Larsen-like syndrome B3GAT3 type

Summary
Synonym
  • Larsen-like syndrome, B3GAT3 type
  • multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Definition
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.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:0080575
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
9469 CHST3 carbohydrate sulfotransferase 3
11285 B4GALT7 beta-1,4-galactosyltransferase 7
26229 B3GAT3 beta-1,3-glucuronyltransferase 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
72727 B3gat3 beta-1,3-glucuronyltransferase 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
293722 B3gat3 beta-1,3-glucuronyltransferase 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
251900 GlcAT-I Glucuronyltransferase I
Displaying 1 entry
Gene ID Gene Symbol Description Source
192334 b3gat3 beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
398597 b3gat3.L beta-1,3-glucuronyltransferase 3 L homeolog Xenopus laevis (African clawed frog)
594895 b3gat3 beta-1,3-glucuronyltransferase 3 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
174517 sqv-8 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase sqv-8
The Human Phenotype Ontology
Displaying entries 1 - 10 of 81 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000160 Narrow mouth
HP:0000175 Cleft palate
HP:0000238 Hydrocephalus
HP:0000248 Brachycephaly
HP:0000274 Small face
HP:0000308 Microretrognathia
HP:0000316 Hypertelorism
HP:0000337 Broad forehead
Displaying all 2 entries
Gene ID Gene Symbol Description
26229 B3GAT3 beta-1,3-glucuronyltransferase 3
9469 CHST3 carbohydrate sulfotransferase 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024