DBQD
MCID: DSB001
MIFTS: 39

Desbuquois Syndrome (DBQD) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
Download this MalaCard

Summaries for Desbuquois Syndrome

About this section


Fully expand this MalaCard
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 based summary: Desbuquois Syndrome, also known as desbuquois dysplasia, is related to diastrophic dysplasia and multiple epiphyseal dysplasia, and has symptoms including proptosis/exophthalmos, glaucoma and depressed nasal bridge. 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.

Descriptions from OMIM:46 251450,300881,615777

Aliases & Classifications for Desbuquois Syndrome

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Desbuquois Syndrome, Aliases & Descriptions:

Name: Desbuquois Syndrome 42 22 48 62
Desbuquois Dysplasia 42 20 46 48 62
 
Micromelic Dwarfism, Narrow Chest, Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 42
Dbqd 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

MESH via Orphanet35 C535943
ICD10 via Orphanet26 Q78.8
UMLS via Orphanet63 C0432242

Related Diseases for Desbuquois Syndrome

About this section

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

About this section

Symptoms by clinical synopsis from OMIM:

251450

Clinical features from OMIM:

251450,300881,615777

Symptoms:

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 Syndrome:

(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 Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Desbuquois Syndrome

Search NIH Clinical Center for Desbuquois Syndrome

Genetic Tests for Desbuquois Syndrome

About this section

Genetic tests related to Desbuquois Syndrome:

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

Anatomical Context for Desbuquois Syndrome

About this section

MalaCards organs/tissues related to Desbuquois Syndrome:

32
Bone

Animal Models for Desbuquois Syndrome or affiliated genes

About this section

Publications for Desbuquois Syndrome

About this section

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

About this section

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:

6 (show all 21)
id Gene Name 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 Syndrome

About this section
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

About this section

Compounds for genes affiliated with Desbuquois Syndrome

About this section
Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
See all sources

Compounds related to Desbuquois Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparin44 28 24 1112.1XYLT1, CANT1

GO Terms for genes affiliated with Desbuquois Syndrome

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Desbuquois Syndrome

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet