Bardet-Biedl Syndrome 17 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BBS17 MCID: BRD044 MIFTS: 48	Bardet-Biedl Syndrome 17 (BBS17) 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 17

MalaCards integrated aliases for Bardet-Biedl Syndrome 17:

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

Bbs17 ⁵⁸ ¹² ⁷⁶

Bardet-Biedl Syndrome, Type 17 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families have been reported (last curated october 2014)

HPO:

³³

bardet-biedl syndrome 17:
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:0110139

OMIM ⁵⁸ 615994

MeSH ⁴⁵ D020788

ICD10 ³⁴ Q87.89

MedGen ⁴³ C3714980 CN220306

SNOMED-CT via HPO ⁷⁰ 14821001 224958001 24614000 more

UMLS ⁷⁴ C3714980

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Summaries for Bardet-Biedl Syndrome 17

OMIM : ⁵⁸ BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615994)

MalaCards based summary : Bardet-Biedl Syndrome 17, also known as bbs17, is related to bardet-biedl syndrome and polydactyly. An important gene associated with Bardet-Biedl Syndrome 17 is LZTFL1 (Leucine Zipper Transcription Factor Like 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. Affiliated tissues include kidney, heart and liver, and related phenotypes are situs inversus totalis and obesity

Disease Ontology : ¹² A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21.

UniProtKB/Swiss-Prot : ⁷⁶ Bardet-Biedl syndrome 17: 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.

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Related Diseases for Bardet-Biedl Syndrome 17

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

(show all 44)

#	Related Disease	Score	Top Affiliating Genes
1	bardet-biedl syndrome	29.2	BBS1 BBS2 BBS4 BBS7 BBS9 LOC107986083
2	polydactyly	29.1	BBS1 BBS2 BBS4 BBS7 GLI2 SHH
3	nonsyndromic retinitis pigmentosa	10.3	BBS1 BBS2
4	bardet-biedl syndrome 14	10.2	BBS1 BBS2 BBS9
5	bardet-biedl syndrome 4	10.2	BBS1 BBS2 BBS4
6	bardet-biedl syndrome 13	10.2	BBS1 BBS2 BBS4
7	lymphatic malformations	10.2	PKD1 PKD2
8	multicystic dysplastic kidney	10.2	PKD1 PKD2
9	bardet-biedl syndrome 6	10.1	BBS1 BBS2 BBS4 BBS7
10	bardet-biedl syndrome 8	10.1	BBS1 BBS2 BBS4 BBS7
11	mckusick-kaufman syndrome	10.1	BBS1 BBS2 BBS4 BBS7
12	bardet-biedl syndrome 18	10.1	BBS1 BBS2 BBS4 BBS7
13	bardet-biedl syndrome 5	10.1	BBS2 RHO
14	bardet-biedl syndrome 2	10.0
15	bardet-biedl syndrome 10	10.0
16	bardet-biedl syndrome 11	10.0
17	bardet-biedl syndrome 12	10.0
18	central polydactyly	10.0
19	holoprosencephaly, recurrent infections, and monocytosis	10.0	GLI2 PTCH1
20	calcifying epithelial odontogenic tumor	10.0	GLI2 PTCH1
21	polycystic kidney disease 3 with or without polycystic liver disease	10.0	PKD1 PKD2
22	nodular medulloblastoma	10.0	GLI2 PTCH1
23	bardet-biedl syndrome 3	9.9	BBS1 BBS2 BBS4 BBS7 BBS9
24	polycystic liver disease 1 with or without kidney cysts	9.9	PKD1 PKD2 PTCH1
25	autosomal genetic disease	9.8	PKD1 PKD2 PTCH1
26	hydrolethalus syndrome 1	9.8	BBS2 BBS4 SHH
27	bardet-biedl syndrome 1	9.8	BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
28	pallister-hall syndrome	9.7	GLI2 SHH
29	fundus dystrophy	9.6	BBS1 BBS2 BBS4 PROM1 RHO
30	septopreoptic holoprosencephaly	9.6	GLI2 PTCH1 SHH
31	holoprosencephaly	9.6	GLI2 PTCH1 SHH
32	midline interhemispheric variant of holoprosencephaly	9.6	GLI2 PTCH1 SHH
33	alobar holoprosencephaly	9.6	GLI2 PTCH1 SHH
34	lobar holoprosencephaly	9.6	GLI2 PTCH1 SHH
35	microform holoprosencephaly	9.6	GLI2 PTCH1 SHH
36	semilobar holoprosencephaly	9.6	GLI2 PTCH1 SHH
37	greig cephalopolysyndactyly syndrome	9.6	GLI2 PTCH1 SHH
38	hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate	9.6	GLI2 SHH
39	basal cell nevus syndrome	9.6	GLI2 PTCH1 SHH
40	central nervous system cancer	9.5	PROM1 PTCH1 SHH
41	nervous system cancer	9.5	PROM1 PTCH1 SHH
42	basal cell carcinoma	9.4	GLI2 PTCH1 SHH
43	infratentorial cancer	9.3	GLI2 PROM1 PTCH1 SHH
44	medulloblastoma	9.2	GLI2 PROM1 PTCH1 SHH

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 17:

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Symptoms & Phenotypes for Bardet-Biedl Syndrome 17

Human phenotypes related to Bardet-Biedl Syndrome 17:

³³ (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	situs inversus totalis ³³	occasional (7.5%)	HP:0001696
2	obesity ³³		HP:0001513
3	global developmental delay ³³		HP:0001263
4	cognitive impairment ³³		HP:0100543
5	hypogonadism ³³		HP:0000135
6	brachydactyly ³³		HP:0001156
7	renal cyst ³³		HP:0000107
8	stage 5 chronic kidney disease ³³		HP:0003774
9	cone/cone-rod dystrophy ³³		HP:0000548
10	retinal degeneration ³³		HP:0000546
11	external genital hypoplasia ³³		HP:0003241
12	mesoaxial polydactyly ³³		HP:0100260

Symptoms via clinical synopsis from OMIM:

⁵⁸

Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism
hypogenitalism

Head And Neck Eyes:
retinal degeneration
cone-rod dystrophy

Genitourinary Kidneys:
chronic renal failure
cystic kidneys

Cardiovascular Heart:
dextrocardia (in some patients)

Neurologic Central Nervous System:
cognitive impairment
learning disabilities
delayed development

Skeletal Hands:
brachydactyly
mesoaxial polydactyly
polydactyly

Skeletal Feet:
polydactyly

Abdomen:
situs inversus (in some patients)

Clinical features from OMIM:

615994

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 17:

⁴⁷ (show all 21)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.35	BBS1 BBS2 BBS4 BBS7 DRD1 GLI2
2	growth/size/body region	MP:0005378	10.35	BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
3	behavior/neurological	MP:0005386	10.33	BBS1 BBS2 BBS4 BBS7 DRD1 GLI2
4	cardiovascular system	MP:0005385	10.28	BBS1 BBS4 BBS7 DRD1 PKD1 PKD2
5	homeostasis/metabolism	MP:0005376	10.25	BBS1 BBS2 BBS4 BBS7 DRD1 GLI2
6	nervous system	MP:0003631	10.25	BBS1 BBS2 BBS4 BBS7 DRD1 GLI2
7	mortality/aging	MP:0010768	10.23	BBS1 BBS4 BBS7 DRD1 GLI2 PKD1
8	digestive/alimentary	MP:0005381	10.21	BBS2 BBS4 BBS7 DRD1 GLI2 PKD1
9	adipose tissue	MP:0005375	10.2	BBS1 BBS2 BBS4 BBS9 DRD1 LZTFL1
10	craniofacial	MP:0005382	10.11	BBS1 BBS4 BBS7 GLI2 PKD1 PTCH1
11	integument	MP:0010771	10.1	BBS2 BBS4 DRD1 GLI2 LZTFL1 PKD1
12	embryo	MP:0005380	10.09	BBS4 BBS7 GLI2 PKD1 PKD2 PTCH1
13	limbs/digits/tail	MP:0005371	10.08	BBS1 BBS2 BBS7 BBS9 GLI2 PKD1
14	normal	MP:0002873	10.02	BBS2 BBS4 DRD1 GLI2 PKD1 PKD2
15	hearing/vestibular/ear	MP:0005377	9.92	BBS1 BBS4 GLI2 PTCH1 SHH
16	renal/urinary system	MP:0005367	9.92	BBS1 BBS2 BBS4 BBS7 PKD1 PKD2
17	no phenotypic analysis	MP:0003012	9.88	GLI2 PROM1 PTCH1 RHO SHH STXBP1
18	reproductive system	MP:0005389	9.86	BBS1 BBS2 BBS4 BBS7 GLI2 PKD1
19	respiratory system	MP:0005388	9.76	BBS1 BBS4 DRD1 GLI2 PKD1 PKD2
20	taste/olfaction	MP:0005394	9.43	BBS1 BBS2 BBS4 BBS7 PTCH1 SHH
21	vision/eye	MP:0005391	9.36	BBS1 BBS2 BBS4 BBS7 DRD1 GLI2

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Drugs & Therapeutics for Bardet-Biedl Syndrome 17

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 17

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Genetic Tests for Bardet-Biedl Syndrome 17

Genetic tests related to Bardet-Biedl Syndrome 17:

#	Genetic test	Affiliating Genes
1	Bardet-Biedl Syndrome 17 ³⁰	LZTFL1

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Anatomical Context for Bardet-Biedl Syndrome 17

MalaCards organs/tissues related to Bardet-Biedl Syndrome 17:

⁴²

Kidney, Heart, Liver, Eye, Thyroid

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Publications for Bardet-Biedl Syndrome 17

Articles related to Bardet-Biedl Syndrome 17:

#	Title	Authors	Year
1	Lztfl1/BBS17 controls energy homeostasis by regulating the leptin signaling in the hypothalamic neurons. ( 30423168 )	Wei Q...Liu ZP	2018
2	Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. ( 23692385 )	Schaefer E...Dollfus H	2014
3	Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. ( 22510444 )	Marion V...Dollfus H	2012
4	Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family. ( 17163542 )	Deffert C...Gerard-Blanluet M	2007

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Genes for Bardet-Biedl Syndrome 17

Genes related to Bardet-Biedl Syndrome 17 (1 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LZTFL1	Leucine Zipper Transcription Factor Like 1	Protein Coding	1337.15	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	22510444 17163542 23692385
2	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	17.05	DISEASES inferred ¹⁵
3	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	16.76	DISEASES inferred ¹⁵
4	STX3	Syntaxin 3	Protein Coding	15.99	DISEASES inferred ¹⁵
5	BBS9	Bardet-Biedl Syndrome 9	Protein Coding	15.83	DISEASES inferred ¹⁵
6	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	15.53	DISEASES inferred ¹⁵
7	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	15.37	DISEASES inferred ¹⁵
8	STXBP1	Syntaxin Binding Protein 1	Protein Coding	15.13	DISEASES inferred ¹⁵
9	PKD2	Polycystin 2, Transient Receptor Potential Cation Channel	Protein Coding	14.52	DISEASES inferred ¹⁵
10	PKD1	Polycystin 1, Transient Receptor Potential Channel Interacting	Protein Coding	14.46	DISEASES inferred ¹⁵
11	GLI2	GLI Family Zinc Finger 2	Protein Coding	14.39	DISEASES inferred ¹⁵
12	RHO	Rhodopsin	Protein Coding	13.94	DISEASES inferred ¹⁵
13	DRD1	Dopamine Receptor D1	Protein Coding	13.89	DISEASES inferred ¹⁵
14	PTCH1	Patched 1	Protein Coding	13.74	DISEASES inferred ¹⁵
15	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	13.54	DISEASES inferred ¹⁵
16	PROM1	Prominin 1	Protein Coding	13.32	DISEASES inferred ¹⁵
17	LOC107986083	Uncharacterized LOC107986083	RNA Gene	7.68	GeneCards inferred via : Variants (show sections)

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Variations for Bardet-Biedl Syndrome 17

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 17:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	LZTFL1	p.Leu87Pro	VAR_070104	rs515726135

ClinVar genetic disease variations for Bardet-Biedl Syndrome 17:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LZTFL1	NM_020347.3(LZTFL1): c.402_406delAAAGC (p.Pro136Thrfs)	deletion	Pathogenic	rs431825171	GRCh37	Chromosome 3, 45874592: 45874596
2	LZTFL1	NM_020347.3(LZTFL1): c.402_406delAAAGC (p.Pro136Thrfs)	deletion	Pathogenic	rs431825171	GRCh38	Chromosome 3, 45833100: 45833104
3	LZTFL1	NM_020347.3(LZTFL1): c.260T> C (p.Leu87Pro)	single nucleotide variant	Pathogenic	rs515726135	GRCh37	Chromosome 3, 45877145: 45877145
4	LZTFL1	NM_020347.3(LZTFL1): c.260T> C (p.Leu87Pro)	single nucleotide variant	Pathogenic	rs515726135	GRCh38	Chromosome 3, 45835653: 45835653
5	LZTFL1	NM_020347.3(LZTFL1): c.778G> T (p.Glu260Ter)	single nucleotide variant	Pathogenic	rs515726136	GRCh38	Chromosome 3, 45827459: 45827459
6	LZTFL1	NM_020347.3(LZTFL1): c.778G> T (p.Glu260Ter)	single nucleotide variant	Pathogenic	rs515726136	GRCh37	Chromosome 3, 45868951: 45868951
7	LZTFL1	NM_020347.3(LZTFL1): c.64C> T (p.Arg22Cys)	single nucleotide variant	Uncertain significance	rs1335038702	GRCh38	Chromosome 3, 45837991: 45837991
8	LZTFL1	NM_020347.3(LZTFL1): c.64C> T (p.Arg22Cys)	single nucleotide variant	Uncertain significance	rs1335038702	GRCh37	Chromosome 3, 45879483: 45879483

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Expression for Bardet-Biedl Syndrome 17

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 17.

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Pathways for Bardet-Biedl Syndrome 17

Pathways related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance ⁶⁷ Show member pathways Cilium Assembly ⁶⁷	12.34	BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
2	Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling ⁶⁶ Show member pathways Basal cell carcinoma ³⁸ Wnt signaling pathway ³⁸	12.1	GLI2 PTCH1 SHH
3	Wnt / Hedgehog / Notch ⁴	11.88	GLI2 PROM1 PTCH1 SHH
4	Hedgehog Pathway ⁷³ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁷ Hedgehog signaling events mediated by Gli proteins ¹ Hedgehog signaling pathway ³⁸ Hedgehog Signaling Pathway ¹	11.69	GLI2 PTCH1 SHH
5	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	11.31	BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
6	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²³	11.02	GLI2 PTCH1 SHH
7	Signaling events mediated by the Hedgehog family ¹ Show member pathways HHAT G278V abrogates palmitoylation of Hh-Np ⁶⁷ Ligand-receptor interactions ⁶⁷	10.85	GLI2 PTCH1 SHH
8	Glypican 3 network ¹	10.27	PTCH1 SHH

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GO Terms for Bardet-Biedl Syndrome 17

Cellular components related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.96	BBS1 BBS2 BBS4 BBS7 BBS9 GLI2
2	microtubule organizing center	GO:0005815	9.91	BBS1 BBS2 BBS4 BBS7 BBS9
3	motile cilium	GO:0031514	9.77	BBS2 BBS4 GLI2 PKD1 PKD2
4	photoreceptor outer segment	GO:0001750	9.73	BBS4 BBS7 PROM1 RHO
5	ciliary basal body	GO:0036064	9.72	BBS1 BBS2 BBS4 BBS7 PKD2
6	axoneme	GO:0005930	9.71	BBS1 BBS7 GLI2
7	non-motile cilium	GO:0097730	9.65	BBS4 DRD1 PKD2
8	cilium	GO:0005929	9.65	BBS1 BBS2 BBS4 BBS7 BBS9 GLI2
9	pericentriolar material	GO:0000242	9.57	BBS4 BBS9
10	Golgi-associated vesicle membrane	GO:0030660	9.56	PKD1 RHO
11	photoreceptor outer segment membrane	GO:0042622	9.55	PROM1 RHO
12	BBSome	GO:0034464	9.55	BBS1 BBS2 BBS4 BBS7 BBS9
13	presynaptic active zone membrane	GO:0048787	9.52	STX3 STXBP1
14	polycystin complex	GO:0002133	9.46	PKD1 PKD2
15	ciliary membrane	GO:0060170	9.32	BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
16	membrane	GO:0016020	10.37	BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
17	plasma membrane	GO:0005886	10.25	BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
18	cytoskeleton	GO:0005856	10.05	BBS1 BBS2 BBS4 BBS7 BBS9 STXBP1

Biological processes related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:

(show top 50) (show all 58)

#	Name	GO ID	Score	Top Affiliating Genes
1	heart development	GO:0007507	9.93	BBS7 GLI2 PKD1 PKD2 SHH
2	kidney development	GO:0001822	9.87	GLI2 PKD1 PKD2 SHH
3	protein localization	GO:0008104	9.85	BBS2 BBS4 BBS7
4	determination of left/right symmetry	GO:0007368	9.85	BBS7 PKD2 SHH
5	hippocampus development	GO:0021766	9.85	BBS2 BBS4 DRD1
6	cilium assembly	GO:0060271	9.85	BBS1 BBS2 BBS4 BBS7 BBS9
7	pattern specification process	GO:0007389	9.84	GLI2 PTCH1 SHH
8	neural tube development	GO:0021915	9.81	GLI2 PKD1 PKD2
9	branching involved in ureteric bud morphogenesis	GO:0001658	9.8	PKD2 PTCH1 SHH
10	fat cell differentiation	GO:0045444	9.78	BBS2 BBS4 BBS7 BBS9
11	dorsal/ventral pattern formation	GO:0009953	9.77	GLI2 PTCH1 SHH
12	cell projection organization	GO:0030030	9.77	BBS1 BBS2 BBS4 BBS7 BBS9
13	protein localization to cilium	GO:0061512	9.73	BBS1 BBS4 BBS9
14	smoothened signaling pathway	GO:0007224	9.73	BBS7 GLI2 PTCH1 SHH
15	anatomical structure development	GO:0048856	9.72	GLI2 SHH
16	embryonic placenta development	GO:0001892	9.72	PKD1 PKD2
17	regulation of smoothened signaling pathway	GO:0008589	9.72	GLI2 PTCH1
18	anatomical structure formation involved in morphogenesis	GO:0048646	9.72	GLI2 SHH
19	brain morphogenesis	GO:0048854	9.72	BBS2 BBS4
20	branching morphogenesis of an epithelial tube	GO:0048754	9.72	GLI2 PKD1 SHH
21	hindbrain development	GO:0030902	9.71	GLI2 SHH
22	vasodilation	GO:0042311	9.71	BBS2 DRD1
23	osteoblast development	GO:0002076	9.71	GLI2 SHH
24	protein localization to organelle	GO:0033365	9.71	BBS2 BBS4
25	long-term synaptic depression	GO:0060292	9.71	DRD1 STXBP1
26	somite development	GO:0061053	9.7	PTCH1 SHH
27	digestive tract morphogenesis	GO:0048546	9.7	BBS7 SHH
28	prostate gland development	GO:0030850	9.7	PTCH1 SHH
29	detection of mechanical stimulus	GO:0050982	9.7	PKD1 PKD2
30	melanosome transport	GO:0032402	9.7	BBS2 BBS4 BBS7
31	placenta blood vessel development	GO:0060674	9.69	PKD1 PKD2
32	negative regulation of multicellular organism growth	GO:0040015	9.69	BBS2 PTCH1
33	cytoplasmic sequestering of transcription factor	GO:0042994	9.69	PKD1 PKD2
34	spinal cord motor neuron differentiation	GO:0021522	9.69	GLI2 PTCH1 SHH
35	response to leptin	GO:0044321	9.68	BBS2 BBS4
36	positive regulation of T cell differentiation in thymus	GO:0033089	9.68	GLI2 SHH
37	leptin-mediated signaling pathway	GO:0033210	9.68	BBS2 BBS4
38	lung epithelium development	GO:0060428	9.67	PKD1 SHH
39	striatum development	GO:0021756	9.67	BBS2 BBS4 DRD1
40	mesonephric tubule development	GO:0072164	9.66	PKD1 PKD2
41	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	GO:0060831	9.65	GLI2 PTCH1
42	mesonephric duct development	GO:0072177	9.65	PKD1 PKD2
43	regulation of cilium beat frequency involved in ciliary motility	GO:0060296	9.65	BBS2 BBS4
44	mammary gland duct morphogenesis	GO:0060603	9.64	GLI2 PTCH1
45	spinal cord dorsal/ventral patterning	GO:0021513	9.64	GLI2 SHH
46	visual perception	GO:0007601	9.63	BBS1 BBS2 BBS4 BBS7 BBS9 RHO
47	hindgut morphogenesis	GO:0007442	9.62	GLI2 SHH
48	metanephric ascending thin limb development	GO:0072218	9.62	PKD1 PKD2
49	heart looping	GO:0001947	9.62	BBS4 BBS7 PKD2 SHH
50	negative regulation of appetite by leptin-mediated signaling pathway	GO:0038108	9.61	BBS2 BBS4

Molecular functions related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	actinin binding	GO:0042805	9.32	PKD2 PROM1
2	smoothened binding	GO:0005119	9.26	BBS1 PTCH1
3	patched binding	GO:0005113	9.13	BBS1 PTCH1 SHH
4	RNA polymerase II repressing transcription factor binding	GO:0001103	8.92	BBS1 BBS2 BBS4 BBS7
5	protein binding	GO:0005515	10.06	BBS1 BBS2 BBS4 BBS7 BBS9 DRD1

Sources

Sources for Bardet-Biedl Syndrome 17

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 17 (BBS17)

Aliases & Classifications for Bardet-Biedl Syndrome 17

MalaCards integrated aliases for Bardet-Biedl Syndrome 17:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Bardet-Biedl Syndrome 17

Related Diseases for Bardet-Biedl Syndrome 17

Diseases in the Bardet-Biedl Syndrome family:

Diseases related to Bardet-Biedl Syndrome 17 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 17:

Symptoms & Phenotypes for Bardet-Biedl Syndrome 17

Human phenotypes related to Bardet-Biedl Syndrome 17:

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UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 17:

ClinVar genetic disease variations for Bardet-Biedl Syndrome 17:

Expression for Bardet-Biedl Syndrome 17

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Pathways related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:

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Cellular components related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:

Biological processes related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:

Molecular functions related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:

Sources for Bardet-Biedl Syndrome 17