Details of Disease

General Information of Disease (ID: DISVEUGO)

• Disease Name: Larsen-like syndrome, B3GAT3 type
• Synonyms: Larsen syndrome, autosomal recessive, formerly; multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects; multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects; multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects; JDSCD; Larsen syndrome, autosomal recessive; multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome; multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
• Definition: Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia 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. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.
• Disease Hierarchy:
  DISMT2VZ: Cardiogenetic disease
  DISMFQKM: Developmental anomaly of metabolic origin
  DIS400QP: Congenital disorder of glycosylation
  DIS5Z8U6: Skeletal dysplasia
  DISVEUGO: Larsen-like syndrome, B3GAT3 type
• Disease Identifiers:
  MONDO ID: MONDO_0009511
  UMLS CUI: C3278404
  OMIM ID: 245600
  MedGen ID: 480034
  Orphanet ID: 284139

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
B3GAT3	OTDSN5XF	Strong	Autosomal recessive	[1]

References

• [1] Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. Genes (Basel). 2019 Aug 21;10(9):631. doi: 10.3390/genes10090631.