MCID: BRD044
MIFTS: 45

Bardet-Biedl Syndrome 17

Categories: Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Bardet-Biedl Syndrome 17

MalaCards integrated aliases for Bardet-Biedl Syndrome 17:

Name: Bardet-Biedl Syndrome 17 54 12 71 29 14 69
Bbs17 12 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
bardet-biedl syndrome 17:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 17

OMIM : 54
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 lztfl1- related bardet-biedl syndrome and otof-related deafness, and has symptoms including brachydactyly, cognitive impairment and retinal degeneration. 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 / Hedgehog / Notch. Affiliated tissues include heart and kidney, and related phenotypes are cellular and behavior/neurological

UniProtKB/Swiss-Prot : 71 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.

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

Related Diseases for Bardet-Biedl Syndrome 17

Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 16 Bardet-Biedl Syndrome 15
Bardet-Biedl Syndrome 5 Bardet-Biedl Syndrome 17
Bardet-Biedl Syndrome 3 Bardet-Biedl Syndrome 7
Bardet-Biedl Syndrome 12 Bardet-Biedl Syndrome 9
Bardet-Biedl Syndrome 21 Bardet-Biedl Syndrome 20
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 14 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 6
Bardet-Biedl Syndrome 19 Arl6-Related Bardet-Biedl Syndrome
Bbip1-Related Bardet-Biedl Syndrome Bbs1-Related Bardet-Biedl Syndrome
Bbs10-Related Bardet-Biedl Syndrome Bbs12-Related Bardet-Biedl Syndrome
Bbs2-Related Bardet-Biedl Syndrome Bbs4-Related Bardet-Biedl Syndrome
Bbs5-Related Bardet-Biedl Syndrome Bbs7-Related Bardet-Biedl Syndrome
Bbs9-Related Bardet-Biedl Syndrome Cep290-Related Bardet-Biedl Syndrome
Ift27-Related Bardet-Biedl Syndrome Mkks-Related Bardet-Biedl Syndrome
Mks1-Related Bardet-Biedl Syndrome Sdccag8-Related Bardet-Biedl Syndrome
Trim32-Related Bardet-Biedl Syndrome Ttc8-Related Bardet-Biedl Syndrome
Wdpcp-Related Bardet-Biedl Syndrome

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

(show all 41)
id Related Disease Score Top Affiliating Genes
1 lztfl1- related bardet-biedl syndrome 11.2
2 otof-related deafness 10.5 BBS1 BBS2
3 corneal dystrophy, congenital stromal 10.4 BBS1 BBS2 BBS9
4 macrocephaly, dysmorphic facies, and psychomotor retardation 10.4 BBS1 BBS2 BBS4
5 joubert syndrome 28 10.3 BBS1 BBS2 BBS4
6 smith-mccort dysplasia 2 10.3 PKD1 PKD2
7 epileptic encephalopathy, early infantile, 12 10.2 BBS1 BBS2 BBS4 BBS7
8 retinitis pigmentosa 51 10.2 BBS1 BBS2 BBS4 BBS7
9 ataxia-telangiectasia-like disorder 2 10.2 BBS1 BBS2 BBS4 BBS7
10 cardiomyopathy, dilated, 1dd 10.2 BBS1 BBS2 BBS4 BBS7
11 retinitis pigmentosa 55 10.2 BBS1 BBS2 BBS4 BBS9
12 immunodeficiency-centromeric instability-facial anomalies syndrome 3 10.1 BBS2 RHO
13 homocystinuria due to defect in methylation cbl g 10.0 GLI2 PTCH1
14 neuropathy, hereditary sensory, type if 10.0 PKD1 PKD2
15 camptocormism 10.0 GLI2 PTCH1
16 functional colonic disease 9.8 GLI2 PTCH1
17 thyroid dyshormonogenesis 1 9.8 PKD1 PKD2 PTCH1
18 celiac disease 6 9.7 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
19 deafness, autosomal recessive 84a 9.7 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
20 retinitis pigmentosa 74 9.7 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
21 lipodystrophy, congenital generalized, type 2 9.7 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
22 congenital heart defects, multiple types, 3 9.7 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
23 mental retardation, autosomal recessive 55 9.7 BBS2 BBS4 SHH
24 lymphoplasmacytic lymphoma 9.7 PKD1 PKD2 PTCH1
25 epilepsy, juvenile myoclonic 9 9.4 PTCH1 SHH
26 impetigo 9.4 BBS1 BBS2 BBS4 PROM1 RHO
27 sporadic pheochromocytoma 9.3 GLI2 PTCH1 SHH
28 celosomia 9.3 GLI2 PTCH1 SHH
29 pelizaeus-merzbacher disease in female carriers 9.3 GLI2 PTCH1 SHH
30 laryngotracheoesophageal cleft type 2 9.3 GLI2 PTCH1 SHH
31 trichomoniasis 9.3 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
32 laryngotracheoesophageal cleft type 4 9.3 GLI2 PTCH1 SHH
33 isolated facial myokymia 9.3 GLI2 PTCH1 SHH
34 heavy chain disease 9.2 GLI2 PTCH1 SHH
35 basal cell nevus syndrome 9.2 GLI2 PTCH1 SHH
36 hydrocephalus 9.2 GLI2 PTCH1 SHH
37 y-linked disease 9.1 PKD1 PTCH1 SHH
38 horner's syndrome 9.1 BBS1 BBS2 BBS4 GLI2 SHH
39 skin hemangioma 8.8 GLI2 PROM1 PTCH1 SHH
40 orchitis 8.6 GLI2 PTCH1 SHH
41 macular dystrophy, patterned, 3 5.0 BBS1 BBS2 BBS4 BBS7 BBS9 DRD1

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

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Hands:
brachydactyly
mesoaxial polydactyly
polydactyly

Head And Neck- Eyes:
retinal degeneration
cone-rod dystrophy

Genitourinary- External Genitalia Male:
hypogonadism
hypogenitalism

Cardiovascular- Heart:
dextrocardia (in some patients)

Skeletal- Feet:
polydactyly

Neurologic- Central Nervous System:
learning disabilities
cognitive impairment
delayed development

Genitourinary- Kidneys:
cystic kidneys
chronic renal failure

Growth- Weight:
obesity

Abdomen:
situs inversus (in some patients)


Clinical features from OMIM:

615994

Human phenotypes related to Bardet-Biedl Syndrome 17:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 brachydactyly 32 HP:0001156
2 cognitive impairment 32 HP:0100543
3 retinal degeneration 32 HP:0000546
4 global developmental delay 32 HP:0001263
5 hypogonadism 32 HP:0000135
6 obesity 32 HP:0001513
7 mesoaxial polydactyly 32 HP:0100260
8 renal cyst 32 HP:0000107
9 situs inversus totalis 32 occasional (7.5%) HP:0001696
10 stage 5 chronic kidney disease 32 HP:0003774
11 external genital hypoplasia 32 HP:0003241
12 cone/cone-rod dystrophy 32 HP:0000548

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 17:

44 (show all 19)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 BBS1 BBS2 BBS4 BBS7 DRD1 GLI2
2 behavior/neurological MP:0005386 10.32 BBS1 BBS2 BBS4 BBS7 DRD1 GLI2
3 growth/size/body region MP:0005378 10.29 BBS1 BBS2 BBS4 BBS7 DRD1 GLI2
4 cardiovascular system MP:0005385 10.27 BBS1 BBS4 BBS7 DRD1 PKD1 PKD2
5 homeostasis/metabolism MP:0005376 10.24 BBS1 BBS2 BBS4 BBS7 DRD1 GLI2
6 nervous system MP:0003631 10.22 BBS1 BBS2 BBS4 BBS7 DRD1 GLI2
7 mortality/aging MP:0010768 10.21 STX3 STXBP1 BBS1 BBS4 BBS7 DRD1
8 digestive/alimentary MP:0005381 10.19 PKD2 PTCH1 SHH BBS2 BBS4 BBS7
9 adipose tissue MP:0005375 10.13 LZTFL1 PKD1 STX3 BBS1 BBS2 BBS4
10 craniofacial MP:0005382 10.09 BBS1 BBS4 BBS7 GLI2 PKD1 PTCH1
11 integument MP:0010771 10.08 BBS2 BBS4 DRD1 GLI2 LZTFL1 PKD1
12 embryo MP:0005380 10.07 BBS4 BBS7 GLI2 PKD1 PKD2 PTCH1
13 normal MP:0002873 10.02 PKD1 PKD2 PROM1 PTCH1 SHH BBS2
14 limbs/digits/tail MP:0005371 10 BBS1 BBS2 BBS7 GLI2 PKD1 PTCH1
15 renal/urinary system MP:0005367 9.92 BBS1 BBS2 BBS4 BBS7 PKD1 PKD2
16 reproductive system MP:0005389 9.86 BBS1 BBS2 BBS4 BBS7 GLI2 PKD1
17 respiratory system MP:0005388 9.76 PKD2 PTCH1 SHH BBS1 BBS4 DRD1
18 vision/eye MP:0005391 9.36 BBS2 BBS4 BBS7 DRD1 GLI2 LZTFL1
19 taste/olfaction MP:0005394 9.35 BBS1 BBS2 BBS4 BBS7 SHH

Drugs & Therapeutics for Bardet-Biedl Syndrome 17

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989

Search NIH Clinical Center for Bardet-Biedl Syndrome 17

Genetic Tests for Bardet-Biedl Syndrome 17

Genetic tests related to Bardet-Biedl Syndrome 17:

id Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 17 29

Anatomical Context for Bardet-Biedl Syndrome 17

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

39
Heart, Kidney

Publications for Bardet-Biedl Syndrome 17

Variations for Bardet-Biedl Syndrome 17

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

71
id Symbol AA change Variation ID SNP ID
1 LZTFL1 p.Leu87Pro VAR_070104 rs515726135

ClinVar genetic disease variations for Bardet-Biedl Syndrome 17:

6
id 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.260T> C (p.Leu87Pro) single nucleotide variant Pathogenic rs515726135 GRCh37 Chromosome 3, 45877145: 45877145
3 LZTFL1 NM_020347.3(LZTFL1): c.778G> T (p.Glu260Ter) single nucleotide variant Pathogenic rs515726136 GRCh38 Chromosome 3, 45827459: 45827459
4 LZTFL1 NM_001276378.1(LZTFL1): c.271C> T (p.Arg91Ter) single nucleotide variant Pathogenic rs769327864 GRCh37 Chromosome 3, 45877083: 45877083

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)
id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.97 BBS1 BBS2 BBS4 BBS7 BBS9
2 microtubule organizing center GO:0005815 9.91 BBS1 BBS2 BBS4 BBS7 BBS9
3 cell projection GO:0042995 9.86 BBS1 BBS2 BBS4 BBS7 BBS9 PKD1
4 ciliary basal body GO:0036064 9.77 BBS1 BBS2 BBS4 BBS7 PKD2
5 photoreceptor outer segment GO:0001750 9.73 BBS4 BBS7 PROM1 RHO
6 motile cilium GO:0031514 9.72 BBS2 BBS4 GLI2 PKD1 PKD2
7 axoneme GO:0005930 9.7 BBS1 BBS7 GLI2
8 non-motile cilium GO:0097730 9.65 BBS4 DRD1 PKD2
9 cilium GO:0005929 9.65 BBS1 BBS2 BBS4 BBS7 BBS9 GLI2
10 centriolar satellite GO:0034451 9.58 BBS4 BBS9
11 Golgi-associated vesicle membrane GO:0030660 9.56 PKD1 RHO
12 pericentriolar material GO:0000242 9.55 BBS4 BBS9
13 BBSome GO:0034464 9.55 BBS1 BBS2 BBS4 BBS7 BBS9
14 photoreceptor outer segment membrane GO:0042622 9.54 PROM1 RHO
15 polycystin complex GO:0002133 9.49 PKD1 PKD2
16 ciliary membrane GO:0060170 9.32 BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
17 membrane GO:0016020 10.33 BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
18 plasma membrane GO:0005886 10.25 BBS1 BBS2 BBS4 BBS7 BBS9 DRD1

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

(show top 50) (show all 60)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.95 BBS7 GLI2 PKD1 PKD2 SHH
2 cilium assembly GO:0060271 9.88 BBS1 BBS2 BBS4 BBS7 BBS9
3 kidney development GO:0001822 9.87 GLI2 PKD1 PKD2 SHH
4 determination of left/right symmetry GO:0007368 9.86 BBS7 PKD2 SHH
5 hippocampus development GO:0021766 9.85 BBS2 BBS4 DRD1
6 protein localization GO:0008104 9.85 BBS2 BBS4 BBS7
7 pattern specification process GO:0007389 9.83 GLI2 PTCH1 SHH
8 neural tube development GO:0021915 9.81 GLI2 PKD1 PKD2
9 fat cell differentiation GO:0045444 9.8 BBS2 BBS4 BBS7 BBS9
10 branching involved in ureteric bud morphogenesis GO:0001658 9.79 PKD2 PTCH1 SHH
11 dorsal/ventral pattern formation GO:0009953 9.78 GLI2 PTCH1 SHH
12 smoothened signaling pathway GO:0007224 9.76 BBS7 GLI2 PTCH1 SHH
13 branching morphogenesis of an epithelial tube GO:0048754 9.75 GLI2 PKD1 SHH
14 embryonic placenta development GO:0001892 9.73 PKD1 PKD2
15 vasodilation GO:0042311 9.73 BBS2 DRD1
16 melanosome transport GO:0032402 9.73 BBS2 BBS4 BBS7
17 hindbrain development GO:0030902 9.72 GLI2 SHH
18 regulation of smoothened signaling pathway GO:0008589 9.72 GLI2 PTCH1
19 brain morphogenesis GO:0048854 9.72 BBS2 BBS4
20 anatomical structure formation involved in morphogenesis GO:0048646 9.72 GLI2 SHH
21 osteoblast development GO:0002076 9.72 GLI2 SHH
22 cell projection organization GO:0030030 9.72 BBS1 BBS2 BBS4 BBS7 BBS9
23 long term synaptic depression GO:0060292 9.71 DRD1 STXBP1
24 somite development GO:0061053 9.71 PTCH1 SHH
25 anatomical structure development GO:0048856 9.71 GLI2 SHH
26 detection of mechanical stimulus GO:0050982 9.71 PKD1 PKD2
27 protein localization to organelle GO:0033365 9.71 BBS2 BBS4
28 spinal cord motor neuron differentiation GO:0021522 9.71 GLI2 PTCH1 SHH
29 digestive tract morphogenesis GO:0048546 9.7 BBS7 SHH
30 negative regulation of multicellular organism growth GO:0040015 9.7 BBS2 PTCH1
31 cytoplasmic sequestering of transcription factor GO:0042994 9.7 PKD1 PKD2
32 placenta blood vessel development GO:0060674 9.7 PKD1 PKD2
33 protein localization to cilium GO:0061512 9.7 BBS1 BBS4 BBS9
34 response to leptin GO:0044321 9.69 BBS2 BBS4
35 leptin-mediated signaling pathway GO:0033210 9.69 BBS2 BBS4
36 positive regulation of T cell differentiation in thymus GO:0033089 9.69 GLI2 SHH
37 lung epithelium development GO:0060428 9.67 PKD1 SHH
38 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.67 PKD1 PKD2
39 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.67 GLI2 PTCH1
40 heart looping GO:0001947 9.67 BBS4 BBS7 PKD2 SHH
41 mesonephric tubule development GO:0072164 9.66 PKD1 PKD2
42 mammary gland duct morphogenesis GO:0060603 9.66 GLI2 PTCH1
43 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.65 BBS2 BBS4
44 spinal cord dorsal/ventral patterning GO:0021513 9.65 GLI2 SHH
45 mesonephric duct development GO:0072177 9.64 PKD1 PKD2
46 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.63 GLI2 SHH
47 hindgut morphogenesis GO:0007442 9.63 GLI2 SHH
48 visual perception GO:0007601 9.63 BBS1 BBS2 BBS4 BBS7 BBS9 RHO
49 metanephric ascending thin limb development GO:0072218 9.62 PKD1 PKD2
50 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.62 BBS2 BBS4

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

id 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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