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

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:



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.

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:



Diseases related to Bardet-Biedl Syndrome 17

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

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 30 LZTFL1

Anatomical Context for Bardet-Biedl Syndrome 17

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

42
Kidney, Heart, Liver, Eye, Thyroid

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 )
2018
2
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. ( 23692385 )
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 )
2012
4
Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family. ( 17163542 )
2007

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

Expression for Bardet-Biedl Syndrome 17

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

Pathways for Bardet-Biedl Syndrome 17

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 for Bardet-Biedl Syndrome 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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