Larsen-Like Syndrome B3gat3 Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080575

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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

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Related Diseases for Larsen-Like Syndrome B3gat3 Type

Diseases related to Larsen-Like Syndrome B3gat3 Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)

#	Related Disease	Score	Top Affiliating Genes
1	multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects	33.2	B4GALT7 B3GAT3
2	desbuquois dysplasia 1	10.2	XYLT1 CANT1
3	musculocontractural ehlers-danlos syndrome	10.1	DSE CHST14
4	type i ehlers-danlos syndrome	10.1	DSE CHST14
5	ehlers-danlos syndrome progeroid type	10.0	GZMM B4GALT7 B3GAT3 B3GALT6
6	brittle cornea syndrome 2	10.0	SLC39A13 CHST14 B4GALT7
7	temtamy preaxial brachydactyly syndrome	9.9	XYLT1 B4GALT7 B3GAT3 B3GALT6
8	enophthalmos	9.9	SLC39A13 PES1
9	angioid streaks	9.9	XYLT2 XYLT1
10	ciliary dyskinesia, primary, 8	9.8	TRIM8 MAF
11	collagen disease	9.8	SLC39A13 CHST14 B4GALT7 B3GALT6
12	ciliary dyskinesia, primary, 4	9.8	TRIM8 MAF
13	pica disease	9.7	PES1 MAF
14	chondrodysplasia-pseudohermaphroditism syndrome	9.7	TRIM8 MAF
15	radioulnar synostosis	9.7	PES1 B4GALT7 B3GAT3 B3GALT6
16	orbital disease	9.6	SLC39A13 PES1
17	desbuquois dysplasia	9.5	XYLT2 XYLT1 CANT1 B4GALT7 B3GAT3 B3GALT6
18	odontochondrodysplasia	9.4	XYLT1 PES1 CANT1 B4GALT7 B3GALT6
19	ehlers-danlos syndrome	9.4	SLC39A13 DSE CHST14 B4GALT7 B3GALT6 AEBP1
20	larsen syndrome	9.2	XYLT1 DSE CHST14 CANT1 B4GALT7 B3GAT3

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

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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

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Drugs & Therapeutics for Larsen-Like Syndrome B3gat3 Type

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

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Genetic Tests for Larsen-Like Syndrome B3gat3 Type

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Anatomical Context for Larsen-Like Syndrome B3gat3 Type

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

⁴⁰

Heart

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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	Baasanjav S...Hoffmann K	21763480	2011

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Genes for Larsen-Like Syndrome B3gat3 Type

Genes related to Larsen-Like Syndrome B3gat3 Type (0 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	B3GAT3	Beta-1,3-Glucuronyltransferase 3	Protein Coding	7.62	DISEASES inferred ¹⁵
2	GZMM	Granzyme M	Protein Coding	6.08	DISEASES inferred ¹⁵
3	B3GALT6	Beta-1,3-Galactosyltransferase 6	Protein Coding	5.98	DISEASES inferred ¹⁵
4	CANT1	Calcium Activated Nucleotidase 1	Protein Coding	5.84	DISEASES inferred ¹⁵
5	B4GALT7	Beta-1,4-Galactosyltransferase 7	Protein Coding	5.78	DISEASES inferred ¹⁵
6	SLC39A13	Solute Carrier Family 39 Member 13	Protein Coding	5.62	DISEASES inferred ¹⁵
7	DSE	Dermatan Sulfate Epimerase	Protein Coding	5.57	DISEASES inferred ¹⁵
8	AEBP1	AE Binding Protein 1	Protein Coding	5.55	DISEASES inferred ¹⁵
9	SORCS1	Sortilin Related VPS10 Domain Containing Receptor 1	Protein Coding	5.46	DISEASES inferred ¹⁵
10	XYLT1	Xylosyltransferase 1	Protein Coding	5.23	DISEASES inferred ¹⁵
11	XYLT2	Xylosyltransferase 2	Protein Coding	5.09	DISEASES inferred ¹⁵
12	CHST14	Carbohydrate Sulfotransferase 14	Protein Coding	5	DISEASES inferred ¹⁵
13	TRIM8	Tripartite Motif Containing 8	Protein Coding	4.88	DISEASES inferred ¹⁵
14	MRTFA	Myocardin Related Transcription Factor A	Protein Coding	4.66	DISEASES inferred ¹⁵
15	PES1	Pescadillo Ribosomal Biogenesis Factor 1	Protein Coding	4.3	DISEASES inferred ¹⁵
16	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	4.19	DISEASES inferred ¹⁵
17	MAF	MAF BZIP Transcription Factor	Protein Coding	3.8	DISEASES inferred ¹⁵

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Variations for Larsen-Like Syndrome B3gat3 Type

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Expression for Larsen-Like Syndrome B3gat3 Type

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

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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	Glycosaminoglycan metabolism ⁶⁵ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁵ HS-GAG biosynthesis ⁶⁵ Hyaluronan biosynthesis and export ⁶⁵ Hyaluronan metabolism ⁶⁵ Hyaluronan uptake and degradation ⁶⁵ Metabolism of carbohydrates ⁶⁵	12.45	XYLT2 XYLT1 DSE CHST14 B4GALT7 B3GAT3
2	Chondroitin sulfate/dermatan sulfate metabolism ⁶⁵ Show member pathways A tetrasaccharide linker sequence is required for GAG synthesis ⁶⁵ chondroitin biosynthesis ¹ Chondroitin sulfate biosynthesis ⁶⁵ CS/DS degradation ⁶⁵ Defective B3GALT6 causes EDSP2 and SEMDJL1 ⁶⁵ Defective B3GAT3 causes JDSSDHD ⁶⁵ Defective B4GALT7 causes EDS, progeroid type ⁶⁵ Defective CHST14 causes EDS, musculocontractural type ⁶⁵ Defective CHST3 causes SEDCJD ⁶⁵ Defective CHSY1 causes TPBS ⁶⁵ Defective EXT1 causes exostoses 1, TRPS2 and CHDS ⁶⁵ Defective EXT2 causes exostoses 2 ⁶⁵ dermatan sulfate biosynthesis ¹ Dermatan sulfate biosynthesis ⁶⁵ dermatan sulfate biosynthesis (late stages) ¹ Diseases associated with glycosaminoglycan metabolism ⁶⁵ glycoaminoglycan-protein linkage region biosynthesis ¹ Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate ³⁶ Glypican pathway ¹ HS-GAG degradation ⁶⁵ Proteogylcan syndecan-mediated signaling events ¹	12.01	XYLT2 XYLT1 DSE CHST14 B4GALT7 B3GAT3
3	heparan sulfate biosynthesis ¹ Show member pathways Glycosaminoglycan biosynthesis - heparan sulfate / heparin ³⁶ heparan sulfate biosynthesis (late stages) ¹	10.85	XYLT2 XYLT1 B4GALT7 B3GAT3 B3GALT6

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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

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