MCID: DSB002
MIFTS: 35

Desbuquois Dysplasia

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

Aliases & Classifications for Desbuquois Dysplasia

MalaCards integrated aliases for Desbuquois Dysplasia:

Name: Desbuquois Dysplasia 12 50 24 56 13 14
Desbuquois Syndrome 12 50 24 56 42 69
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 12 24
Dbqd 50 24
Micromelic Dwarfism, Narrow Chest, Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 50

Characteristics:

Orphanet epidemiological data:

56
desbuquois syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060462
MeSH 42 C535943
SNOMED-CT 64 254099008
Orphanet 56 ORPHA1425
MESH via Orphanet 43 C535943
UMLS via Orphanet 70 C0432242
ICD10 via Orphanet 34 Q78.8
UMLS 69 C0432242

Summaries for Desbuquois Dysplasia

NIH Rare Diseases : 50 desbuquois syndrome (dbqd) is a rare type of osteochondrodysplasia (a disorder of the development of bones and cartilage). characteristics may vary in severity and can include short stature with short extremities, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial characteristics and other abnormalities.two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. a variant form of dbqd, kim variant, has been described in 7 patients originating from korea and japan, and is characterized by short stature, joint and minor facial anomalies, together with significant hand anomalies with short bones in the hands, long fingers and advanced bone age. dbqd type 1 and kim variant are caused by mutations in the genecant1.  some cases of dbqd type 2 are caused by mutations in the gene xylt1 but in other cases the cause is unknown. it is inherited in an autosomal recessive manner. type 1 can be associated with severe respiratory problems. treatment for the condition is geared towards the signs and symptoms present in each individual. last updated: 9/18/2015

MalaCards based summary : Desbuquois Dysplasia, also known as desbuquois syndrome, is related to desbuquois dysplasia 2 and desbuquois dysplasia 1, and has symptoms including scoliosis, depressed nasal bridge and coxa valga. 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

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

Related Diseases for Desbuquois Dysplasia

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



Diseases related to Desbuquois Dysplasia

Symptoms & Phenotypes for Desbuquois Dysplasia

Human phenotypes related to Desbuquois Dysplasia:

56 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 Frequent (79-30%)
2 depressed nasal bridge 56 Very frequent (99-80%)
3 coxa valga 56 Frequent (79-30%)
4 proptosis 56 Very frequent (99-80%)
5 glaucoma 56 Very frequent (99-80%)
6 anteverted nares 56 Very frequent (99-80%)
7 elbow dislocation 56 Frequent (79-30%)
8 short neck 56 Very frequent (99-80%)
9 intellectual disability 56 Very frequent (99-80%)
10 ventricular septal defect 56 Frequent (79-30%)
11 radioulnar synostosis 56 Frequent (79-30%)
12 coxa vara 56 Frequent (79-30%)
13 low-set, posteriorly rotated ears 56 Frequent (79-30%)
14 joint hyperflexibility 56 Very frequent (99-80%)
15 bell-shaped thorax 56 Very frequent (99-80%)
16 hypotrichosis 56 Frequent (79-30%)
17 blue sclerae 56 Frequent (79-30%)
18 genu recurvatum 56 Frequent (79-30%)
19 patellar dislocation 56 Very frequent (99-80%)
20 small hand 56 Frequent (79-30%)
21 aplasia/hypoplasia of the abdominal wall musculature 56 Very frequent (99-80%)
22 abnormality of the metaphyses 56 Very frequent (99-80%)
23 abnormality of the eyelashes 56 Frequent (79-30%)
24 clinodactyly of the 5th finger 56 Frequent (79-30%)
25 severe short stature 56 Very frequent (99-80%)
26 disproportionate short-limb short stature 56 Very frequent (99-80%)
27 camptodactyly of finger 56 Very frequent (99-80%)
28 accelerated skeletal maturation 56 Very frequent (99-80%)
29 abnormality of the femoral neck or head region 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Desbuquois Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 FLNB IMPAD1 SLC26A2 XYLT1
2 limbs/digits/tail MP:0005371 9.46 FLNB IMPAD1 SLC26A2 XYLT1
3 mortality/aging MP:0010768 9.43 SLC26A2 XYLT1 CANT1 FLNB IMPAD1 PGM3
4 skeleton MP:0005390 9.02 CHST3 FLNB IMPAD1 SLC26A2 XYLT1

Drugs & Therapeutics for Desbuquois Dysplasia

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


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

Interventional clinical trials:


id 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

Genetic tests related to Desbuquois Dysplasia:

id Genetic test Affiliating Genes
1 Desbuquois Dysplasia 24 CANT1

Anatomical Context for Desbuquois Dysplasia

MalaCards organs/tissues related to Desbuquois Dysplasia:

39
Bone

Publications for Desbuquois Dysplasia

Articles related to Desbuquois Dysplasia:

(show all 23)
id 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
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency. ( 27030147 )
2016
4
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings. ( 27481334 )
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
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
A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign. ( 20358610 )
2010
12
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. ( 20358597 )
2010
13
Mutation of CANT1 causes Desbuquois dysplasia. ( 20425819 )
2010
14
Identification of CANT1 mutations in Desbuquois dysplasia. ( 19853239 )
2009
15
Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature. ( 19918492 )
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
Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients. ( 14679587 )
2004
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
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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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