BBS17
MCID: BRD044
MIFTS: 42

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

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:



External Ids:

Disease Ontology 12 DOID:0110139
OMIM 56 615994
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
UMLS 71 C3714980

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.

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:



Diseases related to Bardet-Biedl Syndrome 17

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

Drugs & Therapeutics for Bardet-Biedl Syndrome 17

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

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

Anatomical Context for Bardet-Biedl Syndrome 17

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

40
Heart, Kidney

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
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
22510444 2012
3
Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family. 56 6
17163542 2007
4
Bardet-Biedl Syndrome 6 61
20301537 2003
5
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 6
12567324 2003
6
Limited time window for retinal gene therapy in a preclinical model of ciliopathy. 61
32568387 2020
7
Lztfl1/BBS17 controls energy homeostasis by regulating the leptin signaling in the hypothalamic neurons. 61
30423168 2018
8
Depletion of BBS Protein LZTFL1 Affects Growth and Causes Retinal Degeneration in Mice. 61
27312011 2016
9
Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome. 61
26216965 2015
10
Bardet-Biedl syndrome: A rare genetic disease. 61
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
23572516 2013

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>ASNV 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

Expression for Bardet-Biedl Syndrome 17

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

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
Show member pathways
12.16 TTC8 MKS1 LZTFL1 IFT27 BBS9 BBS7
2
Show member pathways
11.73 TTC8 LZTFL1 BBS9 BBS7 BBS5 BBS4

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

Sources for Bardet-Biedl Syndrome 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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