Bardet-Biedl syndrome (Homo sapiens)

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AxonemeOuside membraneGeneric transcription pathwayARNTLTranslation factors IFT2714, 56IFT744, 16IFT17218, 58, 66IFT8065SCAPER6, 7153AntrogradeGene DNAIFT-B ComplexBBSome ComplexIFT-A ComplexVesiclesBasal Body?Primary CiliumChaperonins32ARNTL55EFHC265BBS540, 42CEP164CEP29010, 48BBIP12, 8, 12, 13, 6923BBS93, 31, 63TMEM6746TRIM32FUZ30, 38CRX65ZIC2WDPCP65TTC21B10, 26, 4165Wnt signalingC8orf37BBS11, 54, 6015, 36IFT122KIF765SDCCAG865Ciliopathies51, 62BBS12BBS107, 19, 297, 52, 61BBS25, 33DNA damage responsePTCH149BBS421TMEM10722, 6825, 43TTC8CEP10427, 35, 5065MKS124, 46, 47IFT14065IFT43ARL665WDR3528, 3465GLI265LZTFL144, 59WDR1965Hedgehog signaling pathwayMKKS7, 37, 45SCLT1GLI36, 17, 6465SUFUTMEM2166546DCDC265EFHC165C21orf2C2orf716565CNGB1CNGA165CEP416565PKD165PKD2SMOOCRLNEK165LCA5IQCB165INPP5EGPR16165FLCN65USP9X65RAB23PKHD165PKD1L165NEK8NPHP311INVS65EVC221EVC6565ARL3RP2965PDE6DARL13B65MAK6765ICK57RetrogradeDYNC2LI1WDR6065WDR3465DYNC2H165TCTEX1D26565?CLUAP165IFT57IFT5265IFT816565TRAF3IP165INVSGenes identified & linked with BBS 65LegendGene Extended genes linked with ciliopathiesGene ?Function unknownBBS720, 39, 70


Description

Bardet-Biedl Syndrome is a rare autosomal recessive genetic disorder. Most individuals carry mutations encoding for the intraflagellar transport complex, especially the BBSome complex and assembly or functional proteins within the primary cilium. These mutations lead to multisystemic ciliopathies, commonly characterized by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadotropic hypogonadism, genitourinary malformations, renal malformation and/or renal parenchymal disease. The syndrome has a prevalence of 1:125 000 to 1:160 000 in the Western hemisphere and a higher prevalence in isolated communities like Newfoundland 1:17 500 or Arabic regions 1:13 500 to 1:65 000 cases.

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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
123515view16:53, 31 July 2022EgonwGeneric interaction
122917view19:11, 1 June 2022SMBachmann
122902view12:08, 31 May 2022FehrhartOntology Term : 'ciliopathy' added !
122901view12:07, 31 May 2022FehrhartOntology Term : 'disease pathway' added !
122887view17:52, 29 May 2022SMBachmann
122886view17:15, 29 May 2022SMBachmann
122885view14:50, 29 May 2022SMBachmann
122874view17:40, 27 May 2022SMBachmann
122873view17:39, 27 May 2022SMBachmann
122871view15:55, 27 May 2022SMBachmann
122859view17:23, 24 May 2022SMBachmann
122755view15:26, 10 May 2022SMBachmann
122751view09:44, 9 May 2022SMBachmann
122747view08:52, 9 May 2022SMBachmann
122744view19:35, 8 May 2022SMBachmann
122735view11:41, 7 May 2022SMBachmannModified description
122734view11:38, 7 May 2022SMBachmann
122733view11:30, 7 May 2022SMBachmannModified description
122724view19:51, 5 May 2022SMBachmann
122723view19:47, 5 May 2022SMBachmannAdditional Annotations
122722view13:05, 5 May 2022SMBachmannDeletion of BBIP1 extra comment
122721view12:59, 5 May 2022SMBachmannOntology Term : 'Bardet-Biedl syndrome' added !
122720view12:57, 5 May 2022SMBachmannModified description
122719view12:53, 5 May 2022SMBachmannNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ARL13BGeneProductENSG00000169379 (Ensembl)
ARL3GeneProductENSG00000138175 (Ensembl)
ARL6GeneProductENSG00000113966 (Ensembl) BBS3
ARNTLProteinA0A140VKD3 (Uniprot-TrEMBL)
ARNTLGeneProductENSG00000133794 (Ensembl)
BBIP1GeneProductENSG00000214413 (Ensembl) BBS18
BBS10GeneProductENSG00000179941 (Ensembl)
BBS12GeneProductENSG00000181004 (Ensembl)
BBS1GeneProductENSG00000174483 (Ensembl)
BBS2GeneProductENSG00000125124 (Ensembl)
BBS4GeneProductENSG00000140463 (Ensembl)
BBS5GeneProductENSG00000163093 (Ensembl)
BBS7GeneProductENSG00000138686 (Ensembl)
BBS9GeneProductENSG00000122507 (Ensembl)
C21orf2GeneProductENSG00000160226 (Ensembl)
C2orf71GeneProductENSG00000179270 (Ensembl)
C8orf37GeneProductENSG00000156172 (Ensembl)
  • BBS21
  • CFAP418
CEP104GeneProductENSG00000116198 (Ensembl)
CEP164GeneProductENSG00000110274 (Ensembl)
CEP290GeneProductENSG00000198707 (Ensembl) BBS14
CEP41GeneProductENSG00000106477 (Ensembl)
CLUAP1GeneProductENSG00000103351 (Ensembl)
CNGA1GeneProductENSG00000198515 (Ensembl)
CNGB1GeneProductENSG00000070729 (Ensembl)
CRXGeneProductENSG00000105392 (Ensembl)
CiliopathiesPathwayWp4803 (WikiPathways)
DCDC2GeneProductENSG00000146038 (Ensembl)
DNA damage responsePathwayWP707 (WikiPathways)
DYNC2H1GeneProductENSG00000187240 (Ensembl)
DYNC2LI1GeneProductENSG00000138036 (Ensembl)
EFHC1GeneProductENSG00000096093 (Ensembl)
EFHC2GeneProductENSG00000183690 (Ensembl)
EVC2GeneProductENSG00000173040 (Ensembl)
EVCGeneProductENSG00000072840 (Ensembl)
FLCNGeneProductENSG00000154803 (Ensembl)
FUZGeneProductENSG00000010361 (Ensembl)
GLI2ProteinH7C1U2 (Uniprot-TrEMBL)
GLI3GeneProductENSG00000106571 (Ensembl)
GPR161GeneProductENSG00000143147 (Ensembl)
Generic transcription pathwayPathwayWp1822 (WikiPathways)
Hedgehog signaling pathwayPathwayWp47 (WikiPathways)
ICKGeneProductENSG00000112144 (Ensembl)
IFT122GeneProductENSG00000163913 (Ensembl)
IFT140GeneProductENSG00000187535 (Ensembl)
IFT172GeneProductENSG00000138002 (Ensembl) BBS20
IFT27GeneProductENSG00000100360 (Ensembl) BBS19
IFT43GeneProductENSG00000119650 (Ensembl)
IFT52GeneProductENSG00000101052 (Ensembl)
IFT57GeneProductENSG00000114446 (Ensembl)
IFT74GeneProductENSG00000096872 (Ensembl) BBS22
IFT80GeneProductENSG00000068885 (Ensembl)
IFT81GeneProductENSG00000122970 (Ensembl)
INPP5EGeneProductENSG00000148384 (Ensembl)
INVSGeneProductENSG00000119509 (Ensembl)
IQCB1GeneProductENSG00000173226 (Ensembl)
KIF7GeneProductENSG00000166813 (Ensembl)
LCA5GeneProductENSG00000135338 (Ensembl)
LZTFL1GeneProductENSG00000163818 (Ensembl) BBS17
MAKGeneProductENSG00000111837 (Ensembl)
MKKSGeneProductENSG00000125863 (Ensembl) BBS6
MKS1GeneProductENSG00000011143 (Ensembl) BBS13
NEK1GeneProductENSG00000137601 (Ensembl)
NEK8GeneProductENSG00000160602 (Ensembl)
NPHP3GeneProductENSG00000113971 (Ensembl)
OCRLGeneProductENSG00000122126 (Ensembl)
PDE6DGeneProductENSG00000156973 (Ensembl)
PKD1GeneProductENSG00000008710 (Ensembl)
PKD1L1GeneProductENSG00000158683 (Ensembl)
PKD2GeneProductENSG00000118762 (Ensembl)
PKHD1GeneProductENSG00000170927 (Ensembl)
PTCH1GeneProductENSG00000185920 (Ensembl)
RAB23GeneProductENSG00000112210 (Ensembl)
RP2GeneProductENSG00000102218 (Ensembl)
SCAPERGeneProductH3BU24 (Uniprot-TrEMBL)
SCLT1GeneProductENSG00000151466 (Ensembl)
SDCCAG8GeneProductENSG00000054282 (Ensembl) BBS16
SMOGeneProductENSG00000128602 (Ensembl)
SUFUGeneProductENSG00000107882 (Ensembl)
TCTEX1D2GeneProductENSG00000213123 (Ensembl)
TMEM107GeneProductENSG00000179029 (Ensembl)
TMEM216GeneProductENSG00000187049 (Ensembl)
TMEM67GeneProductENSG00000164953 (Ensembl)
TRAF3IP1GeneProductENSG00000204104 (Ensembl)
TRIM32GeneProductENSG00000119401 (Ensembl) BBS11
TTC21BGeneProductENSG00000123607 (Ensembl)
TTC8GeneProductENSG00000165533 (Ensembl) BBS8
Translation factors PathwayWP107 (WikiPathways)
USP9XGeneProductENSG00000124486 (Ensembl)
WDPCPGeneProductENSG00000143951 (Ensembl) BBS15
WDR19GeneProductENSG00000157796 (Ensembl)
WDR34GeneProductENSG00000119333 (Ensembl)
WDR35GeneProductENSG00000118965 (Ensembl)
WDR60GeneProductENSG00000126870 (Ensembl)
Wnt signalingPathwayWp428 (WikiPathways)
ZIC2GeneProductENSG00000043355 (Ensembl)

Annotated Interactions

No annotated interactions

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