DBQD
MCID: DSB001
MIFTS: 39

Desbuquois Syndrome (DBQD) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Desbuquois Syndrome

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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 multiple epiphyseal dysplasia, and has symptoms including clinodactyly of fifth finger, elbow dislocation and ventricular septal defect/interventricular communication. An important gene associated with Desbuquois Syndrome is CANT1 (calcium activated nucleotidase 1). The compound heparin have been mentioned in the context of this disorder. Affiliated tissues include bone.

Description from OMIM:47 251450,300881,615777

Aliases & Classifications for Desbuquois Syndrome

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43NIH Rare Diseases, 22GTR, 49Orphanet, 62UMLS, 20GeneTests, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


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 62
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 Orphanet59 254099008
UMLS via Orphanet63 C0432242

Related Diseases for Desbuquois Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Desbuquois Syndrome family:

Desbuquois Dysplasia 2

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

idRelated DiseaseScoreTop Affiliating Genes
1diastrophic dysplasia10.3
2multiple epiphyseal dysplasia10.2
3cervicitis10.1
4dwarfism10.1
5desbuquois dysplasia 210.1

Graphical network of diseases related to Desbuquois Syndrome:



Diseases related to desbuquois syndrome

Symptoms for Desbuquois Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

251450

Clinical features from OMIM:

251450,300881,615777

Symptoms:

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

Drugs & Therapeutics for Desbuquois Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Desbuquois Syndrome

Search NIH Clinical Center for Desbuquois Syndrome

Genetic Tests for Desbuquois Syndrome

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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

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33MalaCards
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MalaCards organs/tissues related to Desbuquois Syndrome:

33
Bone

Animal Models for Desbuquois Syndrome or affiliated genes

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Publications for Desbuquois Syndrome

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Sources:
52PubMed
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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

Variations for Desbuquois Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Desbuquois Syndrome:

64 (show all 11)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Desbuquois Syndrome:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1CANT15'UTR-exon 1 deletion (2703 bp)deletionPathogenicGRCh38Chr 17, 79009664: 79009817
2CANT1NM_001159772.1(CANT1): c.734delC (p.Pro245Argfs)deletionPathogenicGRCh37Chr 17, 76991201: 76991201
3CANT1NM_001159772.1(CANT1): c.898C> T (p.Arg300Cys)single nucleotide variantPathogenicrs267606701GRCh37Chr 17, 76989940: 76989940
4CANT1NM_001159772.1(CANT1): c.899G> A (p.Arg300His)single nucleotide variantPathogenicrs267606699GRCh37Chr 17, 76989939: 76989939
5CANT1NM_001159772.1(CANT1): c.909_910insGCCGC (p.Gln304Alafs)insertionPathogenicGRCh37Chr 17, 76989928: 76989929
6CANT1NM_001159772.1(CANT1): c.374G> A (p.Trp125Ter)single nucleotide variantPathogenicrs267606702GRCh37Chr 17, 76993331: 76993331
7CANT1NM_001159772.1(CANT1): c.896C> T (p.Pro299Leu)single nucleotide variantPathogenicrs267606700GRCh37Chr 17, 76989942: 76989942
8CANT1NM_001159772.1(CANT1): c.902_906dupGCGCC (p.Ser303Alafs)duplicationPathogenicGRCh37Chr 17, 76989932: 76989936
9CANT1NM_001159772.1(CANT1): c.228dupC (p.Trp77Leufs)duplicationPathogenicGRCh37Chr 17, 76993477: 76993477
10CANT1NM_001159772.1(CANT1): c.277_278delCT (p.Leu93Valfs)deletionPathogenicGRCh37Chr 17, 76993427: 76993428
11CANT1NM_001159772.1(CANT1): c.671T> C (p.Leu224Pro)single nucleotide variantPathogenicrs150181226GRCh37Chr 17, 76991264: 76991264
12CANT1NM_001159772.1(CANT1): c.375G> C (p.Trp125Cys)single nucleotide variantPathogenicGRCh37Chr 17, 76993330: 76993330
13CANT1NM_001159772.1(CANT1): c.676G> A (p.Val226Met)single nucleotide variantPathogenicrs377546036GRCh37Chr 17, 76991259: 76991259
14CANT1NM_001159772.1(CANT1): c.1079C> A (p.Ala360Asp)single nucleotide variantPathogenicrs387907081GRCh37Chr 17, 76989759: 76989759
15CANT1NM_001159772.1(CANT1): c.-286+1G> Asingle nucleotide variantPathogenicGRCh37Chr 17, 77005745: 77005745

Expression for genes affiliated with Desbuquois Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Desbuquois Syndrome

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Pathways for genes affiliated with Desbuquois Syndrome

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Compounds for genes affiliated with Desbuquois Syndrome

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Sources:
45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Desbuquois Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparin45 29 24 1112.1XYLT1, CANT1

GO Terms for genes affiliated with Desbuquois Syndrome

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16Gene Ontology
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Cellular components related to Desbuquois Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of membraneGO:0160219.1XYLT1, CANT1
2endoplasmic reticulum membraneGO:0057898.8XYLT1, CANT1

Products for genes affiliated with Desbuquois Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Desbuquois Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet