MCID: VRL014
MIFTS: 11

Verloes Bourguignon Syndrome

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Verloes Bourguignon Syndrome

MalaCards integrated aliases for Verloes Bourguignon Syndrome:

Name: Verloes Bourguignon Syndrome 49 28 69
Skeletal Dysplasia with Amelogenesis Imperfecta and Platyspondyly 49
Platyspondyly with Amelogenesis Imperfecta 49
Amelogenesis Imperfecta and Platyspondyly 49

Classifications:



External Ids:

UMLS 69 C1832594

Summaries for Verloes Bourguignon Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2899Disease definitionAutosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.Visit the Orphanet disease page for more resources. Last updated: 3/19/2015

MalaCards based summary : Verloes Bourguignon Syndrome, also known as skeletal dysplasia with amelogenesis imperfecta and platyspondyly, is related to dental anomalies and short stature and amelogenesis imperfecta. An important gene associated with Verloes Bourguignon Syndrome is LTBP3 (Latent Transforming Growth Factor Beta Binding Protein 3).

Related Diseases for Verloes Bourguignon Syndrome

Diseases related to Verloes Bourguignon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dental anomalies and short stature 11.4
2 amelogenesis imperfecta 10.1
3 skeletal dysplasias 10.1

Symptoms & Phenotypes for Verloes Bourguignon Syndrome

Drugs & Therapeutics for Verloes Bourguignon Syndrome

Search Clinical Trials , NIH Clinical Center for Verloes Bourguignon Syndrome

Genetic Tests for Verloes Bourguignon Syndrome

Genetic tests related to Verloes Bourguignon Syndrome:

# Genetic test Affiliating Genes
1 Verloes Bourguignon Syndrome 28 LTBP3

Anatomical Context for Verloes Bourguignon Syndrome

Publications for Verloes Bourguignon Syndrome

Articles related to Verloes Bourguignon Syndrome:

# Title Authors Year
1
A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly. ( 8721563 )
1996

Variations for Verloes Bourguignon Syndrome

ClinVar genetic disease variations for Verloes Bourguignon Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LTBP3 NM_001130144.2(LTBP3): c.2322C> G (p.Tyr774Ter) single nucleotide variant Pathogenic rs121909145 GRCh37 Chromosome 11, 65313944: 65313944
2 LTBP3 NM_001130144.2(LTBP3): c.1859dupG (p.Cys620Trpfs) duplication Pathogenic rs878853262 GRCh38 Chromosome 11, 65547809: 65547809
3 LTBP3 NM_001130144.2(LTBP3): c.2071_2084delTACCGGCTCAAAGC (p.Tyr691Leufs) deletion Pathogenic rs875989822 GRCh38 Chromosome 11, 65547462: 65547475
4 LTBP3 NM_001130144.2(LTBP3): c.421C> T (p.Gln141Ter) single nucleotide variant Pathogenic rs796052116 GRCh37 Chromosome 11, 65321762: 65321762
5 LTBP3 NM_001130144.2(LTBP3): c.1531+1G> T single nucleotide variant Pathogenic rs875989823 GRCh38 Chromosome 11, 65551971: 65551971
6 LTBP3 NM_001130144.2(LTBP3): c.2216delG (p.Gly739Alafs) deletion Pathogenic rs752375653 GRCh38 Chromosome 11, 65546812: 65546812
7 LTBP3 NM_001130144.2(LTBP3): c.2356delG (p.Val786Trpfs) deletion Pathogenic rs875989824 GRCh38 Chromosome 11, 65543547: 65543547

Expression for Verloes Bourguignon Syndrome

Search GEO for disease gene expression data for Verloes Bourguignon Syndrome.

Pathways for Verloes Bourguignon Syndrome

GO Terms for Verloes Bourguignon Syndrome

Sources for Verloes Bourguignon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....