MCID: DSB002
MIFTS: 28

Desbuquois Dysplasia

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

Aliases & Classifications for Desbuquois Dysplasia

MalaCards integrated aliases for Desbuquois Dysplasia:

Name: Desbuquois Dysplasia 12 13 6 15
Desbuquois Syndrome 12 44 73
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 12
Dysplasia, Desbuquois 40

Classifications:



External Ids:

Disease Ontology 12 DOID:0060462
MeSH 44 C535943
SNOMED-CT 68 254099008
UMLS 73 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 33.6 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 type i 9.9
8 growth hormone deficiency 9.9
9 spondyloepiphyseal dysplasia with congenital joint dislocations 9.4 CANT1 CHST3
10 clubfoot 9.0 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:

46
# 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 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:

41
Bone

Publications for Desbuquois Dysplasia

Articles related to Desbuquois Dysplasia:

(show all 24)
# 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
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. ( 21654728 )
2011
9
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. ( 21412251 )
2011
10
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. ( 21037275 )
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 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
17
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. ( 18925670 )
2008
18
A novel syndrome resembling Desbuquois dysplasia. ( 15558723 )
2005
19
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations. ( 14679586 )
2004
20
Clinical and genetic heterogeneity in Desbuquois dysplasia. ( 15211652 )
2004
21
Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients. ( 14679587 )
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
24
A mild variant of Desbuquois dysplasia. ( 10378396 )
1999

Variations for Desbuquois Dysplasia

ClinVar genetic disease variations for Desbuquois Dysplasia:

6
(show top 50) (show all 118)
# Gene Variation Type Significance SNP ID Assembly Location
1 CANT1 NM_138793.3(CANT1): c.159T> C (p.Ala53=) single nucleotide variant Benign rs8077024 GRCh37 Chromosome 17, 76993546: 76993546
2 CANT1 NM_138793.3(CANT1): c.159T> C (p.Ala53=) single nucleotide variant Benign rs8077024 GRCh38 Chromosome 17, 78997464: 78997464
3 CANT1 NM_138793.3(CANT1): c.56G> A (p.Arg19Gln) single nucleotide variant Uncertain significance rs144060377 GRCh37 Chromosome 17, 76993649: 76993649
4 CANT1 NM_138793.3(CANT1): c.56G> A (p.Arg19Gln) single nucleotide variant Uncertain significance rs144060377 GRCh38 Chromosome 17, 78997567: 78997567
5 CANT1 NM_138793.3(CANT1): c.*1428_*1431delGAAG deletion Uncertain significance rs567566510 GRCh38 Chromosome 17, 78992119: 78992122
6 CANT1 NM_138793.3(CANT1): c.*1428_*1431delGAAG deletion Uncertain significance rs567566510 GRCh37 Chromosome 17, 76988201: 76988204
7 CANT1 NM_138793.3(CANT1): c.*1264_*1265dupGG duplication Uncertain significance rs886053521 GRCh38 Chromosome 17, 78992285: 78992286
8 CANT1 NM_138793.3(CANT1): c.*1264_*1265dupGG duplication Uncertain significance rs886053521 GRCh37 Chromosome 17, 76988367: 76988368
9 CANT1 NM_138793.3(CANT1): c.*998G> C single nucleotide variant Uncertain significance rs78037898 GRCh38 Chromosome 17, 78992552: 78992552
10 CANT1 NM_138793.3(CANT1): c.*998G> C single nucleotide variant Uncertain significance rs78037898 GRCh37 Chromosome 17, 76988634: 76988634
11 CANT1 NM_138793.3(CANT1): c.*876G> A single nucleotide variant Uncertain significance rs551101097 GRCh38 Chromosome 17, 78992674: 78992674
12 CANT1 NM_138793.3(CANT1): c.*876G> A single nucleotide variant Uncertain significance rs551101097 GRCh37 Chromosome 17, 76988756: 76988756
13 CANT1 NM_138793.3(CANT1): c.*753C> A single nucleotide variant Uncertain significance rs745568057 GRCh38 Chromosome 17, 78992797: 78992797
14 CANT1 NM_138793.3(CANT1): c.*847C> T single nucleotide variant Benign rs11891 GRCh37 Chromosome 17, 76988785: 76988785
15 CANT1 NM_138793.3(CANT1): c.*847C> T single nucleotide variant Benign rs11891 GRCh38 Chromosome 17, 78992703: 78992703
16 CANT1 NM_138793.3(CANT1): c.*813G> C single nucleotide variant Uncertain significance rs535754990 GRCh37 Chromosome 17, 76988819: 76988819
17 CANT1 NM_138793.3(CANT1): c.*813G> C single nucleotide variant Uncertain significance rs535754990 GRCh38 Chromosome 17, 78992737: 78992737
18 CANT1 NM_138793.3(CANT1): c.*753C> A single nucleotide variant Uncertain significance rs745568057 GRCh37 Chromosome 17, 76988879: 76988879
19 CANT1 NM_138793.3(CANT1): c.*664T> C single nucleotide variant Likely benign rs79189369 GRCh38 Chromosome 17, 78992886: 78992886
20 CANT1 NM_138793.3(CANT1): c.*664T> C single nucleotide variant Likely benign rs79189369 GRCh37 Chromosome 17, 76988968: 76988968
21 CANT1 NM_138793.3(CANT1): c.*450A> G single nucleotide variant Uncertain significance rs886053523 GRCh38 Chromosome 17, 78993100: 78993100
22 CANT1 NM_138793.3(CANT1): c.*450A> G single nucleotide variant Uncertain significance rs886053523 GRCh37 Chromosome 17, 76989182: 76989182
23 CANT1 NM_138793.3(CANT1): c.*89G> A single nucleotide variant Uncertain significance rs146866436 GRCh38 Chromosome 17, 78993461: 78993461
24 CANT1 NM_138793.3(CANT1): c.*89G> A single nucleotide variant Uncertain significance rs146866436 GRCh37 Chromosome 17, 76989543: 76989543
25 CANT1 NM_138793.3(CANT1): c.835+10G> C single nucleotide variant Uncertain significance rs779296231 GRCh38 Chromosome 17, 78995008: 78995008
26 CANT1 NM_138793.3(CANT1): c.835+10G> C single nucleotide variant Uncertain significance rs779296231 GRCh37 Chromosome 17, 76991090: 76991090
27 CANT1 NM_138793.3(CANT1): c.809G> A (p.Arg270Gln) single nucleotide variant Uncertain significance rs764240311 GRCh38 Chromosome 17, 78995044: 78995044
28 CANT1 NM_138793.3(CANT1): c.809G> A (p.Arg270Gln) single nucleotide variant Uncertain significance rs764240311 GRCh37 Chromosome 17, 76991126: 76991126
29 CANT1 NM_138793.3(CANT1): c.556G> A (p.Val186Ile) single nucleotide variant Uncertain significance rs199516699 GRCh38 Chromosome 17, 78997067: 78997067
30 CANT1 NM_138793.3(CANT1): c.556G> A (p.Val186Ile) single nucleotide variant Uncertain significance rs199516699 GRCh37 Chromosome 17, 76993149: 76993149
31 CANT1 NM_138793.3(CANT1): c.433G> T (p.Val145Leu) single nucleotide variant Uncertain significance rs140112462 GRCh38 Chromosome 17, 78997190: 78997190
32 CANT1 NM_138793.3(CANT1): c.433G> T (p.Val145Leu) single nucleotide variant Uncertain significance rs140112462 GRCh37 Chromosome 17, 76993272: 76993272
33 CANT1 NM_138793.3(CANT1): c.-139T> C single nucleotide variant Uncertain significance rs548338706 GRCh38 Chromosome 17, 78997761: 78997761
34 CANT1 NM_138793.3(CANT1): c.-139T> C single nucleotide variant Uncertain significance rs548338706 GRCh37 Chromosome 17, 76993843: 76993843
35 CANT1 NM_138793.3(CANT1): c.-276G> A single nucleotide variant Uncertain significance rs886053530 GRCh38 Chromosome 17, 78997898: 78997898
36 CANT1 NM_138793.3(CANT1): c.-276G> A single nucleotide variant Uncertain significance rs886053530 GRCh37 Chromosome 17, 76993980: 76993980
37 CANT1 NM_138793.3(CANT1): c.-322C> A single nucleotide variant Uncertain significance rs868277630 GRCh38 Chromosome 17, 78997944: 78997944
38 CANT1 NM_138793.3(CANT1): c.-322C> A single nucleotide variant Uncertain significance rs868277630 GRCh37 Chromosome 17, 76994026: 76994026
39 CANT1 NM_138793.3(CANT1): c.-341-15C> T single nucleotide variant Uncertain significance rs886053531 GRCh38 Chromosome 17, 78997978: 78997978
40 CANT1 NM_138793.3(CANT1): c.-341-15C> T single nucleotide variant Uncertain significance rs886053531 GRCh37 Chromosome 17, 76994060: 76994060
41 CANT1 NM_138793.3(CANT1): c.*1484C> A single nucleotide variant Uncertain significance rs886053519 GRCh38 Chromosome 17, 78992066: 78992066
42 CANT1 NM_138793.3(CANT1): c.*1484C> A single nucleotide variant Uncertain significance rs886053519 GRCh37 Chromosome 17, 76988148: 76988148
43 CANT1 NM_138793.3(CANT1): c.*1479C> A single nucleotide variant Uncertain significance rs886053520 GRCh38 Chromosome 17, 78992071: 78992071
44 CANT1 NM_138793.3(CANT1): c.*1479C> A single nucleotide variant Uncertain significance rs886053520 GRCh37 Chromosome 17, 76988153: 76988153
45 CANT1 NM_138793.3(CANT1): c.*1056T> C single nucleotide variant Likely benign rs77565945 GRCh38 Chromosome 17, 78992494: 78992494
46 CANT1 NM_138793.3(CANT1): c.*1056T> C single nucleotide variant Likely benign rs77565945 GRCh37 Chromosome 17, 76988576: 76988576
47 CANT1 NM_138793.3(CANT1): c.*1032G> T single nucleotide variant Uncertain significance rs139951975 GRCh38 Chromosome 17, 78992518: 78992518
48 CANT1 NM_138793.3(CANT1): c.*1032G> T single nucleotide variant Uncertain significance rs139951975 GRCh37 Chromosome 17, 76988600: 76988600
49 CANT1 NM_138793.3(CANT1): c.*829G> A single nucleotide variant Likely benign rs115856545 GRCh37 Chromosome 17, 76988803: 76988803
50 CANT1 NM_138793.3(CANT1): c.*829G> A single nucleotide variant Likely benign rs115856545 GRCh38 Chromosome 17, 78992721: 78992721

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 chondroitin sulfate biosynthetic process GO:0030206 8.62 CHST3 XYLT1

Sources for Desbuquois Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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