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 ⁵⁷ ¹² ⁷⁴ ²⁹ ⁶ ¹⁵ ⁷²

Bbs13 ⁵⁷ ¹² ⁷⁴

Bardet-Biedl Syndrome, Type 13 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

bardet-biedl syndrome 13:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Fetal 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 ⁵⁷ 615990 PS209900

MeSH ⁴⁴ D020788

ICD10 ³³ Q87.89

MedGen ⁴² C2673873

UMLS ⁷² C2673873

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Summaries for Bardet-Biedl Syndrome 13

UniProtKB/Swiss-Prot : ⁷⁴ 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 bardet-biedl syndrome 12 and meckel syndrome, type 7. An important gene associated with Bardet-Biedl Syndrome 13 is MKS1 (MKS Transition Zone Complex Subunit 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include heart, 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 : ⁵⁷ 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 all 48)

#	Related Disease	Score	Top Affiliating Genes
1	bardet-biedl syndrome 12	10.6	WDPCP BBS12
2	meckel syndrome, type 7	10.5	NPHP3 MKS1
3	joubert syndrome with ocular anomalies	10.4	MKS1 AHI1
4	meckel syndrome, type 2	10.4	TMEM67 MKS1
5	nephronophthisis 1	10.4	NPHP3 AHI1
6	polydactyly, postaxial, type a1	10.4	CC2D2A BBS12
7	bardet-biedl syndrome 11	10.3	TRIM32 BBS12
8	nonsyndromic retinitis pigmentosa	10.3	BBS2 BBS1
9	infantile nephronophthisis	10.2	TTC21B NPHP3
10	meckel syndrome, type 4	10.2	MKS1 CEP290
11	joubert syndrome 17	10.2	WDPCP CEP290
12	joubert syndrome with oculorenal anomalies	10.2	CEP290 CC2D2A
13	nephronophthisis 7	10.2	TRIM32 BBS1
14	bardet-biedl syndrome 3	10.1	BBS4 BBS2 BBS1
15	bardet-biedl syndrome 18	10.1	BBS4 BBS2 BBS1
16	bardet-biedl syndrome 4	10.1	BBS4 BBS2 BBS1
17	bardet-biedl syndrome 17	10.1	BBS4 BBS2 BBS1
18	bardet-biedl syndrome 19	10.1	BBS2 BBS10
19	congenital hepatic fibrosis	10.0	TMEM67 RPGRIP1L CC2D2A
20	coach syndrome	10.0	TMEM67 RPGRIP1L CC2D2A
21	cystic kidney disease	10.0	TMEM67 NPHP3 CC2D2A
22	retinal aplasia	10.0	SDCCAG8 CEP290
23	nephronophthisis 2	10.0	NPHP3 MKS1
24	mckusick-kaufman syndrome	9.9	BBS4 BBS2 BBS12 BBS1
25	bardet-biedl syndrome 6	9.8	BBS4 BBS2 BBS10 BBS1
26	bardet-biedl syndrome 8	9.8	BBS4 BBS2 BBS10 BBS1
27	nephronophthisis 16	9.8	SDCCAG8 CEP290
28	encephalocele	9.8	TMEM67 MKS1 CEP290 CC2D2A
29	bardet-biedl syndrome 1	9.7	CCDC28B BBS4 BBS2 BBS10 BBS1
30	bardet-biedl syndrome 16	9.6	SDCCAG8 CCDC28B BBS1 ALMS1
31	joubert syndrome 6	9.6	TMEM67 MKS1 CEP290 AHI1
32	alstrom syndrome	9.6	BBS2 BBS1 ALMS1
33	hydrolethalus syndrome 1	9.4	TMEM67 MKS1 BBS4 BBS2 AHI1
34	polydactyly	9.4	TTC21B MKS1 BBS4 BBS2 BBS10 BBS1
35	pathologic nystagmus	9.4	WDPCP TTC21B TMEM67 MKS1 CEP290 CCDC28B
36	meckel syndrome, type 3	9.3	TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A
37	meckel syndrome, type 6	9.2	WDPCP TMEM67 RPGRIP1L MKS1 CC2D2A AHI1
38	bardet-biedl syndrome 14	9.0	TMEM67 CEP290 BBS2 BBS12 BBS10 BBS1
39	leber congenital amaurosis	8.9	NPHP3 CEP290 ALMS1 AHI1
40	bardet-biedl syndrome 15	8.8	WDPCP TMEM67 RPGRIP1L NPHP3 CC2D2A BBS4
41	senior-loken syndrome 1	8.5	TTC21B TMEM67 SDCCAG8 NPHP3 MKS1 CEP290
42	nephronophthisis 11	8.5	TMEM67 SDCCAG8 RPGRIP1L NPHP3 CEP290 CC2D2A
43	joubert syndrome 1	8.1	WDPCP TTC21B TMEM67 RPGRIP1L NPHP3 MKS1
44	nephronophthisis	8.0	TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP3 MKS1
45	meckel syndrome, type 1	7.8	WDPCP TTC21B TMEM67 RPGRIP1L MKS1 LOC105371841
46	fundus dystrophy	7.6	CEP290 CC2D2A BBS4 BBS2 BBS12 BBS10
47	retinitis pigmentosa	7.3	SDCCAG8 RPGRIP1L NPHP3 CEP290 CC2D2A BBS4
48	bardet-biedl syndrome	6.5	WDPCP TTC21B TRIM32 TMEM67 SDCCAG8 RPGRIP1L

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:

³²

#	Description	HPO Source Accession
1	obesity ³²	HP:0001513
2	intellectual disability ³²	HP:0001249
3	global developmental delay ³²	HP:0001263
4	rod-cone dystrophy ³²	HP:0000510
5	polydactyly ³²	HP:0010442

Symptoms via clinical synopsis from OMIM:

⁵⁷

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:

⁴⁶ (show all 19)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.44	AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
2	cellular	MP:0005384	10.4	AHI1 ALMS1 BBS1 BBS10 BBS2 BBS4
3	behavior/neurological	MP:0005386	10.32	AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
4	homeostasis/metabolism	MP:0005376	10.32	AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
5	nervous system	MP:0003631	10.3	AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
6	craniofacial	MP:0005382	10.29	BBS1 BBS4 CC2D2A CEP290 MKS1 NPHP3
7	cardiovascular system	MP:0005385	10.22	BBS1 BBS4 CC2D2A CEP290 MKS1 NPHP3
8	renal/urinary system	MP:0005367	10.22	AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
9	mortality/aging	MP:0010768	10.18	AHI1 BBS1 BBS10 BBS4 CC2D2A CEP290
10	digestive/alimentary	MP:0005381	10.14	BBS2 BBS4 CC2D2A MKS1 RPGRIP1L SDCCAG8
11	adipose tissue	MP:0005375	10.13	ALMS1 BBS1 BBS10 BBS12 BBS2 BBS4
12	embryo	MP:0005380	10.13	BBS4 CC2D2A MKS1 NPHP3 RPGRIP1L TMEM67
13	limbs/digits/tail	MP:0005371	10.11	BBS1 BBS2 CC2D2A MKS1 RPGRIP1L SDCCAG8
14	hearing/vestibular/ear	MP:0005377	10.04	ALMS1 BBS1 BBS4 CC2D2A MKS1 RPGRIP1L
15	liver/biliary system	MP:0005370	9.98	ALMS1 BBS2 BBS4 CEP290 MKS1 RPGRIP1L
16	reproductive system	MP:0005389	9.86	ALMS1 BBS1 BBS2 BBS4 CEP290 MKS1
17	respiratory system	MP:0005388	9.7	BBS1 BBS4 CC2D2A CEP290 MKS1 RPGRIP1L
18	vision/eye	MP:0005391	9.44	AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
19	taste/olfaction	MP:0005394	9.26	BBS1 BBS2 BBS4 CEP290

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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:

⁴¹

Heart

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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. ⁸ ⁷¹	Xing DJ...Jin ZB	24608809	2014
2	Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. ⁸ ⁷¹	Leitch CC...Katsanis N	18327255	2008
3	Bardet-Biedl Syndrome ³⁸ ⁷¹	Forsythe E...Beales PL	20301537	2003
4	Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. ⁷¹	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. ³⁸	Nikkhah E...Golchin N	29633607	2018
6	Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. ³⁸	Aliferis K...Dollfus H	22004009	2012
7	Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. ³⁸	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. ³⁸	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 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	1336.73	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	24608809 18327255 20301537
2	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	17.07	DISEASES inferred ¹⁵
3	CCDC28B	Coiled-Coil Domain Containing 28B	Protein Coding	16.81	DISEASES inferred ¹⁵
4	WDPCP	WD Repeat Containing Planar Cell Polarity Effector	Protein Coding	16.8	DISEASES inferred ¹⁵
5	BBS12	Bardet-Biedl Syndrome 12	Protein Coding	16.77	DISEASES inferred ¹⁵
6	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	16.33	DISEASES inferred ¹⁵
7	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	16.28	DISEASES inferred ¹⁵
8	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	16.07	DISEASES inferred ¹⁵
9	SDCCAG8	Serologically Defined Colon Cancer Antigen 8	Protein Coding	15.92	DISEASES inferred ¹⁵
10	NPHP3	Nephrocystin 3	Protein Coding	15.82	DISEASES inferred ¹⁵
11	TMEM67	Transmembrane Protein 67	Protein Coding	15.8	DISEASES inferred ¹⁵
12	BBS10	Bardet-Biedl Syndrome 10	Protein Coding	15.66	DISEASES inferred ¹⁵
13	TRIM32	Tripartite Motif Containing 32	Protein Coding	15.62	DISEASES inferred ¹⁵
14	AHI1	Abelson Helper Integration Site 1	Protein Coding	15.4	DISEASES inferred ¹⁵
15	RPGRIP1L	RPGRIP1 Like	Protein Coding	15.39	DISEASES inferred ¹⁵
16	CEP290	Centrosomal Protein 290	Protein Coding	15.16	DISEASES inferred ¹⁵
17	ALMS1	ALMS1 Centrosome And Basal Body Associated Protein	Protein Coding	15.09	DISEASES inferred ¹⁵
18	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	14.8	DISEASES inferred ¹⁵
19	LOC105371841	Uncharacterized LOC105371841	RNA Gene	8.75	GeneCards inferred via : Variants (show sections)

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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 53)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	MKS1	NM_017777.3(MKS1): c.1112_1114del (p.Phe371del)	deletion	Pathogenic	rs587777804	17:56285517-56285519	17:58208156-58208158
2	MKS1	NM_017777.3(MKS1): c.1115_1117del (p.Ser372del)	deletion	Pathogenic/Likely pathogenic	rs754279998	17:56285514-56285516	17:58208153-58208155
3	MKS1	NM_017777.3(MKS1): c.829G> T (p.Glu277Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs1555599412	17:56290372-56290372	17:58213011-58213011
4	MKS1	NM_017777.3(MKS1): c.515+1G> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs201933838	17:56292101-56292101	17:58214740-58214740
5	MKS1	NM_017777.3(MKS1): c.1025-2A> C	single nucleotide variant	Pathogenic/Likely pathogenic	rs794727070	17:56285946-56285946	17:58208585-58208585
6	MKS1	NM_017777.3(MKS1): c.844C> T (p.Arg282Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs797045706	17:56290357-56290357	17:58212996-58212996
7	MKS1	NM_017777.3(MKS1): c.508C> T (p.Arg170Ter)	single nucleotide variant	Likely pathogenic	rs756853299	17:56292109-56292109	17:58214748-58214748
8	MKS1	NM_017777.3(MKS1): c.51_55dup (p.Asp19fs)	duplication	Likely pathogenic	rs386834051	17:56296537-56296541	17:58219176-58219180
9	MKS1	NM_017777.3(MKS1): c.1434_1462del (p.Arg479fs)	deletion	Likely pathogenic	rs1555596845	17:56283853-56283882	17:58206493-58206521
10	MKS1	NM_017777.3(MKS1): c.1408-2A> G	single nucleotide variant	Likely pathogenic	rs1555596943	17:56283910-56283910	17:58206549-58206549
11	MKS1	NM_017777.3(MKS1): c.80+2T> C	single nucleotide variant	Likely pathogenic	rs386834052	17:56296510-56296510	17:58219149-58219149
12	MKS1	NM_017777.3(MKS1): c.1024+1G> A	single nucleotide variant	Likely pathogenic	rs199874059	17:56288019-56288019	17:58210658-58210658
13	MKS1	NM_017777.3(MKS1): c.1A> G (p.Met1Val)	single nucleotide variant	Likely pathogenic	rs1555601787	17:56296591-56296591	17:58219230-58219230
14	MKS1	NM_017777.3(MKS1): c.858+1G> A	single nucleotide variant	Likely pathogenic	rs756102768	17:56290342-56290342	17:58212981-58212981
15	MKS1	NM_017777.3(MKS1): c.515+2T> G	single nucleotide variant	Likely pathogenic	rs1376664664	17:56292100-56292100	17:58214739-58214739
16	MKS1	NM_017777.3(MKS1): c.190+2T> C	single nucleotide variant	Likely pathogenic	rs375170572	17:56295979-56295979	17:58218618-58218618
17	MKS1	NM_017777.3(MKS1): c.1394del (p.Pro465fs)	deletion	Likely pathogenic	rs865870355	17:56284459-56284459	17:58207098-58207098
18	MKS1	NM_017777.3(MKS1): c.367dup (p.Arg123fs)	duplication	Likely pathogenic	rs775043799	17:56293499-56293499	17:58216138-58216138
19	MKS1	NM_017777.3(MKS1): c.1166-2A> G	single nucleotide variant	Likely pathogenic	rs1488635637	17:56285364-56285364	17:58208003-58208003
20	MKS1	NM_017777.3(MKS1): c.184_190del (p.Thr62fs)	deletion	Likely pathogenic	rs386834046	17:56295981-56295987	17:58218620-58218626
21	MKS1	NM_017777.3(MKS1): c.1063A> G (p.Thr355Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs745809472	17:56285906-56285906	17:58208545-58208545
22	MKS1	NM_017777.3(MKS1): c.80+14C> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs761061379	17:56296498-56296498	17:58219137-58219137
23	MKS1	NM_017777.3(MKS1): c.493C> T (p.Arg165Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs779953982	17:56292124-56292124	17:58214763-58214763
24	MKS1	NM_017777.3(MKS1): c.233T> G (p.Ile78Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs786204222	17:56294055-56294055	17:58216694-58216694
25	MKS1	NM_017777.3(MKS1): c.1408-34_1408-6del	deletion	Conflicting interpretations of pathogenicity	rs386834043	17:56283914-56283942	17:58206553-58206581
26	MKS1	NM_017777.3(MKS1): c.417G> A (p.Glu139=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs386834048	17:56293449-56293449	17:58216088-58216088
27	MKS1	NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137853105	17:56283840-56283840	17:58206479-58206479
28	MKS1	NM_017777.3(MKS1): c.1407+3_1407+5delinsAAT	indel	Uncertain significance	rs1555597194	17:56284440-56284443	17:58207080-58207082
29	MKS1	NM_017777.3(MKS1): c.-34_-12del	deletion	Uncertain significance	rs1244307754	17:56296602-56296625	17:58219242-58219264
30	MKS1	NM_017777.3(MKS1): c.1382A> G (p.Tyr461Cys)	single nucleotide variant	Uncertain significance	rs730882120	17:56284471-56284471	17:58207110-58207110
31	MKS1	NM_017777.3(MKS1): c.1601G> A (p.Arg534Gln)	single nucleotide variant	Uncertain significance	rs199910690	17:56283519-56283519	17:58206158-58206158
32	MKS1	NM_017777.3(MKS1): c.368G> A (p.Arg123Gln)	single nucleotide variant	Uncertain significance	rs202112856	17:56293498-56293498	17:58216137-58216137
33	MKS1	NM_017777.3(MKS1): c.544G> A (p.Val182Ile)	single nucleotide variant	Uncertain significance	rs200185068	17:56291720-56291720	17:58214359-58214359
34	MKS1	NM_017777.3(MKS1): c.823_825GAG[5] (p.Glu278dup)	short repeat	Uncertain significance	rs780100856	17:56290366-56290366	17:58213006-58213008
35	MKS1	NM_017777.3(MKS1): c.1614del (p.Met539fs)	deletion	Uncertain significance	rs1555596555	17:56283505-56283506	17:58206145-58206145
36	MKS1	NM_017777.3(MKS1): c.1531_1534del (p.Ser511fs)	deletion	Uncertain significance	rs1555596710	17:56283697-56283701	17:58206337-58206340
37	MKS1	NM_017777.3(MKS1): c.857A> G (p.Asp286Gly)	single nucleotide variant	Uncertain significance	rs151023718	17:56290344-56290344	17:58212983-58212983
38	MKS1	NM_017777.3(MKS1): c.1288_1314del (p.Thr430_Glu438del)	deletion	Uncertain significance	rs1555597302	17:56284538-56284565	17:58207178-58207204
39	MKS1	NM_017777.3(MKS1): c.1621G> T (p.Glu541Ter)	single nucleotide variant	Uncertain significance	rs1555596538	17:56283499-56283499	17:58206138-58206138
40	MKS1	NM_017777.3(MKS1): c.1497del (p.Phe499fs)	deletion	Uncertain significance	rs780161503	17:56283734-56283735	17:58206374-58206374
41	MKS1	NM_017777.3(MKS1): c.1600C> T (p.Arg534Ter)	single nucleotide variant	Uncertain significance	rs772719574	17:56283520-56283520	17:58206159-58206159
42	MKS1	NM_017777.3(MKS1): c.1331_1345del (p.Glu444_Phe449delinsVal)	deletion	Uncertain significance	rs1555597266	17:56284507-56284522	17:58207147-58207161
43	MKS1	NM_017777.3(MKS1): c.1268C> T (p.Thr423Ile)	single nucleotide variant	Uncertain significance	rs760184188	17:56285260-56285260	17:58207899-58207899
44	MKS1	NM_017777.3(MKS1): c.1076_1078CCA[1] (p.Thr360del)	short repeat	Uncertain significance	rs1555598065	17:56285887-56285890	17:58208527-58208529
45	MKS1	NM_017777.3(MKS1): c.1175C> T (p.Pro392Leu)	single nucleotide variant	Uncertain significance	rs763534380	17:56285353-56285353	17:58207992-58207992
46	MKS1	NM_017777.3(MKS1): c.1609C> T (p.Arg537Cys)	single nucleotide variant	Uncertain significance	rs35464956	17:56283511-56283511	17:58206150-58206150
47	MKS1	NM_017777.3(MKS1): c.118C> T (p.His40Tyr)	single nucleotide variant	Uncertain significance	rs199832333	17:56296053-56296053	17:58218692-58218692
48	MKS1	NM_017777.3(MKS1): c.110A> G (p.Asn37Ser)	single nucleotide variant	Uncertain significance	rs587779734	17:56296061-56296061	17:58218700-58218700
49	MKS1	NM_017777.3(MKS1): c.214G> A (p.Glu72Lys)	single nucleotide variant	Uncertain significance	rs753620277	17:56294074-56294074	17:58216713-58216713
50	MKS1	NM_017777.3(MKS1): c.1543C> T (p.Arg515Cys)	single nucleotide variant	Uncertain significance	rs775558298	17:56283689-56283689	17:58206328-58206328

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

⁷⁴

#	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.

Sources

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	Regulation of PLK1 Activity at G2/M Transition ⁶⁶ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁶ AURKA Activation by TPX2 ⁶⁶ Centrosome maturation ⁶⁶ G2/M Transition ⁶⁶ Interaction between PHLDA1 and AURKA ⁶⁶ Loss of Nlp from mitotic centrosomes ⁶⁶ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁶ Mitotic G2-G2/M phases ⁶⁶ Polo-like kinase mediated events ⁶⁶ Recruitment of mitotic centrosome proteins and complexes ⁶⁶ Recruitment of NuMA to mitotic centrosomes ⁶⁶	12.74	TMEM67 SDCCAG8 RPGRIP1L MKS1 CEP290 CC2D2A
2	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.23	TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP3 MKS1
3	Cargo trafficking to the periciliary membrane ⁶⁶ Show member pathways ARL13B-mediated ciliary trafficking of INPP5E ⁶⁶ BBSome-mediated cargo-targeting to cilium ⁶⁶ Trafficking of myristoylated proteins to the cilium ⁶⁶ VxPx cargo-targeting to cilium ⁶⁶	11.46	NPHP3 BBS4 BBS2 BBS12 BBS10 BBS1

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	ciliary basal body	GO:0036064	9.95	RPGRIP1L MKS1 CEP290 BBS4 BBS2 BBS1
2	centriole	GO:0005814	9.93	SDCCAG8 MKS1 CEP290 BBS4 ALMS1 AHI1
3	cilium	GO:0005929	9.83	WDPCP TTC21B TMEM67 RPGRIP1L NPHP3 MKS1
4	ciliary membrane	GO:0060170	9.8	TMEM67 BBS4 BBS2 BBS1
5	cell-cell junction	GO:0005911	9.75	SDCCAG8 RPGRIP1L AHI1
6	axoneme	GO:0005930	9.73	WDPCP RPGRIP1L BBS1
7	ciliary transition zone	GO:0035869	9.73	TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A BBS4
8	MKS complex	GO:0036038	9.72	TMEM67 MKS1 CEP290 CC2D2A AHI1
9	photoreceptor connecting cilium	GO:0032391	9.71	RPGRIP1L CEP290 BBS4
10	centriolar satellite	GO:0034451	9.69	SDCCAG8 CEP290 BBS4
11	BBSome	GO:0034464	9.65	BBS4 BBS2 BBS1
12	non-motile cilium	GO:0097730	9.57	BBS4 AHI1
13	cell projection	GO:0042995	9.5	WDPCP TTC21B TMEM67 RPGRIP1L NPHP3 MKS1
14	cytoplasm	GO:0005737	10.4	WDPCP TTC21B TRIM32 TMEM67 SDCCAG8 RPGRIP1L
15	cytosol	GO:0005829	10.33	TRIM32 SDCCAG8 RPGRIP1L NPHP3 MKS1 CEP290
16	centrosome	GO:0005813	10.07	TMEM67 SDCCAG8 RPGRIP1L MKS1 CEP290 CCDC28B
17	microtubule organizing center	GO:0005815	10.03	RPGRIP1L MKS1 CEP290 CCDC28B BBS4 BBS2
18	cytoskeleton	GO:0005856	10	WDPCP TTC21B TMEM67 SDCCAG8 RPGRIP1L MKS1

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

(show all 37)

#	Name	GO ID	Score	Top Affiliating Genes
1	visual perception	GO:0007601	9.84	BBS4 BBS2 BBS10 BBS1
2	G2/M transition of mitotic cell cycle	GO:0000086	9.83	SDCCAG8 CEP290 ALMS1
3	kidney development	GO:0001822	9.81	WDPCP RPGRIP1L NPHP3
4	photoreceptor cell maintenance	GO:0045494	9.8	NPHP3 BBS4 BBS2 BBS12 BBS10 BBS1
5	non-motile cilium assembly	GO:1905515	9.8	RPGRIP1L MKS1 CC2D2A BBS4 BBS2 BBS10
6	neural tube closure	GO:0001843	9.78	MKS1 CC2D2A BBS4
7	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.77	SDCCAG8 CEP290 ALMS1
8	ciliary basal body-plasma membrane docking	GO:0097711	9.76	TMEM67 SDCCAG8 RPGRIP1L MKS1 CEP290 CC2D2A
9	fat cell differentiation	GO:0045444	9.75	TRIM32 BBS4 BBS2
10	smoothened signaling pathway	GO:0007224	9.73	WDPCP TTC21B CC2D2A
11	camera-type eye development	GO:0043010	9.72	WDPCP RPGRIP1L CC2D2A
12	heart looping	GO:0001947	9.7	NPHP3 BBS4 AHI1
13	adult behavior	GO:0030534	9.67	BBS4 BBS2
14	Golgi to plasma membrane protein transport	GO:0043001	9.67	BBS2 BBS1
15	motile cilium assembly	GO:0044458	9.67	MKS1 CC2D2A
16	determination of left/right symmetry	GO:0007368	9.67	RPGRIP1L NPHP3 MKS1 CC2D2A
17	melanosome transport	GO:0032402	9.66	BBS4 BBS2
18	hindbrain development	GO:0030902	9.66	CEP290 AHI1
19	brain morphogenesis	GO:0048854	9.65	BBS4 BBS2
20	protein localization to organelle	GO:0033365	9.65	BBS4 BBS2
21	cell projection organization	GO:0030030	9.65	WDPCP TMEM67 MKS1 CEP290 CCDC28B CC2D2A
22	head development	GO:0060322	9.64	RPGRIP1L MKS1
23	chaperone-mediated protein complex assembly	GO:0051131	9.64	BBS12 BBS10
24	ventricular system development	GO:0021591	9.63	TTC21B BBS4
25	retina homeostasis	GO:0001895	9.63	BBS4 BBS10 BBS1
26	striatum development	GO:0021756	9.62	BBS4 BBS2
27	regulation of stress fiber assembly	GO:0051492	9.62	BBS4 ALMS1
28	embryonic brain development	GO:1990403	9.61	MKS1 CC2D2A
29	protein localization to cilium	GO:0061512	9.61	TTC21B BBS4 BBS1
30	response to leptin	GO:0044321	9.6	BBS4 BBS2
31	photoreceptor cell outer segment organization	GO:0035845	9.58	BBS4 AHI1
32	regulation of smoothened signaling pathway	GO:0008589	9.58	TTC21B RPGRIP1L MKS1
33	leptin-mediated signaling pathway	GO:0033210	9.57	BBS4 BBS2
34	regulation of cilium beat frequency involved in ciliary motility	GO:0060296	9.51	BBS4 BBS2
35	regulation of Wnt signaling pathway, planar cell polarity pathway	GO:2000095	9.49	NPHP3 MKS1
36	negative regulation of appetite by leptin-mediated signaling pathway	GO:0038108	9.48	BBS4 BBS2
37	cilium assembly	GO:0060271	9.4	WDPCP TMEM67 RPGRIP1L NPHP3 MKS1 CEP290

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	9.83	TRIM32 TMEM67 SDCCAG8 RPGRIP1L NPHP3 MKS1
2	RNA polymerase II repressing transcription factor binding	GO:0001103	8.92	BBS4 BBS2 BBS10 BBS1

Sources

Sources for Bardet-Biedl Syndrome 13

¹ BioSystems

² BitterDB

³ CDC

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⁴⁸ NCBI Bookshelf

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⁶⁸ SNOMED-CT

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⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Bardet-Biedl Syndrome 13 (BBS13)

Aliases & Classifications for Bardet-Biedl Syndrome 13

MalaCards integrated aliases for Bardet-Biedl Syndrome 13:

Characteristics:

OMIM:

HPO:

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Summaries for Bardet-Biedl Syndrome 13

Related Diseases for Bardet-Biedl Syndrome 13

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

Symptoms & Phenotypes for Bardet-Biedl Syndrome 13

Human phenotypes related to Bardet-Biedl Syndrome 13:

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

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