MCID: DSB002
MIFTS: 28

Desbuquois Dysplasia

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

Aliases & Classifications for Desbuquois Dysplasia

MalaCards integrated aliases for Desbuquois Dysplasia:

Name: Desbuquois Dysplasia 12 13 14
Desbuquois Syndrome 12 41 69
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060462
MeSH 41 C535943
SNOMED-CT 64 254099008
UMLS 69 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 is Glycosaminoglycan metabolism. The drugs Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are craniofacial and limbs/digits/tail

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 33.4 CANT1 XYLT1
2 desbuquois dysplasia 2 12.4
3 diastrophic dysplasia 10.1
4 skeletal dysplasias 10.1
5 aging 9.9
6 multiple epiphyseal dysplasia 9.9
7 growth hormone deficiency 9.9
8 clubfoot 9.5 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 IMPAD1 SLC26A2 XYLT1
2 limbs/digits/tail MP:0005371 9.13 IMPAD1 SLC26A2 XYLT1
3 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 Nutraceutical

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:

38
Bone

Publications for Desbuquois Dysplasia

Articles related to Desbuquois Dysplasia:

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

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 integral component of membrane GO:0016021 9.35 CANT1 CHST3 IMPAD1 SLC26A2 XYLT1
2 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 chondroitin sulfate biosynthetic process GO:0030206 8.62 CHST3 XYLT1

Sources for Desbuquois Dysplasia

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
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