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

BBS13 MCID: BRD033 MIFTS: 42	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 Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Bardet-Biedl Syndrome 13

MalaCards integrated aliases for Bardet-Biedl Syndrome 13:

Name: Bardet-Biedl Syndrome 13 ⁵⁸ ¹² ⁷⁶ ³⁰ ⁶ ¹⁵ ⁷⁴

Bbs13 ⁵⁸ ¹² ⁷⁶

Bardet-Biedl Syndrome, Type 13 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

bardet-biedl syndrome 13:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110135

OMIM ⁵⁸ 615990

MeSH ⁴⁵ D020788

ICD10 ³⁴ Q87.89

MedGen ⁴³ C2673873

SNOMED-CT via HPO ⁷⁰ 224958001 228156007 247578003 more

UMLS ⁷⁴ C2673873

Sources

Summaries for Bardet-Biedl Syndrome 13

UniProtKB/Swiss-Prot : ⁷⁶ 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 : ⁵⁸ 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)

Sources

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	10.4	BBS12 WDPCP
2	meckel syndrome, type 7	10.3	MKS1 NPHP3
3	polydactyly, postaxial, type a1	10.3	BBS12 CC2D2A
4	joubert syndrome with ocular anomalies	10.3	AHI1 MKS1
5	nephronophthisis 1	10.3	AHI1 NPHP3
6	meckel syndrome, type 2	10.3	MKS1 TMEM67
7	bardet-biedl syndrome 11	10.2	BBS12 TRIM32
8	nonsyndromic retinitis pigmentosa	10.2	BBS1 BBS2
9	meckel syndrome, type 4	10.1	CEP290 MKS1
10	nephronophthisis 7	10.1	BBS1 TRIM32
11	joubert syndrome 17	10.1	CEP290 WDPCP
12	infantile nephronophthisis	10.1	NPHP3 TTC21B
13	joubert syndrome with oculorenal anomalies	10.1	CC2D2A CEP290
14	bardet-biedl syndrome 3	10.1	BBS1 BBS2 BBS4
15	bardet-biedl syndrome 18	10.1	BBS1 BBS2 BBS4
16	bardet-biedl syndrome 4	10.1	BBS1 BBS2 BBS4
17	bardet-biedl syndrome 17	10.1	BBS1 BBS2 BBS4
18	bardet-biedl syndrome 19	10.0	BBS10 BBS2
19	congenital hepatic fibrosis	10.0	CC2D2A RPGRIP1L TMEM67
20	coach syndrome	10.0	CC2D2A RPGRIP1L TMEM67
21	cystic kidney disease	10.0	CC2D2A NPHP3 TMEM67
22	retinal aplasia	10.0	CEP290 SDCCAG8
23	nephronophthisis 2	10.0	MKS1 NPHP3
24	mckusick-kaufman syndrome	9.9	BBS1 BBS12 BBS2 BBS4
25	bardet-biedl syndrome 6	9.9	BBS1 BBS10 BBS2 BBS4
26	bardet-biedl syndrome 8	9.9	BBS1 BBS10 BBS2 BBS4
27	nephronophthisis 16	9.9	CEP290 SDCCAG8
28	encephalocele	9.8	CC2D2A CEP290 MKS1 TMEM67
29	bardet-biedl syndrome 1	9.8	BBS1 BBS10 BBS2 BBS4 CCDC28B
30	bardet-biedl syndrome 16	9.8	ALMS1 BBS1 CCDC28B SDCCAG8
31	joubert syndrome 6	9.7	AHI1 CEP290 MKS1 TMEM67
32	alstrom syndrome	9.7	ALMS1 BBS1 BBS2
33	hydrolethalus syndrome 1	9.6	AHI1 BBS2 BBS4 MKS1 TMEM67
34	polydactyly	9.6	BBS1 BBS10 BBS2 BBS4 MKS1 TTC21B
35	pathologic nystagmus	9.6	CCDC28B CEP290 MKS1 TMEM67 TTC21B WDPCP
36	meckel syndrome, type 3	9.6	CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
37	meckel syndrome, type 6	9.5	AHI1 CC2D2A MKS1 RPGRIP1L TMEM67 WDPCP
38	bardet-biedl syndrome 14	9.4	BBS1 BBS10 BBS12 BBS2 CEP290 TMEM67
39	leber congenital amaurosis	9.3	AHI1 ALMS1 CEP290 NPHP3
40	bardet-biedl syndrome 15	9.3	BBS2 BBS4 CC2D2A NPHP3 RPGRIP1L TMEM67
41	senior-loken syndrome 1	9.1	AHI1 CC2D2A CEP290 MKS1 NPHP3 SDCCAG8
42	nephronophthisis 11	9.1	AHI1 CC2D2A CEP290 NPHP3 RPGRIP1L SDCCAG8
43	joubert syndrome 1	8.8	AHI1 CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L
44	nephronophthisis	8.8	AHI1 CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L
45	meckel syndrome, type 1	8.6	AHI1 BBS1 BBS4 CC2D2A CEP290 LOC105371841
46	fundus dystrophy	8.5	AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
47	retinitis pigmentosa	8.3	AHI1 BBS1 BBS10 BBS12 BBS2 BBS4
48	bardet-biedl syndrome	7.9	BBS1 BBS10 BBS12 BBS2 BBS4 CCDC28B

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

Sources

Symptoms & Phenotypes for Bardet-Biedl Syndrome 13

Human phenotypes related to Bardet-Biedl Syndrome 13:

³³

#	Description	HPO Source Accession
1	obesity ³³	HP:0001513
2	intellectual disability ³³	HP:0001249
3	global developmental delay ³³	HP:0001263
4	rod-cone dystrophy ³³	HP:0000510
5	polydactyly ³³	HP:0010442

Symptoms via clinical synopsis from OMIM:

⁵⁸

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:

⁴⁷ (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

Sources

Drugs & Therapeutics for Bardet-Biedl Syndrome 13

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

Sources

Genetic Tests for Bardet-Biedl Syndrome 13

Genetic tests related to Bardet-Biedl Syndrome 13:

#	Genetic test	Affiliating Genes
1	Bardet-Biedl Syndrome 13 ³⁰	MKS1

Sources

Anatomical Context for Bardet-Biedl Syndrome 13

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

⁴²

Heart

Sources

Publications for Bardet-Biedl Syndrome 13

Sources

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	1336.77	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	18327255 20301537 24608809 (more) 21368913 20301500
2	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	17.08	DISEASES inferred ¹⁵
3	WDPCP	WD Repeat Containing Planar Cell Polarity Effector	Protein Coding	16.93	DISEASES inferred ¹⁵
4	CCDC28B	Coiled-Coil Domain Containing 28B	Protein Coding	16.81	DISEASES inferred ¹⁵
5	BBS12	Bardet-Biedl Syndrome 12	Protein Coding	16.78	DISEASES inferred ¹⁵
6	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	16.35	DISEASES inferred ¹⁵
7	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	16.34	DISEASES inferred ¹⁵
8	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	16.14	DISEASES inferred ¹⁵
9	SDCCAG8	Serologically Defined Colon Cancer Antigen 8	Protein Coding	15.96	DISEASES inferred ¹⁵
10	NPHP3	Nephrocystin 3	Protein Coding	15.85	DISEASES inferred ¹⁵
11	TMEM67	Transmembrane Protein 67	Protein Coding	15.83	DISEASES inferred ¹⁵
12	BBS10	Bardet-Biedl Syndrome 10	Protein Coding	15.68	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	15.44	DISEASES inferred ¹⁵
15	RPGRIP1L	RPGRIP1 Like	Protein Coding	15.42	DISEASES inferred ¹⁵
16	CEP290	Centrosomal Protein 290	Protein Coding	15.21	DISEASES inferred ¹⁵
17	ALMS1	ALMS1 Centrosome And Basal Body Associated Protein	Protein Coding	15.08	DISEASES inferred ¹⁵
18	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	14.58	DISEASES inferred ¹⁵
19	LOC105371841	Uncharacterized LOC105371841	RNA Gene	8.71	GeneCards inferred via : Variants (show sections)

Sources

Variations for Bardet-Biedl Syndrome 13

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

⁷⁶

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

ClinVar genetic disease variations for Bardet-Biedl Syndrome 13:

⁶ (show top 50) (show all 100)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MKS1	NM_017777.3(MKS1): c.1382A> G (p.Tyr461Cys)	single nucleotide variant	Uncertain significance	rs730882120	GRCh38	Chromosome 17, 58207110: 58207110
2	MKS1	NM_017777.3(MKS1): c.1382A> G (p.Tyr461Cys)	single nucleotide variant	Uncertain significance	rs730882120	GRCh37	Chromosome 17, 56284471: 56284471
3	MKS1	NM_017777.3(MKS1): c.1601G> A (p.Arg534Gln)	single nucleotide variant	Uncertain significance	rs199910690	GRCh38	Chromosome 17, 58206158: 58206158
4	MKS1	NM_017777.3(MKS1): c.1601G> A (p.Arg534Gln)	single nucleotide variant	Uncertain significance	rs199910690	GRCh37	Chromosome 17, 56283519: 56283519
5	MKS1	NM_017777.3(MKS1): c.1408-34_1408-6del29	deletion	Conflicting interpretations of pathogenicity	rs386834043	GRCh37	Chromosome 17, 56283914: 56283942
6	MKS1	NM_017777.3(MKS1): c.1408-34_1408-6del29	deletion	Conflicting interpretations of pathogenicity	rs386834043	GRCh38	Chromosome 17, 58206553: 58206581
7	MKS1	NM_017777.3(MKS1): c.233T> G (p.Ile78Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs786204222	GRCh37	Chromosome 17, 56294055: 56294055
8	MKS1	NM_017777.3(MKS1): c.233T> G (p.Ile78Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs786204222	GRCh38	Chromosome 17, 58216694: 58216694
9	MKS1	NM_017777.3(MKS1): c.1025-2A> C	single nucleotide variant	Pathogenic/Likely pathogenic	rs794727070	GRCh37	Chromosome 17, 56285946: 56285946
10	MKS1	NM_017777.3(MKS1): c.1025-2A> C	single nucleotide variant	Pathogenic/Likely pathogenic	rs794727070	GRCh38	Chromosome 17, 58208585: 58208585
11	MKS1	NM_017777.3(MKS1): c.844C> T (p.Arg282Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs797045706	GRCh37	Chromosome 17, 56290357: 56290357
12	MKS1	NM_017777.3(MKS1): c.844C> T (p.Arg282Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs797045706	GRCh38	Chromosome 17, 58212996: 58212996
13	MKS1	NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del)	deletion	Pathogenic/Likely pathogenic	rs754279998	GRCh37	Chromosome 17, 56285514: 56285516
14	MKS1	NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del)	deletion	Pathogenic/Likely pathogenic	rs754279998	GRCh38	Chromosome 17, 58208153: 58208155
15	MKS1	NM_017777.3(MKS1): c.493C> T (p.Arg165Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs779953982	GRCh37	Chromosome 17, 56292124: 56292124
16	MKS1	NM_017777.3(MKS1): c.493C> T (p.Arg165Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs779953982	GRCh38	Chromosome 17, 58214763: 58214763
17	MKS1	NM_017777.3(MKS1): c.1609C> T (p.Arg537Cys)	single nucleotide variant	Uncertain significance	rs35464956	GRCh37	Chromosome 17, 56283511: 56283511
18	MKS1	NM_017777.3(MKS1): c.1609C> T (p.Arg537Cys)	single nucleotide variant	Uncertain significance	rs35464956	GRCh38	Chromosome 17, 58206150: 58206150
19	MKS1	NM_017777.3(MKS1): c.1175C> T (p.Pro392Leu)	single nucleotide variant	Uncertain significance	rs763534380	GRCh38	Chromosome 17, 58207992: 58207992
20	MKS1	NM_017777.3(MKS1): c.1175C> T (p.Pro392Leu)	single nucleotide variant	Uncertain significance	rs763534380	GRCh37	Chromosome 17, 56285353: 56285353
21	MKS1	NM_017777.3(MKS1): c.80+2T> C	single nucleotide variant	Likely pathogenic	rs386834052	GRCh37	Chromosome 17, 56296510: 56296510
22	MKS1	NM_017777.3(MKS1): c.80+2T> C	single nucleotide variant	Likely pathogenic	rs386834052	GRCh38	Chromosome 17, 58219149: 58219149
23	MKS1	NM_017777.3(MKS1): c.1024+1G> A	single nucleotide variant	Likely pathogenic	rs199874059	GRCh37	Chromosome 17, 56288019: 56288019
24	MKS1	NM_017777.3(MKS1): c.1024+1G> A	single nucleotide variant	Likely pathogenic	rs199874059	GRCh38	Chromosome 17, 58210658: 58210658
25	MKS1	NM_017777.3(MKS1): c.417G> A (p.Glu139=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs386834048	GRCh37	Chromosome 17, 56293449: 56293449
26	MKS1	NM_017777.3(MKS1): c.417G> A (p.Glu139=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs386834048	GRCh38	Chromosome 17, 58216088: 58216088
27	MKS1	NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137853105	GRCh37	Chromosome 17, 56283840: 56283840
28	MKS1	NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs137853105	GRCh38	Chromosome 17, 58206479: 58206479
29	MKS1	NM_017777.3(MKS1): c.1112_1114delTCT (p.Phe371del)	deletion	Pathogenic	rs587777804	GRCh38	Chromosome 17, 58208156: 58208158
30	MKS1	NM_017777.3(MKS1): c.1112_1114delTCT (p.Phe371del)	deletion	Pathogenic	rs587777804	GRCh37	Chromosome 17, 56285517: 56285519
31	MKS1	NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs)	deletion	Likely pathogenic	rs386834046	GRCh37	Chromosome 17, 56295981: 56295987
32	MKS1	NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs)	deletion	Likely pathogenic	rs386834046	GRCh38	Chromosome 17, 58218620: 58218626
33	MKS1	NM_017777.3(MKS1): c.515+1G> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs201933838	GRCh37	Chromosome 17, 56292101: 56292101
34	MKS1	NM_017777.3(MKS1): c.515+1G> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs201933838	GRCh38	Chromosome 17, 58214740: 58214740
35	MKS1	NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs)	duplication	Likely pathogenic	rs386834051	GRCh37	Chromosome 17, 56296537: 56296541
36	MKS1	NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs)	duplication	Likely pathogenic	rs386834051	GRCh38	Chromosome 17, 58219176: 58219180
37	MKS1	NM_017777.3(MKS1): c.110A> G (p.Asn37Ser)	single nucleotide variant	Uncertain significance	rs587779734	GRCh37	Chromosome 17, 56296061: 56296061
38	MKS1	NM_017777.3(MKS1): c.110A> G (p.Asn37Ser)	single nucleotide variant	Uncertain significance	rs587779734	GRCh38	Chromosome 17, 58218700: 58218700
39	MKS1	NM_017777.3(MKS1): c.508C> T (p.Arg170Ter)	single nucleotide variant	Likely pathogenic	rs756853299	GRCh37	Chromosome 17, 56292109: 56292109
40	MKS1	NM_017777.3(MKS1): c.508C> T (p.Arg170Ter)	single nucleotide variant	Likely pathogenic	rs756853299	GRCh38	Chromosome 17, 58214748: 58214748
41	MKS1	NM_017777.3(MKS1): c.1600C> A (p.Arg534=)	single nucleotide variant	Likely benign	rs772719574	GRCh37	Chromosome 17, 56283520: 56283520
42	MKS1	NM_017777.3(MKS1): c.1600C> A (p.Arg534=)	single nucleotide variant	Likely benign	rs772719574	GRCh38	Chromosome 17, 58206159: 58206159
43	MKS1	NM_017777.3(MKS1): c.1588+12C> G	single nucleotide variant	Likely benign	rs762501967	GRCh37	Chromosome 17, 56283632: 56283632
44	MKS1	NM_017777.3(MKS1): c.1588+12C> G	single nucleotide variant	Likely benign	rs762501967	GRCh38	Chromosome 17, 58206271: 58206271
45	MKS1	NM_017777.3(MKS1): c.1063A> G (p.Thr355Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs745809472	GRCh37	Chromosome 17, 56285906: 56285906
46	MKS1	NM_017777.3(MKS1): c.1063A> G (p.Thr355Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs745809472	GRCh38	Chromosome 17, 58208545: 58208545
47	MKS1	NM_017777.3(MKS1): c.771G> A (p.Lys257=)	single nucleotide variant	Likely benign	rs886038632	GRCh37	Chromosome 17, 56290430: 56290430
48	MKS1	NM_017777.3(MKS1): c.771G> A (p.Lys257=)	single nucleotide variant	Likely benign	rs886038632	GRCh38	Chromosome 17, 58213069: 58213069
49	MKS1	NM_017777.3(MKS1): c.80+14C> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs761061379	GRCh38	Chromosome 17, 58219137: 58219137
50	MKS1	NM_017777.3(MKS1): c.80+14C> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs761061379	GRCh37	Chromosome 17, 56296498: 56296498

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 ⁶⁷ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁷ AURKA Activation by TPX2 ⁶⁷ Centrosome maturation ⁶⁷ G2/M Transition ⁶⁷ Interaction between PHLDA1 and AURKA ⁶⁷ Loss of Nlp from mitotic centrosomes ⁶⁷ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁷ Mitotic G2-G2/M phases ⁶⁷ Polo-like kinase mediated events ⁶⁷ Recruitment of mitotic centrosome proteins and complexes ⁶⁷ Recruitment of NuMA to mitotic centrosomes ⁶⁷	12.74	AHI1 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L
2	Organelle biogenesis and maintenance ⁶⁷ Show member pathways Cilium Assembly ⁶⁷	12.23	AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
3	Cargo trafficking to the periciliary membrane ⁶⁷ Show member pathways ARL13B-mediated ciliary trafficking of INPP5E ⁶⁷ BBSome-mediated cargo-targeting to cilium ⁶⁷ Trafficking of myristoylated proteins to the cilium ⁶⁷ VxPx cargo-targeting to cilium ⁶⁷	11.46	BBS1 BBS10 BBS12 BBS2 BBS4 NPHP3

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	AHI1 BBS1 BBS2 BBS4 CEP290 MKS1
2	centriole	GO:0005814	9.93	AHI1 ALMS1 BBS4 CEP290 MKS1 SDCCAG8
3	cell projection	GO:0042995	9.83	AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
4	ciliary membrane	GO:0060170	9.8	BBS1 BBS2 BBS4 TMEM67
5	cell-cell junction	GO:0005911	9.75	AHI1 RPGRIP1L SDCCAG8
6	axoneme	GO:0005930	9.73	BBS1 RPGRIP1L WDPCP
7	ciliary transition zone	GO:0035869	9.73	BBS4 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
8	MKS complex	GO:0036038	9.72	AHI1 CC2D2A CEP290 MKS1 TMEM67
9	photoreceptor connecting cilium	GO:0032391	9.71	BBS4 CEP290 RPGRIP1L
10	centriolar satellite	GO:0034451	9.69	BBS4 CEP290 SDCCAG8
11	BBSome	GO:0034464	9.65	BBS1 BBS2 BBS4
12	non-motile cilium	GO:0097730	9.57	AHI1 BBS4
13	cilium	GO:0005929	9.5	AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
14	cytoplasm	GO:0005737	10.4	AHI1 ALMS1 BBS1 BBS2 BBS4 CC2D2A
15	cytosol	GO:0005829	10.33	AHI1 ALMS1 BBS1 BBS2 BBS4 CC2D2A
16	centrosome	GO:0005813	10.07	AHI1 ALMS1 BBS1 BBS4 CCDC28B CEP290
17	microtubule organizing center	GO:0005815	10.03	ALMS1 BBS1 BBS2 BBS4 CCDC28B CEP290
18	cytoskeleton	GO:0005856	10	AHI1 ALMS1 BBS1 BBS2 BBS4 CC2D2A

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	BBS1 BBS10 BBS2 BBS4
2	G2/M transition of mitotic cell cycle	GO:0000086	9.83	ALMS1 CEP290 SDCCAG8
3	kidney development	GO:0001822	9.81	NPHP3 RPGRIP1L WDPCP
4	photoreceptor cell maintenance	GO:0045494	9.8	BBS1 BBS10 BBS12 BBS2 BBS4 NPHP3
5	non-motile cilium assembly	GO:1905515	9.8	BBS1 BBS10 BBS2 BBS4 CC2D2A MKS1
6	neural tube closure	GO:0001843	9.77	BBS4 CC2D2A MKS1
7	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.77	ALMS1 CEP290 SDCCAG8
8	ciliary basal body-plasma membrane docking	GO:0097711	9.76	AHI1 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L
9	fat cell differentiation	GO:0045444	9.75	BBS2 BBS4 TRIM32
10	camera-type eye development	GO:0043010	9.73	CC2D2A RPGRIP1L WDPCP
11	cilium assembly	GO:0060271	9.73	AHI1 BBS1 BBS2 BBS4 CC2D2A CCDC28B
12	smoothened signaling pathway	GO:0007224	9.72	CC2D2A TTC21B WDPCP
13	heart looping	GO:0001947	9.7	AHI1 BBS4 NPHP3
14	adult behavior	GO:0030534	9.67	BBS2 BBS4
15	Golgi to plasma membrane protein transport	GO:0043001	9.67	BBS1 BBS2
16	motile cilium assembly	GO:0044458	9.67	CC2D2A MKS1
17	determination of left/right symmetry	GO:0007368	9.67	CC2D2A MKS1 NPHP3 RPGRIP1L
18	brain morphogenesis	GO:0048854	9.66	BBS2 BBS4
19	hindbrain development	GO:0030902	9.66	AHI1 CEP290
20	melanosome transport	GO:0032402	9.65	BBS2 BBS4
21	protein localization to organelle	GO:0033365	9.65	BBS2 BBS4
22	chaperone-mediated protein complex assembly	GO:0051131	9.64	BBS10 BBS12
23	head development	GO:0060322	9.64	MKS1 RPGRIP1L
24	regulation of stress fiber assembly	GO:0051492	9.63	ALMS1 BBS4
25	retina homeostasis	GO:0001895	9.63	BBS1 BBS10 BBS4
26	striatum development	GO:0021756	9.62	BBS2 BBS4
27	ventricular system development	GO:0021591	9.62	BBS4 TTC21B
28	embryonic brain development	GO:1990403	9.61	CC2D2A MKS1
29	response to leptin	GO:0044321	9.61	BBS2 BBS4
30	protein localization to cilium	GO:0061512	9.61	BBS1 BBS4 TTC21B
31	photoreceptor cell outer segment organization	GO:0035845	9.58	AHI1 BBS4
32	regulation of smoothened signaling pathway	GO:0008589	9.58	MKS1 RPGRIP1L TTC21B
33	leptin-mediated signaling pathway	GO:0033210	9.57	BBS2 BBS4
34	regulation of cilium beat frequency involved in ciliary motility	GO:0060296	9.51	BBS2 BBS4
35	negative regulation of appetite by leptin-mediated signaling pathway	GO:0038108	9.49	BBS2 BBS4
36	regulation of Wnt signaling pathway, planar cell polarity pathway	GO:2000095	9.48	MKS1 NPHP3
37	cell projection organization	GO:0030030	9.32	AHI1 BBS1 BBS2 BBS4 CC2D2A CCDC28B

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	AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
2	RNA polymerase II repressing transcription factor binding	GO:0001103	8.92	BBS1 BBS10 BBS2 BBS4

Sources

Sources for Bardet-Biedl Syndrome 13

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Bardet-Biedl Syndrome 13 (BBS13)

Aliases & Classifications for Bardet-Biedl Syndrome 13

MalaCards integrated aliases for Bardet-Biedl Syndrome 13:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Bardet-Biedl Syndrome 13

Related Diseases for Bardet-Biedl Syndrome 13

Diseases in the Bardet-Biedl Syndrome family:

Diseases related to Bardet-Biedl Syndrome 13 via text searches within MalaCards or GeneCards Suite gene sharing:

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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 13:

Drugs & Therapeutics for Bardet-Biedl Syndrome 13

Genetic Tests for Bardet-Biedl Syndrome 13

Genetic tests related to Bardet-Biedl Syndrome 13:

Anatomical Context for Bardet-Biedl Syndrome 13

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

Publications for Bardet-Biedl Syndrome 13

Genes for Bardet-Biedl Syndrome 13

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

Variations for Bardet-Biedl Syndrome 13

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

ClinVar 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