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BBS1
MCID: BRD010
MIFTS: 58

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

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
digenic recessive

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


HPO:

33
bardet-biedl syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

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


Sources

Summaries for Bardet-Biedl Syndrome 1

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

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

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

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

UniProtKB/Swiss-Prot : 76 Bardet-Biedl syndrome: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

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

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Related Diseases for Bardet-Biedl Syndrome 1

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Diseases in the Bardet-Biedl Syndrome family:

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

Diseases related to Bardet-Biedl Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 292)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 16 32.8 BBS1 CCDC28B
2 nonsyndromic retinitis pigmentosa 32.5 BBS1 BBS2
3 bardet-biedl syndrome 4 32.2 BBS1 BBS2 BBS4
4 bardet-biedl syndrome 14 32.2 BBS1 BBS10 BBS2 BBS9
5 bardet-biedl syndrome 13 31.7 BBS1 BBS10 BBS2 BBS4 CCDC28B
6 alstrom syndrome 31.6 BBS1 BBS2 LEP
7 bardet-biedl syndrome 18 31.6 BBIP1 BBS1 BBS2 BBS4 BBS7
8 bardet-biedl syndrome 19 31.6 BBS10 BBS2
9 bardet-biedl syndrome 6 31.5 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
10 bardet-biedl syndrome 3 31.4 ARL6 BBS1 BBS2 BBS4 BBS9 BBS7
11 bardet-biedl syndrome 8 31.3 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS7
12 bardet-biedl syndrome 17 31.2 LZTFL1 BBS9 BBS7 BBS4 BBS2 BBS1
13 retinitis pigmentosa 31.2 ARL6 BBS1 BBS10 BBS2 BBS4 MKKS
14 bardet-biedl syndrome 15 31.1 BBS2 BBS4 MKKS
15 mckusick-kaufman syndrome 31.0 MKKS BBS7 BBS4 BBS2 BBS1
16 polydactyly 30.9 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
17 fundus dystrophy 30.9 BBS1 BBS10 BBS2 BBS4 MKKS
18 body mass index quantitative trait locus 11 30.6 BBS1 BBS2 BBS4 LEP MKKS
19 tetralogy of fallot 30.6 BBS4 BBS7 MKKS
20 bardet-biedl syndrome 26.5 ZDHHC24 MKKS LZTFL1 LEP KIF7 IQCC
21 vaginal atresia 11.7
22 laurence-moon syndrome 11.5
23 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.5
24 nephronophthisis 7 11.4
25 biemond syndrome 11.4
26 nijmegen breakage syndrome 11.1
27 bardet-biedl syndrome 5 11.0
28 bardet-biedl syndrome 7 11.0
29 bardet-biedl syndrome 9 11.0
30 bardet-biedl syndrome 20 11.0
31 bardet-biedl syndrome 21 11.0
32 meckel syndrome, type 1 11.0
33 physical disorder 11.0
34 bardet-biedl syndrome 2 10.6
35 bardet-biedl syndrome 10 10.6
36 bardet-biedl syndrome 11 10.6
37 bardet-biedl syndrome 12 10.6
38 situs inversus 10.6
39 diabetes mellitus 10.5
40 kidney disease 10.5
41 retinal degeneration 10.5
42 hirschsprung disease 1 10.4
43 chronic kidney failure 10.4
44 tropical calcific pancreatitis 10.3
45 lymphopenia 10.2
46 neuropathy 10.2
47 renal cell carcinoma, nonpapillary 10.2
48 thrombocytopenic purpura, autoimmune 10.2
49 autism 10.2
50 cystinuria 10.2

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



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

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Human phenotypes related to Bardet-Biedl Syndrome 1:

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

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

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

Skeletal Hands:
brachydactyly
polydactyly, usually postaxial (major)

Abdomen Gastrointestinal:
hirschsprung disease (rare)

Genitourinary External Genitalia Male:
hypogonadism (major)
hypogenitalism

Skeletal Feet:
polydactyly (major)

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

Head And Neck Mouth:
high arched palate

Abdomen Liver:
hepatic fibrosis (rare)

Genitourinary Kidneys:
renal anomalies (major)

Clinical features from OMIM:

209900

UMLS symptoms related to Bardet-Biedl Syndrome 1:


ataxia

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 1:

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

Drugs & Therapeutics for Bardet-Biedl Syndrome 1

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 3,Phase 2
2 alpha-MSH Phase 3,Phase 2 581-05-5
3 Hormone Antagonists Phase 3,Phase 2
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
5
Metformin Approved Phase 2 657-24-9 14219 4091
6 Hypoglycemic Agents Phase 2
7 Liver Extracts
8 insulin
9 Insulin, Globin Zinc

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
2 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
3 Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement Not yet recruiting NCT03490019 Phase 2 Metformin
4 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
5 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
6 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
7 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989
8 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
9 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
10 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
11 Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Terminated NCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome 1

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Genetic Tests for Bardet-Biedl Syndrome 1

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Genetic tests related to Bardet-Biedl Syndrome 1:

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

Anatomical Context for Bardet-Biedl Syndrome 1

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

42
Kidney, Heart, Liver, Ovary, Retina
Sources

Publications for Bardet-Biedl Syndrome 1

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Articles related to Bardet-Biedl Syndrome 1:

# Title Authors Year
1
Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. ( 30142598 )
2018
2
BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex. ( 29590217 )
2018
3
The Leishmania major BBSome subunit BBS1 is essential for parasite virulence in the mammalian host. ( 23998526 )
2013
4
A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish. ( 24069149 )
2013
5
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. ( 18032602 )
2007
6
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. ( 17065520 )
2006
7
Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval. ( 15517396 )
2005
8
Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population. ( 14993910 )
2004
9
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. ( 10577921 )
1999
10
Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1). ( 10564830 )
1999
Sources

Variations for Bardet-Biedl Syndrome 1

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

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

ClinVar genetic disease variations for Bardet-Biedl Syndrome 1:

6 (show top 50) (show all 247)
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS12 NM_152618.2(BBS12): c.1157G> A (p.Arg386Gln) single nucleotide variant Benign rs309370 GRCh37 Chromosome 4, 123664204: 123664204
2 BBS12 NM_152618.2(BBS12): c.1157G> A (p.Arg386Gln) single nucleotide variant Benign rs309370 GRCh38 Chromosome 4, 122743049: 122743049
3 BBS12 NM_152618.2(BBS12): c.1399G> A (p.Asp467Asn) single nucleotide variant Benign/Likely benign rs13135778 GRCh37 Chromosome 4, 123664446: 123664446
4 BBS12 NM_152618.2(BBS12): c.1399G> A (p.Asp467Asn) single nucleotide variant Benign/Likely benign rs13135778 GRCh38 Chromosome 4, 122743291: 122743291
5 BBS9 NM_198428.2(BBS9): c.1993C> T (p.Leu665Phe) single nucleotide variant Benign/Likely benign rs116262072 GRCh37 Chromosome 7, 33427634: 33427634
6 BBS9 NM_198428.2(BBS9): c.1993C> T (p.Leu665Phe) single nucleotide variant Benign/Likely benign rs116262072 GRCh38 Chromosome 7, 33388022: 33388022
7 BBS12 NM_152618.2(BBS12): c.1380G> C (p.Val460=) single nucleotide variant Benign/Likely benign rs13135766 GRCh37 Chromosome 4, 123664427: 123664427
8 BBS12 NM_152618.2(BBS12): c.1380G> C (p.Val460=) single nucleotide variant Benign/Likely benign rs13135766 GRCh38 Chromosome 4, 122743272: 122743272
9 BBS12 NM_152618.2(BBS12): c.1410C> T (p.Cys470=) single nucleotide variant Benign/Likely benign rs13135445 GRCh37 Chromosome 4, 123664457: 123664457
10 BBS12 NM_152618.2(BBS12): c.1410C> T (p.Cys470=) single nucleotide variant Benign/Likely benign rs13135445 GRCh38 Chromosome 4, 122743302: 122743302
11 BBS12 NM_152618.2(BBS12): c.1872A> G (p.Gln624=) single nucleotide variant Benign/Likely benign rs13102440 GRCh37 Chromosome 4, 123664919: 123664919
12 BBS12 NM_152618.2(BBS12): c.1872A> G (p.Gln624=) single nucleotide variant Benign/Likely benign rs13102440 GRCh38 Chromosome 4, 122743764: 122743764
13 BBS4 NM_033028.4(BBS4): c.76+19G> T single nucleotide variant Benign rs4777527 GRCh37 Chromosome 15, 72987588: 72987588
14 BBS4 NM_033028.4(BBS4): c.76+19G> T single nucleotide variant Benign rs4777527 GRCh38 Chromosome 15, 72695247: 72695247
15 BBS7 NM_176824.2(BBS7): c.1512-7A> T single nucleotide variant Benign/Likely benign rs115987385 GRCh37 Chromosome 4, 122754557: 122754557
16 BBS7 NM_176824.2(BBS7): c.1512-7A> T single nucleotide variant Benign/Likely benign rs115987385 GRCh38 Chromosome 4, 121833402: 121833402
17 BBS1 NM_024649.4(BBS1): c.24T> C (p.Asp8=) single nucleotide variant Benign/Likely benign rs55848325 GRCh37 Chromosome 11, 66278154: 66278154
18 BBS1 NM_024649.4(BBS1): c.24T> C (p.Asp8=) single nucleotide variant Benign/Likely benign rs55848325 GRCh38 Chromosome 11, 66510683: 66510683
19 BBS2 NM_031885.3(BBS2): c.1422G> A (p.Ser474=) single nucleotide variant Conflicting interpretations of pathogenicity rs117033008 GRCh37 Chromosome 16, 56533795: 56533795
20 BBS2 NM_031885.3(BBS2): c.1422G> A (p.Ser474=) single nucleotide variant Conflicting interpretations of pathogenicity rs117033008 GRCh38 Chromosome 16, 56499883: 56499883
21 BBS1 NM_024649.4(BBS1): c.1349G> A (p.Arg450Gln) single nucleotide variant Benign/Likely benign rs77298332 GRCh37 Chromosome 11, 66297299: 66297299
22 BBS1 NM_024649.4(BBS1): c.1349G> A (p.Arg450Gln) single nucleotide variant Benign/Likely benign rs77298332 GRCh38 Chromosome 11, 66529828: 66529828
23 BBS9 NM_198428.2(BBS9): c.1648A> G (p.Ile550Val) single nucleotide variant Benign/Likely benign rs150399299 GRCh37 Chromosome 7, 33397562: 33397562
24 BBS9 NM_198428.2(BBS9): c.1648A> G (p.Ile550Val) single nucleotide variant Benign/Likely benign rs150399299 GRCh38 Chromosome 7, 33357950: 33357950
25 BBS12 NM_152618.2(BBS12): c.1286G> C (p.Ser429Thr) single nucleotide variant Benign/Likely benign rs7665271 GRCh37 Chromosome 4, 123664333: 123664333
26 BBS12 NM_152618.2(BBS12): c.1286G> C (p.Ser429Thr) single nucleotide variant Benign/Likely benign rs7665271 GRCh38 Chromosome 4, 122743178: 122743178
27 BBS4 NM_033028.4(BBS4): c.137A> G (p.Lys46Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs75295839 GRCh37 Chromosome 15, 73002101: 73002101
28 BBS4 NM_033028.4(BBS4): c.137A> G (p.Lys46Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs75295839 GRCh38 Chromosome 15, 72709760: 72709760
29 BBS9 NM_198428.2(BBS9): c.2216C> T (p.Ala739Val) single nucleotide variant Benign/Likely benign rs116483694 GRCh38 Chromosome 7, 33505563: 33505563
30 BBS9 NM_198428.2(BBS9): c.2216C> T (p.Ala739Val) single nucleotide variant Benign/Likely benign rs116483694 GRCh37 Chromosome 7, 33545175: 33545175
31 BBS1 NM_024649.4(BBS1): c.1139G> A (p.Arg380Gln) single nucleotide variant Uncertain significance rs758139447 GRCh38 Chromosome 11, 66526151: 66526151
32 BBS1 NM_024649.4(BBS1): c.1139G> A (p.Arg380Gln) single nucleotide variant Uncertain significance rs758139447 GRCh37 Chromosome 11, 66293622: 66293622
33 BBS1 NM_024649.4(BBS1): c.48-3C> G single nucleotide variant Pathogenic rs869025204 GRCh37 Chromosome 11, 66278481: 66278481
34 BBS1 NM_024649.4(BBS1): c.48-3C> G single nucleotide variant Pathogenic rs869025204 GRCh38 Chromosome 11, 66511010: 66511010
35 BBS1 NM_024649.4(BBS1): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs869025205 GRCh37 Chromosome 11, 66291255: 66291255
36 BBS1 NM_024649.4(BBS1): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs869025205 GRCh38 Chromosome 11, 66523784: 66523784
37 WDPCP NM_015910.6(WDPCP): c.2063A> G (p.Asn688Ser) single nucleotide variant Benign/Likely benign rs61734468 GRCh37 Chromosome 2, 63401820: 63401820
38 WDPCP NM_015910.6(WDPCP): c.2063A> G (p.Asn688Ser) single nucleotide variant Benign/Likely benign rs61734468 GRCh38 Chromosome 2, 63174685: 63174685
39 CCDC28B NM_024296.4(CCDC28B): c.330C> T (p.Phe110=) single nucleotide variant risk factor rs41263993 GRCh37 Chromosome 1, 32669645: 32669645
40 CCDC28B NM_024296.4(CCDC28B): c.330C> T (p.Phe110=) single nucleotide variant risk factor rs41263993 GRCh38 Chromosome 1, 32204044: 32204044
41 BBS10 NM_024685.4(BBS10): c.271dup (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh38 Chromosome 12, 76347714: 76347714
42 BBS10 NM_024685.4(BBS10): c.271dup (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh37 Chromosome 12, 76741494: 76741494
43 ARL6 NM_032146.5(ARL6): c.506G> C (p.Gly169Ala) single nucleotide variant Pathogenic,risk factor rs104893679 GRCh37 Chromosome 3, 97510641: 97510641
44 ARL6 NM_032146.5(ARL6): c.506G> C (p.Gly169Ala) single nucleotide variant Pathogenic,risk factor rs104893679 GRCh38 Chromosome 3, 97791797: 97791797
45 BBS9 NM_198428.2(BBS9): c.1877_1880delAACA (p.Lys626Argfs) deletion Pathogenic rs606231137 GRCh38 Chromosome 7, 33383753: 33383756
46 BBS9 NM_198428.2(BBS9): c.1877_1880delAACA (p.Lys626Argfs) deletion Pathogenic rs606231137 GRCh37 Chromosome 7, 33423365: 33423368
47 MKKS NM_170784.2(MKKS): c.973A> C (p.Thr325Pro) single nucleotide variant risk factor rs137853156 GRCh37 Chromosome 20, 10393190: 10393190
48 MKKS NM_170784.2(MKKS): c.973A> C (p.Thr325Pro) single nucleotide variant risk factor rs137853156 GRCh38 Chromosome 20, 10412542: 10412542
49 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
50 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh38 Chromosome 11, 66526181: 66526181
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Expression for Bardet-Biedl Syndrome 1

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

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

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

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

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

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

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

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

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

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