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

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Aliases & Classifications for Bardet-Biedl Syndrome 17

MalaCards integrated aliases for Bardet-Biedl Syndrome 17:

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

Bbs17 ⁵⁶ ¹² ⁷³

Bardet-Biedl Syndrome, Type 17 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

bardet-biedl syndrome 17:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110139

OMIM ⁵⁶ 615994

OMIM Phenotypic Series ⁵⁶ PS209900

MeSH ⁴³ D020788

ICD10 ³² Q87.89

MedGen ⁴¹ C3714980 CN220306

SNOMED-CT via HPO ⁶⁸ 14821001 224958001 24614000 more

UMLS ⁷¹ C3714980

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Summaries for Bardet-Biedl Syndrome 17

OMIM : ⁵⁶ 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 ciliopathy 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 Cargo trafficking to the periciliary membrane. Affiliated tissues include heart and kidney, and related phenotypes are situs inversus totalis and global developmental delay

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 : ⁷³ 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 top 50) (show all 51)

#	Related Disease	Score	Top Affiliating Genes
1	ciliopathy	30.3	BBS7 BBS1
2	polydactyly	26.6	TTC8 MKS1 LZTFL1 BBS7 BBS5 BBS4
3	bardet-biedl syndrome	25.0	WDPCP TTC8 MKS1 LZTFL1 IFT27 BBS9
4	retinitis pigmentosa	24.9	WDPCP TTC8 MKS1 LZTFL1 IFT27 BBS9
5	neuroretinitis	10.2
6	retinitis	10.2
7	central polydactyly	10.2
8	borjeson-forssman-lehmann syndrome	10.1	BBS12 BBS10
9	bardet-biedl syndrome 12	10.0	WDPCP BBS12
10	meckel syndrome, type 3	10.0	MKS1 BBS1
11	polycystic kidney disease	9.9	BBS5 BBS4 BBS1
12	bardet-biedl syndrome 9	9.8	TTC8 BBS9
13	joubert syndrome 4	9.8	MKS1 BBS2
14	nephronophthisis 2	9.7	MKS1 BBS4 BBS1
15	retinitis pigmentosa 74	9.7	TTC8 BBS2
16	meckel syndrome, type 6	9.7	WDPCP MKS1
17	retinal degeneration	9.6	BBS7 BBS4 BBS10 BBS1
18	tetralogy of fallot	9.6	BBS7 BBS4 BBS2 BBS1
19	nonsyndromic retinitis pigmentosa	9.6	TTC8 BBS2 BBS1
20	night blindness, congenital stationary, autosomal dominant 3	9.5	BBS9 BBS5 BBS4 BBS12 BBS10
21	polycystic kidney disease 4 with or without polycystic liver disease	9.5	MKS1 BBS4 BBS2 BBS1
22	physical disorder	9.4	MKS1 BBS4 BBS2 BBS1
23	bardet-biedl syndrome 10	9.4	BBS4 BBS2 BBS12 BBS10 BBS1
24	orofaciodigital syndrome vi	9.4	WDPCP MKS1
25	visceral heterotaxy	9.3	MKS1 BBS7 BBS4 BBS2 BBS1
26	cystic kidney disease	9.1	MKS1 IFT27 BBS4 BBS2 BBS1
27	kartagener syndrome	9.1	MKS1 IFT27 BBS4 BBS2 BBS1
28	inherited retinal disorder	9.1	BBS9 BBS7 BBS5 BBS2 BBS12 BBS10
29	alstrom syndrome	9.1	BBS7 BBS5 BBS4 BBS2 BBS12 BBS10
30	body mass index quantitative trait locus 11	8.9	TTC8 BBS4 BBS2 BBS1 BBIP1
31	primary ciliary dyskinesia	8.8	MKS1 IFT27 BBS5 BBS4 BBS2 BBS1
32	joubert syndrome 1	8.8	MKS1 IFT27 BBS5 BBS4 BBS2 BBS1
33	senior-loken syndrome 1	8.8	MKS1 BBS5 BBS4 BBS2 BBS12 BBS10
34	nephronophthisis	8.7	MKS1 IFT27 BBS7 BBS5 BBS4 BBS2
35	cranioectodermal dysplasia 1	8.6	MKS1 IFT27 BBS9 BBS4 BBS2 BBS1
36	mckusick-kaufman syndrome	8.4	TTC8 BBS7 BBS5 BBS4 BBS2 BBS12
37	retinal disease	8.4	TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
38	bardet-biedl syndrome 1	8.1	WDPCP LZTFL1 BBS9 BBS7 BBS4 BBS2
39	leber plus disease	8.0	TTC8 MKS1 BBS9 BBS5 BBS4 BBS2
40	bardet-biedl syndrome 15	7.6	WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
41	meckel syndrome, type 1	7.3	WDPCP MKS1 IFT27 BBS9 BBS7 BBS5
42	bardet-biedl syndrome 19	7.2	WDPCP TTC8 LZTFL1 IFT27 BBS9 BBS7
43	bardet-biedl syndrome 13	7.1	WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
44	fundus dystrophy	6.9	WDPCP TTC8 MKS1 IFT27 BBS9 BBS7
45	bardet-biedl syndrome 8	6.9	TTC8 MKS1 LZTFL1 IFT27 BBS9 BBS7
46	bardet-biedl syndrome 3	6.9	TTC8 MKS1 LZTFL1 IFT27 BBS9 BBS7
47	bardet-biedl syndrome 11	6.9	WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
48	bardet-biedl syndrome 16	6.8	WDPCP TTC8 MKS1 LZTFL1 IFT27 BBS9
49	bardet-biedl syndrome 18	6.5	WDPCP TTC8 MKS1 LZTFL1 IFT27 BBS9
50	bardet-biedl syndrome 14	6.5	WDPCP TTC8 MKS1 LZTFL1 IFT27 BBS9

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:

³¹ (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	situs inversus totalis ³¹	occasional (7.5%)	HP:0001696
2	global developmental delay ³¹		HP:0001263
3	cognitive impairment ³¹		HP:0100543
4	obesity ³¹		HP:0001513
5	brachydactyly ³¹		HP:0001156
6	hypogonadism ³¹		HP:0000135
7	renal cyst ³¹		HP:0000107
8	retinal degeneration ³¹		HP:0000546
9	cone/cone-rod dystrophy ³¹		HP:0000548
10	stage 5 chronic kidney disease ³¹		HP:0003774
11	external genital hypoplasia ³¹		HP:0003241
12	mesoaxial polydactyly ³¹		HP:0100260

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
cognitive impairment
learning disabilities
delayed development

Skeletal Hands:
brachydactyly
polydactyly
mesoaxial polydactyly

Head And Neck Eyes:
retinal degeneration
cone-rod dystrophy

Genitourinary Kidneys:
chronic renal failure
cystic kidneys

Cardiovascular Heart:
dextrocardia (in some patients)

Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism
hypogenitalism

Skeletal Feet:
polydactyly

Abdomen:
situs inversus (in some patients)

Clinical features from OMIM:

615994

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 17:

⁴⁵ (show all 11)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.25	BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
2	cellular	MP:0005384	10.18	BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
3	nervous system	MP:0003631	10.13	BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
4	adipose tissue	MP:0005375	10.1	BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
5	craniofacial	MP:0005382	10	BBS1 BBS4 BBS7 IFT27 MKS1 TTC8
6	digestive/alimentary	MP:0005381	9.91	BBS2 BBS4 BBS7 IFT27 MKS1 WDPCP
7	limbs/digits/tail	MP:0005371	9.91	BBS1 BBS2 BBS7 BBS9 IFT27 MKS1
8	renal/urinary system	MP:0005367	9.91	BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
9	respiratory system	MP:0005388	9.63	BBS1 BBS4 IFT27 MKS1 TTC8 WDPCP
10	vision/eye	MP:0005391	9.4	BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
11	taste/olfaction	MP:0005394	9.35	BBS1 BBS2 BBS4 BBS7 TTC8

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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 ²⁹	LZTFL1

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Anatomical Context for Bardet-Biedl Syndrome 17

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

⁴⁰

Heart, Kidney

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Publications for Bardet-Biedl Syndrome 17

Articles related to Bardet-Biedl Syndrome 17:

(show all 11)

#	Title	Authors	PMID	Year
1	Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. ⁵⁶ ⁶ ⁶¹	Schaefer E...Dollfus H	23692385	2014
2	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. ⁶ ⁶¹ ⁵⁶	Marion V...Dollfus H	22510444	2012
3	Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family. ⁵⁶ ⁶	Deffert C...Gerard-Blanluet M	17163542	2007
4	Bardet-Biedl Syndrome ⁶ ⁶¹	Forsythe E...Beales PL	20301537	2003
5	Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. ⁶	Badano JL...Katsanis N	12567324	2003
6	Limited time window for retinal gene therapy in a preclinical model of ciliopathy. ⁶¹	Datta P...Seo S	32568387	2020
7	Lztfl1/BBS17 controls energy homeostasis by regulating the leptin signaling in the hypothalamic neurons. ⁶¹	Wei Q...Liu ZP	30423168	2018
8	Depletion of BBS Protein LZTFL1 Affects Growth and Causes Retinal Degeneration in Mice. ⁶¹	Jiang J...Natarajan V	27312011	2016
9	Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome. ⁶¹	Datta P...Seo S	26216965	2015
10	Bardet-Biedl syndrome: A rare genetic disease. ⁶¹	Castro-Sanchez S...Valverde D	27625843	2013
11	BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. ⁶¹	Zhang Q...Sheffield VC	23572516	2013

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Genes for Bardet-Biedl Syndrome 17

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

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LZTFL1	Leucine Zipper Transcription Factor Like 1	Protein Coding	1326.93	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	17163542 22510444 23692385
2	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	8.14	DISEASES inferred ¹⁵
3	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	8.09	DISEASES inferred ¹⁵
4	BBS12	Bardet-Biedl Syndrome 12	Protein Coding	8.08	DISEASES inferred ¹⁵
5	BBS9	Bardet-Biedl Syndrome 9	Protein Coding	7.99	DISEASES inferred ¹⁵
6	BBS5	Bardet-Biedl Syndrome 5	Protein Coding	7.99	DISEASES inferred ¹⁵
7	BBS10	Bardet-Biedl Syndrome 10	Protein Coding	7.89	DISEASES inferred ¹⁵
8	BBIP1	BBSome Interacting Protein 1	Protein Coding	7.85	DISEASES inferred ¹⁵
9	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	7.7	DISEASES inferred ¹⁵
10	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	7.6	DISEASES inferred ¹⁵
11	IFT27	Intraflagellar Transport 27	Protein Coding	7.58	DISEASES inferred ¹⁵
12	WDPCP	WD Repeat Containing Planar Cell Polarity Effector	Protein Coding	7.38	DISEASES inferred ¹⁵
13	TTC8	Tetratricopeptide Repeat Domain 8	Protein Coding	7.2	DISEASES inferred ¹⁵
14	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	6.89	DISEASES inferred ¹⁵

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Variations for Bardet-Biedl Syndrome 17

ClinVar genetic disease variations for Bardet-Biedl Syndrome 17:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	LZTFL1	NM_020347.4(LZTFL1):c.402_406del (p.Pro136fs)	deletion	Pathogenic	39770	rs431825171	3:45874592-45874596	3:45833100-45833104
2	LZTFL1	NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)	SNV	Pathogenic	126380	rs515726135	3:45877145-45877145	3:45835653-45835653
3	LZTFL1	NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)	SNV	Pathogenic	126381	rs515726136	3:45868951-45868951	3:45827459-45827459
4	LZTFL1	NM_001276378.1(LZTFL1):c.-162G>A	SNV	Likely pathogenic	828163		3:45954636-45954636	3:45913144-45913144
5	LZTFL1	NM_020347.4(LZTFL1):c.64C>T (p.Arg22Cys)	SNV	Uncertain significance	523081	rs1335038702	3:45879483-45879483	3:45837991-45837991

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

⁷³

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

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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 ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.16	TTC8 MKS1 LZTFL1 IFT27 BBS9 BBS7
2	Cargo trafficking to the periciliary membrane ⁶⁵ Show member pathways ARL13B-mediated ciliary trafficking of INPP5E ⁶⁵ BBSome-mediated cargo-targeting to cilium ⁶⁵ Trafficking of myristoylated proteins to the cilium ⁶⁵ VxPx cargo-targeting to cilium ⁶⁵	11.73	TTC8 LZTFL1 BBS9 BBS7 BBS5 BBS4

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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 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.26	WDPCP TTC8 MKS1 LZTFL1 IFT27 BBS9
2	cytosol	GO:0005829	10.21	TTC8 MKS1 LZTFL1 BBS9 BBS7 BBS5
3	cytoskeleton	GO:0005856	10.06	WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
4	microtubule organizing center	GO:0005815	9.97	TTC8 MKS1 BBS9 BBS7 BBS5 BBS4
5	centrosome	GO:0005813	9.91	TTC8 MKS1 IFT27 BBS7 BBS4 BBS1
6	ciliary basal body	GO:0036064	9.87	TTC8 MKS1 BBS7 BBS5 BBS4 BBS2
7	ciliary membrane	GO:0060170	9.8	TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
8	cell projection	GO:0042995	9.77	WDPCP TTC8 MKS1 IFT27 BBS9 BBS7
9	BBSome	GO:0034464	9.76	TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
10	motile cilium	GO:0031514	9.71	IFT27 BBS4 BBS2
11	axoneme	GO:0005930	9.67	WDPCP BBS7 BBS1
12	ciliary transition zone	GO:0035869	9.63	MKS1 BBS9 BBS4
13	photoreceptor connecting cilium	GO:0032391	9.56	TTC8 BBS4
14	non-motile cilium	GO:0097730	9.55	TTC8 BBS4
15	pericentriolar material	GO:0000242	9.52	BBS9 BBS4
16	cilium	GO:0005929	9.44	WDPCP TTC8 MKS1 IFT27 BBS9 BBS7

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

(show all 30)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	10	BBS9 BBS7 BBS5 BBS4 BBS2 BBS10
2	protein transport	GO:0015031	9.91	TTC8 IFT27 BBS9 BBS7 BBS5 BBS4
3	visual perception	GO:0007601	9.87	BBS9 BBS7 BBS5 BBS4 BBS2 BBS10
4	fat cell differentiation	GO:0045444	9.8	TTC8 BBS9 BBS7 BBS4 BBS2
5	photoreceptor cell maintenance	GO:0045494	9.77	BBS4 BBS2 BBS12 BBS10 BBS1
6	protein localization	GO:0008104	9.75	BBS7 BBS4 BBS2
7	smoothened signaling pathway	GO:0007224	9.74	WDPCP IFT27 BBS7
8	melanosome transport	GO:0032402	9.73	BBS7 BBS5 BBS4 BBS2
9	heart looping	GO:0001947	9.72	BBS7 BBS5 BBS4
10	non-motile cilium assembly	GO:1905515	9.7	TTC8 MKS1 BBS7 BBS4 BBS2 BBS10
11	intracellular transport	GO:0046907	9.69	BBS7 BBS5 BBS4
12	protein localization to cilium	GO:0061512	9.67	BBS9 BBS4 BBS1
13	positive regulation of multicellular organism growth	GO:0040018	9.65	BBS4 BBS2
14	inner ear receptor cell stereocilium organization	GO:0060122	9.65	TTC8 MKS1 IFT27
15	cilium assembly	GO:0060271	9.65	WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
16	adult behavior	GO:0030534	9.64	BBS4 BBS2
17	Golgi to plasma membrane protein transport	GO:0043001	9.64	BBS2 BBS1
18	intraciliary transport	GO:0042073	9.63	IFT27 BBS12
19	motile cilium assembly	GO:0044458	9.63	MKS1 BBS5
20	protein localization to organelle	GO:0033365	9.62	BBS4 BBS2
21	brain morphogenesis	GO:0048854	9.62	BBS4 BBS2
22	chaperone-mediated protein complex assembly	GO:0051131	9.61	BBS12 BBS10
23	regulation of stress fiber assembly	GO:0051492	9.61	TTC8 BBS4
24	striatum development	GO:0021756	9.6	BBS4 BBS2
25	response to leptin	GO:0044321	9.59	BBS4 BBS2
26	leptin-mediated signaling pathway	GO:0033210	9.58	BBS4 BBS2
27	regulation of cilium beat frequency involved in ciliary motility	GO:0060296	9.56	BBS4 BBS2
28	negative regulation of appetite by leptin-mediated signaling pathway	GO:0038108	9.54	BBS4 BBS2
29	sensory processing	GO:0050893	9.52	TTC8 BBS4
30	cell projection organization	GO:0030030	9.32	WDPCP TTC8 MKS1 BBS9 BBS7 BBS5

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.8	WDPCP TTC8 MKS1 LZTFL1 IFT27 BBS9
2	RNA polymerase II repressing transcription factor binding	GO:0001103	9.17	TTC8 BBS7 BBS5 BBS4 BBS2 BBS10

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 17:

Drugs & Therapeutics for Bardet-Biedl Syndrome 17

Genetic Tests for Bardet-Biedl Syndrome 17

Genetic tests related to Bardet-Biedl Syndrome 17:

Anatomical Context for Bardet-Biedl Syndrome 17

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

Publications for Bardet-Biedl Syndrome 17

Articles related to Bardet-Biedl Syndrome 17:

Genes for Bardet-Biedl Syndrome 17

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

Variations for Bardet-Biedl Syndrome 17

ClinVar genetic disease variations for Bardet-Biedl Syndrome 17:

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

Expression for Bardet-Biedl Syndrome 17

Pathways for Bardet-Biedl Syndrome 17

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

GO Terms for Bardet-Biedl Syndrome 17

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