MCID: LRS010
MIFTS: 20

Larsen-Like Syndrome B3gat3 Type

Categories: Genetic diseases

Aliases & Classifications for Larsen-Like Syndrome B3gat3 Type

MalaCards integrated aliases for Larsen-Like Syndrome B3gat3 Type:

Name: Larsen-Like Syndrome B3gat3 Type 12 15
Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome 12
Larsen-Like Syndrome, B3gat3 Type 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080575

Summaries for Larsen-Like Syndrome B3gat3 Type

Disease Ontology : 12 A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has material basis in homozygous mutation in the B3GAT3 gene on chromosome 11q12.

MalaCards based summary : Larsen-Like Syndrome B3gat3 Type, also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome, is related to multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects and desbuquois dysplasia 1. An important gene associated with Larsen-Like Syndrome B3gat3 Type is B3GAT3 (Beta-1,3-Glucuronyltransferase 3), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include heart, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Larsen-Like Syndrome B3gat3 Type

Graphical network of the top 20 diseases related to Larsen-Like Syndrome B3gat3 Type:



Diseases related to Larsen-Like Syndrome B3gat3 Type

Symptoms & Phenotypes for Larsen-Like Syndrome B3gat3 Type

GenomeRNAi Phenotypes related to Larsen-Like Syndrome B3gat3 Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.5 AEBP1 B3GAT3 CHST14 GZMM XYLT1 XYLT2
2 Decreased viability GR00381-A-1 9.5 PES1 SLC39A13 TRIM8
3 Decreased viability GR00386-A-1 9.5 B4GALT7 CHST14 MAF PES1
4 Decreased viability GR00402-S-2 9.5 PES1 TRIM8

MGI Mouse Phenotypes related to Larsen-Like Syndrome B3gat3 Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.17 AEBP1 CHST14 DSE GRIN2A MAF MRTFA

Drugs & Therapeutics for Larsen-Like Syndrome B3gat3 Type

Search Clinical Trials , NIH Clinical Center for Larsen-Like Syndrome B3gat3 Type

Genetic Tests for Larsen-Like Syndrome B3gat3 Type

Anatomical Context for Larsen-Like Syndrome B3gat3 Type

MalaCards organs/tissues related to Larsen-Like Syndrome B3gat3 Type:

40
Heart

Publications for Larsen-Like Syndrome B3gat3 Type

Articles related to Larsen-Like Syndrome B3gat3 Type:

# Title Authors PMID Year
1
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. 61
21763480 2011

Variations for Larsen-Like Syndrome B3gat3 Type

Expression for Larsen-Like Syndrome B3gat3 Type

Search GEO for disease gene expression data for Larsen-Like Syndrome B3gat3 Type.

Pathways for Larsen-Like Syndrome B3gat3 Type

Pathways related to Larsen-Like Syndrome B3gat3 Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 XYLT2 XYLT1 DSE CHST14 B4GALT7 B3GAT3
2
Show member pathways
12.01 XYLT2 XYLT1 DSE CHST14 B4GALT7 B3GAT3
3
Show member pathways
10.85 XYLT2 XYLT1 B4GALT7 B3GAT3 B3GALT6

GO Terms for Larsen-Like Syndrome B3gat3 Type

Cellular components related to Larsen-Like Syndrome B3gat3 Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.13 XYLT2 XYLT1 SORCS1 SLC39A13 PES1 GZMM
2 integral component of membrane GO:0016021 10 XYLT2 XYLT1 SORCS1 SLC39A13 GRIN2A DSE
3 Golgi membrane GO:0000139 9.56 XYLT2 XYLT1 SLC39A13 DSE CHST14 B4GALT7
4 Golgi cisterna membrane GO:0032580 9.33 CANT1 B4GALT7 B3GALT6
5 Golgi apparatus GO:0005794 9.32 XYLT2 XYLT1 SORCS1 SLC39A13 DSE CHST14

Biological processes related to Larsen-Like Syndrome B3gat3 Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.61 B4GALT7 B3GAT3 B3GALT6
2 chondroitin sulfate biosynthetic process GO:0030206 9.56 XYLT2 XYLT1 DSE B3GALT6
3 glycosaminoglycan biosynthetic process GO:0006024 9.55 XYLT2 XYLT1 B4GALT7 B3GAT3 B3GALT6
4 proteoglycan biosynthetic process GO:0030166 9.54 XYLT2 XYLT1 CANT1
5 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.5 XYLT2 XYLT1 B3GAT3
6 dermatan sulfate biosynthetic process GO:0030208 9.4 DSE CHST14
7 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.35 XYLT2 XYLT1 DSE B3GAT3 B3GALT6
8 glycosaminoglycan metabolic process GO:0030203 9.02 XYLT2 XYLT1 B4GALT7 B3GAT3 B3GALT6

Molecular functions related to Larsen-Like Syndrome B3gat3 Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.8 XYLT2 XYLT1 TRIM8 CHST14 B4GALT7 B3GAT3
2 transferase activity, transferring glycosyl groups GO:0016757 9.46 XYLT2 XYLT1 B4GALT7 B3GALT6
3 galactosyltransferase activity GO:0008378 9.32 B4GALT7 B3GALT6
4 acetylglucosaminyltransferase activity GO:0008375 9.13 XYLT2 XYLT1 B3GALT6
5 protein xylosyltransferase activity GO:0030158 8.62 XYLT2 XYLT1

Sources for Larsen-Like Syndrome B3gat3 Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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