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 57 12 75 29 6 15 73
Bbs17 57 12 75
Bardet-Biedl Syndrome, Type 17 40

Characteristics:

OMIM:

57
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 : 57 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 polydactyly and bardet-biedl syndrome. 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 renal cyst and hypogonadism

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 : 75 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 polydactyly 28.9 BBS1 BBS2 BBS4 SHH
2 bardet-biedl syndrome 28.1 BBS1 BBS2 BBS4 BBS7 BBS9 LOC107986083
3 nonsyndromic retinitis pigmentosa 10.6 BBS1 BBS2
4 bardet-biedl syndrome 14 10.4 BBS1 BBS2 BBS9
5 bardet-biedl syndrome 6 10.4 BBS1 BBS2 BBS4
6 bardet-biedl syndrome 4 10.4 BBS1 BBS2 BBS4
7 bardet-biedl syndrome 13 10.4 BBS1 BBS2 BBS4
8 lymphatic malformations 10.3 PKD1 PKD2
9 multicystic dysplastic kidney 10.3 PKD1 PKD2
10 polycystic kidney disease 3 with or without polycystic liver disease 10.2 PKD1 PKD2
11 bardet-biedl syndrome 8 10.2 BBS1 BBS2 BBS4 BBS7
12 mckusick-kaufman syndrome 10.2 BBS1 BBS2 BBS4 BBS7
13 bardet-biedl syndrome 18 10.2 BBS1 BBS2 BBS4 BBS7
14 bardet-biedl syndrome 5 10.1 BBS2 RHO
15 tetralogy of fallot 10.1 BBS1 BBS2 BBS4 BBS7
16 holoprosencephaly, recurrent infections, and monocytosis 10.0 GLI2 PTCH1
17 calcifying epithelial odontogenic tumor 10.0 GLI2 PTCH1
18 nodular medulloblastoma 9.9 GLI2 PTCH1
19 bardet-biedl syndrome 3 9.9 BBS1 BBS2 BBS4 BBS7 BBS9
20 bardet-biedl syndrome 2 9.8
21 bardet-biedl syndrome 10 9.8
22 bardet-biedl syndrome 11 9.8
23 bardet-biedl syndrome 12 9.8
24 central polydactyly 9.8
25 polycystic liver disease 1 with or without kidney cysts 9.6 PKD1 PKD2 PTCH1
26 bardet-biedl syndrome 1 9.6 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
27 autosomal genetic disease 9.6 PKD1 PKD2 PTCH1
28 pallister-hall syndrome 9.5 GLI2 SHH
29 fundus dystrophy 9.2 BBS1 BBS2 BBS4 PROM1 RHO
30 septopreoptic holoprosencephaly 9.1 GLI2 PTCH1 SHH
31 midline interhemispheric variant of holoprosencephaly 9.1 GLI2 PTCH1 SHH
32 alobar holoprosencephaly 9.1 GLI2 PTCH1 SHH
33 lobar holoprosencephaly 9.1 GLI2 PTCH1 SHH
34 microform holoprosencephaly 9.1 GLI2 PTCH1 SHH
35 semilobar holoprosencephaly 9.1 GLI2 PTCH1 SHH
36 integumentary system cancer 9.1 GLI2 PTCH1 SHH
37 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.1 GLI2 SHH
38 basal cell nevus syndrome 9.0 GLI2 PTCH1 SHH
39 trehalase deficiency 8.6 GLI2 PKD1 PKD2 PTCH1 STXBP1
40 holoprosencephaly 8.6 GLI2 PTCH1 SHH
41 infratentorial cancer 8.5 GLI2 PROM1 PTCH1 SHH
42 medulloblastoma 8.1 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:

57
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

Human phenotypes related to Bardet-Biedl Syndrome 17:

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

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 17:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 BBS1 BBS4 BBS2 BBS7 DRD1 PKD1
2 behavior/neurological MP:0005386 10.32 BBS7 BBS1 BBS4 BBS2 GLI2 DRD1
3 growth/size/body region MP:0005378 10.29 BBS7 BBS1 BBS4 BBS2 LZTFL1 DRD1
4 cardiovascular system MP:0005385 10.27 BBS7 BBS1 BBS4 DRD1 PKD1 PTCH1
5 homeostasis/metabolism MP:0005376 10.24 BBS2 BBS1 BBS4 PKD1 GLI2 BBS7
6 nervous system MP:0003631 10.22 BBS1 BBS4 BBS2 BBS7 LZTFL1 DRD1
7 mortality/aging MP:0010768 10.21 BBS1 BBS4 GLI2 BBS7 DRD1 PKD1
8 digestive/alimentary MP:0005381 10.19 BBS4 BBS2 BBS7 PKD2 DRD1 PKD1
9 adipose tissue MP:0005375 10.13 BBS2 BBS1 BBS4 LZTFL1 DRD1 PKD1
10 craniofacial MP:0005382 10.09 BBS1 BBS4 GLI2 BBS7 PKD1 PTCH1
11 integument MP:0010771 10.08 BBS2 BBS4 GLI2 LZTFL1 DRD1 PKD1
12 embryo MP:0005380 10.07 BBS4 PKD1 GLI2 BBS7 PTCH1 PKD2
13 normal MP:0002873 10.02 BBS2 BBS4 GLI2 DRD1 PKD1 PTCH1
14 limbs/digits/tail MP:0005371 10 BBS2 BBS1 GLI2 BBS7 PKD1 PTCH1
15 renal/urinary system MP:0005367 9.92 BBS7 BBS1 BBS4 BBS2 PKD1 PKD2
16 reproductive system MP:0005389 9.86 BBS2 BBS1 BBS4 PKD1 GLI2 BBS7
17 respiratory system MP:0005388 9.76 BBS1 BBS4 GLI2 DRD1 PKD1 PTCH1
18 taste/olfaction MP:0005394 9.43 BBS1 BBS4 BBS2 BBS7 SHH PTCH1
19 vision/eye MP:0005391 9.36 BBS1 BBS4 BBS2 BBS7 LZTFL1 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 29 LZTFL1

Anatomical Context for Bardet-Biedl Syndrome 17

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

41
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:

75
# 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_001276378.1(LZTFL1): c.271C> T (p.Arg91Ter) single nucleotide variant Pathogenic rs769327864 GRCh37 Chromosome 3, 45877083: 45877083
8 LZTFL1 NM_001276378.1(LZTFL1): c.271C> T (p.Arg91Ter) single nucleotide variant Pathogenic rs769327864 GRCh38 Chromosome 3, 45835591: 45835591
9 LZTFL1 NM_020347.3(LZTFL1): c.64C> T (p.Arg22Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 45837991: 45837991
10 LZTFL1 NM_020347.3(LZTFL1): c.64C> T (p.Arg22Cys) single nucleotide variant Uncertain significance 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 17)
# 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 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 cilium GO:0005929 9.65 BBS1 BBS2 BBS4 BBS7 BBS9 GLI2
8 non-motile cilium GO:0097730 9.63 BBS4 DRD1 PKD2
9 Golgi-associated vesicle membrane GO:0030660 9.56 PKD1 RHO
10 pericentriolar material GO:0000242 9.55 BBS4 BBS9
11 BBSome GO:0034464 9.55 BBS1 BBS2 BBS4 BBS7 BBS9
12 photoreceptor outer segment membrane GO:0042622 9.54 PROM1 RHO
13 polycystin complex GO:0002133 9.48 PKD1 PKD2
14 ciliary membrane GO:0060170 9.32 BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
15 membrane GO:0016020 10.37 BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
16 plasma membrane GO:0005886 10.25 BBS1 BBS2 BBS4 BBS7 BBS9 DRD1
17 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 58)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.95 BBS7 GLI2 PKD1 PKD2 SHH
2 cilium assembly GO:0060271 9.91 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 branching involved in ureteric bud morphogenesis GO:0001658 9.81 PKD2 PTCH1 SHH
10 cell projection organization GO:0030030 9.8 BBS1 BBS2 BBS4 BBS7 BBS9
11 dorsal/ventral pattern formation GO:0009953 9.78 GLI2 PTCH1 SHH
12 fat cell differentiation GO:0045444 9.78 BBS2 BBS4 BBS7 BBS9
13 smoothened signaling pathway GO:0007224 9.76 BBS7 GLI2 PTCH1 SHH
14 branching morphogenesis of an epithelial tube GO:0048754 9.75 GLI2 PKD1 SHH
15 protein localization to cilium GO:0061512 9.73 BBS1 BBS4 BBS9
16 embryonic placenta development GO:0001892 9.72 PKD1 PKD2
17 anatomical structure formation involved in morphogenesis GO:0048646 9.72 GLI2 SHH
18 regulation of smoothened signaling pathway GO:0008589 9.72 GLI2 PTCH1
19 hindbrain development GO:0030902 9.72 GLI2 SHH
20 brain morphogenesis GO:0048854 9.72 BBS2 BBS4
21 vasodilation GO:0042311 9.71 BBS2 DRD1
22 osteoblast development GO:0002076 9.71 GLI2 SHH
23 long term synaptic depression GO:0060292 9.71 DRD1 STXBP1
24 protein localization to organelle GO:0033365 9.71 BBS2 BBS4
25 detection of mechanical stimulus GO:0050982 9.71 PKD1 PKD2
26 melanosome transport GO:0032402 9.71 BBS2 BBS4 BBS7
27 somite development GO:0061053 9.7 PTCH1 SHH
28 digestive tract morphogenesis GO:0048546 9.7 BBS7 SHH
29 placenta blood vessel development GO:0060674 9.7 PKD1 PKD2
30 negative regulation of multicellular organism growth GO:0040015 9.7 BBS2 PTCH1
31 spinal cord motor neuron differentiation GO:0021522 9.7 GLI2 PTCH1 SHH
32 cytoplasmic sequestering of transcription factor GO:0042994 9.69 PKD1 PKD2
33 response to leptin GO:0044321 9.69 BBS2 BBS4
34 positive regulation of T cell differentiation in thymus GO:0033089 9.68 GLI2 SHH
35 leptin-mediated signaling pathway GO:0033210 9.68 BBS2 BBS4
36 mesonephric tubule development GO:0072164 9.67 PKD1 PKD2
37 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.67 GLI2 PTCH1
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 prostate gland development GO:0030850 9.67 GLI2 PTCH1 SHH
40 heart looping GO:0001947 9.67 BBS4 BBS7 PKD2 SHH
41 lung epithelium development GO:0060428 9.66 PKD1 SHH
42 mammary gland duct morphogenesis GO:0060603 9.66 GLI2 PTCH1
43 mesonephric duct development GO:0072177 9.65 PKD1 PKD2
44 spinal cord dorsal/ventral patterning GO:0021513 9.65 GLI2 SHH
45 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.64 BBS2 BBS4
46 hindgut morphogenesis GO:0007442 9.63 GLI2 SHH
47 visual perception GO:0007601 9.63 BBS1 BBS2 BBS4 BBS7 BBS9 RHO
48 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.62 BBS2 BBS4
49 metanephric ascending thin limb development GO:0072218 9.62 PKD1 PKD2
50 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.61 GLI2 SHH

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 9.16 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 10.16 BBS1 BBS2 BBS4 BBS7 BBS9 DRD1

Sources for Bardet-Biedl Syndrome 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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