BBS17
MCID: BRD044
MIFTS: 44

Bardet-Biedl Syndrome 17 (BBS17) malady

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

Aliases & Classifications for Bardet-Biedl Syndrome 17

Aliases & Descriptions for Bardet-Biedl Syndrome 17:

Name: Bardet-Biedl Syndrome 17 54 12 66 29 14 69
Bbs17 12 66

Characteristics:

HPO:

32
bardet-biedl syndrome 17:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 615994
Disease Ontology 12 DOID:0110139
ICD10 33 Q87.89
MeSH 42 D020788

Summaries for Bardet-Biedl Syndrome 17

UniProtKB/Swiss-Prot : 66 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.

MalaCards based summary : Bardet-Biedl Syndrome 17, also known as bbs17, is related to lztfl1- related bardet-biedl syndrome and bardet-biedl syndrome 1, 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.

Description from OMIM: 615994

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 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 Bbip1-Related Bardet-Biedl Syndrome
C2orf86-Related Bardet-Biedl Syndrome Ift27-Related Bardet-Biedl Syndrome
Arl6-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
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 11.3
2 bardet-biedl syndrome 1 10.9
3 pnpla6-related disorders 10.2 BBS1 BBS2
4 combined oxidative phosphorylation deficiency 15 10.2 BBS1 BBS2 BBS4
5 carney complex, type 1 10.2 BBS1 BBS2 BBS4
6 auriculocondylar syndrome 2 10.1 BBS1 BBS2 BBS4 BBS7
7 osteogenesis imperfecta, type xiv 10.1 BBS1 BBS4 BBS7 BBS9
8 hydrocephalus, nonsyndromic, autosomal recessive 10.1 BBS1 BBS2 BBS4 BBS7
9 myopathy, myofibrillar, 6 10.1 BBS1 BBS2 BBS4 BBS7
10 epileptic encephalopathy, early infantile, 12 10.1 BBS1 BBS2 BBS4 BBS7
11 holoprosencephaly 8 10.1 PKD1 PKD2
12 ceroid lipofuscinosis, neuronal, 8 10.1 BBS1 BBS2 BBS4 BBS7
13 cerebral palsy, spastic quadriplegic, 1 10.0 BBS2 RHO
14 horseshoe kidney 10.0 GLI2 PTCH1
15 spinocerebellar ataxia 31 10.0 BBS1 BBS2 BBS7 BBS9 LZTFL1
16 camptomelic syndrome long limb type 10.0 GLI2 PTCH1
17 retinitis pigmentosa 55 10.0 BBS1 BBS2 BBS4 BBS7 BBS9
18 dicer1-related disorders 10.0 BBS9 PKD1
19 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 9.9 BBS2 BBS4 SHH
20 diabetes mellitus, insulin-dependent, 23 9.9 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
21 puerperal pulmonary embolism 9.9 BBS1 PROM1 RHO
22 joubert syndrome 5 9.9 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
23 encephalopathy, progressive, with or without lipodystrophy 9.9 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
24 intestinal pseudo-obstruction 9.9 GLI2 PTCH1
25 t-cell large granular lymphocyte leukemia 9.9 PKD1 PKD2 PTCH1
26 cerebrotendinous xanthomatosis 9.8 PTCH1 SHH
27 primary oculocerebral lymphoma 9.8 GLI2 PTCH1 SHH
28 late-onset nephronophthisis 9.8 GLI2 PTCH1 SHH
29 trichomoniasis 9.8 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
30 antenatal bartter syndrome 9.8 GLI2 PTCH1 SHH
31 familial infantile bilateral striatal necrosis 9.7 GLI2 PTCH1 SHH
32 atypical hemolytic-uremic syndrome with h factor anomaly 9.7 GLI2 PTCH1 SHH
33 glaucoma 1, open angle, f 9.7 GLI2 PTCH1 SHH
34 breasts and/or nipples, aplasia or hypoplasia of, 2 9.7 GLI2 PTCH1 SHH
35 alpha chain disease 9.7 GLI2 PTCH1 SHH
36 hypoplastic left heart syndrome 9.7 GLI2 PTCH1 SHH
37 horner's syndrome 9.7 BBS1 BBS2 BBS4 GLI2 SHH
38 orchitis 9.7 GLI2 PTCH1 SHH
39 autosomal genetic disease 9.6 PKD1 PKD2 PTCH1 SHH
40 extragonadal germ cell cancer 9.6 GLI2 PROM1 PTCH1 SHH
41 colorectal cancer, hereditary nonpolyposis, type 2 8.1 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 by clinical synopsis from OMIM:

615994

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 obesity 32 HP:0001513
2 global developmental delay 32 HP:0001263
3 cognitive impairment 32 HP:0100543
4 hypogonadism 32 HP:0000135
5 brachydactyly syndrome 32 HP:0001156
6 situs inversus totalis 32 HP:0001696
7 renal cyst 32 HP:0000107
8 stage 5 chronic kidney disease 32 HP:0003774
9 retinal degeneration 32 HP:0000546
10 external genital hypoplasia 32 HP:0003241
11 mesoaxial polydactyly 32 HP:0100260
12 cone/cone-rod dystrophy 32 HP:0000548

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 17:

44 (show all 20)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 RHO SHH BBS1 BBS2 BBS4 BBS7
2 behavior/neurological MP:0005386 10.32 BBS1 BBS2 BBS4 BBS7 DRD1 GLI2
3 growth/size/body region MP:0005378 10.3 BBS1 BBS2 BBS4 BBS7 DRD1 GLI2
4 cardiovascular system MP:0005385 10.27 BBS1 BBS4 BBS7 DRD1 PKD1 PKD2
5 homeostasis/metabolism MP:0005376 10.25 BBS1 BBS2 BBS4 BBS7 DRD1 GLI2
6 nervous system MP:0003631 10.25 PROM1 PTCH1 RHO SHH STXBP1 BBS1
7 mortality/aging MP:0010768 10.23 DRD1 GLI2 PKD1 PKD2 PROM1 PTCH1
8 digestive/alimentary MP:0005381 10.2 BBS2 BBS4 BBS7 DRD1 GLI2 PKD1
9 adipose tissue MP:0005375 10.14 PKD1 STX3 BBS1 BBS2 BBS4 DRD1
10 craniofacial MP:0005382 10.1 BBS1 BBS4 BBS7 GLI2 PKD1 PTCH1
11 integument MP:0010771 10.1 BBS2 BBS4 DRD1 GLI2 LZTFL1 PKD1
12 embryo MP:0005380 10.08 BBS4 BBS7 GLI2 PKD1 PKD2 PTCH1
13 limbs/digits/tail MP:0005371 10.02 BBS1 BBS2 BBS7 GLI2 PKD1 PTCH1
14 normal MP:0002873 10.02 BBS2 BBS4 DRD1 GLI2 PKD1 PKD2
15 renal/urinary system MP:0005367 9.92 PTCH1 SHH BBS1 BBS2 BBS4 BBS7
16 no phenotypic analysis MP:0003012 9.88 GLI2 PROM1 PTCH1 RHO SHH STXBP1
17 reproductive system MP:0005389 9.86 BBS2 BBS4 BBS7 GLI2 PKD1 PTCH1
18 respiratory system MP:0005388 9.76 PTCH1 SHH BBS1 BBS4 DRD1 GLI2
19 vision/eye MP:0005391 9.36 BBS1 BBS2 BBS4 BBS7 DRD1 GLI2
20 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
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:

66
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 cell projection GO:0042995 9.97 BBS1 BBS2 BBS4 BBS7 BBS9 PKD1
2 microtubule organizing center GO:0005815 9.91 BBS1 BBS2 BBS4 BBS7 BBS9
3 photoreceptor outer segment GO:0001750 9.73 BBS4 BBS7 PROM1 RHO
4 ciliary basal body GO:0036064 9.72 BBS1 BBS2 BBS4 BBS7 PKD2
5 axoneme GO:0005930 9.7 BBS1 BBS7 GLI2
6 non-motile cilium GO:0097730 9.65 BBS4 DRD1 PKD2
7 motile cilium GO:0031514 9.65 BBS2 BBS4 GLI2 PKD1 PKD2
8 cilium GO:0005929 9.65 BBS1 BBS2 BBS4 BBS7 BBS9 GLI2
9 ciliary transition zone GO:0035869 9.58 BBS4 BBS9
10 centriolar satellite GO:0034451 9.57 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 59)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.92 BBS7 GLI2 PKD1 PKD2 SHH
2 determination of left/right symmetry GO:0007368 9.86 BBS7 PKD2 SHH
3 kidney development GO:0001822 9.86 GLI2 PKD1 PKD2 SHH
4 hippocampus development GO:0021766 9.85 BBS2 BBS4 DRD1
5 protein localization GO:0008104 9.85 BBS2 BBS4 BBS7
6 cilium assembly GO:0060271 9.83 BBS1 BBS2 BBS4 BBS7 BBS9
7 pattern specification process GO:0007389 9.82 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 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 smoothened signaling pathway GO:0007224 9.78 BBS7 GLI2 PTCH1 SHH
13 branching involved in ureteric bud morphogenesis GO:0001658 9.77 PKD2 PTCH1 SHH
14 branching morphogenesis of an epithelial tube GO:0048754 9.74 GLI2 PKD1 SHH
15 vasodilation GO:0042311 9.73 BBS2 DRD1
16 hindbrain development GO:0030902 9.72 GLI2 SHH
17 regulation of smoothened signaling pathway GO:0008589 9.72 GLI2 PTCH1
18 embryonic placenta development GO:0001892 9.72 PKD1 PKD2
19 brain morphogenesis GO:0048854 9.72 BBS2 BBS4
20 osteoblast development GO:0002076 9.72 GLI2 SHH
21 spinal cord motor neuron differentiation GO:0021522 9.72 GLI2 PTCH1 SHH
22 anatomical structure formation involved in morphogenesis GO:0048646 9.71 GLI2 SHH
23 long term synaptic depression GO:0060292 9.71 DRD1 STXBP1
24 somite development GO:0061053 9.71 PTCH1 SHH
25 detection of mechanical stimulus GO:0050982 9.71 PKD1 PKD2
26 anatomical structure development GO:0048856 9.71 GLI2 SHH
27 melanosome transport GO:0032402 9.71 BBS2 BBS4 BBS7
28 protein localization to organelle GO:0033365 9.7 BBS2 BBS4
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 9.69 PKD1 PKD2
33 response to leptin GO:0044321 9.69 BBS2 BBS4
34 positive regulation of T cell differentiation in thymus GO:0033089 9.69 GLI2 SHH
35 protein localization to cilium GO:0061512 9.69 BBS1 BBS4 BBS9
36 leptin-mediated signaling pathway GO:0033210 9.68 BBS2 BBS4
37 lung epithelium development GO:0060428 9.68 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 heart looping GO:0001947 9.67 BBS4 BBS7 PKD2 SHH
40 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.66 GLI2 PTCH1
41 mesonephric tubule development GO:0072164 9.66 PKD1 PKD2
42 mammary gland duct morphogenesis GO:0060603 9.65 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 9.64 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 dorsal/ventral neural tube patterning GO:0021904 9.63 GLI2 PTCH1 SHH
48 visual perception GO:0007601 9.63 BBS1 BBS2 BBS4 BBS7 BBS9 RHO
49 hindgut morphogenesis GO:0007442 9.62 GLI2 SHH
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
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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70 UMLS via Orphanet
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