p.Leu548fs) deletion Pathogenic rs1555050404 11:66299155-66299156 11:66531689-66531689
6 BBS1 NM_024649.5(BBS1): c.1405C> T (p.Gln469Ter) single nucleotide variant Pathogenic 11:66297355-66297355 11:66529884-66529884
7 BBS10 NM_024685.4(BBS10): c.271dup (p.Cys91fs) duplication Pathogenic rs549625604 12:76741494-76741494 12:76347714-76347714
8 ARL6 NM_032146.5(ARL6): c.506G> C (p.Gly169Ala) single nucleotide variant Pathogenic,risk factor rs104893679 3:97510641-97510641 3:97791797-97791797
9 BBS9 NM_198428.3(BBS9): c.1877_1880del (p.Lys626fs) deletion Pathogenic rs606231137 7:33423365-33423368 7:33383753-33383756
10 BBS1 NM_024649.5(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 11:66293652-66293652 11:66526181-66526181
11 BBS1 NM_024649.5(BBS1): c.851del (p.Tyr284fs) deletion Pathogenic rs587777830 11:66290947-66290947 11:66523476-66523476
12 BBS1 BBS1, 1-BP DEL, 1650C deletion Pathogenic
13 BBIP1 NM_001195304.1(BBIP1): c.*18T> G single nucleotide variant Pathogenic rs515726134 10:112660224-112660224 10:110900466-110900466
14 LZTFL1 NM_001276378.1(LZTFL1): c.209T> C (p.Leu70Pro) single nucleotide variant Pathogenic rs515726135 3:45877145-45877145 3:45835653-45835653
15 LZTFL1 NM_001276378.1(LZTFL1): c.727G> T (p.Glu243Ter) single nucleotide variant Pathogenic rs515726136 3:45868951-45868951 3:45827459-45827459
16 BBS1 NM_024649.5(BBS1): c.48-3C> G single nucleotide variant Pathogenic rs869025204 11:66278481-66278481 11:66511010-66511010
17 BBS1 NM_024649.5(BBS1): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs869025205 11:66291255-66291255 11:66523784-66523784
18 BBS1 NM_024649.5(BBS1): c.1645G> T (p.Glu549Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917777 11:66299163-66299163 11:66531692-66531692
19 BBS1 NM_024649.5(BBS1): c.1072del (p.Tyr358fs) deletion Pathogenic/Likely pathogenic rs1057516533 11:66291315-66291315 11:66523844-66523844
20 BBS1 NM_024649.5(BBS1): c.724-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs748523268 11:66288740-66288740 11:66521269-66521269
21 BBS10 NM_024685.4(BBS10): c.164T> C (p.Leu55Pro) single nucleotide variant Pathogenic/Likely pathogenic rs1460517643 12:76741975-76741975 12:76348195-76348195
22 BBS1 NM_024649.5(BBS1): c.777del (p.Glu260fs) deletion Likely pathogenic rs1555047786 11:66288794-66288794 11:66521323-66521323
23 BBS1 NM_024649.5(BBS1): c.518+1G> A single nucleotide variant Likely pathogenic rs771517209 11:66283203-66283203 11:66515732-66515732
24 BBS1 NM_024649.5(BBS1): c.48-1G> T single nucleotide variant Likely pathogenic rs751753112 11:66278483-66278483 11:66511012-66511012
25 BBS1 NM_024649.5(BBS1): c.1609-2A> T single nucleotide variant Likely pathogenic rs1555050394 11:66299125-66299125 11:66531654-66531654
26 BBS1 NM_024649.5(BBS1): c.1423del (p.Ser474_Leu475insTer) deletion Likely pathogenic rs1057516901 11:66297373-66297373 11:66529902-66529902
27 BBS1 NM_024649.5(BBS1): c.433-2A> G single nucleotide variant Likely pathogenic rs1555046748 11:66283009-66283009 11:66515538-66515538
28 BBS1 NM_024649.5(BBS1): c.1643dup (p.Glu549fs) duplication Likely pathogenic rs773632109 11:66299161-66299161 11:66531690-66531690
29 BBS1 NM_024649.5(BBS1): c.951+1G> A single nucleotide variant Likely pathogenic rs746875134 11:66291048-66291048 11:66523577-66523577
30 BBS1 NM_024649.5(BBS1): c.952-1G> A single nucleotide variant Likely pathogenic rs1057516661 11:66291194-66291194 11:66523723-66523723
31 BBS1 NM_024649.5(BBS1): c.981del (p.Ala328fs) deletion Likely pathogenic rs1057516371 11:66291224-66291224 11:66523753-66523753
32 BBS1 NM_024649.5(BBS1): c.223_224del (p.Leu75fs) deletion Likely pathogenic rs1057516451 11:66281940-66281941 11:66514469-66514470
33 BBS1 NM_024649.5(BBS1): c.48-2A> C single nucleotide variant Likely pathogenic rs764245266 11:66278482-66278482 11:66511011-66511011
34 BBS1 NM_024649.5(BBS1): c.124+1G> C single nucleotide variant Likely pathogenic rs1057516449 11:66278561-66278561 11:66511090-66511090
35 BBS1 NM_024649.5(BBS1): c.159+2T> A single nucleotide variant Likely pathogenic rs1057516507 11:66278712-66278712 11:66511241-66511241
36 BBS1 NM_024649.5(BBS1): c.182del (p.Pro61fs) deletion Likely pathogenic rs1057517007 11:66281899-66281899 11:66514428-66514428
37 BBS1 NM_024649.5(BBS1): c.479G> A (p.Arg160Gln) single nucleotide variant Likely pathogenic rs376894444 11:66283057-66283057 11:66515586-66515586
38 BBS1 NM_024649.5(BBS1): c.480-1G> C single nucleotide variant Likely pathogenic rs1057516933 11:66283163-66283163 11:66515692-66515692
39 BBS1 NM_024649.5(BBS1): c.519-2A> G single nucleotide variant Likely pathogenic rs1057516502 11:66283330-66283330 11:66515859-66515859
40 BBS1 NM_024649.5(BBS1): c.786del (p.Ala264fs) deletion Likely pathogenic rs1057516330 11:66288803-66288803 11:66521332-66521332
41 BBS1 NM_024649.5(BBS1): c.831-2A> G single nucleotide variant Likely pathogenic rs1057517332 11:66290925-66290925 11:66523454-66523454
42 BBS1 NM_024649.5(BBS1): c.855C> A (p.Cys285Ter) single nucleotide variant Likely pathogenic rs1057516427 11:66290951-66290951 11:66523480-66523480
43 BBS1 NM_024649.5(BBS1): c.432+1G> A single nucleotide variant Likely pathogenic rs587777829 11:66282150-66282150 11:66514679-66514679
44 MKKS NM_170784.2(MKKS): c.973A> C (p.Thr325Pro) single nucleotide variant risk factor rs137853156 20:10393190-10393190 20:10412542-10412542
45 CCDC28B NM_024296.4(CCDC28B): c.330C> T (p.Phe110=) single nucleotide variant risk factor rs41263993 1:32669645-32669645 1:32204044-32204044
46 BBS1 NM_024649.5(BBS1): c.1A> C (p.Met1Leu) single nucleotide variant Likely pathogenic rs1306821707 11:66278131-66278131 11:66510660-66510660
47 BBS1 NM_024649.5(BBS1): c.1A> T (p.Met1Leu) single nucleotide variant Likely pathogenic rs1306821707 11:66278131-66278131 11:66510660-66510660
48 BBS1 NM_024649.5(BBS1): c.479+2T> G single nucleotide variant Likely pathogenic rs1353098253 11:66283059-66283059 11:66515588-66515588
49 BBS1 NM_024649.5(BBS1): c.1318C> T (p.Arg440Ter) single nucleotide variant Likely pathogenic rs1014835928 11:66294257-66294257 11:66526786-66526786
50 BBS1 NM_024649.5(BBS1): c.1393_1394insTGCC (p.Arg465fs) insertion Likely pathogenic rs1555049933 11:66297341-66297341 11:66529872-66529873

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

74 (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 66
Show member pathways
 12.42 MKKS LZTFL1 BBS9 BBS7 BBS4 BBS2
2
Cargo trafficking to the periciliary membrane 66
Show member pathways
 11.39 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 microtubule organizing center GO:0005815 9.95 MKKS CCDC28B BBS9 BBS7 BBS4 BBS2
2 cell projection GO:0042995 9.93 WDPCP KIF7 EHD1 BBS9 BBS7 BBS4
3 centrosome GO:0005813 9.85 MKKS CCDC28B BBS7 BBS4 BBS1
4 ciliary basal body GO:0036064 9.8 MKKS KIF7 BBS7 BBS4 BBS2 BBS1
5 axoneme GO:0005930 9.73 WDPCP BBS7 BBS1 ARL6
6 ciliary membrane GO:0060170 9.73 EHD1 BBS9 BBS7 BBS4 BBS2 BBS1
7 motile cilium GO:0031514 9.69 MKKS BBS4 BBS2
8 ciliary transition zone GO:0035869 9.54 BBS9 BBS4
9 centriolar satellite GO:0034451 9.52 BBS9 BBS4
10 pericentriolar material GO:0000242 9.49 BBS9 BBS4
11 BBSome GO:0034464 9.43 BBS9 BBS7 BBS4 BBS2 BBS1 BBIP1
12 cilium GO:0005929 9.4 WDPCP KIF7 EHD1 BBS9 BBS7 BBS4
13 cytoplasm GO:0005737 10.32 WDPCP PDCD4 MKKS LZTFL1 LEP KIF7
14 cytoskeleton GO:0005856 10.07 WDPCP MKKS KIF7 CCDC28B BBS9 BBS7

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.92 MKKS BBS9 BBS7 BBS4 BBS2 BBS10
2 fat cell differentiation GO:0045444 9.91 MKKS BBS9 BBS7 BBS4 BBS2 ARL6
3 protein localization to cilium GO:0061512 9.85 EHD1 BBS9 BBS4 BBS1 ARL6
4 protein localization GO:0008104 9.8 BBS7 BBS4 BBS2
5 melanosome transport GO:0032402 9.8 MKKS BBS7 BBS4 BBS2 ARL6
6 determination of left/right symmetry GO:0007368 9.79 MKKS BBS7 ARL6
7 cerebral cortex development GO:0021987 9.79 MKKS BBS4 BBS2
8 hippocampus development GO:0021766 9.78 MKKS BBS4 BBS2
9 leptin-mediated signaling pathway GO:0033210 9.78 MKKS LEP BBS4 BBS2
10 heart looping GO:0001947 9.77 MKKS BBS7 BBS4
11 retina homeostasis GO:0001895 9.77 BBS4 BBS10 BBS1
12 positive regulation of multicellular organism growth GO:0040018 9.76 MKKS BBS4 BBS2
13 brain morphogenesis GO:0048854 9.74 MKKS BBS4 BBS2
14 chaperone-mediated protein complex assembly GO:0051131 9.73 MKKS BBS12 BBS10
15 non-motile cilium assembly GO:1905515 9.73 MKKS BBS7 BBS4 BBS2 BBS10 BBS1
16 striatum development GO:0021756 9.72 MKKS BBS4 BBS2
17 response to leptin GO:0044321 9.71 MKKS BBS4 BBS2
18 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.69 MKKS BBS4 BBS2
19 adult behavior GO:0030534 9.67 BBS4 BBS2
20 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.67 MKKS LEP BBS4 BBS2
21 intracellular transport GO:0046907 9.66 MKKS BBS4
22 Golgi to plasma membrane protein transport GO:0043001 9.66 BBS2 BBS1
23 eating behavior GO:0042755 9.65 LEP BBS12
24 vasodilation GO:0042311 9.65 MKKS BBS2
25 protein localization to organelle GO:0033365 9.65 BBS4 BBS2
26 cell projection organization GO:0030030 9.65 WDPCP EHD1 CCDC28B BBS9 BBS7 BBS4
27 face development GO:0060324 9.64 MKKS BBS4
28 negative regulation of actin filament polymerization GO:0030837 9.64 MKKS BBS4
29 regulation of stress fiber assembly GO:0051492 9.63 MKKS BBS4
30 artery smooth muscle contraction GO:0014824 9.63 MKKS BBS2
31 photoreceptor cell maintenance GO:0045494 9.63 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
32 pigment granule aggregation in cell center GO:0051877 9.58 MKKS BBS7
33 cilium assembly GO:0060271 9.36 WDPCP MKKS EHD1 CCDC28B BBS9 BBS7
34 protein transport GO:0015031 10.13 EHD1 BBS9 BBS7 BBS4 BBS2 BBS1
35 response to stimulus GO:0050896 10.1 MKKS BBS9 BBS7 BBS4 BBS2 BBS10

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 9.86 ZDHHC24 PDCD4 MKKS LZTFL1 KIF7 EHD1
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.1 MKKS BBS7 BBS4 BBS2 BBS10 BBS1
Sources

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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