DBQD
MCID: DSB001
MIFTS: 32

Desbuquois Syndrome (DBQD) malady

Bone diseases, Fetal diseases categories

Summaries for Desbuquois Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 blue sclerae, long/thick/curved lashes/trichomegaly/polytrichia and low set ears/posteriorly rotated ears. An important gene associated with Desbuquois Syndrome is CANT1 (calcium activated nucleotidase 1). Affiliated tissues include bone.

Description from OMIM:46 251450,300881

Aliases & Classifications for Desbuquois Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 48Orphanet, 60UMLS, 20GeneTests, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
desbuquois dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

desbuquois syndrome 42 22 48 60
desbuquois dysplasia 42 20 46 48
micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification 42
dbqd 42


External Ids:

MESH via Orphanet35 C535943
ICD10 via Orphanet26 Q78.8
SNOMED-CT via Orphanet57 254099008
UMLS via Orphanet61 C0432242

Related Diseases for Desbuquois Syndrome

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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
2multiple epiphyseal dysplasia10.1
3multiple epiphyseal dysplasia, recessive10.1
4cervicitis10.1
5dwarfism10.1

Graphical network of diseases related to Desbuquois Syndrome:



Diseases related to desbuquois syndrome

Clinical Features for Desbuquois Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

251450,300881

Clinical synopsis from OMIM:

251450

Symptoms:

48 (show all 28)
  • 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
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • patella dislocation
  • 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
  • proptosis/exophthalmos

Drugs & Therapeutics for Desbuquois Syndrome

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Sources:
5CenterWatch, 41NIH 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

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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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32MalaCards
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MalaCards organs/tissues related to Desbuquois Syndrome:

32
Bone

Animal Models for Desbuquois Syndrome or affiliated genes

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Publications for Desbuquois Syndrome

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Genetic Variations for Desbuquois Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Desbuquois Syndrome:

62 (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

Expression for genes affiliated with Desbuquois Syndrome

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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

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Compounds for genes affiliated with Desbuquois Syndrome

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GO Terms for genes affiliated with Desbuquois Syndrome

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Products for genes affiliated with Desbuquois Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Desbuquois Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet