PedAM

Pediatric Disease Annotations & Medicines


	bardet-biedl syndrome

Disease ID	41
Disease	bardet-biedl syndrome
Definition	An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
Synonym	bardet biedl syndrome bardet-biedl syndrome (disorder) bardet-biedl syndrome [disease/finding] biedl-bardet syndrome laurence moon bardet biedl syndrome laurence-moon-bardet-biedl syndrome lmbb - laurence-moon-bardet-biedl syndrome syndrome, bardet-biedl syndrome, laurence-moon-bardet-biedl
Orphanet	ORPHANET:110
DOID	DOID:1935
UMLS	C0752166
MeSH	D020788
SNOMED-CT	SNOMEDCT_US_2016_09_01:5619004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:17) C0028754 \| obesity \| 6 C0022658 \| kidney disease \| 2 C0022658 \| renal disease \| 2 C0035304 \| retinal degeneration \| 2 C0151740 \| intracranial hypertension \| 1 C0456909 \| blindness \| 1 C0022661 \| end-stage kidney disease \| 1 C0028756 \| severe obesity \| 1 C0011847 \| diabetes \| 1 C0022661 \| chronic kidney disease \| 1 C0085655 \| polymyositis \| 1 C0022661 \| chronic renal failure \| 1 C0035334 \| retinitis pigmentosa \| 1 C0022661 \| end stage renal disease \| 1 C0035078 \| renal failure \| 1 C0035333 \| retinitis \| 1 C0020538 \| hypertension \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:27) IFT27 \| 11020 \| ORPHANET;UniProtKB-KW BBIP1 \| 92482 \| CLINVAR;ORPHANET;UniProtKB-KW CEP290 \| 80184 \| CLINVAR;CTD_human;ORPHANET;GHR;UniProtKB-KW KIF7 \| 374654 \| UniProtKB-KW MKS1 \| 54903 \| CTD_human;ORPHANET;GHR;UniProtKB-KW BBS12 \| 166379 \| CLINVAR;CTD_human;ORPHANET;GHR;UniProtKB-KW BBS10 \| 79738 \| CLINVAR;CTD_human;ORPHANET;GHR;UniProtKB-KW WDPCP \| 51057 \| CTD_human;ORPHANET;UniProtKB-KW BBS7 \| 55212 \| CLINVAR;CTD_human;ORPHANET;GHR;UniProtKB-KW BBS4 \| 585 \| CLINVAR;CTD_human;ORPHANET;GHR;UniProtKB-KW BBS2 \| 583 \| CLINVAR;CTD_human;ORPHANET;GHR;UniProtKB-KW BBS1 \| 582 \| CLINVAR;CTD_human;ORPHANET;GHR;UniProtKB-KW BBS9 \| 27241 \| CLINVAR;CTD_human;ORPHANET;GHR;UniProtKB-KW SDCCAG8 \| 10806 \| ORPHANET;UniProtKB-KW TMEM67 \| 91147 \| CTD_human;UniProtKB-KW ARL6 \| 84100 \| CLINVAR;CTD_human;ORPHANET;GHR;UniProtKB-KW BBS5 \| 129880 \| CLINVAR;CTD_human;ORPHANET;GHR;UniProtKB-KW TTC21B \| 79809 \| UniProtKB-KW TTC8 \| 123016 \| CTD_human;ORPHANET;GHR;UniProtKB-KW IFT74 \| 80173 \| UniProtKB-KW TRIM32 \| 22954 \| CTD_human;ORPHANET;GHR;UniProtKB-KW C8orf37 \| 157657 \| UniProtKB-KW NPHP1 \| 4867 \| ORPHANET MKKS \| 8195 \| CLINVAR;CTD_human;ORPHANET;GHR;UniProtKB-KW LZTFL1 \| 54585 \| CLINVAR;ORPHANET;UniProtKB-KW IFT172 \| 26160 \| ORPHANET CCDC28B \| 79140 \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 55212 \| BBS7 \| infer 79140 \| CCDC28B \| infer 115861 \| NXNL1 \| infer 123016 \| TTC8 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:174) 10083 \| USH1C \| DISEASES 5837 \| PYGM \| DISEASES 10081 \| PDCD7 \| DISEASES 8174 \| MADCAM1 \| DISEASES 3956 \| LGALS1 \| DISEASES 51090 \| PLLP \| DISEASES 10567 \| RABAC1 \| DISEASES 10105 \| PPIF \| DISEASES 5957 \| RCVRN \| DISEASES 6372 \| CXCL6 \| DISEASES 6787 \| NEK4 \| DISEASES 5311 \| PKD2 \| DISEASES 112752 \| IFT43 \| DISEASES 27241 \| BBS9 \| DISEASES 4852 \| NPY \| DISEASES 79809 \| TTC21B \| DISEASES 583 \| BBS2 \| DISEASES 8195 \| MKKS \| DISEASES 57576 \| KIF17 \| DISEASES 2847 \| MCHR1 \| DISEASES 611 \| OPN1SW \| DISEASES 3630 \| INS \| DISEASES 7251 \| TSG101 \| DISEASES 90332 \| EXOC3L2 \| DISEASES 147965 \| FAM98C \| DISEASES 10343 \| PKDREJ \| DISEASES 5989 \| RFX1 \| DISEASES 3000 \| GUCY2D \| DISEASES 2922 \| GRP \| DISEASES 26160 \| IFT172 \| DISEASES 51626 \| DYNC2LI1 \| DISEASES 403 \| ARL3 \| DISEASES 54536 \| EXOC6 \| DISEASES 7434 \| VIPR2 \| DISEASES 5310 \| PKD1 \| DISEASES 84662 \| GLIS2 \| DISEASES 23090 \| ZNF423 \| DISEASES 27130 \| INVS \| DISEASES 6492 \| SIM1 \| DISEASES 22858 \| ICK \| DISEASES 443 \| ASPA \| DISEASES 8424 \| BBOX1 \| DISEASES 7840 \| ALMS1 \| DISEASES 55212 \| BBS7 \| DISEASES 55081 \| IFT57 \| DISEASES 5443 \| POMC \| DISEASES 55722 \| CEP72 \| DISEASES 2121 \| EVC \| DISEASES 54806 \| AHI1 \| DISEASES 585 \| BBS4 \| DISEASES 1952 \| CELSR2 \| DISEASES 51057 \| WDPCP \| DISEASES 10550 \| ARL6IP5 \| DISEASES 908 \| CCT6A \| DISEASES 51524 \| TMEM138 \| DISEASES 64422 \| ATG3 \| DISEASES 126731 \| CCSAP \| DISEASES 157657 \| C8orf37 \| DISEASES 197131 \| UBR1 \| DISEASES 5871 \| MAP4K2 \| DISEASES 129880 \| BBS5 \| DISEASES 54585 \| LZTFL1 \| DISEASES 55764 \| IFT122 \| DISEASES 6010 \| RHO \| DISEASES 51752 \| ERAP1 \| DISEASES 6469 \| SHH \| DISEASES 1014 \| CDH16 \| DISEASES 4160 \| MC4R \| DISEASES 4218 \| RAB8A \| DISEASES 57037 \| ANKMY2 \| DISEASES 79867 \| TCTN2 \| DISEASES 115861 \| NXNL1 \| DISEASES 435 \| ASL \| DISEASES 81029 \| WNT5B \| DISEASES 9657 \| IQCB1 \| DISEASES 1464 \| CSPG4 \| DISEASES 3952 \| LEP \| DISEASES 4281 \| MID1 \| DISEASES 57560 \| IFT80 \| DISEASES 4867 \| NPHP1 \| DISEASES 57539 \| WDR35 \| DISEASES 8239 \| USP9X \| DISEASES 582 \| BBS1 \| DISEASES 58492 \| ZNF77 \| DISEASES 166379 \| BBS12 \| DISEASES 124590 \| USH1G \| DISEASES 10938 \| EHD1 \| DISEASES 8100 \| IFT88 \| DISEASES 7481 \| WNT11 \| DISEASES 5108 \| PCM1 \| DISEASES 2055 \| CLN8 \| DISEASES 5148 \| PDE6G \| DISEASES 6753 \| SSTR3 \| DISEASES 3953 \| LEPR \| DISEASES 9573 \| GDF3 \| DISEASES 4692 \| NDN \| DISEASES 5587 \| PRKD1 \| DISEASES 9001 \| HAP1 \| DISEASES 23265 \| EXOC7 \| DISEASES 84100 \| ARL6 \| DISEASES 6809 \| STX3 \| DISEASES 27031 \| NPHP3 \| DISEASES 84062 \| DTNBP1 \| DISEASES 132884 \| EVC2 \| DISEASES 8481 \| OFD1 \| DISEASES 4649 \| MYO9A \| DISEASES 5828 \| PEX2 \| DISEASES 90410 \| IFT20 \| DISEASES 79770 \| TXNDC15 \| DISEASES 157680 \| VPS13B \| DISEASES 85444 \| LRRCC1 \| DISEASES 149371 \| EXOC8 \| DISEASES 23245 \| ASTN2 \| DISEASES 1639 \| DCTN1 \| DISEASES 65217 \| PCDH15 \| DISEASES 5891 \| MOK \| DISEASES 10806 \| SDCCAG8 \| DISEASES 27185 \| DISC1 \| DISEASES 28982 \| FLVCR1 \| DISEASES 29922 \| NME7 \| DISEASES 57216 \| VANGL2 \| DISEASES 24 \| ABCA4 \| DISEASES 4952 \| OCRL \| DISEASES 5314 \| PKHD1 \| DISEASES 56623 \| INPP5E \| DISEASES 1907 \| EDN2 \| DISEASES 27095 \| TRAPPC3 \| DISEASES 6812 \| STXBP1 \| DISEASES 79140 \| CCDC28B \| DISEASES 22954 \| TRIM32 \| DISEASES 9696 \| CROCC \| DISEASES 9371 \| KIF3B \| DISEASES 22852 \| ANKRD26 \| DISEASES 7536 \| SF1 \| DISEASES 261734 \| NPHP4 \| DISEASES 10159 \| ATP6AP2 \| DISEASES 6103 \| RPGR \| DISEASES 11127 \| KIF3A \| DISEASES 3801 \| KIFC3 \| DISEASES 23322 \| RPGRIP1L \| DISEASES 80173 \| IFT74 \| DISEASES 54875 \| CNTLN \| DISEASES 123016 \| TTC8 \| DISEASES 54903 \| MKS1 \| DISEASES 79738 \| BBS10 \| DISEASES 55812 \| SPATA7 \| DISEASES 10575 \| CCT4 \| DISEASES 4828 \| NMB \| DISEASES 10020 \| GNE \| DISEASES 5048 \| PAFAH1B1 \| DISEASES 7106 \| TSPAN4 \| DISEASES 594857 \| NPS \| DISEASES 64072 \| CDH23 \| DISEASES 57096 \| RPGRIP1 \| DISEASES 1259 \| CNGA1 \| DISEASES 4647 \| MYO7A \| DISEASES 6295 \| SAG \| DISEASES 10640 \| EXOC5 \| DISEASES 91147 \| TMEM67 \| DISEASES 11020 \| IFT27 \| DISEASES 138162 \| C9orf116 \| DISEASES 57545 \| CC2D2A \| DISEASES 3109 \| HLA-DMB \| DISEASES 5923 \| RASGRF1 \| DISEASES 9742 \| IFT140 \| DISEASES 374308 \| PTCHD3 \| DISEASES 79989 \| TTC26 \| DISEASES 92482 \| BBIP1 \| DISEASES 54551 \| MAGEL2 \| DISEASES 388015 \| RTL1 \| DISEASES 51259 \| TMEM216 \| DISEASES 7694 \| ZNF135 \| DISEASES 80184 \| CEP290 \| DISEASES 768206 \| PRCD \| DISEASES
Locus	Symbol \| Locus(Total Locus:21) SDCCAG8 \| 1q43-q44 LZTFL1 \| 3p21.31 IFT27 \| 22q12.3 TRIM32 \| 9q33.1 BBS2 \| 16q13 BBS10 \| 12q21.2 BBS9 \| 7p14.3 NPHP1 \| 2q13 BBS12 \| 4q27 BBS5 \| 2q31.1 TTC8 \| 14q31.3 CEP290 \| 12q21.32 ARL6 \| 3q11.2 IFT172 \| 2p23.3 BBS4 \| 15q24.1 WDPCP \| 2p15 BBS1 \| 11q13.2 BBIP1 \| 10q25.2 BBS7 \| 4q27 MKS1 \| 17q22 MKKS \| 20p12.2

Disease ID	41
Disease	bardet-biedl syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:25) HP:0001162 \| Postaxial hand polydactyly HP:0000580 \| Pigmentary retinopathy HP:0002230 \| Generalized hirsutism HP:0000470 \| Short neck HP:0000426 \| Prominent nasal bridge HP:0000135 \| Hypogonadism HP:0006101 \| Finger syndactyly HP:0004322 \| Short stature HP:0010747 \| Medial flaring of the eyebrow HP:0000822 \| Hypertension HP:0000003 \| Multicystic kidney dysplasia HP:0000365 \| Hearing impairment HP:0001395 \| Hepatic fibrosis HP:0001513 \| Obesity HP:0000100 \| Nephrotic syndrome HP:0000028 \| Cryptorchidism HP:0002167 \| Neurological speech impairment HP:0008736 \| Hypoplasia of penis HP:0000368 \| Low-set, posteriorly rotated ears HP:0000639 \| Nystagmus HP:0008724 \| Hypoplasia of the ovary HP:0000494 \| Downslanted palpebral fissures HP:0001249 \| Intellectual disability HP:0000512 \| Abnormal electroretinogram HP:0003202 \| Skeletal muscle atrophy
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0001513 \| Obesity \| 6 HP:0003774 \| End-stage renal failure \| 2 HP:0000546 \| Retinal degeneration \| 2 HP:0000110 \| Renal dysplasia \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0100754 \| Mania \| 1 HP:0000822 \| Hypertension \| 1 HP:0000618 \| Blindness \| 1 HP:0010442 \| Polydactyly \| 1 HP:0002591 \| Voracious appetite \| 1 HP:0002516 \| Intracranial pressure elevation \| 1 HP:0012622 \| Chronic kidney disease \| 1 HP:0000510 \| Retinitis pigmentosa \| 1 HP:0000556 \| Retinal dystrophy \| 1 HP:0001250 \| Seizures \| 1 HP:0002664 \| Neoplasia \| 1

Disease ID	41
Disease	bardet-biedl syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:11) C2186530 \| kidney disease C1963154 \| renal failure C1550639 \| fistula C0220757 \| tibia vara C0085655 \| polymyositis C0035334 \| pigmentary retinopathy C0035304 \| retinal degeneration C0022661 \| end-stage renal disease C0020619 \| hypogonadism C0019570 \| hirschsprung's disease C0005747 \| blepharospasm
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0035304 \| retinal degeneration \| 2 C0022658 \| kidney disease \| 2 C0035078 \| renal failure \| 1 C0085655 \| polymyositis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:33)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113624356	25402481	379	ARL4D	umls:C0752166	BeFree	Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS disease cases, fails to interact with ARL6-GTP, thus providing a molecular rationale for patient pathologies.	0.001628651	2014	BBS1;ZDHHC24	11	66526181	T	G
rs113624356	25402481	84100	ARL6	umls:C0752166	BeFree	Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS disease cases, fails to interact with ARL6-GTP, thus providing a molecular rationale for patient pathologies.	0.365438769	2014	BBS1;ZDHHC24	11	66526181	T	G
rs113624356	22940089	582	BBS1	umls:C0752166	BeFree	Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.	0.369238955	2012	BBS1;ZDHHC24	11	66526181	T	G
rs113624356	23143442	583	BBS2	umls:C0752166	BeFree	To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP).	0.377663585	2012	BBS1;ZDHHC24	11	66526181	T	G
rs113624356	25402481	582	BBS1	umls:C0752166	BeFree	Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS disease cases, fails to interact with ARL6-GTP, thus providing a molecular rationale for patient pathologies.	0.369238955	2014	BBS1;ZDHHC24	11	66526181	T	G
rs113994178	NA	582	BBS1	umls:C0752166	CLINVAR	NA	0.369238955	NA	NA	11	66510657	AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG	-
rs113994189	NA	585	BBS4	umls:C0752166	CLINVAR	NA	0.368977445	NA	BBS4	15	72709480	A	-
rs113994190	NA	585	BBS4	umls:C0752166	CLINVAR	NA	0.368977445	NA	BBS4	15	72712308	G	C
rs113994191	NA	585	BBS4	umls:C0752166	CLINVAR	NA	0.368977445	NA	BBS4	15	72722792	A	C
rs113994192	NA	585	BBS4	umls:C0752166	CLINVAR	NA	0.368977445	NA	BBS4	15	72712242	A	G
rs113994195	NA	8195	MKKS	umls:C0752166	CLINVAR	NA	0.365710211	NA	MKKS	20	10413074	AGTACTACTAA	-
rs113994196	NA	8195	MKKS	umls:C0752166	CLINVAR	NA	0.365710211	NA	MKKS	20	10412638	-	CAGG
rs119466002	NA	55212	BBS7	umls:C0752166	CLINVAR	NA	0.369172942	NA	BBS7	4	121854790	G	A
rs137852857	26085087	27241	BBS9	umls:C0752166	BeFree	We show that the Bardet-Biedl syndrome-causing G141R mutation in BBS9 likely results in misfolding of the β-propeller.	0.363810118	2015	BBS9	7	33177570	G	A
rs137854907	NA	84100	ARL6	umls:C0752166	CLINVAR	NA	0.365438769	NA	ARL6	3	97784972	T	C
rs141521925	NA	79738	BBS10	umls:C0752166	CLINVAR	NA	0.365167327	NA	BBS10	12	76346249	T	C
rs151344630	NA	166379	BBS12	umls:C0752166	CLINVAR	NA	0.361357209	NA	BBS12	4	122742215	C	G
rs179363897	NA	129880	BBS5	umls:C0752166	CLINVAR	NA	0.366534468	NA	BBS5	2	169492900	G	A
rs193922709	NA	582	BBS1	umls:C0752166	CLINVAR	NA	0.369238955	NA	BBS1	11	66519695	G	A
rs193922710	NA	583	BBS2	umls:C0752166	CLINVAR	NA	0.377663585	NA	BBS2	16	56502382	G	A
rs193922711	NA	583	BBS2	umls:C0752166	CLINVAR	NA	0.377663585	NA	BBS2	16	56497770	A	-
rs35520756	NA	582	BBS1	umls:C0752166	CLINVAR	NA	0.369238955	NA	BBS1	11	66519725	G	A
rs515726134	NA	92482	BBIP1	umls:C0752166	CLINVAR	NA	0.240271442	NA	PDCD4;BBIP1	10	110900466	A	C
rs515726135	NA	54585	LZTFL1	umls:C0752166	CLINVAR	NA	0.240542884	NA	LZTFL1	3	45835653	A	G
rs515726136	NA	54585	LZTFL1	umls:C0752166	CLINVAR	NA	0.240542884	NA	LZTFL1	3	45827459	C	A
rs549625604	NA	79738	BBS10	umls:C0752166	CLINVAR	NA	0.365167327	NA	BBS10	12	76347713	-	A
rs587777829	NA	582	BBS1	umls:C0752166	CLINVAR	NA	0.369238955	NA	BBS1	11	66514679	G	A
rs727503818	NA	79738	BBS10	umls:C0752166	CLINVAR	NA	0.365167327	NA	BBS10	12	76346894	T	-
rs727503819	NA	79738	BBS10	umls:C0752166	CLINVAR	NA	0.365167327	NA	BBS10	12	76346895	T	-
rs761101213	NA	79738	BBS10	umls:C0752166	CLINVAR	NA	0.365167327	NA	BBS10	12	76347298	A	-
rs762511626	NA	27241	BBS9	umls:C0752166	CLINVAR	NA	0.363810118	NA	BBS9	7	33349108	T	A
rs786204444	NA	582	BBS1	umls:C0752166	CLINVAR	NA	0.369238955	NA	BBS1	11	66515543	C	T
rs797044604	NA	80184	CEP290	umls:C0752166	CLINVAR	NA	0.364895885	NA	CEP290	12	88086450	C	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000426	Prominent nasal bridge	MP:0004726	abnormal nasal capsule morphology;HP:0001399	Hepatic failure

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000365	Hearing impairment	MP:0010465	aberrant origin of the right subclavian artery;HP:0000368	Low-set, posteriorly rotated ears

Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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