MCID: VRL014
MIFTS: 9

Verloes Bourguignon Syndrome malady

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Verloes Bourguignon Syndrome

Aliases & Descriptions for Verloes Bourguignon Syndrome:

Name: Verloes Bourguignon Syndrome 50 69
Skeletal Dysplasia with Amelogenesis Imperfecta and Platyspondyly 50
Platyspondyly with Amelogenesis Imperfecta 50
Amelogenesis Imperfecta and Platyspondyly 50
Verloes-Bourguignon Syndrome 29

Classifications:



Summaries for Verloes Bourguignon Syndrome

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:

id Related Disease Score Top Affiliating Genes
1 dental anomalies and short stature 11.3
2 amelogenesis imperfecta 10.1
3 skeletal dysplasias 10.1
4 skeletal dysplasia 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:

id Genetic test Affiliating Genes
1 Verloes Bourguignon Syndrome 29

Anatomical Context for Verloes Bourguignon Syndrome

Publications for Verloes Bourguignon Syndrome

Variations for Verloes Bourguignon Syndrome

ClinVar genetic disease variations for Verloes Bourguignon Syndrome:

6
id 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
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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