Bardet-Biedl Syndrome 13 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BBS13 MCID: BRD033 MIFTS: 44	Bardet-Biedl Syndrome 13 (BBS13) Categories: Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Bardet-Biedl Syndrome 13

MalaCards integrated aliases for Bardet-Biedl Syndrome 13:

Name: Bardet-Biedl Syndrome 13 ⁵⁶ ¹² ⁷³ ²⁹ ⁶ ¹⁵ ⁷¹

Bbs13 ⁵⁶ ¹² ⁷³

Bardet-Biedl Syndrome, Type 13 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
limited clinical information provided for patients with mks1 mutations (last curated october 2014)

HPO:

³¹

bardet-biedl syndrome 13:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Eye diseases Gastrointestinal diseases Nephrological diseases Reproductive diseases Endocrine diseases Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110135

OMIM ⁵⁶ 615990

OMIM Phenotypic Series ⁵⁶ PS209900

MeSH ⁴³ D020788

ICD10 ³² Q87.89

MedGen ⁴¹ C2673873

SNOMED-CT via HPO ⁶⁸ 224958001 228156007 247578003 more

UMLS ⁷¹ C2673873

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Summaries for Bardet-Biedl Syndrome 13

UniProtKB/Swiss-Prot : ⁷³ Bardet-Biedl syndrome 13: 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 13, also known as bbs13, is related to nephronophthisis 1 and encephalocele. An important gene associated with Bardet-Biedl Syndrome 13 is MKS1 (MKS Transition Zone Complex Subunit 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include heart, kidney and eye, and related phenotypes are obesity and intellectual disability

Disease Ontology : ¹² A Bardet-Biedl syndrome that has material basis in compound heterozygous mutation in the MKS1 gene on chromosome 17q22.

OMIM : ⁵⁶ BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615990)

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Related Diseases for Bardet-Biedl Syndrome 13

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 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)

#	Related Disease	Score	Top Affiliating Genes
1	nephronophthisis 1	10.5	MKS1 CC2D2B
2	encephalocele	10.3	MKS1 CEP290
3	joubert syndrome 6	10.3	MKS1 CEP290
4	joubert syndrome 7	10.3	MKS1 CEP290
5	leber congenital amaurosis 6	10.3	MKS1 CEP290
6	meckel syndrome, type 4	10.3	MKS1 CEP290
7	joubert syndrome 5	10.3	MKS1 CEP290
8	nonsyndromic retinitis pigmentosa	10.3	TTC8 BBS1
9	joubert syndrome 2	10.2	MKS1 CEP290
10	meckel syndrome, type 5	10.2	MKS1 CEP290 CC2D2B
11	nephronophthisis 14	10.2	CEP290 CC2D2B
12	meckel syndrome, type 2	10.2	MKS1 CEP290
13	bardet-biedl syndrome 12	10.2	WDPCP BBS12
14	pathologic nystagmus	10.1	MKS1 CEP290 BBS1
15	retinal aplasia	10.1	SDCCAG8 CEP290
16	joubert syndrome 4	10.1	MKS1 CEP290
17	obsolete: postaxial polydactyly of fingers	10.1	BBS10 BBIP1
18	nephronophthisis 13	10.1	SDCCAG8 CEP290
19	inherited retinal disorder	10.1	CEP290 BBS10 BBS1
20	meckel syndrome, type 3	10.1	MKS1 CEP290
21	cranioectodermal dysplasia 1	10.0	MKS1 CEP290 BBS9
22	nephronophthisis 16	10.0	SDCCAG8 CEP290
23	nephronophthisis 12	10.0	SDCCAG8 CEP290
24	borjeson-forssman-lehmann syndrome	10.0	BBS12 BBS10
25	nephronophthisis 11	10.0	SDCCAG8 MKS1 CEP290
26	nephronophthisis 7	10.0	SDCCAG8 MKS1 CEP290
27	bardet-biedl syndrome 4	10.0	CEP290 BBS4
28	nephronophthisis 9	10.0	SDCCAG8 MKS1 CEP290
29	joubert syndrome 3	10.0	WDPCP MKS1 CEP290
30	orofaciodigital syndrome vi	10.0	WDPCP MKS1 CEP290
31	ciliopathy	9.9	SDCCAG8 BBS7 BBS1
32	chromosome 2q35 duplication syndrome	9.9	WDPCP BBS10 BBS1
33	mckusick-kaufman syndrome	9.8	BBS7 BBS4 BBS12 BBS1
34	hydrolethalus syndrome 1	9.8	MKS1 CEP290
35	cystic kidney disease	9.8	MKS1 CEP290 BBS4 BBS1
36	simpson-golabi-behmel syndrome, type 2	9.8	SDCCAG8 CEP290 BBS4
37	meckel syndrome, type 6	9.8	WDPCP MKS1 CEP290 CC2D2B
38	coloboma of macula	9.8	SDCCAG8 MKS1 CEP290
39	physical disorder	9.8	MKS1 CEP290 BBS4 BBS1
40	nephronophthisis 2	9.8	SDCCAG8 MKS1 CEP290 BBS1
41	alstrom syndrome	9.7	CEP290 BBS7 BBS5 BBS10 BBS1
42	short-rib thoracic dysplasia 3 with or without polydactyly	9.7	WDPCP BBS10 BBIP1
43	orofaciodigital syndrome	9.6	WDPCP MKS1 CEP290 BBS4
44	polycystic kidney disease 4 with or without polycystic liver disease	9.6	SDCCAG8 MKS1 CEP290 BBS4
45	bardet-biedl syndrome 10	9.6	BBS7 BBS4 BBS12 BBS10 BBS1
46	visceral heterotaxy	9.6	MKS1 CEP290 BBS7 BBS4 BBS1
47	night blindness, congenital stationary, autosomal dominant 3	9.6	BBS9 BBS5 BBS4 BBS12 BBS10
48	renal-hepatic-pancreatic dysplasia	9.5	TRIM32 SDCCAG8 CEP290
49	retinal degeneration	9.5	CEP290 BBS7 BBS4 BBS10 BBS1
50	kartagener syndrome	9.4	SDCCAG8 MKS1 CEP290 BBS4 BBS1

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 13:

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Symptoms & Phenotypes for Bardet-Biedl Syndrome 13

Human phenotypes related to Bardet-Biedl Syndrome 13:

³¹

#	Description	HPO Source Accession
1	obesity ³¹	HP:0001513
2	intellectual disability ³¹	HP:0001249
3	global developmental delay ³¹	HP:0001263
4	rod-cone dystrophy ³¹	HP:0000510
5	polydactyly ³¹	HP:0010442

Symptoms via clinical synopsis from OMIM:

⁵⁶

Growth Weight:
obesity

Skeletal Feet:
polydactyly

Head And Neck Eyes:
retinitis pigmentosa

Skeletal Hands:
polydactyly

Neurologic Central Nervous System:
mental retardation
delayed development

Clinical features from OMIM:

615990

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 13:

⁴⁵ (show all 13)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.3	BBIP1 BBS1 BBS10 BBS12 BBS4 BBS5
2	cellular	MP:0005384	10.19	BBS1 BBS10 BBS12 BBS4 BBS7 CEP290
3	behavior/neurological	MP:0005386	10.16	BBIP1 BBS1 BBS10 BBS12 BBS4 BBS5
4	homeostasis/metabolism	MP:0005376	10.13	BBS1 BBS10 BBS12 BBS4 BBS5 BBS7
5	nervous system	MP:0003631	10.13	BBIP1 BBS1 BBS10 BBS12 BBS4 BBS5
6	craniofacial	MP:0005382	10.08	BBS1 BBS4 BBS7 CEP290 MKS1 SDCCAG8
7	mortality/aging	MP:0010768	10.07	BBIP1 BBS1 BBS10 BBS4 BBS7 CEP290
8	adipose tissue	MP:0005375	10	BBS1 BBS10 BBS12 BBS4 BBS5 BBS9
9	renal/urinary system	MP:0005367	9.96	BBS1 BBS10 BBS12 BBS4 BBS7 CEP290
10	limbs/digits/tail	MP:0005371	9.95	BBS1 BBS5 BBS7 BBS9 MKS1 SDCCAG8
11	respiratory system	MP:0005388	9.63	BBS1 BBS4 CEP290 MKS1 TTC8 WDPCP
12	vision/eye	MP:0005391	9.4	BBIP1 BBS1 BBS10 BBS12 BBS4 BBS5
13	taste/olfaction	MP:0005394	9.35	BBS1 BBS4 BBS7 CEP290 TTC8

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Drugs & Therapeutics for Bardet-Biedl Syndrome 13

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 13

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Genetic Tests for Bardet-Biedl Syndrome 13

Genetic tests related to Bardet-Biedl Syndrome 13:

#	Genetic test	Affiliating Genes
1	Bardet-Biedl Syndrome 13 ²⁹	MKS1

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Anatomical Context for Bardet-Biedl Syndrome 13

MalaCards organs/tissues related to Bardet-Biedl Syndrome 13:

⁴⁰

Heart, Kidney, Eye, Liver

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Publications for Bardet-Biedl Syndrome 13

Articles related to Bardet-Biedl Syndrome 13:

#	Title	Authors	PMID	Year
1	Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. ⁵⁶ ⁶	Xing DJ...Jin ZB	24608809	2014
2	Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. ⁵⁶ ⁶	Leitch CC...Katsanis N	18327255	2008
3	Bardet-Biedl Syndrome ⁶¹ ⁶	Forsythe E...Beales PL	20301537	2003
4	Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. ⁶	Badano JL...Katsanis N	12567324	2003
5	Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing. ⁶¹	Nikkhah E...Golchin N	29633607	2018
6	Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. ⁶¹	Aliferis K...Dollfus H	22004009	2012
7	Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. ⁶¹	Chen J...Hejtmancik JF	21642631	2011
8	Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. ⁶¹	Muller J...Dollfus H	20177705	2010

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Genes for Bardet-Biedl Syndrome 13

Genes related to Bardet-Biedl Syndrome 13 (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	1328.13	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20301537 24608809 18327255
2	CC2D2B	Coiled-Coil And C2 Domain Containing 2B	Protein Coding	11.75	DISEASES inferred ¹⁵ ¹⁵
3	BBS12	Bardet-Biedl Syndrome 12	Protein Coding	7.98	DISEASES inferred ¹⁵
4	BBS5	Bardet-Biedl Syndrome 5	Protein Coding	7.92	DISEASES inferred ¹⁵
5	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	7.9	DISEASES inferred ¹⁵
6	BBS10	Bardet-Biedl Syndrome 10	Protein Coding	7.89	DISEASES inferred ¹⁵
7	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	7.8	DISEASES inferred ¹⁵
8	CEP290	Centrosomal Protein 290	Protein Coding	7.8	DISEASES inferred ¹⁵
9	TTC8	Tetratricopeptide Repeat Domain 8	Protein Coding	7.72	DISEASES inferred ¹⁵
10	BBS9	Bardet-Biedl Syndrome 9	Protein Coding	7.67	DISEASES inferred ¹⁵
11	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	7.67	DISEASES inferred ¹⁵
12	WDPCP	WD Repeat Containing Planar Cell Polarity Effector	Protein Coding	7.61	DISEASES inferred ¹⁵
13	BBIP1	BBSome Interacting Protein 1	Protein Coding	7.48	DISEASES inferred ¹⁵
14	TRIM32	Tripartite Motif Containing 32	Protein Coding	7.4	DISEASES inferred ¹⁵
15	SDCCAG8	Serologically Defined Colon Cancer Antigen 8	Protein Coding	7.36	DISEASES inferred ¹⁵

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Variations for Bardet-Biedl Syndrome 13

ClinVar genetic disease variations for Bardet-Biedl Syndrome 13:

⁶ (show top 50) (show all 54) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MKS1	NM_001165927.1(MKS1):c.1082_1084del (p.Phe361del)	deletion	Pathogenic	1394	rs587777804	17:56285517-56285519	17:58208156-58208158
2	MKS1	NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs)	duplication	Pathogenic/Likely pathogenic	56617	rs386834044	17:56283862-56283863	17:58206501-58206502
3	MKS1	NM_001165927.1(MKS1):c.995-2A>C	SNV	Pathogenic/Likely pathogenic	194102	rs794727070	17:56285946-56285946	17:58208585-58208585
4	MKS1	NM_001165927.1(MKS1):c.814C>T (p.Arg272Ter)	SNV	Pathogenic/Likely pathogenic	211503	rs797045706	17:56290357-56290357	17:58212996-58212996
5	MKS1	NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu)	SNV	Pathogenic/Likely pathogenic	217672	rs773684291	17:56285320-56285320	17:58207959-58207959
6	MKS1	NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del)	deletion	Pathogenic/Likely pathogenic	217677	rs754279998	17:56285514-56285516	17:58208153-58208155
7	MKS1	NM_001165927.1(MKS1):c.485+1G>A	SNV	Pathogenic/Likely pathogenic	56624	rs201933838	17:56292101-56292101	17:58214740-58214740
8	MKS1	NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter)	SNV	Pathogenic/Likely pathogenic	554581	rs1555599412	17:56290372-56290372	17:58213011-58213011
9	MKS1	NM_001165927.1(MKS1):c.50+232A>G	SNV	Likely pathogenic	558654	rs1555601787	17:56296591-56296591	17:58219230-58219230
10	MKS1	NM_001165927.1(MKS1):c.828+1G>A	SNV	Likely pathogenic	556312	rs756102768	17:56290342-56290342	17:58212981-58212981
11	MKS1	NM_001165927.1(MKS1):c.485+2T>G	SNV	Likely pathogenic	553842	rs1376664664	17:56292100-56292100	17:58214739-58214739
12	MKS1	NM_001165927.1(MKS1):c.160+2T>C	SNV	Likely pathogenic	550954	rs375170572	17:56295979-56295979	17:58218618-58218618
13	MKS1	NM_001165927.1(MKS1):c.1404_1432del (p.Arg469fs)	deletion	Likely pathogenic	557671	rs1555596845	17:56283854-56283882	17:58206493-58206521
14	MKS1	NM_001165927.1(MKS1):c.1378-2A>G	SNV	Likely pathogenic	556614	rs1555596943	17:56283910-56283910	17:58206549-58206549
15	MKS1	NM_001165927.1(MKS1):c.50+282_50+286dup	duplication	Likely pathogenic	56625	rs386834051	17:56296536-56296537	17:58219175-58219176
16	MKS1	NM_001165927.1(MKS1):c.1364del (p.Pro455fs)	deletion	Likely pathogenic	371771	rs865870355	17:56284459-56284459	17:58207098-58207098
17	MKS1	NM_001165927.1(MKS1):c.337dup (p.Arg113fs)	duplication	Likely pathogenic	371770	rs775043799	17:56293498-56293499	17:58216137-58216138
18	MKS1	NM_001165927.1(MKS1):c.1136-2A>G	SNV	Likely pathogenic	556907	rs1488635637	17:56285364-56285364	17:58208003-58208003
19	MKS1	NM_001165927.1(MKS1):c.50+313T>C	SNV	Likely pathogenic	1390	rs386834052	17:56296510-56296510	17:58219149-58219149
20	MKS1	NM_001165927.1(MKS1):c.994+1G>A	SNV	Likely pathogenic	1391	rs199874059	17:56288019-56288019	17:58210658-58210658
21	MKS1	NM_001165927.1(MKS1):c.154_160del (p.Thr52fs)	deletion	Likely pathogenic	56619	rs386834046	17:56295981-56295987	17:58218620-58218626
22	MKS1	NM_001165927.1(MKS1):c.478C>T (p.Arg160Ter)	SNV	Likely pathogenic	235405	rs756853299	17:56292109-56292109	17:58214748-58214748
23	MKS1	NM_001165927.1(MKS1):c.1571G>A (p.Arg524Gln)	SNV	Conflicting interpretations of pathogenicity	183012	rs199910690	17:56283519-56283519	17:58206158-58206158
24	MKS1	NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser)	SNV	Conflicting interpretations of pathogenicity	188334	rs786204222	17:56294055-56294055	17:58216694-58216694
25	MKS1	NM_001165927.1(MKS1):c.387G>A (p.Glu129=)	SNV	Conflicting interpretations of pathogenicity	1392	rs386834048	17:56293449-56293449	17:58216088-58216088
26	MKS1	NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp)	SNV	Conflicting interpretations of pathogenicity	1393	rs137853105	17:56283840-56283840	17:58206479-58206479
27	MKS1	NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys)	SNV	Conflicting interpretations of pathogenicity	217682	rs779953982	17:56292124-56292124	17:58214763-58214763
28	MKS1	NM_001165927.1(MKS1):c.1579C>T (p.Arg527Cys)	SNV	Conflicting interpretations of pathogenicity	220047	rs35464956	17:56283511-56283511	17:58206150-58206150
29	MKS1	NM_001165927.1(MKS1):c.1033A>G (p.Thr345Ala)	SNV	Conflicting interpretations of pathogenicity	260879	rs745809472	17:56285906-56285906	17:58208545-58208545
30	MKS1	NM_001165927.1(MKS1):c.50+325C>G	SNV	Conflicting interpretations of pathogenicity	324170	rs761061379	17:56296498-56296498	17:58219137-58219137
31	MKS1	NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys)	SNV	Uncertain significance	324158	rs775558298	17:56283689-56283689	17:58206328-58206328
32	MKS1	NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys)	SNV	Uncertain significance	324168	rs753620277	17:56294074-56294074	17:58216713-58216713
33	MKS1	NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys)	SNV	Uncertain significance	183011	rs730882120	17:56284471-56284471	17:58207110-58207110
34	MKS1	NM_001165927.1(MKS1):c.88C>T (p.His30Tyr)	SNV	Uncertain significance	281544	rs199832333	17:56296053-56296053	17:58218692-58218692
35	MKS1	NM_001165927.1(MKS1):c.80A>G (p.Asn27Ser)	SNV	Uncertain significance	126271	rs587779734	17:56296061-56296061	17:58218700-58218700
36	MKS1	NM_001165927.1(MKS1):c.793_795GAG[5] (p.Glu268dup)	short repeat	Uncertain significance	555649	rs780100856	17:56290366-56290367	17:58213005-58213006
37	MKS1	NM_001165927.1(MKS1):c.1584del (p.Met529fs)	deletion	Uncertain significance	554941	rs1555596555	17:56283506-56283506	17:58206145-58206145
38	MKS1	NM_001165927.1(MKS1):c.1501_1504del (p.Ser501fs)	deletion	Uncertain significance	551955	rs1555596710	17:56283698-56283701	17:58206337-58206340
39	MKS1	NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly)	SNV	Uncertain significance	445724	rs151023718	17:56290344-56290344	17:58212983-58212983
40	MKS1	NM_001165927.1(MKS1):c.1258_1284del (p.Thr420_Glu428del)	deletion	Uncertain significance	556256	rs1555597302	17:56284539-56284565	17:58207178-58207204
41	MKS1	NM_001165927.1(MKS1):c.1145C>T (p.Pro382Leu)	SNV	Uncertain significance	219658	rs763534380	17:56285353-56285353	17:58207992-58207992
42	MKS1	NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln)	SNV	Uncertain significance	235814	rs202112856	17:56293498-56293498	17:58216137-58216137
43	MKS1	NM_001165927.1(MKS1):c.514G>A (p.Val172Ile)	SNV	Uncertain significance	241188	rs200185068	17:56291720-56291720	17:58214359-58214359
44	MKS1	NM_001165927.1(MKS1):c.1377+3_1377+5delinsAAT	indel	Uncertain significance	555057	rs1555597194	17:56284441-56284443	17:58207080-58207082
45	MKS1	NM_001165927.1(MKS1):c.50+198_50+220del	deletion	Uncertain significance	557821	rs1244307754	17:56296603-56296625	17:58219242-58219264
46	MKS1	NM_001165927.1(MKS1):c.1591G>T (p.Glu531Ter)	SNV	Uncertain significance	551006	rs1555596538	17:56283499-56283499	17:58206138-58206138
47	MKS1	NM_001165927.1(MKS1):c.1467del (p.Phe489fs)	deletion	Uncertain significance	555641	rs780161503	17:56283735-56283735	17:58206374-58206374
48	MKS1	NM_001165927.1(MKS1):c.1570C>T (p.Arg524Ter)	SNV	Uncertain significance	554287	rs772719574	17:56283520-56283520	17:58206159-58206159
49	MKS1	NM_001165927.1(MKS1):c.1301_1315del (p.Glu434_Phe439delinsVal)	deletion	Uncertain significance	552912	rs1555597266	17:56284508-56284522	17:58207147-58207161
50	MKS1	NM_001165927.1(MKS1):c.1238C>T (p.Thr413Ile)	SNV	Uncertain significance	558281	rs760184188	17:56285260-56285260	17:58207899-58207899

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 13:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	MKS1	p.Cys492Trp	VAR_062292	rs137853105

Sources

Expression for Bardet-Biedl Syndrome 13

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 13.

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Pathways for Bardet-Biedl Syndrome 13

Pathways related to Bardet-Biedl Syndrome 13 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.13	TTC8 SDCCAG8 MKS1 CEP290 BBS9 BBS7
2	Cargo trafficking to the periciliary membrane ⁶⁵ Show member pathways ARL13B-mediated ciliary trafficking of INPP5E ⁶⁵ BBSome-mediated cargo-targeting to cilium ⁶⁵ Trafficking of myristoylated proteins to the cilium ⁶⁵ VxPx cargo-targeting to cilium ⁶⁵	11.64	TTC8 BBS9 BBS7 BBS5 BBS4 BBS12

Sources

GO Terms for Bardet-Biedl Syndrome 13

Cellular components related to Bardet-Biedl Syndrome 13 according to GeneCards Suite gene sharing:

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.33	WDPCP TTC8 TRIM32 SDCCAG8 MKS1 CEP290
2	cytosol	GO:0005829	10.28	TTC8 TRIM32 SDCCAG8 MKS1 CEP290 BBS9
3	cytoskeleton	GO:0005856	10.1	WDPCP TTC8 SDCCAG8 MKS1 CEP290 BBS9
4	centrosome	GO:0005813	10.02	TTC8 SDCCAG8 MKS1 CEP290 BBS7 BBS4
5	microtubule organizing center	GO:0005815	9.97	TTC8 SDCCAG8 MKS1 CEP290 BBS9 BBS7
6	cell projection	GO:0042995	9.97	WDPCP TTC8 SDCCAG8 MKS1 CEP290 BBS9
7	ciliary basal body	GO:0036064	9.86	TTC8 SDCCAG8 MKS1 CEP290 BBS7 BBS5
8	ciliary membrane	GO:0060170	9.85	TTC8 BBS9 BBS7 BBS5 BBS4 BBS1
9	centriolar satellite	GO:0034451	9.83	SDCCAG8 CEP290 BBS9 BBS5 BBS4
10	centriole	GO:0005814	9.81	SDCCAG8 MKS1 CEP290 BBS4
11	axoneme	GO:0005930	9.8	WDPCP BBS7 BBS5 BBS1
12	ciliary transition zone	GO:0035869	9.76	MKS1 CEP290 BBS9 BBS4
13	photoreceptor connecting cilium	GO:0032391	9.7	TTC8 CEP290 BBS4
14	non-motile cilium	GO:0097730	9.58	TTC8 BBS4
15	pericentriolar material	GO:0000242	9.57	BBS9 BBS4
16	MKS complex	GO:0036038	9.56	MKS1 CEP290
17	BBSome	GO:0034464	9.5	TTC8 BBS9 BBS7 BBS5 BBS4 BBS1
18	cilium	GO:0005929	9.4	WDPCP TTC8 MKS1 CEP290 BBS9 BBS7

Biological processes related to Bardet-Biedl Syndrome 13 according to GeneCards Suite gene sharing:

(show all 20)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.93	BBS9 BBS7 BBS5 BBS4 BBS10 BBS1
2	protein transport	GO:0015031	9.92	TTC8 CEP290 BBS9 BBS7 BBS5 BBS4
3	visual perception	GO:0007601	9.85	BBS9 BBS7 BBS5 BBS4 BBS10 BBS1
4	ciliary basal body-plasma membrane docking	GO:0097711	9.73	SDCCAG8 MKS1 CEP290
5	smoothened signaling pathway	GO:0007224	9.72	WDPCP MKS1 BBS7
6	heart looping	GO:0001947	9.71	BBS7 BBS5 BBS4
7	photoreceptor cell maintenance	GO:0045494	9.71	BBS4 BBS12 BBS10 BBS1
8	retina homeostasis	GO:0001895	9.7	BBS4 BBS10 BBS1
9	intracellular transport	GO:0046907	9.67	BBS7 BBS5 BBS4
10	protein localization to cilium	GO:0061512	9.65	BBS9 BBS4 BBS1
11	fat cell differentiation	GO:0045444	9.65	TTC8 TRIM32 BBS9 BBS7 BBS4
12	cilium assembly	GO:0060271	9.65	WDPCP TTC8 MKS1 CEP290 BBS9 BBS7
13	non-motile cilium assembly	GO:1905515	9.63	TTC8 MKS1 BBS7 BBS4 BBS10 BBS1
14	melanosome transport	GO:0032402	9.61	BBS7 BBS5 BBS4
15	inner ear receptor cell stereocilium organization	GO:0060122	9.59	TTC8 MKS1
16	motile cilium assembly	GO:0044458	9.58	MKS1 BBS5
17	chaperone-mediated protein complex assembly	GO:0051131	9.58	BBS12 BBS10
18	regulation of stress fiber assembly	GO:0051492	9.57	TTC8 BBS4
19	sensory processing	GO:0050893	9.51	TTC8 BBS4
20	cell projection organization	GO:0030030	9.36	WDPCP TTC8 SDCCAG8 MKS1 CEP290 BBS9

Molecular functions related to Bardet-Biedl Syndrome 13 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.8	WDPCP TTC8 TRIM32 SDCCAG8 MKS1 CEP290
2	RNA polymerase II repressing transcription factor binding	GO:0001103	9.1	TTC8 BBS7 BBS5 BBS4 BBS10 BBS1

Sources

Sources for Bardet-Biedl Syndrome 13

¹ BioSystems

² BitterDB

³ CDC

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

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⁴¹ MedGen

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵⁴ Novoseek

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⁵⁶ OMIM

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Bardet-Biedl Syndrome 13 (BBS13)

Aliases & Classifications for Bardet-Biedl Syndrome 13

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Expression for Bardet-Biedl Syndrome 13

Pathways for Bardet-Biedl Syndrome 13

Pathways related to Bardet-Biedl Syndrome 13 according to GeneCards Suite gene sharing:

GO Terms for Bardet-Biedl Syndrome 13

Cellular components related to Bardet-Biedl Syndrome 13 according to GeneCards Suite gene sharing:

Biological processes related to Bardet-Biedl Syndrome 13 according to GeneCards Suite gene sharing:

Molecular functions related to Bardet-Biedl Syndrome 13 according to GeneCards Suite gene sharing:

Sources for Bardet-Biedl Syndrome 13