MCID: DSB002
MIFTS: 29

Desbuquois Dysplasia

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Desbuquois Dysplasia

MalaCards integrated aliases for Desbuquois Dysplasia:

Name: Desbuquois Dysplasia 12 13 15
Desbuquois Syndrome 12 45 74
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 12
Dysplasia, Desbuquois 41

Classifications:



External Ids:

Disease Ontology 12 DOID:0060462
MeSH 45 C535943
NCIt 51 C124056
UMLS 74 C0432242

Summaries for Desbuquois Dysplasia

Disease Ontology : 12 An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.

MalaCards based summary : Desbuquois Dysplasia, also known as desbuquois syndrome, is related to desbuquois dysplasia 1 and desbuquois dysplasia 2. An important gene associated with Desbuquois Dysplasia is CANT1 (Calcium Activated Nucleotidase 1), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotype is skeleton.

Related Diseases for Desbuquois Dysplasia

Diseases in the Desbuquois Dysplasia family:

Desbuquois Dysplasia 1 Desbuquois Dysplasia 2

Diseases related to Desbuquois Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 desbuquois dysplasia 1 33.8 CANT1 XYLT1
2 desbuquois dysplasia 2 12.6
3 bone dysplasia, lethal, holmgren type 11.1
4 catel-manzke syndrome 11.1
5 diastrophic dysplasia 10.3
6 multiple epiphyseal dysplasia 10.1
7 growth hormone deficiency 10.1
8 dwarfism 10.0
9 clubfoot 9.5 SLC26A2 CHST3
10 spondyloepiphyseal dysplasia with congenital joint dislocations 9.4 CANT1 CHST3 SLC26A2

Graphical network of the top 20 diseases related to Desbuquois Dysplasia:



Diseases related to Desbuquois Dysplasia

Symptoms & Phenotypes for Desbuquois Dysplasia

MGI Mouse Phenotypes related to Desbuquois Dysplasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.92 CHST3 IMPAD1 SLC26A2 XYLT1

Drugs & Therapeutics for Desbuquois Dysplasia

Drugs for Desbuquois Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Neuroserpin
2 Astragalus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Disease Gene Identification Unknown status NCT00916903

Search NIH Clinical Center for Desbuquois Dysplasia

Cochrane evidence based reviews: desbuquois syndrome

Genetic Tests for Desbuquois Dysplasia

Anatomical Context for Desbuquois Dysplasia

MalaCards organs/tissues related to Desbuquois Dysplasia:

42
Bone

Publications for Desbuquois Dysplasia

Articles related to Desbuquois Dysplasia:

(show all 26)
# Title Authors Year
1
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia. ( 30847897 )
2019
2
Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. ( 28462984 )
2017
3
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. ( 27881841 )
2016
4
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings. ( 27481334 )
2016
5
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency. ( 27030147 )
2016
6
A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type. ( 25486376 )
2015
7
Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia. ( 25252066 )
2014
8
XYLT1 mutations in Desbuquois dysplasia type 2. ( 24581741 )
2014
9
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. ( 21654728 )
2011
10
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. ( 21412251 )
2011
11
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. ( 21037275 )
2011
12
Mutation of CANT1 causes Desbuquois dysplasia. ( 20425819 )
2010
13
A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign. ( 20358610 )
2010
14
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. ( 20358597 )
2010
15
Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature. ( 19918492 )
2009
16
Identification of CANT1 mutations in Desbuquois dysplasia. ( 19853239 )
2009
17
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. ( 18553123 )
2008
18
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. ( 18925670 )
2008
19
A novel syndrome resembling Desbuquois dysplasia. ( 15558723 )
2005
20
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations. ( 14679586 )
2004
21
Clinical and genetic heterogeneity in Desbuquois dysplasia. ( 15211652 )
2004
22
Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients. ( 14679587 )
2004
23
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. ( 12676900 )
2003
24
Lethality in Desbuquois dysplasia: three new cases. ( 11200998 )
2001
25
A mild variant of Desbuquois dysplasia. ( 10378396 )
1999
26
A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia? ( 8956941 )
1996

Variations for Desbuquois Dysplasia

Expression for Desbuquois Dysplasia

Search GEO for disease gene expression data for Desbuquois Dysplasia.

Pathways for Desbuquois Dysplasia

GO Terms for Desbuquois Dysplasia

Cellular components related to Desbuquois Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 8.92 CANT1 CHST3 IMPAD1 XYLT1

Biological processes related to Desbuquois Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.16 CHST3 PGM3
2 chondroitin sulfate biosynthetic process GO:0030206 8.96 CHST3 XYLT1
3 proteoglycan biosynthetic process GO:0030166 8.62 CANT1 XYLT1

Sources for Desbuquois Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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