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

BBS4 MCID: BRD016 MIFTS: 46	Bardet-Biedl Syndrome 4 (BBS4) 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 Expand all tables

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Aliases & Classifications for Bardet-Biedl Syndrome 4

MalaCards integrated aliases for Bardet-Biedl Syndrome 4:

Name: Bardet-Biedl Syndrome 4 ⁵⁶ ¹² ⁵² ⁷³ ²⁹ ⁶ ¹⁵ ¹⁷ ⁷¹

Bbs4 ⁵⁶ ¹² ⁷³

Bardet-Biedl Syndrome, Type 4 ⁷⁴ ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

bardet-biedl syndrome 4:
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)

External Ids:

Disease Ontology ¹² DOID:0110126

OMIM ⁵⁶ 615982

OMIM Phenotypic Series ⁵⁶ PS209900

MeSH ⁴³ D020788

ICD10 ³² Q87.89

MedGen ⁴¹ C2936864

SNOMED-CT via HPO ⁶⁸ 204878001 228156007 247578003 more

EFO ¹⁷ EFO_0009024

UMLS ⁷¹ C2936864

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Summaries for Bardet-Biedl Syndrome 4

UniProtKB/Swiss-Prot : ⁷³ 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 simpson-golabi-behmel syndrome, type 2 and visceral heterotaxy. An important gene associated with Bardet-Biedl Syndrome 4 is BBS4 (Bardet-Biedl Syndrome 4), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include kidney, heart and brain, and related phenotypes are abnormality of the dentition and intellectual disability

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

OMIM : ⁵⁶ 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 : ⁷⁴ Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

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Related Diseases for Bardet-Biedl Syndrome 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 top 50) (show all 74)

#	Related Disease	Score	Top Affiliating Genes
1	simpson-golabi-behmel syndrome, type 2	31.8	OFD1 BBS4
2	visceral heterotaxy	31.3	PIFO OFD1 BBS4
3	cystic kidney disease	31.2	PIFO OFD1 BBS4
4	nephronophthisis 2	31.1	OFD1 BBS4
5	joubert syndrome 1	31.0	PIFO PCM1 OFD1 BBS4
6	retinal disease	30.8	GUCA1B GUCA1A BBS4
7	leber plus disease	30.3	RGS9BP OFD1 GUCA1B GUCA1A BBS4
8	bardet-biedl syndrome	29.9	PIFO PCM1 OFD1 HIGD2B BBS4
9	fundus dystrophy	29.9	RGS9BP PIFO OFD1 GUCA1B GUCA1A BBS4
10	choroidal dystrophy, central areolar, 1	29.5	GUCA1B GUCA1A
11	bardet-biedl syndrome 7	29.4	RGS9BP GUCA1B
12	bardet-biedl syndrome 1	11.5
13	body mass index quantitative trait locus 11	11.5
14	mckusick-kaufman syndrome	11.5
15	bardet-biedl syndrome 3	11.5
16	bardet-biedl syndrome 10	11.4
17	bardet-biedl syndrome 6	11.4
18	meckel syndrome, type 1	11.2
19	polycystic kidney disease	11.2
20	tetralogy of fallot	11.0
21	acrocallosal syndrome	11.0
22	alstrom syndrome	11.0
23	cranioectodermal dysplasia 1	11.0
24	polycystic kidney disease 4 with or without polycystic liver disease	11.0
25	senior-loken syndrome 1	11.0
26	night blindness, congenital stationary, autosomal dominant 3	11.0
27	ciliary dyskinesia, primary, 9	11.0
28	bardet-biedl syndrome 8	11.0
29	bardet-biedl syndrome 11	11.0
30	bardet-biedl syndrome 13	11.0
31	bardet-biedl syndrome 14	11.0
32	bardet-biedl syndrome 15	11.0
33	bardet-biedl syndrome 16	11.0
34	bardet-biedl syndrome 17	11.0
35	bardet-biedl syndrome 18	11.0
36	kartagener syndrome	11.0
37	chromosome 15q24 deletion syndrome	11.0
38	physical disorder	11.0
39	nephronophthisis	11.0
40	primary ciliary dyskinesia	11.0
41	ciliopathy	10.5
42	autosomal recessive disease	10.4
43	bardet-biedl syndrome 2	10.3
44	bardet-biedl syndrome 5	10.3
45	retinitis pigmentosa	10.2
46	yemenite deaf-blind hypopigmentation syndrome	10.2
47	polydactyly	10.2
48	neuroretinitis	10.2
49	retinitis	10.2
50	retinal degeneration	10.2

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:

³¹ (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	abnormality of the dentition ³¹	occasional (7.5%)	HP:0000164
2	intellectual disability ³¹	very rare (1%)	HP:0001249
3	cryptorchidism ³¹	very rare (1%)	HP:0000028
4	nyctalopia ³¹	very rare (1%)	HP:0000662
5	syndactyly ³¹	very rare (1%)	HP:0001159
6	obesity ³¹		HP:0001513
7	brachydactyly ³¹		HP:0001156
8	rod-cone dystrophy ³¹		HP:0000510
9	hypogonadism ³¹		HP:0000135
10	renal cyst ³¹		HP:0000107
11	retinal degeneration ³¹		HP:0000546
12	polydactyly ³¹		HP:0010442
13	external genital hypoplasia ³¹		HP:0003241

Symptoms via clinical synopsis from OMIM:

⁵⁶

Genitourinary External Genitalia Male:
cryptorchidism
hypogonadism
hypogenitalism

Skeletal Hands:
brachydactyly
polydactyly
syndactyly

Skeletal Feet:
polydactyly

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

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

Growth Weight:
obesity

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

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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 ²⁹	BBS4

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Anatomical Context for Bardet-Biedl Syndrome 4

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

⁴⁰

Kidney, Heart, Brain, Testes, Adipocyte

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Publications for Bardet-Biedl Syndrome 4

Articles related to Bardet-Biedl Syndrome 4:

(show top 50) (show all 122)

#	Title	Authors	PMID	Year
1	Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. ⁶¹ ⁶ ⁵⁶	Iannaccone A...Sheffield VC	15654695	2005
2	BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. ⁵⁶ ⁶ ⁶¹	Katsanis N...Lupski JR	12016587	2002
3	Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. ⁶¹ ⁶ ⁵⁶	Mykytyn K...Sheffield VC	11381270	2001
4	Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. ⁶ ⁵⁶	Carmi R...Sheffield VC	7711739	1995
5	Bardet-Biedl Syndrome ⁶¹ ⁶	Forsythe E...Beales PL	20301537	2003
6	Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. ⁶ ⁶¹	Badano JL...Katsanis N	12567324	2003
7	Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. ⁵⁶	Carmi R...Sheffield VC	8588586	1995
8	Interference of nonsense mutations with eukaryotic messenger RNA stability. ⁶	Losson R...Lacroute F	388431	1979
9	Bardet-Biedl syndrome and related disorders in Japan. ⁶¹	Hirano M...Toda T	32451492	2020
10	Brain Gene Expression-DNA Methylation Correlation in Suicide Completers: Preliminary Results. ⁶¹	Cabrera-Mendoza B...Nicolini H	32488228	2020
11	NRF2 negatively regulates primary ciliogenesis and hedgehog signaling. ⁶¹	Liu P...Zhang DD	32053600	2020
12	Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies. ⁶¹	Tsai IC...Katsanis N	31723061	2019
13	Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. ⁶¹	Niederlova V...Stepanek O	31283077	2019
14	Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. ⁶¹	Anosov M...Birk R	30902542	2019
15	BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia. ⁶¹	Uytingco CR...Martens JR	30665891	2019
16	15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia. ⁶¹	Huynh MT...Receveur A	29549028	2018
17	The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export. ⁶¹	Liu P...Lechtreck KF	29339469	2018
18	Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. ⁶¹	Dilan TL...Ramamurthy V	29126234	2018
19	Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. ⁶¹	Alvarez-Satta M...Valverde D	28502102	2017
20	BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1. ⁶¹	Prieto-Echague V...Badano JL	28852127	2017
21	A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ⁶¹	Chew T...Wade CM	28533336	2017
22	Insulin regulates Bbs4 during adipogenesis. ⁶¹	Nahum N...Birk R	28371235	2017
23	The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking. ⁶¹	Conkar D...Firat-Karalar EN	28235840	2017
24	The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling. ⁶¹	Goetz SC...Anderson KV	28291807	2017
25	Ciliary Defects in a Mouse Model of Bardet-Biedl Syndrome are Selectively Pronounced in Brian Regions Involved in Cardiovascular Regulation. ⁶¹	Agassandian C...Agassandian K	30193056	2016
26	Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. ⁶¹	Lindstrand A...Katsanis N	27486776	2016
27	Non-essential role for cilia in coordinating precise alignment of lens fibres. ⁶¹	Sugiyama Y...McAvoy JW	26825015	2016
28	Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. ⁶¹	Lodh S...Zaghloul NA	26494903	2016
29	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. ⁶¹	Ece Solmaz A...Ozkinay F	26518167	2015
30	High-Throughput Differentiation and Screening of a Library of Mutant Stem Cell Clones Defines New Host-Based Genes Involved in Rabies Virus Infection. ⁶¹	Wallis D...Sacchettini JC	25752821	2015
31	BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors. ⁶¹	Xu Q...Hu J	26150102	2015
32	Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins. ⁶¹	Katoh Y...Nakayama K	25964651	2015
33	Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents. ⁶¹	Gerdes JM...Berggren PO	25374274	2014
34	Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. ⁶¹	Su X...Zhou J	24939912	2014
35	BBS4 directly affects proliferation and differentiation of adipocytes. ⁶¹	Aksanov O...Birk RZ	24500759	2014
36	Ccdc13 is a novel human centriolar satellite protein required for ciliogenesis and genome stability. ⁶¹	Staples CJ...Collis SJ	24816561	2014
37	Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. ⁶¹	Fattahi Z...Najmabadi H	24849935	2014
38	Basal body proteins regulate Notch signaling through endosomal trafficking. ⁶¹	Leitch CC...Zaghloul NA	24681783	2014
39	Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. ⁶¹	Liu YP...Katsanis N	24691443	2014
40	Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. ⁶¹	M'hamdi O...Chaabouni H	23432027	2014
41	Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). ⁶¹	Scheidecker S...Dollfus H	24026985	2014
42	The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. ⁶¹	Chamling X...Sheffield VC	24550735	2014
43	A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome. ⁶¹	Li Q...Peng X	25533820	2014
44	BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF. ⁶¹	Leitch CC...Zaghloul NA	24867303	2014
45	Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model. ⁶¹	Agassandian K...Card JP	24695551	2014
46	BBS mutations modify phenotypic expression of CEP290-related ciliopathies. ⁶¹	Zhang Y...Sheffield VC	23943788	2014
47	Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. ⁶¹	Hernandez-Hernandez V...Beales PL	23716571	2013
48	Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites. ⁶¹	Tang Z...Zhong Q	24089205	2013
49	Leptin resistance is a secondary consequence of the obesity in ciliopathy mutant mice. ⁶¹	Berbari NF...Yoder BK	23599282	2013
50	Cycling of the signaling protein phospholipase D through cilia requires the BBSome only for the export phase. ⁶¹	Lechtreck KF...Witman GB	23589493	2013

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Genes for Bardet-Biedl Syndrome 4

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

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	1358.9	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Proteins Variants (show sections)	20301537 388431 15654695 (more) 12016587 11381270 7711739
2	HIGD2B	HIG1 Hypoxia Inducible Domain Family Member 2B	Protein Coding	8.17	GeneCards inferred via : Variants (show sections)
3	PCM1	Pericentriolar Material 1	Protein Coding	7.27	DISEASES inferred ¹⁵
4	FAM170B	Family With Sequence Similarity 170 Member B	Protein Coding	6.96	DISEASES inferred ¹⁵
5	HEATR5A	HEAT Repeat Containing 5A	Protein Coding	6.92	DISEASES inferred ¹⁵
6	SNORD42B	Small Nucleolar RNA, C/D Box 42B	RNA Gene	6.72	DISEASES inferred ¹⁵
7	PRR21	Proline Rich 21	Protein Coding	6.7	DISEASES inferred ¹⁵
8	CWF19L2	CWF19 Like Cell Cycle Control Factor 2	Protein Coding	6.64	DISEASES inferred ¹⁵
9	PRAMEF12	PRAME Family Member 12	Protein Coding	6.54	DISEASES inferred ¹⁵
10	FAM186A	Family With Sequence Similarity 186 Member A	Protein Coding	6.39	DISEASES inferred ¹⁵
11	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	6.17	DISEASES inferred ¹⁵
12	PIFO	Primary Cilia Formation	Protein Coding	6.16	DISEASES inferred ¹⁵
13	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	6.15	DISEASES inferred ¹⁵
14	TAS2R46	Taste 2 Receptor Member 46	Protein Coding	6.04	DISEASES inferred ¹⁵
15	RGS9BP	Regulator Of G Protein Signaling 9 Binding Protein	Protein Coding	6	DISEASES inferred ¹⁵
16	GUCA1B	Guanylate Cyclase Activator 1B	Protein Coding	5.97	DISEASES inferred ¹⁵
17	ATAD3B	ATPase Family AAA Domain Containing 3B	Protein Coding	5.9	DISEASES inferred ¹⁵

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Variations for Bardet-Biedl Syndrome 4

ClinVar genetic disease variations for Bardet-Biedl Syndrome 4:

⁶ (show top 50) (show all 65) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	BBS4	NM_033028.5(BBS4):c.884G>C (p.Arg295Pro)	SNV	Pathogenic	9145	rs121434632	15:73023915-73023915	15:72731574-72731574
2	BBS4	NM_033028.5(BBS4):c.77-216del	deletion	Pathogenic	9146	rs113994189	15:73001821-73001821	15:72709480-72709480
3	BBS4	NM_033028.5(BBS4):c.157-2A>G	SNV	Pathogenic	9147	rs113994192	15:73004583-73004583	15:72712242-72712242
4	BBS4	NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)	SNV	Pathogenic	9148	rs28938468	15:73027508-73027508	15:72735167-72735167
5	BBS4	NM_033028.5(BBS4):c.406-2A>G	SNV	Pathogenic	217435	rs113994191	15:73015133-73015133	15:72722792-72722792
6	BBS4	NM_033028.5(BBS4):c.791G>T (p.Cys264Phe)	SNV	Likely pathogenic	800967		15:73023725-73023725	15:72731384-72731384
7	BBS4	NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)	SNV	Likely pathogenic	397593	rs775710800	15:73023914-73023914	15:72731573-72731573
8	BBS4	NM_033028.5(BBS4):c.206_209CTAT[1] (p.Ile70fs)	short repeat	Likely pathogenic	684433		15:73004634-73004637	15:72712293-72712296
9	BBS4	NM_033028.5(BBS4):c.405+7A>G	SNV	Conflicting interpretations of pathogenicity	700994		15:73009198-73009198	15:72716857-72716857
10	BBS4	NM_033028.5(BBS4):c.1179C>T (p.Ala393=)	SNV	Conflicting interpretations of pathogenicity	417202	rs780560947	15:73028238-73028238	15:72735897-72735897
11	BBS4	NM_033028.5(BBS4):c.712-1G>A	SNV	Conflicting interpretations of pathogenicity	236484	rs377031435	15:73023645-73023645	15:72731304-72731304
12	BBS4	NM_033028.5(BBS4):c.63C>T (p.Pro21=)	SNV	Conflicting interpretations of pathogenicity	79889	rs267604309	15:72987556-72987556	15:72695215-72695215
13	BBS4	NM_033028.5(BBS4):c.1414A>G (p.Met472Val)	SNV	Conflicting interpretations of pathogenicity	143161	rs2277596	15:73029268-73029268	15:72736927-72736927
14	BBS4	NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)	SNV	Conflicting interpretations of pathogenicity	262136	rs147202164	15:73028295-73028295	15:72735954-72735954
15	BBS4	NM_033028.5(BBS4):c.37C>T (p.Pro13Ser)	SNV	Conflicting interpretations of pathogenicity	317058	rs151164191	15:72987530-72987530	15:72695189-72695189
16	BBS4	NM_033028.5(BBS4):c.1440G>A (p.Thr480=)	SNV	Conflicting interpretations of pathogenicity	317066	rs148682268	15:73029294-73029294	15:72736953-72736953
17	BBS4	NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)	SNV	Conflicting interpretations of pathogenicity	196570	rs75295839	15:73002101-73002101	15:72709760-72709760
18	BBS4	NM_033028.5(BBS4):c.208A>G (p.Ile70Val)	SNV	Conflicting interpretations of pathogenicity	197364	rs142692981	15:73004636-73004636	15:72712295-72712295
19	BBS4	NM_033028.5(BBS4):c.1215C>G (p.Leu405=)	SNV	Conflicting interpretations of pathogenicity	317063	rs3759869	15:73028274-73028274	15:72735933-72735933
20	BBS4	NM_033028.5(BBS4):c.*36G>A	SNV	Uncertain significance	317069	rs376830638	15:73029964-73029964	15:72737623-72737623
21	BBS4	NM_033028.5(BBS4):c.*611C>T	SNV	Uncertain significance	317074	rs41277724	15:73030539-73030539	15:72738198-72738198
22	BBS4	NM_033028.5(BBS4):c.*883C>T	SNV	Uncertain significance	317077	rs886051470	15:73030811-73030811	15:72738470-72738470
23	BBS4	NM_001252678.1(BBS4):c.-513G>C	SNV	Uncertain significance	317056	rs886051465	15:72978525-72978525	15:72686184-72686184
24	BBS4	NM_033028.5(BBS4):c.-14T>A	SNV	Uncertain significance	317057	rs146238636	15:72978555-72978555	15:72686214-72686214
25	BBS4	NM_033028.5(BBS4):c.752A>G (p.Asp251Gly)	SNV	Uncertain significance	317061	rs148843256	15:73023686-73023686	15:72731345-72731345
26	BBS4	NM_033028.5(BBS4):c.1107-7G>A	SNV	Uncertain significance	317062	rs766664389	15:73028159-73028159	15:72735818-72735818
27	BBS4	NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala)	SNV	Uncertain significance	317064	rs775122250	15:73029163-73029163	15:72736822-72736822
28	BBS4	NM_033028.5(BBS4):c.1473C>G (p.Phe491Leu)	SNV	Uncertain significance	317068	rs886051468	15:73029841-73029841	15:72737500-72737500
29	BBS4	NM_033028.5(BBS4):c.*149C>A	SNV	Uncertain significance	317071	rs578051922	15:73030077-73030077	15:72737736-72737736
30	BBS4	NM_033028.5(BBS4):c.*157C>G	SNV	Uncertain significance	317072	rs149263274	15:73030085-73030085	15:72737744-72737744
31	BBS4	NM_033028.5(BBS4):c.*643A>C	SNV	Uncertain significance	317075	rs886051469	15:73030571-73030571	15:72738230-72738230
32	BBS4	NM_033028.5(BBS4):c.*885T>C	SNV	Uncertain significance	317078	rs753912948	15:73030813-73030813	15:72738472-72738472
33	BBS4	NM_033028.5(BBS4):c.275C>T (p.Thr92Ile)	SNV	Uncertain significance	317059	rs761814377	15:73007686-73007686	15:72715345-72715345
34	BBS4	NM_033028.5(BBS4):c.587+1G>A	SNV	Uncertain significance	317060	rs886051466	15:73016997-73016997	15:72724656-72724656
35	BBS4	NM_033028.5(BBS4):c.1376A>G (p.Gln459Arg)	SNV	Uncertain significance	317065	rs766535822	15:73029230-73029230	15:72736889-72736889
36	BBS4	NM_033028.5(BBS4):c.*737T>C	SNV	Uncertain significance	884627		15:73030665-73030665	15:72738324-72738324
37	BBS4	NM_033028.5(BBS4):c.*770C>T	SNV	Uncertain significance	884628		15:73030698-73030698	15:72738357-72738357
38	BBS4	NM_033028.5(BBS4):c.*783A>G	SNV	Uncertain significance	884629		15:73030711-73030711	15:72738370-72738370
39	BBS4	NM_033028.5(BBS4):c.220+3A>T	SNV	Uncertain significance	887713		15:73004651-73004651	15:72712310-72712310
40	BBS4	NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)	SNV	Uncertain significance	631741	rs772548770	15:73027520-73027520	15:72735179-72735179
41	BBS4	NM_033028.5(BBS4):c.75dup (p.Ala26fs)	duplication	Uncertain significance	634524	rs1567398832	15:72987562-72987563	15:72695221-72695222
42	BBS4	NM_033028.5(BBS4):c.*581T>A	SNV	Uncertain significance	884625		15:73030509-73030509	15:72738168-72738168
43	BBS4	NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)	SNV	Uncertain significance	840690		15:73029879-73029879	15:72737538-72737538
44	BBS4	NM_033028.5(BBS4):c.1A>G (p.Met1Val)	SNV	Uncertain significance	886465		15:72978569-72978569	15:72686228-72686228
45	BBS4	NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)	SNV	Uncertain significance	884566		15:73007740-73007740	15:72715399-72715399
46	BBS4	NM_033028.5(BBS4):c.684A>C (p.Ala228=)	SNV	Uncertain significance	884567		15:73021998-73021998	15:72729657-72729657
47	BBS4	NM_033028.5(BBS4):c.1029C>T (p.Leu343=)	SNV	Uncertain significance	884568		15:73024060-73024060	15:72731719-72731719
48	BBS4	NM_033028.5(BBS4):c.1083C>T (p.Tyr361=)	SNV	Uncertain significance	885499		15:73027500-73027500	15:72735159-72735159
49	BBS4	NM_033028.5(BBS4):c.1512G>A (p.Ala504=)	SNV	Uncertain significance	886526		15:73029880-73029880	15:72737539-72737539
50	BBS4	NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg)	SNV	Uncertain significance	886527		15:73029924-73029924	15:72737583-72737583

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

⁷³

#	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

Sources

Expression for Bardet-Biedl Syndrome 4

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

Sources

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	Metabolism of fat-soluble vitamins ⁶⁵ Show member pathways Metabolism of vitamin K ⁶⁵ Retinoid metabolism and transport ⁶⁵ The retinoid cycle in cones (daylight vision) ⁶⁵ Visual phototransduction ⁶⁵ Vitamin D (calciferol) metabolism ⁶⁵	11.46	RGS9BP GUCA1B GUCA1A
2	Phototransduction ³⁶ Show member pathways Activation of the phototransduction cascade ⁶⁵ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁵ The phototransduction cascade ⁶⁵ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	10.99	RGS9BP GUCA1B GUCA1A

Sources

GO Terms for Bardet-Biedl Syndrome 4

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.73	TAS2R46 PCM1 OFD1 GUCA1B GUCA1A BBS4
2	centriole	GO:0005814	9.58	PCM1 OFD1 BBS4
3	non-motile cilium	GO:0097730	9.46	PCM1 BBS4
4	ciliary transition zone	GO:0035869	9.43	PCM1 BBS4
5	photoreceptor disc membrane	GO:0097381	9.37	GUCA1B GUCA1A
6	centriolar satellite	GO:0034451	9.33	PCM1 OFD1 BBS4
7	pericentriolar material	GO:0000242	9.32	PCM1 BBS4
8	ciliary basal body	GO:0036064	9.26	PIFO PCM1 OFD1 BBS4
9	photoreceptor outer segment	GO:0001750	8.92	RGS9BP GUCA1B GUCA1A BBS4

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

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.72	TAS2R46 RGS9BP GUCA1B GUCA1A BBS4
2	cilium assembly	GO:0060271	9.63	BBS4 OFD1 PCM1
3	centrosome cycle	GO:0007098	9.48	BBS4 PCM1
4	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.43	GUCA1B GUCA1A
5	protein localization to organelle	GO:0033365	9.4	PCM1 BBS4
6	protein localization to centrosome	GO:0071539	9.37	PCM1 BBS4
7	positive regulation of guanylate cyclase activity	GO:0031284	9.26	GUCA1B GUCA1A
8	visual perception	GO:0007601	9.26	RGS9BP GUCA1B GUCA1A BBS4
9	microtubule anchoring at centrosome	GO:0034454	9.16	PCM1 BBS4
10	cell projection organization	GO:0030030	8.92	PIFO PCM1 OFD1 BBS4

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

#	Name	GO ID	Score	Top Affiliating Genes
1	beta-tubulin binding	GO:0048487	9.32	PIFO BBS4
2	alpha-tubulin binding	GO:0043014	9.26	OFD1 BBS4
3	gamma-tubulin binding	GO:0043015	9.16	PIFO OFD1
4	calcium sensitive guanylate cyclase activator activity	GO:0008048	8.96	GUCA1B GUCA1A
5	guanylate cyclase regulator activity	GO:0030249	8.62	GUCA1B GUCA1A

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 FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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:

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

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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

ClinVar genetic disease variations for Bardet-Biedl Syndrome 4:

UniProtKB/Swiss-Prot 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