MCID: LRS010
MIFTS: 20
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Larsen-Like Syndrome B3gat3 Type
Categories:
Genetic diseases
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MalaCards integrated aliases for Larsen-Like Syndrome B3gat3 Type:
Classifications:External Ids:
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Disease Ontology :
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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 |
GenomeRNAi Phenotypes related to Larsen-Like Syndrome B3gat3 Type according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Larsen-Like Syndrome B3gat3 Type:40
Heart
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Articles related to Larsen-Like Syndrome B3gat3 Type:
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Search
GEO
for disease gene expression data for Larsen-Like Syndrome B3gat3 Type.
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Pathways related to Larsen-Like Syndrome B3gat3 Type according to GeneCards Suite gene sharing:
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Cellular components related to Larsen-Like Syndrome B3gat3 Type according to GeneCards Suite gene sharing:
Biological processes related to Larsen-Like Syndrome B3gat3 Type according to GeneCards Suite gene sharing:
Molecular functions related to Larsen-Like Syndrome B3gat3 Type according to GeneCards Suite gene sharing:
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