MCID: DSB002
MIFTS: 32

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 15
Desbuquois Syndrome 12 43 71
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 12
Dysplasia, Desbuquois 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0060462
MeSH 43 C535943
NCIt 49 C124056
SNOMED-CT 67 254099008
UMLS 71 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 2 and desbuquois dysplasia 1. An important gene associated with Desbuquois Dysplasia is CANT1 (Calcium Activated Nucleotidase 1), and among its related pathways/superpathways are Metabolism and Chondroitin sulfate/dermatan sulfate metabolism. The drug Astragalus has been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, 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:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 desbuquois dysplasia 2 34.6 XYLT1 LOC102723692
2 desbuquois dysplasia 1 34.5 XYLT1 LOC102723692 CANT1
3 odontochondrodysplasia 29.2 XYLT1 SLC26A2 CHST3 CANT1 B4GALT7 B3GALT6
4 catel-manzke syndrome 11.6
5 bone dysplasia, lethal, holmgren type 11.2
6 scoliosis 10.5
7 diastrophic dysplasia 10.4
8 epiphyseal dysplasia, multiple, 7 10.4
9 achondrogenesis 10.3
10 boomerang dysplasia 10.1 SLC26A2 B4GALT7
11 cornelia de lange syndrome 1 10.1
12 coxa vara 10.1
13 chromosome 2q35 duplication syndrome 10.1
14 atelosteogenesis, type ii 10.1
15 achondrogenesis, type ib 10.1
16 atelosteogenesis 10.1
17 open-angle glaucoma 10.1
18 respiratory failure 10.1
19 cornelia de lange syndrome 10.1
20 multiple epiphyseal dysplasia 10.1
21 spondylosis 10.1
22 dwarfism 10.1
23 growth hormone deficiency 10.1
24 skeletal dysplasias 10.1
25 overgrowth syndrome 10.1
26 congenital joint dislocations 10.1 CHST3 BPNT2
27 sleep apnea 10.0
28 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0 SLC26A2 CHST3 CANT1
29 ehlers-danlos syndrome progeroid type 10.0 B4GALT7 B3GAT3 B3GALT6
30 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 10.0 CHST3 B4GALT7 B3GAT3
31 radioulnar synostosis 9.9 B4GALT7 B3GAT3 B3GALT6
32 brachyolmia 9.9 SLC26A2 SLC10A7
33 angioid streaks 9.9 XYLT2 XYLT1
34 collagen disease 9.9 B4GALT7 B3GALT6
35 spondyloepimetaphyseal dysplasia, matrilin-3 related 9.9 SLC26A2 CHST3 B3GALT6
36 coffin-siris syndrome 3 9.9 CSGALNACT1 B3GAT3
37 pseudoxanthoma elasticum 9.7 XYLT2 XYLT1 LOC102723692
38 sotos syndrome 1 9.5 XYLT2 B4GALT7
39 larsen-like syndrome b3gat3 type 9.2 XYLT2 XYLT1 CANT1 B4GALT7 B3GAT3 B3GALT6
40 temtamy preaxial brachydactyly syndrome 9.1 XYLT1 CSGALNACT1 CHST3 B4GALT7 B3GAT3 B3GALT6
41 larsen syndrome 8.8 XYLT1 SLC26A2 CHST3 CANT1 BPNT2 B4GALT7

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.55 BPNT2 CSGALNACT1 SLC10A7 SLC26A2 XYLT1
2 limbs/digits/tail MP:0005371 9.35 BPNT2 CSGALNACT1 SLC10A7 SLC26A2 XYLT1
3 skeleton MP:0005390 9.17 BPNT2 CHST3 CSGALNACT1 FAM20B SLC10A7 SLC26A2

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 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:

40
Bone, Bone Marrow, Skin

Publications for Desbuquois Dysplasia

Articles related to Desbuquois Dysplasia:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. 61
31988067 2020
2
CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage. 61
32277574 2020
3
Posterior vertebral column resection for rigid proximal thoracic kyphoscoliosis with broken growing rods in a patient with Desbuquois dysplasia. 61
31950479 2020
4
Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high-density SNP array to map homozygosity and identify the gene. 61
31587486 2019
5
[Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I]. 61
31813149 2019
6
A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia. 61
31348018 2019
7
Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs. 61
31510824 2019
8
Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification. 61
30439444 2019
9
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. 61
31438591 2019
10
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia. 61
30847897 2019
11
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. 61
28742282 2017
12
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. 61
28543917 2017
13
Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. 61
28462984 2017
14
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. 61
27881841 2017
15
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity. 61
27599773 2017
16
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings. 61
27481334 2016
17
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency. 61
27030147 2016
18
A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type. 61
25486376 2015
19
[Two siblings with bilateral congenital knee dislocations: case report]. 61
26317189 2015
20
Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias. 61
26582078 2015
21
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. 61
24755949 2015
22
Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia. 61
25252066 2014
23
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. 61
24931394 2014
24
XYLT1 mutations in Desbuquois dysplasia type 2. 61
24581741 2014
25
Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes. 61
23420745 2013
26
IMPAD1 mutations in two Catel-Manzke like patients. 61
22887726 2012
27
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay. 61
22711505 2012
28
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. 61
22539336 2012
29
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. 61
21654728 2011
30
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. 61
21412251 2011
31
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. 61
21037275 2011
32
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. 61
20830804 2010
33
Mutation of CANT1 causes Desbuquois dysplasia. 61
20425819 2010
34
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. 61
20358597 2010
35
A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign. 61
20358610 2010
36
Identification of CANT1 mutations in Desbuquois dysplasia. 61
19853239 2009
37
Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature. 61
19918492 2009
38
Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature. 61
19144099 2009
39
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 61
18925670 2008
40
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. 61
18553123 2008
41
Desbuquois syndrome in three sisters with significantly different lengths of survival. 61
16642505 2006
42
Use of CobraPLA for airway management in a neonate with Desbuquois syndrome. Case report and anesthetic implications. 61
15960646 2005
43
A novel syndrome resembling Desbuquois dysplasia. 61
15558723 2005
44
Clinical and genetic heterogeneity in Desbuquois dysplasia. 61
15211652 2004
45
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations. 61
14679586 2004
46
Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients. 61
14679587 2004
47
Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family. 61
14629506 2003
48
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. 61
12676900 2003
49
Pathological case of the month: Desbuquois syndrome. 61
11483130 2001
50
[Desbuquois syndrome]. 61
11462563 2001

Variations for Desbuquois Dysplasia

Expression for Desbuquois Dysplasia

Search GEO for disease gene expression data for Desbuquois Dysplasia.

Pathways for Desbuquois Dysplasia

Pathways related to Desbuquois Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 XYLT2 XYLT1 SLC26A2 CSGALNACT1 CHST3 CANT1
2
Show member pathways
12.01 XYLT2 XYLT1 CSGALNACT1 CHST3 B4GALT7 B3GAT3
3
Show member pathways
11.98 XYLT2 XYLT1 SLC26A2 CSGALNACT1 CHST3 B4GALT7
4
Show member pathways
11.39 XYLT2 XYLT1 B4GALT7 B3GAT3 B3GALT6

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 membrane GO:0016020 10.13 XYLT2 XYLT1 TMEM199 SLC26A2 SLC10A7 FAM20B
2 integral component of membrane GO:0016021 9.97 XYLT2 XYLT1 TMEM199 SLC26A2 SLC10A7 FAM20B
3 Golgi membrane GO:0000139 9.61 XYLT2 XYLT1 SLC10A7 FAM20B CSGALNACT1 CHST3
4 Golgi cisterna membrane GO:0032580 9.56 CSGALNACT1 CANT1 B4GALT7 B3GALT6
5 Golgi medial cisterna GO:0005797 9.37 SLC10A7 B3GALT6
6 Golgi apparatus GO:0005794 9.36 XYLT2 XYLT1 SLC10A7 FAM20B CSGALNACT1 CHST3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.69 CHST3 B4GALT7 B3GAT3
2 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.67 XYLT2 XYLT1 B3GAT3 B3GALT6
3 protein glycosylation GO:0006486 9.65 B4GALT7 B3GAT3 B3GALT6
4 glycosaminoglycan biosynthetic process GO:0006024 9.65 XYLT2 XYLT1 B4GALT7 B3GAT3 B3GALT6
5 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.62 XYLT2 XYLT1 CSGALNACT1 B3GAT3
6 heparin biosynthetic process GO:0030210 9.58 XYLT2 SLC10A7 CSGALNACT1
7 chondroitin sulfate biosynthetic process GO:0030206 9.55 XYLT2 XYLT1 CSGALNACT1 CHST3 B3GALT6
8 endochondral ossification GO:0001958 9.49 CSGALNACT1 BPNT2
9 chondroitin sulfate metabolic process GO:0030204 9.46 CSGALNACT1 BPNT2
10 dermatan sulfate proteoglycan biosynthetic process GO:0050651 9.43 CSGALNACT1 B3GAT3
11 proteoglycan biosynthetic process GO:0030166 9.35 XYLT2 XYLT1 FAM20B CSGALNACT1 CANT1
12 glycosaminoglycan metabolic process GO:0030203 9.02 XYLT2 XYLT1 B4GALT7 B3GAT3 B3GALT6

Molecular functions related to Desbuquois Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.03 XYLT2 XYLT1 FAM20B CSGALNACT1 CANT1 BPNT2
2 transferase activity, transferring glycosyl groups GO:0016757 9.56 XYLT2 XYLT1 B4GALT7 B3GALT6
3 transferase activity GO:0016740 9.56 XYLT2 XYLT1 FAM20B CSGALNACT1 CHST3 B4GALT7
4 glucuronosyltransferase activity GO:0015020 9.4 CSGALNACT1 B3GAT3
5 acetylgalactosaminyltransferase activity GO:0008376 9.37 CSGALNACT1 B3GALT6
6 acetylglucosaminyltransferase activity GO:0008375 9.33 XYLT2 XYLT1 B3GALT6
7 galactosyltransferase activity GO:0008378 9.32 B4GALT7 B3GALT6
8 protein xylosyltransferase activity GO:0030158 8.62 XYLT2 XYLT1

Sources for Desbuquois Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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