Details of Disease | DrugMAP

General Information of Disease (ID: DISTPSZ0)

Disease Name	Brachyolmia-amelogenesis imperfecta syndrome
Synonyms	Verloes Bourguignon syndrome; tooth agenesis, selective, 6, formerly; amelogenesis imperfecta and platyspondyly; skeletal dysplasia with amelogenesis imperfecta and platyspondyly; tooth agenesis, selective, 6; platyspondyly-amelogenesis imperfecta syndrome; selective tooth agenesis 5; STHAG6; Verloes-Bourguignon syndrome; dental anomalies and short stature; DASS; platyspondyly with amelogenesis imperfecta
Definition	An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.
Disease Hierarchy	DIS1JG9A: Spondyloepiphyseal dysplasia DISTPSZ0: Brachyolmia-amelogenesis imperfecta syndrome
Disease Identifiers	MONDO ID MONDO_0011018 MESH ID C536538 UMLS CUI C1832594 OMIM ID 601216 MedGen ID 318659 Orphanet ID 2899 SNOMED CT ID 716195006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LTBP3	OTME98V7	Definitive	Autosomal recessive	[1]
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References

1	Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. Hum Mol Genet. 2015 Jun 1;24(11):3038-49. doi: 10.1093/hmg/ddv053. Epub 2015 Feb 10.