MCID: DSB002
MIFTS: 42

Desbuquois Dysplasia malady

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

Aliases & Classifications for Desbuquois Dysplasia

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 12diseasecard, 37MeSH, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Desbuquois Dysplasia:

Name: Desbuquois Dysplasia 11 46 23 13 52 12
Desbuquois Syndrome 11 46 23 52 37 66
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 11 23
 
Dbqd 46 23
Micromelic Dwarfism, Narrow Chest, Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 46

Characteristics:

Orphanet epidemiological data:

52
desbuquois dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal

Classifications:



External Ids:

Disease Ontology11 DOID:0060462
MeSH37 C535943
Orphanet52 ORPHA1425
SNOMED-CT60 254099008
ICD10 via Orphanet29 Q78.8
MESH via Orphanet38 C535943
UMLS via Orphanet67 C0432242
UMLS66 C0432242

Summaries for Desbuquois Dysplasia

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NIH Rare Diseases:46 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 gene cant1.  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 Array, Array and Array. An important gene associated with Desbuquois Dysplasia is CANT1 (Calcium Activated Nucleotidase 1), and among its related pathways are dermatan sulfate biosynthesis and Diseases associated with O-glycosylation of proteins. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Disease Ontology:11 An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.

Related Diseases for Desbuquois Dysplasia

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Diseases in the Desbuquois Dysplasia family:

Desbuquois Dysplasia 2 Desbuquois Dysplasia 1

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

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1desbuquois dysplasia 212.3
2desbuquois dysplasia 112.2
3cystic echinococcosis10.4SLC26A2, TRPV4
4myopathy with extrapyramidal signs10.4CANT1, CHST3, SLC26A2
5boomerang dysplasia10.4FLNB, SLC26A2
6neuropathy, distal hereditary motor, type iia10.3COMP, SLC26A2
7pars planitis10.1COMP, SLC26A2
8osteopathia striata with pigmentary dermopathy including white forelock10.1COMP, TRPV4
9atrioventricular septal defect10.1COMP, FLNB, SLC26A2
10diastrophic dysplasia10.1
11skeletal dysplasias10.1
12skeletal dysplasia10.1
13b- and t-cell mixed leukemia10.1DCN, FLNB
14vulvovaginal candidiasis10.1COMP, FLNB, SLC26A2
15larsen syndrome10.0B4GALT7, CANT1, CHST3, FLNB
16atelosteogenesis ii10.0COMP, SLC26A2
17infertility due to extratesticular cause10.0BGN, DCN
18multiple epiphyseal dysplasia10.0
19growth hormone deficiency10.0
20peripheral osteosarcoma9.8BGN, DCN
21smed strudwick type9.8COMP, FMOD, TRPV4
22acromesomelic dysplasia9.8COMP, FMOD, TRPV4
23immunodeficiency 309.8COMP, DCN, SLC26A2
24achondrogenesis, type ii or hypochondrogenesis9.8COMP, FMOD, TRPV4
25frontonasal dysplasia 39.6BGN, DCN, FMOD
26epiphyseal dysplasia, multiple, 49.6BGN, DCN, FLNB, SLC26A2
27beckwith-wiedemann syndrome9.4B4GALT7, IGFBP3
28fibrochondrogenesis5.4B4GALT7, BGN, CANT1, CHST3, COMP, DCN

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



Diseases related to desbuquois dysplasia

Symptoms for Desbuquois Dysplasia

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Symptoms:

 52 (show all 29)
  • low-set, posteriorly rotated ears
  • anteverted nares
  • short neck
  • abnormality of the eyelashes
  • glaucoma
  • proptosis
  • blue sclerae
  • abnormality of the metaphyses
  • hypotrichosis
  • intellectual disability
  • bell-shaped thorax
  • ventricular septal defect
  • scoliosis
  • coxa valga
  • coxa vara
  • genu recurvatum
  • radioulnar synostosis
  • patellar dislocation
  • elbow dislocation
  • abnormality of the femoral neck or head region
  • severe short stature
  • clinodactyly of the 5th finger
  • depressed nasal bridge
  • accelerated skeletal maturation
  • joint hyperflexibility
  • disproportionate short-limb short stature
  • aplasia/hypoplasia of the abdominal wall musculature
  • camptodactyly of finger
  • small hand

Drugs & Therapeutics for Desbuquois Dysplasia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903

Search NIH Clinical Center for Desbuquois Dysplasia


Cochrane evidence based reviews: desbuquois syndrome

Genetic Tests for Desbuquois Dysplasia

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Genetic tests related to Desbuquois Dysplasia:

id Genetic test Affiliating Genes
1 Desbuquois Dysplasia23 CANT1

Anatomical Context for Desbuquois Dysplasia

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MalaCards organs/tissues related to Desbuquois Dysplasia:

34
Bone

Animal Models for Desbuquois Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Desbuquois Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2BGN, DCN, FLNB, FMOD, IMPAD1, SLC26A2
2MP:00053717.7BGN, COMP, FLNB, FMOD, IMPAD1, SLC26A2
3MP:00053697.5BGN, COMP, DCN, FMOD, IGFBP3, TRPV4
4MP:00053877.4BGN, CHST3, COMP, DCN, FMOD, LARS
5MP:00053907.1BGN, CHST3, COMP, DCN, FLNB, FMOD
6MP:00053866.6BGN, CHST3, COMP, DCN, FLNB, FMOD
7MP:00053786.6BGN, COMP, DCN, FLNB, FMOD, IGFBP3

Publications for Desbuquois Dysplasia

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Articles related to Desbuquois Dysplasia:

(show all 21)
idTitleAuthorsYear
1
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency. (27030147)
2016
2
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings. (27481334)
2016
3
A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type. (25486376)
2015
4
XYLT1 mutations in Desbuquois dysplasia type 2. (24581741)
2014
5
Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia. (25252066)
2014
6
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. (21037275)
2011
7
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. (21412251)
2011
8
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. (21654728)
2011
9
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. (20358597)
2010
10
Mutation of CANT1 causes Desbuquois dysplasia. (20425819)
2010
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
Identification of CANT1 mutations in Desbuquois dysplasia. (19853239)
2009
13
Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature. (19918492)
2009
14
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. (18925670)
2008
15
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
16
A novel syndrome resembling Desbuquois dysplasia. (15558723)
2005
17
Desbuquois dysplasia, a reevaluation with abnormal and &quot;normal&quot; hands: radiographic manifestations. (14679586)
2004
18
Clinical and genetic heterogeneity in Desbuquois dysplasia. (15211652)
2004
19
Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients. (14679587)
2004
20
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. (12676900)
2003
21
Lethality in Desbuquois dysplasia: three new cases. (11200998)
2001

Variations for Desbuquois Dysplasia

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Expression for genes affiliated with Desbuquois Dysplasia

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Search GEO for disease gene expression data for Desbuquois Dysplasia.

Pathways for genes affiliated with Desbuquois Dysplasia

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6B4GALT7, CHST3, XYLT1
2
Show member pathways
8.9BGN, DCN, FMOD
38.6BGN, DCN, IGFBP3
4
Show member pathways
8.5BGN, COMP, DCN, FMOD
58.5BGN, COMP, DCN, FMOD
68.2BGN, CHST3, COMP, DCN, FMOD
7
Show member pathways
8.1B4GALT7, BGN, CHST3, DCN, FMOD, XYLT1
8
Show member pathways
8.1B4GALT7, BGN, CHST3, DCN, FMOD, SLC26A2
9
Show member pathways
6.7B4GALT7, BGN, CHST3, DCN, FMOD, IMPAD1

GO Terms for genes affiliated with Desbuquois Dysplasia

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.3BGN, DCN, FMOD
2Golgi lumenGO:00057969.2BGN, DCN, FMOD
3proteinaceous extracellular matrixGO:00055788.6BGN, COMP, DCN, FMOD
4extracellular matrixGO:00310128.0B4GALT7, BGN, COMP, DCN, FLNB, FMOD
5extracellular regionGO:00055767.4BGN, COMP, DCN, FMOD, IGFBP3, XYLT1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan biosynthetic processGO:000602410.4B4GALT7, XYLT1
2protein N-linked glycosylationGO:00064879.8B4GALT7, PGM3
3negative regulation of JAK-STAT cascadeGO:00464269.7BGN, DCN
4peptide cross-linking via chondroitin 4-sulfate glycosaminoglycanGO:00198009.7BGN, DCN
5chondroitin sulfate catabolic processGO:00302079.6BGN, DCN
6glycosaminoglycan metabolic processGO:00302039.4B4GALT7, BGN, DCN
7dermatan sulfate biosynthetic processGO:00302089.3BGN, DCN
8extracellular matrix organizationGO:00301989.1BGN, COMP, DCN
9chondroitin sulfate biosynthetic processGO:00302068.9BGN, CHST3, DCN, XYLT1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:00508409.4BGN, DCN
2glycosaminoglycan bindingGO:00055399.1BGN, DCN

Sources for Desbuquois Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet