Bardet-Biedl Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Bardet-Biedl Syndrome 4

MalaCards integrated aliases for Bardet-Biedl Syndrome 4:

Name: Bardet-Biedl Syndrome 4 ⁵⁸ ¹² ⁵⁴ ⁷⁶ ³⁰ ⁶ ¹⁵ ¹⁷ ⁷⁴

Bbs4 ⁵⁸ ¹² ⁷⁶

Bardet-Biedl Syndrome, Type 4 ⁷⁷ ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

bardet-biedl syndrome 4:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110126

OMIM ⁵⁸ 615982

MeSH ⁴⁵ D020788

ICD10 ³⁴ Q87.89

MedGen ⁴³ C2936864

SNOMED-CT via HPO ⁷⁰ 204878001 228156007 247578003 more

EFO ¹⁷ EFO_0009024

UMLS ⁷⁴ C2936864

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Summaries for Bardet-Biedl Syndrome 4

UniProtKB/Swiss-Prot : ⁷⁶ Bardet-Biedl syndrome 4: 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 4, also known as bbs4, is related to bardet-biedl syndrome 1 and polydactyly. An important gene associated with Bardet-Biedl Syndrome 4 is BBS4 (Bardet-Biedl Syndrome 4), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include kidney, heart and testes, and related phenotypes are intellectual disability and abnormality of the dentition

Disease Ontology : ¹² A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS4 gene on chromosome 15q24.

OMIM : ⁵⁸ BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615982)

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 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)

#	Related Disease	Score	Top Affiliating Genes
1	bardet-biedl syndrome 1	32.1	BBS1 BBS2 BBS4
2	polydactyly	31.8	BBS1 BBS2 BBS4
3	bardet-biedl syndrome 3	31.7	BBS1 BBS2 BBS4
4	bardet-biedl syndrome 15	31.7	BBS2 BBS4
5	hydrolethalus syndrome 1	31.6	BBS2 BBS4 OFD1
6	bardet-biedl syndrome 6	31.6	BBS1 BBS2 BBS4
7	bardet-biedl syndrome 14	31.6	BBS1 BBS2
8	bardet-biedl syndrome 8	31.6	BBS1 BBS2 BBS4
9	mckusick-kaufman syndrome	31.6	BBS1 BBS2 BBS4
10	bardet-biedl syndrome 18	31.6	BBS1 BBS2 BBS4
11	bardet-biedl syndrome 17	31.6	BBS1 BBS2 BBS4
12	bardet-biedl syndrome 13	31.6	BBS1 BBS2 BBS4
13	meckel syndrome, type 1	31.5	BBS1 BBS4 OFD1
14	fundus dystrophy	31.5	BBS1 BBS2 BBS4
15	retinitis pigmentosa	31.0	BBS1 BBS2 BBS4 DCTN1 OFD1
16	bardet-biedl syndrome	30.0	BBS1 BBS2 BBS4 DCTN1 PCM1
17	body mass index quantitative trait locus 11	11.4
18	tetralogy of fallot	11.1
19	deafness, autosomal recessive 48	11.1
20	chromosome 15q24 deletion syndrome	11.1
21	bardet-biedl syndrome 2	10.4
22	bardet-biedl syndrome 10	10.4
23	bardet-biedl syndrome 11	10.4
24	bardet-biedl syndrome 12	10.4
25	nonsyndromic retinitis pigmentosa	10.1	BBS1 BBS2
26	lissencephaly 1	10.0	DISC1 PAFAH1B1
27	body mass index quantitative trait locus 8	10.0
28	body mass index quantitative trait locus 10	10.0
29	body mass index quantitative trait locus 7	10.0
30	body mass index quantitative trait locus 14	10.0
31	body mass index quantitative trait locus 18	10.0
32	bardet-biedl syndrome 5	10.0
33	bardet-biedl syndrome 7	10.0
34	bardet-biedl syndrome 9	10.0
35	body mass index quantitative trait locus 19	10.0
36	schizophrenia 1	9.9	DISC1 PAFAH1B1
37	alstrom syndrome	9.8	BBS1 BBS2

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 4:

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Symptoms & Phenotypes for Bardet-Biedl Syndrome 4

Human phenotypes related to Bardet-Biedl Syndrome 4:

³³ (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³³	occasional (7.5%)	HP:0001249
2	abnormality of the dentition ³³	occasional (7.5%)	HP:0000164
3	obesity ³³		HP:0001513
4	cryptorchidism ³³		HP:0000028
5	nyctalopia ³³		HP:0000662
6	hypogonadism ³³		HP:0000135
7	brachydactyly ³³		HP:0001156
8	rod-cone dystrophy ³³		HP:0000510
9	renal cyst ³³		HP:0000107
10	syndactyly ³³		HP:0001159
11	retinal degeneration ³³		HP:0000546
12	external genital hypoplasia ³³		HP:0003241
13	polydactyly ³³		HP:0010442

Symptoms via clinical synopsis from OMIM:

⁵⁸

Growth Weight:
obesity

Skeletal Hands:
brachydactyly
syndactyly
polydactyly

Skeletal Feet:
polydactyly

Neurologic Central Nervous System:
mental retardation (in some patients)

Head And Neck Teeth:
dental abnormalities (in some patients)

Genitourinary External Genitalia Male:
cryptorchidism
hypogonadism
hypogenitalism

Head And Neck Eyes:
retinal degeneration
night blindness
retinitis pigmentosa

Genitourinary Kidneys:
renal cysts
renal anomalies

Head And Neck Nose:
impaired olfaction (in some patients)

Clinical features from OMIM:

615982

GenomeRNAi Phenotypes related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	9.1	BBS1 BBS2 DCTN1 DISC1 HAP1 PAFAH1B1

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 4:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.13	ATG5 BBS1 BBS2 BBS4 DCTN1 DISC1
2	cellular	MP:0005384	10.1	ATG3 ATG5 BBS1 BBS2 BBS4 DCTN1
3	growth/size/body region	MP:0005378	10.02	ATG3 ATG5 BBS1 BBS2 BBS4 DISC1
4	mortality/aging	MP:0010768	9.91	ATG3 ATG5 BBS1 BBS4 DCTN1 HAP1
5	endocrine/exocrine gland	MP:0005379	9.85	ATG3 ATG5 BBS2 BBS4 OGT PAFAH1B1
6	nervous system	MP:0003631	9.85	ATG5 BBS1 BBS2 BBS4 DCTN1 DISC1
7	renal/urinary system	MP:0005367	9.35	ATG5 BBS1 BBS2 BBS4 OFD1
8	taste/olfaction	MP:0005394	8.8	BBS1 BBS2 BBS4

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Drugs & Therapeutics for Bardet-Biedl Syndrome 4

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 4

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Genetic Tests for Bardet-Biedl Syndrome 4

Genetic tests related to Bardet-Biedl Syndrome 4:

#	Genetic test	Affiliating Genes
1	Bardet-Biedl Syndrome 4 ³⁰	BBS4

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Anatomical Context for Bardet-Biedl Syndrome 4

MalaCards organs/tissues related to Bardet-Biedl Syndrome 4:

⁴²

Kidney, Heart, Testes, Adipocyte, Eye

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Publications for Bardet-Biedl Syndrome 4

Articles related to Bardet-Biedl Syndrome 4:

(show all 26)

#	Title	Authors	Year
1	Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. ( 30902542 )	Anosov M...Birk R	2019
2	BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia. ( 30665891 )	Uytingco CR...Martens JR	2019
3	A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ( 28533336 )	Chew T...Wade CM	2017
4	Insulin regulates Bbs4 during adipogenesis. ( 28371235 )	Nahum N...Birk R	2017
5	BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1. ( 28852127 )	Prieto-Echag?e V...Badano JL	2017
6	Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. ( 26518167 )	Ece Solmaz A...Ozkinay F	2015
7	BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors. ( 26150102 )	Xu Q...Hu J	2015
8	A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome. ( 25533820 )	Li Q...Peng X	2014
9	BBS4 directly affects proliferation and differentiation of adipocytes. ( 24500759 )	Aksanov O...Birk RZ	2014
10	The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. ( 24550735 )	Chamling X...Sheffield VC	2014
11	BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF. ( 24867303 )	Leitch CC...Zaghloul NA	2014
12	Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice. ( 23554981 )	Chamling X...Sheffield VC	2013
13	Exome capture sequencing identifies a novel mutation in BBS4. ( 22219648 )	Wang H...Chen R	2011
14	Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses. ( 18762586 )	Kamiya A...Sawa A	2008
15	Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage. ( 17591906 )	Swiderski RE...Sheffield VC	2007
16	Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. ( 16794820 )	Eichers ER...Lupski JR	2006
17	Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. ( 15654695 )	Iannaccone A...Sheffield VC	2005
18	Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. ( 15173597 )	Mykytyn K...Sheffield VC	2004
19	Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4). ( 15497446 )	Ye X...Mao Y	2004
20	The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. ( 15107855 )	Kim JC...Beales PL	2004
21	BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. ( 12016587 )	Katsanis N...Lupski JR	2002
22	The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. ( 12365916 )	Riise R...Sheffield VC	2002
23	Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. ( 11381270 )	Mykytyn K...Sheffield VC	2001
24	The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23. ( 10409426 )	Gorman SW...Duhl DM	1999
25	Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. ( 7711739 )	Carmi R...Sheffield VC	1995
26	Interference of nonsense mutations with eukaryotic messenger RNA stability. ( 388431 )	Losson R...Lacroute F	1979

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Genes for Bardet-Biedl Syndrome 4

Genes related to Bardet-Biedl Syndrome 4 (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	1378.07	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Proteins Transcripts Variants (show sections)	11381270 7711739 20301537 (more) 12016587 15654695 388431
2	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	16.94	DISEASES inferred ¹⁵
3	PCM1	Pericentriolar Material 1	Protein Coding	16.56	DISEASES inferred ¹⁵
4	HAP1	Huntingtin Associated Protein 1	Protein Coding	16.15	DISEASES inferred ¹⁵
5	DCTN1	Dynactin Subunit 1	Protein Coding	15.67	DISEASES inferred ¹⁵
6	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	15.4	DISEASES inferred ¹⁵
7	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	15.26	DISEASES inferred ¹⁵
8	DISC1	DISC1 Scaffold Protein	Protein Coding	14.95	DISEASES inferred ¹⁵
9	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	14.85	DISEASES inferred ¹⁵
10	ATG5	Autophagy Related 5	Protein Coding	14.43	DISEASES inferred ¹⁵
11	OGT	O-Linked N-Acetylglucosamine (GlcNAc) Transferase	Protein Coding	13.16	DISEASES inferred ¹⁵
12	ATG3	Autophagy Related 3	Protein Coding	5.67	DISEASES inferred ¹⁵

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Variations for Bardet-Biedl Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 4:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	BBS4	p.Arg295Pro	VAR_013170	rs121434632
2	BBS4	p.Asn165His	VAR_017049
3	BBS4	p.Leu327Pro	VAR_017050
4	BBS4	p.Ala364Glu	VAR_017051	rs28938468
5	BBS4	p.Ser457Ile	VAR_017052
6	BBS4	p.Met472Val	VAR_017053	rs2277596
7	BBS4	p.Leu351Arg	VAR_038895
8	BBS4	p.Asp368Gly	VAR_038896	rs772548770
9	BBS4	p.Pro503Leu	VAR_038897	rs756419611

ClinVar genetic disease variations for Bardet-Biedl Syndrome 4:

⁶ (show all 14)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BBS4	NM_033028.4(BBS4): c.884G> C (p.Arg295Pro)	single nucleotide variant	Pathogenic	rs121434632	GRCh37	Chromosome 15, 73023915: 73023915
2	BBS4	NM_033028.4(BBS4): c.884G> C (p.Arg295Pro)	single nucleotide variant	Pathogenic	rs121434632	GRCh38	Chromosome 15, 72731574: 72731574
3	BBS4	NM_033028.4(BBS4): c.77-220delA	deletion	Pathogenic	rs113994189	GRCh37	Chromosome 15, 73001821: 73001821
4	BBS4	NM_033028.4(BBS4): c.77-220delA	deletion	Pathogenic	rs113994189	GRCh38	Chromosome 15, 72709480: 72709480
5	BBS4	NM_033028.4(BBS4): c.157-2A> G	single nucleotide variant	Pathogenic	rs113994192	GRCh37	Chromosome 15, 73004583: 73004583
6	BBS4	NM_033028.4(BBS4): c.157-2A> G	single nucleotide variant	Pathogenic	rs113994192	GRCh38	Chromosome 15, 72712242: 72712242
7	BBS4	NM_033028.4(BBS4): c.1091C> A (p.Ala364Glu)	single nucleotide variant	Pathogenic	rs28938468	GRCh37	Chromosome 15, 73027508: 73027508
8	BBS4	NM_033028.4(BBS4): c.1091C> A (p.Ala364Glu)	single nucleotide variant	Pathogenic	rs28938468	GRCh38	Chromosome 15, 72735167: 72735167
9	BBS4	NM_033028.4(BBS4): c.1414A> G (p.Met472Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2277596	GRCh38	Chromosome 15, 72736927: 72736927
10	BBS4	NM_033028.4(BBS4): c.1414A> G (p.Met472Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs2277596	GRCh37	Chromosome 15, 73029268: 73029268
11	BBS4	NM_033028.4(BBS4): c.406-2A> G	single nucleotide variant	Pathogenic	rs113994191	GRCh38	Chromosome 15, 72722792: 72722792
12	BBS4	NM_033028.4(BBS4): c.406-2A> G	single nucleotide variant	Pathogenic	rs113994191	GRCh37	Chromosome 15, 73015133: 73015133
13	BBS4	NM_033028.4(BBS4): c.883C> T (p.Arg295Ter)	single nucleotide variant	Pathogenic	rs775710800	GRCh38	Chromosome 15, 72731573: 72731573
14	BBS4	NM_033028.4(BBS4): c.883C> T (p.Arg295Ter)	single nucleotide variant	Pathogenic	rs775710800	GRCh37	Chromosome 15, 73023914: 73023914

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Expression for Bardet-Biedl Syndrome 4

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 4.

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Pathways for Bardet-Biedl Syndrome 4

Pathways related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance ⁶⁷ Show member pathways Cilium Assembly ⁶⁷	11.89	BBS1 BBS2 BBS4 DCTN1 OFD1 PAFAH1B1
2	Cargo trafficking to the periciliary membrane ⁶⁷ Show member pathways ARL13B-mediated ciliary trafficking of INPP5E ⁶⁷ BBSome-mediated cargo-targeting to cilium ⁶⁷ Trafficking of myristoylated proteins to the cilium ⁶⁷ VxPx cargo-targeting to cilium ⁶⁷	11.16	BBS1 BBS2 BBS4
3	COPI-independent Golgi-to-ER retrograde traffic ⁶⁷	10.6	DCTN1 PAFAH1B1

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GO Terms for Bardet-Biedl Syndrome 4

Cellular components related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.93	BBS1 BBS2 BBS4 HAP1 OFD1 PCM1
2	cilium	GO:0005929	9.81	BBS1 BBS2 BBS4 OFD1
3	cytoskeleton	GO:0005856	9.81	BBS1 BBS2 BBS4 DCTN1 DISC1 HAP1
4	centriole	GO:0005814	9.72	BBS4 DCTN1 HAP1 OFD1 PCM1
5	motile cilium	GO:0031514	9.7	BBS2 BBS4 PAFAH1B1
6	ciliary membrane	GO:0060170	9.65	BBS1 BBS2 BBS4
7	ciliary basal body	GO:0036064	9.65	BBS1 BBS2 BBS4 OFD1 PCM1
8	centriolar satellite	GO:0034451	9.61	BBS4 OFD1 PCM1
9	intermediate filament cytoskeleton	GO:0045111	9.58	DCTN1 DISC1
10	stereocilium	GO:0032420	9.58	BBS2 PAFAH1B1
11	microtubule associated complex	GO:0005875	9.57	DCTN1 PAFAH1B1
12	ciliary transition zone	GO:0035869	9.56	BBS4 PCM1
13	centrosome	GO:0005813	9.56	BBS1 BBS4 DCTN1 DISC1 HAP1 OFD1
14	non-motile cilium	GO:0097730	9.55	BBS4 PCM1
15	pericentriolar material	GO:0000242	9.54	BBS4 PCM1
16	BBSome	GO:0034464	9.54	BBS1 BBS2 BBS4
17	microtubule organizing center	GO:0005815	9.23	BBS1 BBS2 BBS4 DCTN1 DISC1 OFD1
18	cytosol	GO:0005829	10.19	ATG3 ATG5 BBS1 BBS2 BBS4 DCTN1
19	cytoplasm	GO:0005737	10.18	ATG3 ATG5 BBS1 BBS2 BBS4 DCTN1

Biological processes related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

(show all 40)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein transport	GO:0015031	9.97	ATG3 BBS1 BBS2 BBS4 HAP1
2	visual perception	GO:0007601	9.84	BBS1 BBS2 BBS4
3	autophagy	GO:0006914	9.82	ATG3 ATG5 HAP1
4	microtubule cytoskeleton organization	GO:0000226	9.78	BBS4 DISC1 PAFAH1B1
5	G2/M transition of mitotic cell cycle	GO:0000086	9.78	DCTN1 OFD1 PAFAH1B1 PCM1
6	neuron migration	GO:0001764	9.76	BBS4 DISC1 PAFAH1B1 PCM1
7	protein localization	GO:0008104	9.74	BBS2 BBS4 HAP1
8	cerebral cortex development	GO:0021987	9.73	BBS2 BBS4 PAFAH1B1
9	hippocampus development	GO:0021766	9.72	BBS2 BBS4 PAFAH1B1
10	ciliary basal body-plasma membrane docking	GO:0097711	9.71	DCTN1 OFD1 PAFAH1B1 PCM1
11	negative regulation of protein ubiquitination	GO:0031397	9.68	ATG5 OGT
12	regulation of cilium assembly	GO:1902017	9.68	ATG3 ATG5
13	centrosome cycle	GO:0007098	9.68	BBS4 PCM1
14	retina homeostasis	GO:0001895	9.67	BBS1 BBS4
15	autophagy of mitochondrion	GO:0000422	9.67	ATG3 ATG5
16	positive regulation of multicellular organism growth	GO:0040018	9.67	BBS2 BBS4
17	photoreceptor cell maintenance	GO:0045494	9.67	BBS1 BBS2 BBS4
18	adult behavior	GO:0030534	9.66	BBS2 BBS4
19	Golgi to plasma membrane protein transport	GO:0043001	9.65	BBS1 BBS2
20	protein localization to cilium	GO:0061512	9.65	BBS1 BBS4
21	establishment of mitotic spindle orientation	GO:0000132	9.65	DCTN1 PAFAH1B1
22	cilium assembly	GO:0060271	9.65	BBS1 BBS2 BBS4 OFD1 PCM1
23	melanosome transport	GO:0032402	9.64	BBS2 BBS4
24	vasodilation	GO:0042311	9.63	ATG5 BBS2
25	protein localization to centrosome	GO:0071539	9.63	BBS4 PCM1
26	striatum development	GO:0021756	9.62	BBS2 BBS4
27	negative regulation of phagocytosis	GO:0050765	9.62	ATG3 ATG5
28	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.62	DCTN1 OFD1 PAFAH1B1 PCM1
29	vesicle transport along microtubule	GO:0047496	9.61	HAP1 PAFAH1B1
30	brain morphogenesis	GO:0048854	9.61	BBS2 BBS4 PAFAH1B1
31	response to leptin	GO:0044321	9.6	BBS2 BBS4
32	leptin-mediated signaling pathway	GO:0033210	9.59	BBS2 BBS4
33	retrograde axonal transport	GO:0008090	9.58	HAP1 PAFAH1B1
34	regulation of cilium beat frequency involved in ciliary motility	GO:0060296	9.54	BBS2 BBS4
35	protein localization to organelle	GO:0033365	9.54	BBS2 BBS4 PCM1
36	nuclear envelope disassembly	GO:0051081	9.52	DCTN1 PAFAH1B1
37	negative regulation of appetite by leptin-mediated signaling pathway	GO:0038108	9.51	BBS2 BBS4
38	cell projection organization	GO:0030030	9.43	BBS1 BBS2 BBS4 HAP1 OFD1 PCM1
39	microtubule anchoring at centrosome	GO:0034454	9.33	BBS4 DCTN1 PCM1
40	non-motile cilium assembly	GO:1905515	9.1	BBS1 BBS2 BBS4 DCTN1 DISC1 PCM1

Molecular functions related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.93	ATG3 ATG5 BBS1 BBS2 BBS4 DCTN1
2	alpha-tubulin binding	GO:0043014	9.37	BBS4 OFD1
3	dynein complex binding	GO:0070840	9.32	DCTN1 PAFAH1B1
4	dynactin binding	GO:0034452	9.26	BBS4 PAFAH1B1
5	Atg8 ligase activity	GO:0019776	8.96	ATG3 ATG5
6	RNA polymerase II repressing transcription factor binding	GO:0001103	8.8	BBS1 BBS2 BBS4

Sources

Sources for Bardet-Biedl Syndrome 4

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Bardet-Biedl Syndrome 4 (BBS4)

Aliases & Classifications for Bardet-Biedl Syndrome 4

MalaCards integrated aliases for Bardet-Biedl Syndrome 4:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Bardet-Biedl Syndrome 4

Related Diseases for Bardet-Biedl Syndrome 4

Diseases in the Bardet-Biedl Syndrome family:

Diseases related to Bardet-Biedl Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 4:

Symptoms & Phenotypes for Bardet-Biedl Syndrome 4

Human phenotypes related to Bardet-Biedl Syndrome 4:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 4:

Drugs & Therapeutics for Bardet-Biedl Syndrome 4

Genetic Tests for Bardet-Biedl Syndrome 4

Genetic tests related to Bardet-Biedl Syndrome 4:

Anatomical Context for Bardet-Biedl Syndrome 4

MalaCards organs/tissues related to Bardet-Biedl Syndrome 4:

Publications for Bardet-Biedl Syndrome 4

Articles related to Bardet-Biedl Syndrome 4:

Genes for Bardet-Biedl Syndrome 4

Genes related to Bardet-Biedl Syndrome 4 (1 elite genes):

Variations for Bardet-Biedl Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 4:

ClinVar genetic disease variations for Bardet-Biedl Syndrome 4:

Expression for Bardet-Biedl Syndrome 4

Pathways for Bardet-Biedl Syndrome 4

Pathways related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

GO Terms for Bardet-Biedl Syndrome 4

Cellular components related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

Biological processes related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

Molecular functions related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

Sources for Bardet-Biedl Syndrome 4