MCID: BRD044
MIFTS: 46

Bardet-Biedl Syndrome 17

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

Aliases & Classifications for Bardet-Biedl Syndrome 17

MalaCards integrated aliases for Bardet-Biedl Syndrome 17:

Name: Bardet-Biedl Syndrome 17 53 12 71 28 14 69
Bbs17 53 12 71

Characteristics:

OMIM:

53
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:



Summaries for Bardet-Biedl Syndrome 17

OMIM : 53 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 10 and bardet-biedl syndrome 12, and has symptoms including obesity, global developmental delay and cognitive impairment. 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

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 : 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.

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 42)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 10 29.4 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
2 bardet-biedl syndrome 12 29.4 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
3 bardet-biedl syndrome 2 29.4 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
4 bardet-biedl syndrome 11 29.4 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
5 bardet-biedl syndrome 28.9 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
6 polydactyly 28.5 BBS1 BBS2 BBS4 BBS7 GLI2 SHH
7 nonsyndromic retinitis pigmentosa 10.3 BBS1 BBS2
8 bardet-biedl syndrome 14 10.3 BBS1 BBS2 BBS9
9 bardet-biedl syndrome 4 10.2 BBS1 BBS2 BBS4
10 bardet-biedl syndrome 13 10.2 BBS1 BBS2 BBS4
11 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 10.2 PKD1 PKD2
12 polycystic kidney disease 5 10.2 PKD1 PKD2
13 lymphatic malformations 10.2 PKD1 PKD2
14 bardet-biedl syndrome 6 10.1 BBS1 BBS2 BBS4 BBS7
15 bardet-biedl syndrome 8 10.1 BBS1 BBS2 BBS4 BBS7
16 mckusick-kaufman syndrome 10.1 BBS1 BBS2 BBS4 BBS7
17 bardet-biedl syndrome 18 10.1 BBS1 BBS2 BBS4 BBS7
18 bardet-biedl syndrome 3 10.1 BBS1 BBS2 BBS4 BBS9
19 polycystic kidney disease 3 10.1 PKD1 PKD2
20 tetralogy of fallot 10.0 BBS1 BBS2 BBS4 BBS7
21 holoprosencephaly, recurrent infections, and monocytosis 10.0 GLI2 PTCH1
22 bardet-biedl syndrome 5 10.0 BBS2 RHO
23 calcifying epithelial odontogenic tumor 10.0 GLI2 PTCH1
24 nodular medulloblastoma 9.9 GLI2 PTCH1
25 polycystic liver disease 1 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 autosomal genetic disease 9.7 PKD1 PKD2 PTCH1
29 fundus dystrophy 9.5 BBS1 BBS2 BBS4 PROM1 RHO
30 septopreoptic holoprosencephaly 9.5 GLI2 PTCH1 SHH
31 midline interhemispheric variant of holoprosencephaly 9.5 GLI2 PTCH1 SHH
32 microform holoprosencephaly 9.5 GLI2 PTCH1 SHH
33 alobar holoprosencephaly 9.4 GLI2 PTCH1 SHH
34 lobar holoprosencephaly 9.4 GLI2 PTCH1 SHH
35 brachydactyly, type a1 9.4 PTCH1 SHH
36 semilobar holoprosencephaly 9.4 GLI2 PTCH1 SHH
37 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.4 GLI2 SHH
38 integumentary system cancer 9.4 GLI2 PTCH1 SHH
39 basal cell nevus syndrome 9.4 GLI2 PTCH1 SHH
40 autosomal dominant disease 9.4 PKD1 PTCH1 SHH
41 holoprosencephaly 9.3 GLI2 PTCH1 SHH
42 infratentorial cancer 9.1 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

Symptoms via clinical synopsis from OMIM:

53
Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism
hypogenitalism

Head And Neck Eyes:
cone-rod dystrophy
retinal degeneration

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
polydactyly
mesoaxial polydactyly

Skeletal Feet:
polydactyly

Abdomen:
situs inversus (in some patients)


Clinical features from OMIM:

615994

Human phenotypes related to Bardet-Biedl Syndrome 17:

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

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 17:

43 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 BBS1 BBS4 BBS2 BBS7 PKD1 GLI2
2 behavior/neurological MP:0005386 10.32 BBS1 BBS4 BBS2 DRD1 GLI2 BBS7
3 growth/size/body region MP:0005378 10.3 BBS1 BBS4 BBS2 BBS7 DRD1 PKD1
4 cardiovascular system MP:0005385 10.27 BBS1 BBS4 DRD1 PKD1 BBS7 PTCH1
5 homeostasis/metabolism MP:0005376 10.24 BBS1 BBS4 BBS2 DRD1 PKD1 GLI2
6 nervous system MP:0003631 10.22 BBS1 BBS4 BBS2 BBS7 PKD1 GLI2
7 mortality/aging MP:0010768 10.21 BBS1 BBS4 DRD1 PKD1 GLI2 BBS7
8 digestive/alimentary MP:0005381 10.2 BBS4 BBS2 BBS7 PKD1 GLI2 DRD1
9 adipose tissue MP:0005375 10.14 BBS1 BBS4 BBS2 LZTFL1 DRD1 PKD1
10 craniofacial MP:0005382 10.1 BBS1 BBS4 PKD1 GLI2 BBS7 PTCH1
11 embryo MP:0005380 10.08 BBS4 GLI2 BBS7 PKD1 PTCH1 PKD2
12 integument MP:0010771 10.08 BBS4 BBS2 LZTFL1 DRD1 PKD1 GLI2
13 normal MP:0002873 10.02 BBS4 BBS2 DRD1 PKD1 GLI2 PTCH1
14 limbs/digits/tail MP:0005371 10 BBS1 BBS2 PKD1 GLI2 BBS7 SHH
15 renal/urinary system MP:0005367 9.92 BBS1 BBS4 BBS2 BBS7 PKD1 PKD2
16 hearing/vestibular/ear MP:0005377 9.91 BBS1 BBS4 GLI2 PTCH1 SHH
17 reproductive system MP:0005389 9.86 BBS1 BBS4 BBS2 GLI2 BBS7 PKD1
18 respiratory system MP:0005388 9.76 BBS1 BBS4 DRD1 PKD1 GLI2 PTCH1
19 taste/olfaction MP:0005394 9.43 BBS4 BBS2 BBS7 BBS1 SHH PTCH1
20 vision/eye MP:0005391 9.36 BBS2 BBS7 BBS1 BBS4 GLI2 DRD1

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 28 LZTFL1

Anatomical Context for Bardet-Biedl Syndrome 17

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

38
Heart, Kidney

Publications for Bardet-Biedl Syndrome 17

Articles related to Bardet-Biedl Syndrome 17:

# Title Authors Year
1
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. ( 23692385 )
2013

Variations for Bardet-Biedl Syndrome 17

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

71
# 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.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)
# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.91 BBS1 BBS2 BBS4 BBS7 BBS9
2 cell projection GO:0042995 9.91 BBS1 BBS2 BBS4 BBS7 BBS9 GLI2
3 ciliary basal body GO:0036064 9.77 BBS1 BBS2 BBS4 BBS7 PKD2
4 photoreceptor outer segment GO:0001750 9.73 BBS4 BBS7 PROM1 RHO
5 motile cilium GO:0031514 9.72 BBS2 BBS4 GLI2 PKD1 PKD2
6 axoneme GO:0005930 9.7 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 centriolar satellite GO:0034451 9.58 BBS4 BBS9
10 Golgi-associated vesicle membrane GO:0030660 9.56 PKD1 RHO
11 pericentriolar material GO:0000242 9.55 BBS4 BBS9
12 BBSome GO:0034464 9.55 BBS1 BBS2 BBS4 BBS7 BBS9
13 photoreceptor outer segment membrane GO:0042622 9.54 PROM1 RHO
14 polycystin complex GO:0002133 9.49 PKD1 PKD2
15 ciliary membrane GO:0060170 9.32 BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
16 membrane GO:0016020 10.33 BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
17 plasma membrane GO:0005886 10.25 BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
18 cytoskeleton GO:0005856 10.04 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 60)
# 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 protein localization GO:0008104 9.87 BBS2 BBS4 BBS7
4 kidney development GO:0001822 9.87 GLI2 PKD1 PKD2 SHH
5 determination of left/right symmetry GO:0007368 9.86 BBS7 PKD2 SHH
6 hippocampus development GO:0021766 9.85 BBS2 BBS4 DRD1
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 cell projection organization GO:0030030 9.77 BBS1 BBS2 BBS4 BBS7 BBS9
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 smoothened signaling pathway GO:0007224 9.73 BBS7 GLI2 PTCH1 SHH
18 hindbrain development GO:0030902 9.72 GLI2 SHH
19 regulation of smoothened signaling pathway GO:0008589 9.72 GLI2 PTCH1
20 brain morphogenesis GO:0048854 9.72 BBS2 BBS4
21 anatomical structure formation involved in morphogenesis GO:0048646 9.72 GLI2 SHH
22 osteoblast development GO:0002076 9.72 GLI2 SHH
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 placenta blood vessel development GO:0060674 9.7 PKD1 PKD2
31 negative regulation of multicellular organism growth GO:0040015 9.7 BBS2 PTCH1
32 cytoplasmic sequestering of transcription factor GO:0042994 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 prostate gland development GO:0030850 9.69 GLI2 PTCH1 SHH
37 positive regulation of T cell differentiation in thymus GO:0033089 9.68 GLI2 SHH
38 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.68 PKD1 PKD2
39 lung epithelium development GO:0060428 9.67 PKD1 SHH
40 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.67 GLI2 PTCH1
41 mesonephric tubule development GO:0072164 9.67 PKD1 PKD2
42 mammary gland duct morphogenesis GO:0060603 9.66 GLI2 PTCH1
43 spinal cord dorsal/ventral patterning GO:0021513 9.65 GLI2 SHH
44 mesonephric duct development GO:0072177 9.65 PKD1 PKD2
45 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.64 BBS2 BBS4
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 dorsal/ventral neural tube patterning GO:0021904 9.63 GLI2 PTCH1 SHH
49 visual perception GO:0007601 9.63 BBS1 BBS2 BBS4 BBS7 BBS9 RHO
50 metanephric ascending thin limb development GO:0072218 9.62 PKD1 PKD2

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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