Bardet-Biedl Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BBS MCID: BRD002 MIFTS: 67	Bardet-Biedl Syndrome (BBS) Categories: Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Bardet-Biedl Syndrome

MalaCards integrated aliases for Bardet-Biedl Syndrome:

Name: Bardet-Biedl Syndrome ¹¹ ²⁴ ¹⁹ ⁴² ⁵⁸ ⁷⁵ ²⁸ ⁵³ ⁵ ⁴³ ¹⁴ ³⁸ ⁷¹

Bbs ¹⁹ ⁴² ⁵⁸

Biedl-Bardet Syndrome ¹⁹

Characteristics:

Inheritance:

Autosomal recessive,Oligogenic ⁵⁸

Prevelance:

1-9/100000 (Specific population, United States) 1-9/1000000 (Europe, Tunisia) ⁵⁸

Age Of Onset:

Antenatal,Childhood,Infancy,Neonatal ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Nephrological diseases Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Rare gastroenterological diseases

Rare renal diseases

Rare infertility disorders

Rare gynaecological and obstetric diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

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Summaries for Bardet-Biedl Syndrome

MedlinePlus Genetics: ⁴² Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood.Obesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia).Other major signs and symptoms of Bardet-Biedl syndrome include the presence of extra fingers or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. Most affected males produce reduced amounts of sex hormones (hypogonadism), and they are usually unable to father biological children (infertile). Many people with Bardet-Biedl syndrome also have kidney abnormalities, which can be serious or life-threatening.Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination. Distinctive facial features, dental abnormalities, unusually short or fused fingers or toes, and a partial or complete loss of the sense of smell (anosmia) have also been reported in some people with Bardet-Biedl syndrome. Additionally, this condition can affect the heart, liver, and digestive system.

MalaCards based summary: Bardet-Biedl Syndrome, also known as bbs, is related to bardet-biedl syndrome 11 and bardet-biedl syndrome 1. An important gene associated with Bardet-Biedl Syndrome is BBS1 (Bardet-Biedl Syndrome 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. The drugs Pharmaceutical Solutions and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and retina, and related phenotypes are intellectual disability and abnormal electroretinogram

GARD: ¹⁹ 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. Genetic changes in many genes are known to cause Bardet-Biedl syndrome and inheritance is usually autosomal recessive.

Disease Ontology: ¹¹ A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.

Orphanet: ⁵⁸ A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.

Wikipedia: ⁷⁵ Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

GeneReviews: NBK1363

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Related Diseases for Bardet-Biedl Syndrome

Diseases in the Bardet-Biedl Syndrome family:

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

(show top 50) (show all 433)

#	Related Disease	Score	Top Affiliating Genes
1	bardet-biedl syndrome 11	34.5	WDPCP TTC8 TRIM32 SDCCAG8 MKKS IFT27
2	bardet-biedl syndrome 1	34.5	ZDHHC24 NPHP1 MKKS BBS9 BBS7 BBS5
3	bardet-biedl syndrome 19	34.2	WDPCP TTC8 SDCCAG8 IFT27 BBS9 BBS7
4	bardet-biedl syndrome 18	34.2	WDPCP TTC8 MKKS IFT27 BBS9 BBS7
5	bardet-biedl syndrome 10	34.2	BBS4 BBS12 BBS10 BBS1
6	bardet-biedl syndrome 6	34.0	MKKS IFT27 BBS7 BBS5 BBS4 BBS1
7	bardet-biedl syndrome 17	34.0	IFT27 BBS9 BBS7 BBS2 BBS12 BBS10
8	bardet-biedl syndrome 3	34.0	BBS7 BBS5 BBS10 BBS1 ARL6
9	bardet-biedl syndrome 4	34.0	TTC8 CEP290 BBS7 BBS4
10	bardet-biedl syndrome 14	34.0	CEP290 BBS7 BBS2 BBS12 BBS10 BBS1
11	bardet-biedl syndrome 12	33.9	BBS12 BBS10
12	mckusick-kaufman syndrome	33.7	TTC8 MKKS CEP290 BBS9 BBS7 BBS5
13	bardet-biedl syndrome 13	33.7	MKKS BBS2
14	retinitis pigmentosa	33.7	ZDHHC24 WDPCP TTC8 TRIM32 SDCCAG8 NPHP1
15	bardet-biedl syndrome 15	33.6	WDPCP BBS12
16	polydactyly	33.4	WDPCP TTC8 TRIM32 SDCCAG8 MKKS IFT27
17	laurence-moon syndrome	33.1	TTC8 BBS9 BBS7 BBS5 BBS10 BBS1
18	fundus dystrophy	32.9	ZDHHC24 WDPCP TTC8 TRIM32 SDCCAG8 NPHP1
19	cone dystrophy	32.7	WDPCP TTC8 SDCCAG8 MKKS CEP290 BBS9
20	cone-rod dystrophy 2	32.5	ZDHHC24 WDPCP TTC8 SDCCAG8 NPHP1 MKKS
21	retinal degeneration	32.4	NPHP1 MKKS CEP290 BBS7 BBS4 BBS10
22	chromosome 2q35 duplication syndrome	32.3	TTC8 MKKS BBS9 BBS7 BBS5 BBS4
23	nephronophthisis	32.2	WDPCP TTC8 SDCCAG8 NPHP1 MKKS IFT27
24	meckel syndrome, type 1	32.2	WDPCP TTC8 SDCCAG8 NPHP1 MKKS IFT27
25	joubert syndrome 1	32.1	WDPCP TTC8 SDCCAG8 NPHP1 MKKS IFT27
26	late-onset retinal degeneration	32.0	TTC8 SDCCAG8 CEP290
27	cystic kidney disease	31.9	NPHP1 IFT27 CEP290 BBS7 BBS4 BBS2
28	heart disease	31.8	WDPCP TRIM32 SDCCAG8 MKKS IFT27 CEP290
29	visceral heterotaxy	31.7	SDCCAG8 NPHP1 IFT27 CEP290 BBS9 BBS7
30	situs inversus	31.6	NPHP1 CEP290 BBS5 BBS4 BBS2 BBS1
31	polycystic kidney disease	31.6	NPHP1 MKKS IFT27 CEP290 BBS7 BBS5
32	leber plus disease	31.6	ZDHHC24 TTC8 SDCCAG8 NPHP1 MKKS CEP290
33	primary ciliary dyskinesia	31.5	SDCCAG8 NPHP1 IFT27 CEP290 BBS9 BBS7
34	eye disease	31.4	SDCCAG8 NPHP1 CEP290 BBS9 BBS1 ARL6
35	senior-loken syndrome 1	31.3	SDCCAG8 NPHP1 CEP290 BBS5 BBS4 BBS2
36	autosomal dominant polycystic kidney disease	31.1	NPHP1 IFT27 CEP290 BBS5 BBS4 BBS1
37	usher syndrome	31.1	ZDHHC24 TTC8 CEP290 BBS5 BBS2 BBS12
38	retinitis pigmentosa 74	31.1	TTC8 BBS2
39	orofaciodigital syndrome	30.9	WDPCP CEP290 BBS4
40	juvenile nephronophthisis	30.9	NPHP1 MKKS CEP290
41	nephronophthisis 15	30.8	BBS9 BBS5
42	bardet-biedl syndrome 2	12.1
43	bardet-biedl syndrome 7	12.0
44	bardet-biedl syndrome 9	12.0
45	bardet-biedl syndrome 5	12.0
46	bardet-biedl syndrome 8	12.0
47	bardet-biedl syndrome 22	11.9
48	bardet-biedl syndrome 16	11.9
49	bardet-biedl syndrome 20	11.9
50	bardet-biedl syndrome 21	11.9

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

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Symptoms & Phenotypes for Bardet-Biedl Syndrome

Human phenotypes related to Bardet-Biedl Syndrome:

⁵⁸ ³⁰ (show all 25)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	abnormal electroretinogram ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000512
3	obesity ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001513
4	multicystic kidney dysplasia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000003
5	postaxial hand polydactyly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001162
6	pigmentary retinopathy ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000580
7	nystagmus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000639
8	hypertension ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000822
9	short stature ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004322
10	hypoplasia of penis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0008736
11	hypogonadism ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000135
12	hypoplasia of the ovary ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0008724
13	neurological speech impairment ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002167
14	short neck ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000470
15	hearing impairment ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000365
16	skeletal muscle atrophy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003202
17	cryptorchidism ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000028
18	hepatic fibrosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001395
19	nephrotic syndrome ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000100
20	downslanted palpebral fissures ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000494
21	low-set, posteriorly rotated ears ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000368
22	generalized hirsutism ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002230
23	prominent nasal bridge ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000426
24	finger syndactyly ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0006101
25	medial flaring of the eyebrow ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0010747

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

⁴⁵ (show all 14)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.49	ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
2	growth/size/body region	MP:0005378	10.41	ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
3	homeostasis/metabolism	MP:0005376	10.32	BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
4	renal/urinary system	MP:0005367	10.3	BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
5	cellular	MP:0005384	10.28	ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
6	limbs/digits/tail	MP:0005371	10.21	BBS1 BBS2 BBS5 BBS7 BBS9 IFT27
7	craniofacial	MP:0005382	10.21	ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
8	adipose tissue	MP:0005375	10.15	ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
9	behavior/neurological	MP:0005386	10.1	ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
10	cardiovascular system	MP:0005385	10.07	ARL6 BBS1 BBS4 BBS5 BBS7 CEP290
11	reproductive system	MP:0005389	9.93	ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
12	respiratory system	MP:0005388	9.91	BBS1 BBS2 BBS4 BBS5 CEP290 IFT27
13	vision/eye	MP:0005391	9.86	ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
14	taste/olfaction	MP:0005394	9.17	BBS1 BBS2 BBS4 BBS7 CEP290 MKKS

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Drugs & Therapeutics for Bardet-Biedl Syndrome

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

(show all 7)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Pharmaceutical Solutions

Phase 3

alpha-MSH

Phase 3

581-05-5

Hormones

Phase 3

Hormone Antagonists

Phase 3

Anesthetics

Insulin, Globin Zinc

Insulin

Interventional clinical trials:

(show all 14)

#	Name	Status	NCT ID	Phase	Drugs
1	A Phase 3 Trial of Setmelanotide (RM-493), a Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity	Completed	NCT03746522	Phase 3	Setmelanotide;Placebos
2	A Phase 3 Multi-Center, One-Year, Open-Label Study of Setmelanotide in Pediatric Patients Aged 2 to <6 Years of Age With Rare Genetic Causes of Obesity	Active, not recruiting	NCT04966741	Phase 3	Setmelanotide
3	A Phase 3, Randomized, Double-Blind Trial of Two Formulations of Setmelanotide (Daily and Weekly) With a Crossover to Open-Label Once Weekly Setmelanotide in Patients With Specific Gene Defects in the Melanocortin-4 Receptor Pathway Who Are Currently on a Stable Dose of the Once Daily Formulation	Enrolling by invitation	NCT05194124	Phase 3	Setmelanotide 20mg weekly;Placebo daily;Setmelanotide 30mg weekly;Setmelanotide 2mg daily;Setmelanotide 3mg daily;Placebo weekly
4	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
5	An Expanded Access Protocol for Setmelanotide for Treatment of Bardet-Biedl Syndrome (BBS)	Approved for marketing	NCT05183802		Setmelanotide, administered subcutaneously [SC], once daily.
6	Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults	Completed	NCT00213811
7	Clinical Registry Investigating Bardet-Biedl Syndrome	Recruiting	NCT02329210
8	COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique	Recruiting	NCT04461444
9	GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age	Recruiting	NCT04463316
10	Foundation Fighting Blindness My Retina Tracker Registry	Recruiting	NCT02435940
11	Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis	Recruiting	NCT04874909
12	Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC))	Recruiting	NCT01401998
13	Characterizing the Genotype, Phenotype, Health Issues, and Quality of Life in Adults With Bardet-Biedl Syndrome	Enrolling by invitation	NCT05400278
14	Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics	Terminated	NCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome

Cochrane evidence based reviews: bardet-biedl syndrome

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Genetic Tests for Bardet-Biedl Syndrome

Genetic tests related to Bardet-Biedl Syndrome:

#	Genetic test	Affiliating Genes
1	Bardet-Biedl Syndrome ²⁸	BBS1 BBS4 MKKS SDCCAG8

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Anatomical Context for Bardet-Biedl Syndrome

Organs/tissues related to Bardet-Biedl Syndrome:

MalaCards : Eye, Kidney, Retina, Liver, Heart, Ovary, Skeletal Muscle

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Publications for Bardet-Biedl Syndrome

Articles related to Bardet-Biedl Syndrome:

(show top 50) (show all 1328)

#	Title	Authors	PMID	Year
1	High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. ⁶² ²⁴ ⁵	Gouronc A...Muller J	32361989	2020
2	Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study. ⁶² ²⁴ ⁵	Manara E...Bertelli M	31196119	2019
3	Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. ⁶² ²⁴ ⁵	Mary L...Muller J	30614526	2019
4	Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. ⁶² ²⁴ ⁵	Schaefer E...Muller J	30761183	2019
5	Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. ⁶² ²⁴ ⁵	Yildiz Bolukbasi E...Tolun A	29127258	2018
6	Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. ⁶² ²⁴ ⁵	Forsythe E...Beales PL	27659767	2017
7	Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. ⁶² ²⁴ ⁵	Lindstrand A...Katsanis N	27486776	2016
8	Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. ⁶² ²⁴ ⁵	Kerr EN...Heon E	25988237	2016
9	Evaluation of visual function and needs in adult patients with bardet-biedl syndrome. ⁶² ²⁴ ⁵	Denniston AK...Tsaloumas MD	25170860	2014
10	Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. ⁶² ²⁴ ⁵	Xing DJ...Jin ZB	24608809	2014
11	Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. ⁶² ²⁴ ⁵	Bennouna-Greene V...Dollfus H	21517826	2011
12	BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. ⁶² ²⁴ ⁵	Deveault C...Heon E	21344540	2011
13	Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. ⁶² ²⁴ ⁵	Fan Y...Leroux MR	15314642	2004
14	Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. ²⁴ ⁵	Stone EM...Tucker BA	28559085	2017
15	Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. ²⁴ ⁵	Kim SK...Wallingford JB	20671153	2010
16	New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. ⁵³ ⁶² ⁵	Pereiro I...Nishimura D	20142850	2010
17	Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. ⁵³ ⁶² ⁵	Cannon PS...Lloyd IC	18766993	2008
18	Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. ⁵³ ⁶² ⁵	Azari AA...Jacobson SG	17065520	2006
19	BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. ⁵³ ⁶² ⁵	Stoetzel C...Dollfus H	16308660	2006
20	Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. ⁵³ ⁶² ⁵	Beales PL...Katsanis N	12677556	2003
21	Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. ⁵³ ⁶² ⁵	Badano JL...Katsanis N	12567324	2003
22	Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. ⁵³ ⁶² ⁵	Mykytyn K...Sheffield VC	12118255	2002
23	Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). ⁵³ ⁶² ⁵	Nishimura DY...Sheffield VC	11285252	2001
24	Kidney failure in Bardet-Biedl syndrome. ⁶² ⁵	Meyer JR...Haws RM	35112343	2022
25	Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10. ⁶² ⁵	Grudzinska Pechhacker MK...Heon E	34940782	2021
26	Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation. ⁶² ⁵	Zacchia M...Capasso G	33964006	2021
27	Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh. ⁶² ⁵	Akter H...Uddin M	33594065	2021
28	A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome. ⁶² ⁵	Delvallee C...Muller J	33169370	2021
29	A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico. ⁶² ⁵	Guardiola GA...Oliver AL	34526762	2021
30	Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort. ⁶² ⁵	Meng X...Li S	33777945	2021
31	BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. ⁶² ⁵	Hey CAB...Moller LB	33572860	2021
32	Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance. ⁶² ⁵	Jeziorny K...Zmyslowska A	33138063	2020
33	Bardet-Biedl syndrome and related disorders in Japan. ⁶² ⁵	Hirano M...Toda T	32451492	2020
34	Deletion in the Bardet-Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs. ⁶² ⁵	Makelainen S...Bergstrom TF	32962042	2020
35	Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease. ⁶² ⁵	Jiman OA...Black GC	31836858	2020
36	Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. ⁶² ⁵	Dan H...Shen Y	31960602	2020
37	Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome. ⁶² ⁵	Chakrabarty S...Satyamoorthy K	31639430	2020
38	Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant. ⁶² ⁵	Hey CAB...Moller LB	31760295	2019
39	Altered myogenesis and premature senescence underlie human TRIM32-related myopathy. ⁶² ⁵	Servian-Morilla E...Paradas C	30823891	2019
40	A novel compound heterozygous mutation in TTC8 identified in a Japanese patient. ⁶² ⁵	Sato S...Nishida K	30886724	2019
41	Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. ⁶² ⁵	Chandrasekar SP...Sarangapani S	29806606	2018
42	Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. ⁶² ⁵	Qi Z...Wang H	28624958	2017
43	Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. ⁶² ⁵	Scott CA...Slusarski DC	28753627	2017
44	Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts. ⁶² ⁵	Chen JH...Semple RK	28717663	2017
45	Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. ⁶² ⁵	Esposito G...Salvatore F	28143435	2017
46	A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. ⁶² ⁵	Ohto T...Kosaki K	28808579	2017
47	Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. ⁶² ⁵	Ullah A...Ahmad W	28761321	2017
48	Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. ⁶² ⁵	Castro-Sanchez S...Valverde D	28800606	2017
49	Characterizing the morbid genome of ciliopathies. ⁶² ⁵	Shaheen R...Alkuraya FS	27894351	2016
50	Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. ⁶² ⁵	Maria M...Qamar R	27708425	2016

Sources

Genes for Bardet-Biedl Syndrome

Genes related to Bardet-Biedl Syndrome (28 elite genes):

(show top 50) (show all 190)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	960.15	Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins Pathways & Interactions (show sections)	9536098 12118255 12524598 (more) 12677556 12837689 12872256 12920096 15314642 15770229 16199547 16327777 17065520 17576681 17980398 18032602 18327255 18669544 18766993 19797195 20177705 20498079 20876674 21052717 21344540 21517826 21520335 21642631 22410627 22581970 22773737 22940089 23143442 23432027 23559858 24746959 25074776 25170860 26261414 26518167 27032803 27624628 27659767 28224992 28341476 28559085 29588463 30259503 30614526 30718709 31836858 32037395 32165824 32349990 32451492 33169370 33594065 34526762 19858128 25640679 27486776 27894351 29099798 32552793 20301537
2	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	959	Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins Pathways & Interactions (show sections)	11381270 12016587 16199547 (more) 19402160 20177705 27208204 27486776 27894351 30614526 15666242 30718709 20301537 12365916 15654695 15107855 18762586 15173597 15497446
3	MKKS	MKKS Centrosomal Shuttling Protein	Protein Coding	946.08	Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries Pathways & Interactions (show sections)	10802661 10973238 10973251 (more) 11179009 12107442 15731008 15770229 16104012 18094050 20080638 20142850 20177705 20226561 20498079 21209035 22446187 22500027 24400638 26900326 28753627 28761321 30614526 33138063 28624958 30718709 20301537 15772095
4	SDCCAG8	SHH Signaling And Ciliogenesis Regulator SDCCAG8	Protein Coding	920.83	Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Pathways & Interactions (show sections)	20835237 20301537
5	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	859.27	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins Pathways & Interactions (show sections)	11285252 11567139 12837689 (more) 12920096 15666242 15770229 16199547 16877420 16909204 19402160 19797195 20120035 20177705 20498079 21044901 21052717 21157496 21344540 21463199 21642631 22401627 22410627 23432027 23829372 24608809 25133751 25412400 25525159 25533962 25541840 25611614 25988237 25999675 26078953 26325687 26355662 26518167 27032803 27708425 27894351 28418496 28559085 28717663 28800606 29588463 30029678 30614526 30718709 31196119 31960602 32436246 33777945 9536098 11886943 17576681 22773737 27486776 31054281 20301537 20142850 16606853 12677556 16823392
6	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	858.3	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins Pathways & Interactions (show sections)	12567324 16199547 19402160 (more) 20498079 21209035 21642631 22500027 23572516 23847139 24726959 25553308 26003401 26325687 26518167 29970488 30614526 31196119 33777945 20177705 21520333 22302990 27486776 20301537 19093007
7	BBS10	Bardet-Biedl Syndrome 10	Protein Coding	846.96	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins Pathways & Interactions (show sections)	9536098 16582908 17106446 (more) 17576681 20177705 20472660 20498079 20805367 21044901 21052717 21157496 21209035 21344540 21642631 22410627 22773737 23591405 24611592 25366773 25412400 25982971 26003401 26273430 27385962 27486776 27533158 27659767 27788217 27894351 28143435 28808579 29261186 30614526 30718709 32361989 34940782 35112343 25439097 31639430 23219996 23403234 20301537
8	BBS5	Bardet-Biedl Syndrome 5	Protein Coding	845.96	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins Pathways & Interactions (show sections)	15137946 16199547 16877420 (more) 18203199 19367329 21052717 21344540 26325687 27708425 28041643 29806606 30614526 30718709 31760295 32641690 33572860 27486776 20301537
9	TTC8	Tetratricopeptide Repeat Domain 8	Protein Coding	845.44	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries Pathways & Interactions (show sections)	9536098 16308660 16877420 (more) 17576681 19797195 20177705 21044901 21052717 26401321 28914264 29030401 30886724 32962042 33138063 16199547 20301537
10	BBS12	Bardet-Biedl Syndrome 12	Protein Coding	845.15	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins Pathways & Interactions (show sections)	17160889 20080638 20142850 (more) 20472660 20498079 20827784 21344540 21463199 21642631 23591405 24611592 25170860 26489029 27659767 30614526 20301537
11	ARL6	ADP Ribosylation Factor Like GTPase 6	Protein Coding	832.67	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Pathways & Interactions (show sections)	20301537 22773737 27486776
12	WDPCP	WD Repeat Containing Planar Cell Polarity Effector	Protein Coding	831.57	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Pathways & Interactions (show sections)	20671153 25427950 27158779 (more) 16199547 20301537
13	BBS9	Bardet-Biedl Syndrome 9	Protein Coding	824.35	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Pathways & Interactions (show sections)	16380913 20177705 24849935 (more) 29970488 30614526 25640679 33964006 20301537
14	TRIM32	Tripartite Motif Containing 32	Protein Coding	810.94	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Pathways & Interactions (show sections)	11822024 15786463 21775502 (more) 23142638 23541687 25351777 30823891 20301537
15	IFT27	Intraflagellar Transport 27	Protein Coding	785.68	Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Pathways & Interactions (show sections)	30761183 24488770
16	CEP19	Centrosomal Protein 19	Protein Coding	772.3	Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)	29127258
17	NPHP1	Nephrocystin 1	Protein Coding	765.66	Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	27486776 24746959
18	ASTN2	Astrotactin 2	Protein Coding	428.55	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	11822024 15786463 21775502 (more) 23142638 23541687 25351777 30823891
19	ZDHHC24	Zinc Finger DHHC-Type Containing 24	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	9536098 12118255 12524598 (more) 12677556 12837689 12920096 15314642 15770229 16199547 16327777 17065520 17576681 17980398 18032602 18669544 18766993 20177705 20498079 20876674 21344540 21517826 21642631 22410627 22581970 22773737 22940089 23143442 24746959 25074776 25170860 26518167 27032803 27624628 27659767 28224992 28341476 28559085 30259503 30614526 30718709 31836858 32165824 32349990 32451492 33594065 19858128 27486776 27894351 32552793
20	CEP290	Centrosomal Protein 290	Protein Coding	421.87	Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Pathways & Interactions (show sections)	20301537
21	IFT74	Intraflagellar Transport 74	Protein Coding	421.06	Causative germline mutation (loss of function) ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions (show sections)	27486776
22	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	420.78	Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions (show sections)	18327255 20301537
23	IFT172	Intraflagellar Transport 172	Protein Coding	410.11	Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Pathways & Interactions (show sections)	25168386 24140113
24	CACNG2-DT	CACNG2 Divergent Transcript	RNA Gene	400	Pathogenic ⁵	30761183
25	LZTFL1	Leucine Zipper Transcription Factor Like 1	Protein Coding	396.67	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions (show sections)	22510444 20301537
26	BBIP1	BBSome Interacting Protein 1	Protein Coding	396.61	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries Pathways & Interactions (show sections)	24026985 20301537
27	CFAP418	Cilia And Flagella Associated Protein 418	Protein Coding	395.86	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Pathways & Interactions (show sections)	27008867
28	SCAPER	S-Phase Cyclin A Associated Protein In The ER	Protein Coding	362.89	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	30723319
29	TMEM67	Transmembrane Protein 67	Protein Coding	60.13	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Pathways & Interactions (show sections)	16415887
30	NPHP4	Nephrocystin 4	Protein Coding	39.1	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	27486776
31	CCDC28B	Coiled-Coil Domain Containing 28B	Protein Coding	36.56	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
32	ALMS1	ALMS1 Centrosome And Basal Body Associated Protein	Protein Coding	32.62	Likely pathogenic ⁵ DISEASES inferred ¹⁴	27486776
33	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	32.44	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Pathways & Interactions (show sections)
34	TRAPPC3	Trafficking Protein Particle Complex Subunit 3	Protein Coding	28.14	Likely pathogenic ⁵ DISEASES inferred ¹⁴
35	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	24.3	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
36	INVS	Inversin	Protein Coding	23.28	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Pathways & Interactions (show sections)	17429050
37	PKD1	Polycystin 1, Transient Receptor Potential Channel Interacting	Protein Coding	23.17	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
38	SCLT1	Sodium Channel And Clathrin Linker 1	Protein Coding	23.05	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
39	KIF7	Kinesin Family Member 7	Protein Coding	23.04	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Pathways & Interactions (show sections)
40	MYO9A	Myosin IXA	Protein Coding	22.83	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
41	IFT81	Intraflagellar Transport 81	Protein Coding	22.55	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
42	CEP164	Centrosomal Protein 164	Protein Coding	22.48	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
43	IFT57	Intraflagellar Transport 57	Protein Coding	22.22	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
44	INPP5E	Inositol Polyphosphate-5-Phosphatase E	Protein Coding	22.16	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Pathways & Interactions (show sections)
45	RPGRIP1L	RPGRIP1 Like	Protein Coding	15.29	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
46	PCM1	Pericentriolar Material 1	Protein Coding	15.18	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
47	IQCB1	IQ Motif Containing B1	Protein Coding	14.94	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
48	USH2A	Usherin	Protein Coding	14.72	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
49	IFT25	Intraflagellar Transport 25	Protein Coding	14.16	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
50	NPHP3	Nephrocystin 3	Protein Coding	14.1	DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)

Sources

Variations for Bardet-Biedl Syndrome

ClinVar genetic disease variations for Bardet-Biedl Syndrome:

⁵ (show top 50) (show all 4286)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MKKS	NM_170784.3(MKKS):c.431_441del (p.Phe144fs)	DEL	Pathogenic	21670	rs113994195	GRCh37: 20:10393722-10393732 GRCh38: 20:10413074-10413084
2	MKKS	NM_170784.3(MKKS):c.873_876dup (p.Cys293fs)	DUP	Pathogenic	21672	rs113994196	GRCh37: 20:10393286-10393287 GRCh38: 20:10412638-10412639
3	BBS1	NM_024649.5(BBS1):c.-3_37del (p.Met1fs)	DEL	Pathogenic	21708	rs113994178	GRCh37: 11:66278117-66278156 GRCh38: 11:66510646-66510685
4	BBS4	NM_033028.5(BBS4):c.406-2A>C	SNV	Pathogenic	21730	rs113994191	GRCh37: 15:73015133-73015133 GRCh38: 15:72722792-72722792
5	BBS4	NM_033028.5(BBS4):c.77-216del	DEL	Pathogenic	9146	rs113994189	GRCh37: 15:73001821-73001821 GRCh38: 15:72709480-72709480
6	ARL6	NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)	SNV	Pathogenic	68064	rs137854907	GRCh37: 3:97503816-97503816 GRCh38: 3:97784972-97784972
7	BBS12	NM_152618.3(BBS12):c.323C>G (p.Pro108Arg)	SNV	Pathogenic	68065	rs151344630	GRCh37: 4:123663370-123663370 GRCh38: 4:122742215-122742215
8	BBS7	NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs)	INDEL	Pathogenic	216137	rs863224529	GRCh37: 4:122749327-122749329 GRCh38: 4:121828172-121828174
9	BBS9	NM_198428.3(BBS9):c.956del (p.Thr319fs)	DEL	Pathogenic	266086	rs886039799	GRCh37: 7:33313508-33313508 GRCh38: 7:33273896-33273896
10	BBS4	NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)	SNV	Pathogenic	266089	rs886039802	GRCh37: 15:73004600-73004600 GRCh38: 15:72712259-72712259
11	BBS2	NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del	DEL	Pathogenic	266085		GRCh37: 16:56519651-56539861 GRCh38: 16:56485739-56505949
12	BBS4	NM_033028.5(BBS4):c.1226del (p.Ser409fs)	DEL	Pathogenic	266087	rs886039800	GRCh37: 15:73028285-73028285 GRCh38: 15:72735944-72735944
13	BBS9	NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)	SNV	Pathogenic	266106	rs775081992	GRCh37: 7:33192423-33192423 GRCh38: 7:33152811-33152811
14	BBS4	NM_033028.4:r.118_261del	DEL	Pathogenic	266081		GRCh37: GRCh38:
15	BBS9	NM_198428.3(BBS9):c.2115+1G>A	SNV	Pathogenic	266088	rs886039801	GRCh37: 7:33427757-33427757 GRCh38: 7:33388145-33388145
16	BBS7	NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)	SNV	Pathogenic	3016	rs119466002	GRCh37: 4:122775945-122775945 GRCh38: 4:121854790-121854790
17	NPHP1	GRCh37/hg19 2q13(chr2:110875689-110967529)	CN LOSS	Pathogenic	431747		GRCh37: 2:110875689-110967529 GRCh38:
18	ASTN2, TRIM32	NC_000009.12:g.(?_116697723)_(116699724_?)del	DEL	Pathogenic	462941		GRCh37: 9:119460002-119462003 GRCh38: 9:116697723-116699724
19	BBS2	NC_000016.9:g.(?_56518653)_(56545216_?)del	DEL	Pathogenic	462944		GRCh37: 16:56518653-56545216 GRCh38:
20	CEP19	NM_032898.5(CEP19):c.182dup (p.Tyr61Ter)	DUP	Pathogenic	430642	rs1553794304	GRCh37: 3:196434731-196434732 GRCh38: 3:196707860-196707861
21	BBS10	NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)	DEL	Pathogenic	496471	rs1555202584	GRCh37: 12:76740088-76740088 GRCh38: 12:76346308-76346308
22	BBS12	NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)	SNV	Pathogenic	531820	rs1269565757	GRCh37: 4:123664422-123664422 GRCh38: 4:122743267-122743267
23	BBS7	NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter)	SNV	Pathogenic	531822	rs991365297	GRCh37: 4:122756397-122756397 GRCh38: 4:121835242-121835242
24	BBS7	NM_176824.3(BBS7):c.542_543insAA (p.Met181fs)	INSERT	Pathogenic	531829	rs1553933472	GRCh37: 4:122776702-122776703 GRCh38: 4:121855547-121855548
25	BBS1	NM_024649.5(BBS1):c.595_598del (p.Val199fs)	DEL	Pathogenic	531836	rs1555047409	GRCh37: 11:66287089-66287092 GRCh38: 11:66519618-66519621
26	BBS7	NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)	MICROSAT	Pathogenic	285609	rs773139166	GRCh37: 4:122766826-122766827 GRCh38: 4:121845671-121845672
27	WDPCP	NC_000002.12:g.(?_63378386)_(63404657_?)del	DEL	Pathogenic	583791		GRCh37: 2:63605521-63631792 GRCh38: 2:63378386-63404657
28	MKKS	NC_000020.11:g.(?_10405227)_(10413534_?)del	DEL	Pathogenic	584330		GRCh37: 20:10385875-10394182 GRCh38: 20:10405227-10413534
29	BBS7	NM_176824.3(BBS7):c.763A>T (p.Lys255Ter)	SNV	Pathogenic	625451	rs1560658189	GRCh37: 4:122774197-122774197 GRCh38: 4:121853042-121853042
30	BBS5	NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)	SNV	Pathogenic	6161	rs121908581	GRCh37: 2:170344321-170344321 GRCh38: 2:169487811-169487811
31	MKKS	NM_170784.3(MKKS):c.172_175dup (p.Gln59fs)	DUP	Pathogenic	642430	rs1600849412	GRCh37: 20:10393987-10393988 GRCh38: 20:10413339-10413340
32	BBS12	NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)	INSERT	Pathogenic	557758	rs770872200	GRCh37: 4:123663729-123663730 GRCh38: 4:122742574-122742575
33	BBS12	NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)	DEL	Pathogenic	558010	rs1553941369	GRCh37: 4:123664055-123664056 GRCh38: 4:122742900-122742901
34	BBS12	NM_152618.3(BBS12):c.1267del (p.Ile423fs)	DEL	Pathogenic	657227	rs1578491135	GRCh37: 4:123664313-123664313 GRCh38: 4:122743158-122743158
35	ARL6	NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter)	SNV	Pathogenic	2040	rs104893678	GRCh37: 3:97506848-97506848 GRCh38: 3:97788004-97788004
36	BBS4	NC_000015.10:g.72708224_72722485del	DEL	Pathogenic	812225		GRCh37: 15:73000565-73014826 GRCh38:
37	BBS4	NM_033028.5(BBS4):c.884G>C (p.Arg295Pro)	SNV	Pathogenic	9145	rs121434632	GRCh37: 15:73023915-73023915 GRCh38: 15:72731574-72731574
38	BBS7	NM_176824.3(BBS7):c.87_88del (p.His29fs)	MICROSAT	Pathogenic	804446	rs1578577361	GRCh37: 4:122789150-122789151 GRCh38: 4:121867995-121867996
39	BBS9	NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)	SNV	Pathogenic	2660	rs137852858	GRCh37: 7:33376099-33376099 GRCh38: 7:33336487-33336487
40	BBS10	NC_000012.12:g.(?_76345803)_(76348368_?)del	DEL	Pathogenic	830774		GRCh37: 12:76739583-76742148 GRCh38:
41	BBS12	NC_000004.12:g.(?_122741883)_(122744035_?)del	DEL	Pathogenic	830786		GRCh37: 4:123663038-123665190 GRCh38:
42	ASTN2, TRIM32	NC_000009.12:g.(?_116697733)_(116699714_?)del	DEL	Pathogenic	831287		GRCh37: 9:119460012-119461993 GRCh38:
43	ASTN2 and overlap with 1 gene(s)	NC_000009.12:g.(?_116697743)_(116820783_?)del	DEL	Pathogenic	831676		GRCh37: 9:119460022-119583062 GRCh38:
44	BBS5	NC_000002.12:g.(?_169492874)_(169493836_?)del	DEL	Pathogenic	832168		GRCh37: 2:170349384-170350346 GRCh38:
45	BBS1	NC_000011.10:g.(?_66510650)_(66524211_?)del	DEL	Pathogenic	832534		GRCh37: 11:66278121-66291682 GRCh38:
46	BBS1	NC_000011.10:g.(?_66523446)_(66524211_?)del	DEL	Pathogenic	833034		GRCh37: 11:66290917-66291682 GRCh38:
47	BBS1	NC_000011.10:g.(?_66510640)_(66523902_?)del	DEL	Pathogenic	833066		GRCh37: 11:66278111-66291373 GRCh38:
48	ASTN2, TRIM32	NC_000009.12:g.(?_116697743)_(116699704_?)del	DEL	Pathogenic	833078		GRCh37: 9:119460022-119461983 GRCh38:
49	BBS12	NM_152618.3(BBS12):c.1151del (p.Ser384fs)	DEL	Pathogenic	550386	rs1553941404	GRCh37: 4:123664198-123664198 GRCh38: 4:122743043-122743043
50	ASTN2, TRIM32	NM_012210.4(TRIM32):c.678C>A (p.Tyr226Ter)	SNV	Pathogenic	851055	rs398124253	GRCh37: 9:119460699-119460699 GRCh38: 9:116698420-116698420

Sources

Expression for Bardet-Biedl Syndrome

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

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Pathways for Bardet-Biedl Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.83	BBS9 BBS7 BBS5 BBS4 BBS2 BBS12
2	Ciliary landscape ⁷⁴	12.3	TTC8 IFT27 CEP290 BBS9 BBS7 BBS5
3	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	12.22	WDPCP TTC8 TRIM32 SDCCAG8 MKKS IFT27
4	Ciliopathies ⁷⁴	11.89	WDPCP SDCCAG8 NPHP1 CEP290 CEP19 BBS4
5	Cargo trafficking to the periciliary membrane ⁶⁶ Show member pathways ARL13B-mediated ciliary trafficking of INPP5E ⁶⁶ BBSome-mediated cargo-targeting to cilium ⁶⁶ Trafficking of myristoylated proteins to the cilium ⁶⁶ VxPx cargo-targeting to cilium ⁶⁶	11.71	ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
6	Joubert syndrome ⁷⁴	11.15	BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
7	Alstrom syndrome ⁷⁴	10.87	IFT27 CEP19

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GO Terms for Bardet-Biedl Syndrome

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.63	WDPCP TTC8 TRIM32 SDCCAG8 NPHP1 MKKS
2	centrosome	GO:0005813	10.41	BBS1 BBS4 BBS7 CEP19 CEP290 IFT27
3	cytoskeleton	GO:0005856	10.28	ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
4	motile cilium	GO:0031514	10.26	NPHP1 MKKS IFT27 BBS4 BBS2 BBS1
5	ciliary basal body	GO:0036064	10.25	BBS2 BBS4 BBS5 BBS7 CEP19 CEP290
6	axoneme	GO:0005930	10.21	WDPCP BBS7 BBS5 BBS1 ARL6
7	centriolar satellite	GO:0034451	10.21	SDCCAG8 CEP290 BBS9 BBS5 BBS4 BBS1
8	centriole	GO:0005814	10.14	BBS4 CEP19 CEP290 SDCCAG8
9	ciliary membrane	GO:0060170	10.13	ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
10	photoreceptor connecting cilium	GO:0032391	10.1	BBS4 CEP290 NPHP1 TTC8
11	microtubule organizing center	GO:0005815	10.07	TTC8 SDCCAG8 MKKS CEP290 BBS9 BBS7
12	cell projection	GO:0042995	10.06	ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
13	cilium	GO:0005929	10.05	ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
14	ciliary transition zone	GO:0035869	10	CEP290 BBS9 BBS4
15	BBSome	GO:0034464	9.47	BBS1 BBS2 BBS4 BBS5 BBS7 BBS9

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

(show all 34)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein transport	GO:0015031	10.36	ARL6 ASTN2 BBS1 BBS2 BBS4 BBS5
2	visual perception	GO:0007601	10.32	MKKS BBS9 BBS7 BBS5 BBS4 BBS2
3	neuron migration	GO:0001764	10.24	SDCCAG8 BBS4 BBS1 ASTN2
4	response to stimulus	GO:0050896	10.23	MKKS BBS9 BBS7 BBS5 BBS4 BBS2
5	cerebral cortex development	GO:0021987	10.21	BBS1 BBS2 BBS4 MKKS
6	photoreceptor cell maintenance	GO:0045494	10.21	MKKS BBS4 BBS2 BBS12 BBS10 BBS1
7	hippocampus development	GO:0021766	10.19	MKKS BBS4 BBS2 BBS1
8	heart looping	GO:0001947	10.18	MKKS BBS7 BBS5 BBS4
9	intracellular transport	GO:0046907	10.17	MKKS BBS7 BBS5 BBS4
10	non-motile cilium assembly	GO:1905515	10.16	TTC8 MKKS CEP290 BBS7 BBS4 BBS2
11	determination of left/right symmetry	GO:0007368	10.14	MKKS BBS7 ARL6
12	protein localization to cilium	GO:0061512	10.14	BBS9 BBS4 BBS1 ARL6
13	cartilage development	GO:0051216	10.13	MKKS BBS2 BBS1
14	brain morphogenesis	GO:0048854	10.13	MKKS BBS4 BBS2 BBS1
15	protein localization	GO:0008104	10.12	BBS7 BBS4 BBS2 BBS1
16	negative regulation of GTPase activity	GO:0034260	10.11	BBS4 MKKS TTC8
17	intraciliary transport	GO:0042073	10.11	WDPCP IFT27 BBS12
18	fat cell differentiation	GO:0045444	10.11	BBS1 BBS12 BBS2 BBS4 BBS7 BBS9
19	positive regulation of multicellular organism growth	GO:0040018	10.1	MKKS BBS4 BBS2
20	adult behavior	GO:0030534	10.1	BBS4 BBS2 BBS1
21	striatum development	GO:0021756	10.1	MKKS BBS4 BBS2 BBS1
22	melanosome transport	GO:0032402	10.1	ARL6 BBS2 BBS4 BBS5 BBS7 MKKS
23	chaperone-mediated protein complex assembly	GO:0051131	10.09	MKKS BBS12 BBS10
24	regulation of cilium beat frequency involved in ciliary motility	GO:0060296	10.08	BBS1 BBS2 BBS4 MKKS
25	regulation of stress fiber assembly	GO:0051492	10.06	TTC8 MKKS BBS4
26	negative regulation of appetite by leptin-mediated signaling pathway	GO:0038108	9.99	MKKS BBS4 BBS2
27	microtubule anchoring at centrosome	GO:0034454	9.96	CEP19 BBS4
28	artery smooth muscle contraction	GO:0014824	9.95	MKKS BBS2
29	sensory processing	GO:0050893	9.92	TTC8 BBS4
30	pigment granule aggregation in cell center	GO:0051877	9.9	MKKS BBS7
31	cell projection organization	GO:0030030	9.83	ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
32	cilium assembly	GO:0060271	9.74	ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
33	leptin-mediated signaling pathway	GO:0033210	9.73	BBS2 BBS4 MKKS
34	response to leptin	GO:0044321	9.72	MKKS BBS4 BBS2