DBQD
MCID: DSB001
MIFTS: 27

Desbuquois Syndrome (DBQD) malady

Bone, Fetal categories

Summaries for Desbuquois Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Desbuquois syndrome 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, joint laxity, kyphoscoliosis, distinctive facial characteristics and other abnormalities. there is evidence that in some individuals (those with hand abnormalities only), it is caused by mutations in the cant1 gene. it is inherited in an autosomal recessive manner. treatment for the condition is geared towards the individual signs and symptoms present in each individual. last updated: 6/14/2011

MalaCards: Desbuquois Syndrome, also known as desbuquois dysplasia, is related to diastrophic dysplasia and n syndrome, and has symptoms including proptosis/exophthalmos, glaucoma and depressed nasal bridge. An important gene associated with Desbuquois Syndrome is CANT1 (calcium activated nucleotidase 1).

Description from OMIM:47 251450,300881

Aliases & Classifications for Desbuquois Syndrome

Sources:
43NIH Rare Diseases, 22GTR, 49Orphanet, 61UMLS, 20GeneTests, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
desbuquois dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

desbuquois syndrome 43 22 49 61
desbuquois dysplasia 43 20 47 49
micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification 43
dbqd 43


External Ids:

MESH via Orphanet36 C535943
ICD10 via Orphanet26 Q78.8
SNOMED-CT via Orphanet58 254099008
UMLS via Orphanet62 C0432242

Related Diseases for Desbuquois Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Desbuquois Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1diastrophic dysplasia10.3
2n syndrome10.2
3multiple epiphyseal dysplasia10.1
4multiple epiphyseal dysplasia, recessive10.1
5dwarfism10.1
6char syndrome10.1

Graphical network of diseases related to Desbuquois Syndrome:



Diseases related to desbuquois syndrome

Clinical Features for Desbuquois Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

251450,300881

Clinical synopsis from OMIM:

251450

Symptoms:

49 (show all 28)
  • proptosis/exophthalmos
  • glaucoma
  • depressed nasal bridge
  • anteverted nares/nostrils
  • short neck
  • flared chest/bell-shaped thorax/shield chest
  • absent/hypotonic/flaccid abdominal wall muscles
  • camptodactyly of some fingers
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • advanced bone age
  • metaphyseal anomaly
  • hyperextensible joints/articular hyperlaxity
  • patella dislocation
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • blue sclerae
  • long/thick/curved lashes/trichomegaly/polytrichia
  • low set ears/posteriorly rotated ears
  • scoliosis
  • radioulnar synostosis
  • small hand/acromicria
  • clinodactyly of fifth finger
  • genu recurvatum
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • ventricular septal defect/interventricular communication
  • elbow dislocation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana

Drugs & Therapeutics for Desbuquois Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Desbuquois Syndrome

Drug clinical trials:

Search ClinicalTrials for Desbuquois Syndrome

Search NIH Clinical Center for Desbuquois Syndrome

Search CenterWatch for Desbuquois Syndrome

Genetic Tests for Desbuquois Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Desbuquois Syndrome:

id Genetic test Affiliating Genes
1 Desbuquois Dysplasia20 CANT1
2 Desbuquois Syndrome22

Anatomical Context for Desbuquois Syndrome

Animal Models for Desbuquois Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Desbuquois Syndrome

Sources:
51PubMed
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Articles related to Desbuquois Syndrome:

idTitleAuthorsYear
1
Desbuquois syndrome in three sisters with significantly different lengths of survival. (16642505)
2006
2
Use of CobraPLA for airway management in a neonate with Desbuquois syndrome. Case report and anesthetic implications. (15960646)
2005
3
Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family. (14629506)
2003
4
Pathological case of the month: Desbuquois syndrome. (11483130)
2001
5
Desbuquois syndrome in an Arab Bedouin family. (9001812)
1996
6
Desbuquois syndrome: three further cases and review of the literature. (7606320)
1995
7
Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis. (8074147)
1994
8
Desbuquois syndrome: clinical, radiographic, and morphologic characterization. (7977470)
1994
9
Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age. (1437369)
1992
10
Desbuquois syndrome. (1959544)
1991

Genetic Variations for Desbuquois Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Desbuquois Syndrome:

63 (show all 11)
id Symbol AA change Variation SNP ID
1CANT1p.Pro299LeuVAR_062980
2CANT1p.Arg300CysVAR_062981
3CANT1p.Arg300HisVAR_062982
4CANT1p.Asp112GluVAR_068655
5CANT1p.Trp125CysVAR_068656
6CANT1p.Met165ThrVAR_068657
7CANT1p.Leu224ProVAR_068658rs150181226
8CANT1p.Val226MetVAR_068659
9CANT1p.Ser303ArgVAR_068660
10CANT1p.Ala360AspVAR_068662
11CANT1p.Ile374AsnVAR_068663

Expression for genes affiliated with Desbuquois Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Desbuquois Syndrome

Search GEO for disease gene expression data for Desbuquois Syndrome.

Pathways for genes affiliated with Desbuquois Syndrome

Compounds for genes affiliated with Desbuquois Syndrome

GO Terms for genes affiliated with Desbuquois Syndrome

Products for genes affiliated with Desbuquois Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Desbuquois Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet