Desbuquois Dysplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Desbuquois Dysplasia

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46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 22GTR, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Desbuquois Dysplasia:

Name: Desbuquois Dysplasia 46 9 42 20 48
Desbuquois Syndrome 42 48 22 61
Micromelic Dwarfism, Narrow Chest, Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 42
Dbqd 42


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM46 251450
Orphanet48 1425
MESH via Orphanet34 C535943
ICD10 via Orphanet26 Q78.8
UMLS via Orphanet62 C0432242

Summaries for Desbuquois Dysplasia

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OMIM:46 Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and... (251450) more...

MalaCards based summary: Desbuquois Dysplasia, also known as desbuquois syndrome, is related to diastrophic dysplasia and desbuquois dysplasia 2, and has symptoms including anteverted nares, short neck and glaucoma. An important gene associated with Desbuquois Dysplasia is CANT1 (calcium activated nucleotidase 1), and among its related pathways is MPS VI - Maroteaux-Lamy syndrome. The compounds cysteine and heparin have been mentioned in the context of this disorder. Affiliated tissues include bone.

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

Related Diseases for Desbuquois Dysplasia

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Diseases in the Desbuquois Dysplasia family:

Desbuquois Dysplasia 2

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

idRelated DiseaseScoreTop Affiliating Genes
1diastrophic dysplasia30.2SLC26A2, CANT1
2desbuquois dysplasia 210.5
3multiple epiphyseal dysplasia10.2

Graphical network of diseases related to Desbuquois Dysplasia:

Diseases related to desbuquois dysplasia

Symptoms for Desbuquois Dysplasia

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (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

HPO human phenotypes related to Desbuquois Dysplasia:

(show all 78)
id Description Frequency HPO Source Accession
1 anteverted nares hallmark (90%) HP:0000463
2 short neck hallmark (90%) HP:0000470
3 glaucoma hallmark (90%) HP:0000501
4 proptosis hallmark (90%) HP:0000520
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 joint hypermobility hallmark (90%) HP:0001382
7 abnormality of the femur hallmark (90%) HP:0002823
8 patellar dislocation hallmark (90%) HP:0002999
9 short stature hallmark (90%) HP:0004322
10 depressed nasal bridge hallmark (90%) HP:0005280
11 accelerated skeletal maturation hallmark (90%) HP:0005616
12 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
13 camptodactyly of finger hallmark (90%) HP:0100490
14 cognitive impairment hallmark (90%) HP:0100543
15 enlarged thorax hallmark (90%) HP:0100625
16 low-set, posteriorly rotated ears typical (50%) HP:0000368
17 abnormality of the eyelashes typical (50%) HP:0000499
18 blue sclerae typical (50%) HP:0000592
19 ventricular septal defect typical (50%) HP:0001629
20 scoliosis typical (50%) HP:0002650
21 genu recurvatum typical (50%) HP:0002816
22 radioulnar synostosis typical (50%) HP:0002974
23 elbow dislocation typical (50%) HP:0003042
24 abnormality of the hip bone typical (50%) HP:0003272
25 clinodactyly of the 5th finger typical (50%) HP:0004209
26 short palm typical (50%) HP:0004279
27 abnormal hair quantity typical (50%) HP:0011362
28 autosomal recessive inheritance HP:0000007
29 narrow mouth HP:0000160
30 malar flattening HP:0000272
31 microretrognathia HP:0000308
32 round face HP:0000311
33 short neck HP:0000470
34 proptosis HP:0000520
35 myopia HP:0000545
36 narrow chest HP:0000774
37 platyspondyly HP:0000926
38 osteoporosis HP:0000939
39 congenital glaucoma HP:0001087
40 intellectual disability HP:0001249
41 muscular hypotonia HP:0001252
42 motor delay HP:0001270
43 joint dislocation HP:0001373
44 joint laxity HP:0001388
45 obesity HP:0001513
46 talipes equinovarus HP:0001762
47 pes planus HP:0001763
48 sandal gap HP:0001852
49 waddling gait HP:0002515
50 scoliosis HP:0002650
51 coxa valga HP:0002673
52 osteoarthritis HP:0002758
53 kyphosis HP:0002808
54 coxa vara HP:0002812
55 genu varum HP:0002970
56 metaphyseal widening HP:0003016
57 flattened epiphyses HP:0003071
58 flat acetabular roof HP:0003180
59 short nose HP:0003196
60 hyperlordosis HP:0003307
61 severe short stature HP:0003510
62 variable expressivity HP:0003828
63 advanced ossification of carpal bones HP:0004233
64 proximal fibular overgrowth HP:0005067
65 depressed nasal bridge HP:0005280
66 phalangeal dislocations HP:0006243
67 broad femoral neck HP:0006429
68 radioulnar dislocation HP:0006439
69 medial deviation of the foot HP:0008082
70 advanced tarsal ossification HP:0008108
71 disproportionate short-limb short stature HP:0008873
72 bifid distal phalanx of the thumb HP:0009611
73 short 1st metacarpal HP:0010034
74 broad first metatarsal HP:0010068
75 partial duplication of the distal phalanx of the hallux HP:0010097
76 short metatarsal HP:0010743
77 midface retrusion HP:0011800
78 short femoral neck HP:0100864

Drugs & Therapeutics for Desbuquois Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Desbuquois Dysplasia

Search NIH Clinical Center for Desbuquois Dysplasia

Genetic Tests for Desbuquois Dysplasia

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Genetic tests related to Desbuquois Dysplasia:

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

Anatomical Context for Desbuquois Dysplasia

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MalaCards organs/tissues related to Desbuquois Dysplasia:


Animal Models for Desbuquois Dysplasia or affiliated genes

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Publications for Desbuquois Dysplasia

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Articles related to Desbuquois Dysplasia:

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. (21037275)
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. (21654728)
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. (21412251)
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. (20358597)
Mutation of CANT1 causes Desbuquois dysplasia. (20425819)
Identification of CANT1 mutations in Desbuquois dysplasia. (19853239)
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. (18925670)
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)
Clinical and genetic heterogeneity in Desbuquois dysplasia. (15211652)
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. (12676900)

Variations for Desbuquois Dysplasia

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UniProtKB/Swiss-Prot genetic disease variations for Desbuquois Dysplasia:

63 (show all 11)
id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Desbuquois Dysplasia:

5 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1XYLT1NM_022166.3(XYLT1): c.1441C> T (p.Arg481Trp)single nucleotide variantPathogenicGRCh38Chr 16, 17141299: 17141299
2XYLT1NM_022166.3(XYLT1): c.1792C> T (p.Arg598Cys)single nucleotide variantPathogenicGRCh38Chr 16, 17134708: 17134708
3XYLT1NM_022166.3(XYLT1): c.439C> T (p.Arg147Ter)single nucleotide variantPathogenicGRCh38Chr 16, 17259462: 17259462
4XYLT1NM_022166.3(XYLT1): c.276dupG (p.Pro93Alafs)duplicationPathogenicGRCh38Chr 16, 17470521: 17470521
5XYLT1NM_022166.3(XYLT1): c.1588-3C> Tsingle nucleotide variantPathogenicrs201818754GRCh37Chr 16, 17232391: 17232391
6XYLT1NM_022166.3(XYLT1): c.1290-2A> Csingle nucleotide variantPathogenicGRCh38Chr 16, 17158911: 17158911
7CANT15'UTR-exon 1 deletion (2703 bp)deletionPathogenicGRCh38Chr 17, 79009664: 79009817
8CANT1NM_001159772.1(CANT1): c.734delC (p.Pro245Argfs)deletionPathogenicGRCh37Chr 17, 76991201: 76991201
9CANT1NM_001159772.1(CANT1): c.898C> T (p.Arg300Cys)single nucleotide variantPathogenicrs267606701GRCh37Chr 17, 76989940: 76989940
10CANT1NM_001159772.1(CANT1): c.899G> A (p.Arg300His)single nucleotide variantPathogenicrs267606699GRCh37Chr 17, 76989939: 76989939
11CANT1NM_001159772.1(CANT1): c.909_910insGCCGC (p.Gln304Alafs)insertionPathogenicGRCh37Chr 17, 76989928: 76989929
12CANT1NM_001159772.1(CANT1): c.374G> A (p.Trp125Ter)single nucleotide variantPathogenicrs267606702GRCh37Chr 17, 76993331: 76993331
13CANT1NM_001159772.1(CANT1): c.896C> T (p.Pro299Leu)single nucleotide variantPathogenicrs267606700GRCh37Chr 17, 76989942: 76989942
14CANT1NM_001159772.1(CANT1): c.902_906dupGCGCC (p.Ser303Alafs)duplicationPathogenicGRCh37Chr 17, 76989932: 76989936
15CANT1NM_001159772.1(CANT1): c.228dupC (p.Trp77Leufs)duplicationPathogenicGRCh37Chr 17, 76993477: 76993477
16CANT1NM_001159772.1(CANT1): c.277_278delCT (p.Leu93Valfs)deletionPathogenicGRCh37Chr 17, 76993427: 76993428
17CANT1NM_001159772.1(CANT1): c.671T> C (p.Leu224Pro)single nucleotide variantPathogenicrs150181226GRCh37Chr 17, 76991264: 76991264
18CANT1NM_001159772.1(CANT1): c.375G> C (p.Trp125Cys)single nucleotide variantPathogenicGRCh37Chr 17, 76993330: 76993330
19CANT1NM_001159772.1(CANT1): c.676G> A (p.Val226Met)single nucleotide variantPathogenicrs377546036GRCh37Chr 17, 76991259: 76991259
20CANT1NM_001159772.1(CANT1): c.1079C> A (p.Ala360Asp)single nucleotide variantPathogenicrs387907081GRCh37Chr 17, 76989759: 76989759
21CANT1NM_001159772.1(CANT1): c.-286+1G> Asingle nucleotide variantPathogenicGRCh37Chr 17, 77005745: 77005745

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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Compounds for genes affiliated with Desbuquois Dysplasia

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44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Desbuquois Dysplasia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1cysteine449.3SLC26A2, CANT1
2heparin44 28 24 1111.7XYLT1, CANT1

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
1endoplasmic reticulum membraneGO:00057899.0XYLT1, CANT1

Sources for Desbuquois Dysplasia

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet