| H01498 | |
| H number | H01498 |
| Name | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects; Larsen-like syndrome |
| Description | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD), also termed Larsen-like syndrome, is an autosomal recessive disease that is caused by the mutations in the B3GAT3. B3GAT3 encodes key enzyme involving in glycosaminoglycan biosyntheses. The mutation results in decreased levels of dermatan sulfate, chondroitin sulfate, and heparan sulfate proteoglycans. The affected individuals showed dysmorphic faces, bilateral dislocations of the elbows, hips, and knees, and short stature, as well as cardiovascular defects. |
| Category | Inherited metabolic disorder |
| Network | nt06029(H01498) Glycosaminoglycan biosynthesis |
| Gene | B3GAT3 [HSA:26229] [KO:K10158] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.E ICD-10: Q74.8 MeSH: C563914 OMIM: 245600 |
| Reference | PMID:21763480 AUTHORS Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nurnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nurnberg P, Sugahara K, Mundlos S, Hoffmann K TITLE Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. JOURNAL Am J Hum Genet 89:15-27 (2011) DOI:10.1016/j.ajhg.2011.05.021 PMID:24668659 AUTHORS von Oettingen JE, Tan WH, Dauber A TITLE Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype. JOURNAL Am J Med Genet A 164A:1580-6 (2014) DOI:10.1002/ajmg.a.36487 |