MCID: DSB006
MIFTS: 39

Desbuquois Dysplasia 1

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Desbuquois Dysplasia 1

MalaCards integrated aliases for Desbuquois Dysplasia 1:

Name: Desbuquois Dysplasia 1 53 71 28 69
Desbuquois Syndrome 53 72 49 55 71 36 69
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 53 71
Desbuquois Dysplasia 49 55
Dbqd1 53 71
Dbqd 49 55
Micromelic Dwarfism, Narrow Chest, Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 49
Joint Instability 41

Characteristics:

Orphanet epidemiological data:

55
desbuquois syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
apparent at birth
highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence
patients can be divided into 2 groups based on whether typical hand anomalies are present


HPO:

31
desbuquois dysplasia 1:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Desbuquois Dysplasia 1

OMIM : 53 Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009). Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). (251450)

MalaCards based summary : Desbuquois Dysplasia 1, also known as desbuquois syndrome, is related to desbuquois dysplasia and joint laxity, familial, and has symptoms including short neck, intellectual disability and scoliosis. An important gene associated with Desbuquois Dysplasia 1 is CANT1 (Calcium Activated Nucleotidase 1), and among its related pathways/superpathways are Purine metabolism and Pyrimidine metabolism. The drugs Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include bone and eye.

NIH Rare Diseases : 49 Desbuquois syndrome (DBQD) 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, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial characteristics and other abnormalities.Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has been described in 7 patients originating from Korea and Japan, and is characterized by short stature, joint and minor facial anomalies, together with significant hand anomalies with short bones in the hands, long fingers and advanced bone age. DBQD type 1 and Kim variant are caused by mutations in the geneCANT1.  Some cases of DBQD type 2 are caused by mutations in the gene XYLT1 but in other cases the cause is unknown. It is inherited in an autosomal recessive manner. Type 1 can be associated with severe respiratory problems. Treatment for the condition is geared towards the signs and symptoms present in each individual. Last updated: 9/18/2015

UniProtKB/Swiss-Prot : 71 Desbuquois dysplasia 1: A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations.

Wikipedia : 72 Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they... more...

Related Diseases for Desbuquois Dysplasia 1

Diseases in the Desbuquois Dysplasia family:

Desbuquois Dysplasia 1 Desbuquois Dysplasia 2

Diseases related to Desbuquois Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 desbuquois dysplasia 30.8 CANT1 XYLT1
2 joint laxity, familial 11.7
3 desbuquois dysplasia 2 11.0
4 bone dysplasia, lethal, holmgren type 10.9
5 catel-manzke syndrome 10.9
6 aging 9.8
7 cervicitis 9.8
8 dwarfism 9.8
9 osteoarthritis with mild chondrodysplasia 9.8
10 osteoarthritis 9.8
11 lateral meningocele syndrome 9.6
12 episodic pain syndrome, familial, 1 9.6
13 meningocele 9.6
14 hypermobility syndrome 9.6
15 neuroma 9.6
16 ulnar neuropathy 9.6
17 poliomyelitis 9.6
18 neuropathy 9.6
19 synovial chondromatosis 9.6

Graphical network of the top 20 diseases related to Desbuquois Dysplasia 1:



Diseases related to Desbuquois Dysplasia 1

Symptoms & Phenotypes for Desbuquois Dysplasia 1

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
waddling gait
hypotonia
delayed motor development
mental retardation (in some)

Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
kyphosis
platyspondyly
sagittal cleft
coronal cleft
more
Head And Neck Nose:
short nose
flat nasal bridge

Skeletal Hands:
brachydactyly
short metacarpals
short first metacarpal
phalangeal dislocations
radial deviation of the fingers
more
Skeletal Limbs:
genu varum
radioulnar dislocation
flat epiphyses
wide metaphyses
proximal fibular overgrowth

Head And Neck Mouth:
microstomia

Growth Height:
short stature, disproportionate
dwarfism, short-limb, prenatal onset
average adult height 114 cm

Skeletal:
joint laxity
osteoporosis
joint dislocations
osteoarthritis, progressive

Growth Weight:
obesity

Skeletal Feet:
pes planus
sandal gap
advanced tarsal ossification
short metatarsals
phalangeal dislocations
more
Skeletal Pelvis:
coxa valga
flat acetabular roof
coxa vara
elevated greater trochanter
'swedish key' proximal femur (flat proximal femoral metaphysis with medial spike and exaggerated lesser tuberosity)
more
Head And Neck Face:
round face
microretrognathia
midface hypoplasia

Head And Neck Eyes:
congenital glaucoma
bulging eyes
prominent eyes
myopia, apparent with age

Chest External Features:
narrow thorax

Chest RibsSternum Clavicles And Scapulae:
widened anterior ribs


Clinical features from OMIM:

251450

Human phenotypes related to Desbuquois Dysplasia 1:

55 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
4 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 aplasia/hypoplasia of the abdominal wall musculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0010318
7 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
8 coxa valga 55 31 frequent (33%) Frequent (79-30%) HP:0002673
9 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
10 genu recurvatum 55 31 frequent (33%) Frequent (79-30%) HP:0002816
11 abnormality of the eyelashes 55 31 frequent (33%) Frequent (79-30%) HP:0000499
12 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
13 small hand 55 31 frequent (33%) Frequent (79-30%) HP:0200055
14 glaucoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000501
15 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
16 hypotrichosis 55 31 frequent (33%) Frequent (79-30%) HP:0001006
17 elbow dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0003042
18 ventricular septal defect 55 31 frequent (33%) Frequent (79-30%) HP:0001629
19 patellar dislocation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002999
20 severe short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003510
21 radioulnar synostosis 55 31 frequent (33%) Frequent (79-30%) HP:0002974
22 disproportionate short-limb short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0008873
23 proptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000520
24 camptodactyly of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0100490
25 coxa vara 55 31 frequent (33%) Frequent (79-30%) HP:0002812
26 blue sclerae 55 31 frequent (33%) Frequent (79-30%) HP:0000592
27 accelerated skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0005616
28 bell-shaped thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0001591
29 waddling gait 31 HP:0002515
30 joint laxity 31 HP:0001388
31 malar flattening 31 HP:0000272
32 obesity 31 HP:0001513
33 osteoarthritis 31 HP:0002758
34 kyphosis 31 HP:0002808
35 hyperlordosis 31 HP:0003307
36 pes planus 31 HP:0001763
37 short nose 31 HP:0003196
38 osteoporosis 31 HP:0000939
39 narrow chest 31 HP:0000774
40 platyspondyly 31 HP:0000926
41 myopia 31 HP:0000545
42 narrow mouth 31 HP:0000160
43 brachydactyly 31 HP:0001156
44 sandal gap 31 HP:0001852
45 round face 31 HP:0000311
46 flattened epiphysis 31 HP:0003071
47 talipes equinovarus 31 HP:0001762
48 genu varum 31 HP:0002970
49 midface retrusion 31 HP:0011800
50 flat acetabular roof 31 HP:0003180

UMLS symptoms related to Desbuquois Dysplasia 1:


waddling gait

Drugs & Therapeutics for Desbuquois Dysplasia 1

Drugs for Desbuquois Dysplasia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Neuroserpin
2 Astragalus Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Disease Gene Identification Unknown status NCT00916903

Search NIH Clinical Center for Desbuquois Dysplasia 1

Cochrane evidence based reviews: joint instability

Genetic Tests for Desbuquois Dysplasia 1

Genetic tests related to Desbuquois Dysplasia 1:

# Genetic test Affiliating Genes
1 Desbuquois Dysplasia 1 28 CANT1

Anatomical Context for Desbuquois Dysplasia 1

MalaCards organs/tissues related to Desbuquois Dysplasia 1:

38
Bone, Eye

Publications for Desbuquois Dysplasia 1

Articles related to Desbuquois Dysplasia 1:

# Title Authors Year
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 Dysplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Desbuquois Dysplasia 1:

71 (show all 11)
# Symbol AA change Variation ID SNP ID
1 CANT1 p.Pro299Leu VAR_062980 rs267606700
2 CANT1 p.Arg300Cys VAR_062981 rs267606701
3 CANT1 p.Arg300His VAR_062982 rs267606699
4 CANT1 p.Asp112Glu VAR_068655 rs749246739
5 CANT1 p.Trp125Cys VAR_068656 rs587776898
6 CANT1 p.Met165Thr VAR_068657
7 CANT1 p.Leu224Pro VAR_068658 rs150181226
8 CANT1 p.Val226Met VAR_068659 rs377546036
9 CANT1 p.Ser303Arg VAR_068660
10 CANT1 p.Ala360Asp VAR_068662 rs387907081
11 CANT1 p.Ile374Asn VAR_068663

ClinVar genetic disease variations for Desbuquois Dysplasia 1:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 CANT1 NM_001159772.1(CANT1): c.228dupC (p.Trp77Leufs) duplication Pathogenic rs587776896 GRCh38 Chromosome 17, 78997395: 78997395
2 CANT1 NM_001159772.1(CANT1): c.277_278delCT (p.Leu93Valfs) deletion Pathogenic rs587776897 GRCh37 Chromosome 17, 76993427: 76993428
3 CANT1 NM_001159772.1(CANT1): c.902_906dupGCGCC (p.Ser303Alafs) duplication Pathogenic rs587776895 GRCh37 Chromosome 17, 76989932: 76989936
4 CANT1 NM_001159772.1(CANT1): c.671T> C (p.Leu224Pro) single nucleotide variant Pathogenic rs150181226 GRCh37 Chromosome 17, 76991264: 76991264
5 CANT1 NM_001159772.1(CANT1): c.375G> C (p.Trp125Cys) single nucleotide variant Pathogenic rs587776898 GRCh37 Chromosome 17, 76993330: 76993330
6 CANT1 NM_001159772.1(CANT1): c.676G> A (p.Val226Met) single nucleotide variant Pathogenic rs377546036 GRCh37 Chromosome 17, 76991259: 76991259
7 CANT1 NM_001159772.1(CANT1): c.1079C> A (p.Ala360Asp) single nucleotide variant Pathogenic rs387907081 GRCh37 Chromosome 17, 76989759: 76989759
8 CANT1 NM_001159772.1(CANT1): c.-286+1G> A single nucleotide variant Pathogenic rs587776951 GRCh37 Chromosome 17, 77005745: 77005745
9 CANT1 NM_001159772.1(CANT1): c.278delT (p.Leu93Argfs) deletion Pathogenic rs767601069 GRCh37 Chromosome 17, 76993427: 76993427
10 CANT1 NM_001159772.1(CANT1): c.836-9G> A single nucleotide variant Likely pathogenic rs538543007 GRCh37 Chromosome 17, 76990011: 76990011
11 CANT1 5'UTR-exon 1 deletion (2703 bp) deletion Pathogenic GRCh38 Chromosome 17, 79009664: 79009817
12 CANT1 NM_001159772.1(CANT1): c.734delC (p.Pro245Argfs) deletion Pathogenic rs587776509 GRCh37 Chromosome 17, 76991201: 76991201
13 CANT1 NM_001159772.1(CANT1): c.898C> T (p.Arg300Cys) single nucleotide variant Pathogenic rs267606701 GRCh37 Chromosome 17, 76989940: 76989940
14 CANT1 NM_001159772.1(CANT1): c.899G> A (p.Arg300His) single nucleotide variant Pathogenic rs267606699 GRCh37 Chromosome 17, 76989939: 76989939
15 CANT1 NM_001159772.1(CANT1): c.909_910insGCCGC (p.Gln304Alafs) insertion Pathogenic rs587776510 GRCh37 Chromosome 17, 76989928: 76989929
16 CANT1 NM_001159772.1(CANT1): c.374G> A (p.Trp125Ter) single nucleotide variant Pathogenic rs267606702 GRCh37 Chromosome 17, 76993331: 76993331
17 CANT1 NM_001159772.1(CANT1): c.896C> T (p.Pro299Leu) single nucleotide variant Pathogenic rs267606700 GRCh37 Chromosome 17, 76989942: 76989942
18 XYLT1 NM_022166.3(XYLT1): c.343G> T (p.Ala115Ser) single nucleotide variant risk factor rs61758388 GRCh37 Chromosome 16, 17564311: 17564311

Expression for Desbuquois Dysplasia 1

Search GEO for disease gene expression data for Desbuquois Dysplasia 1.

Pathways for Desbuquois Dysplasia 1

Pathways related to Desbuquois Dysplasia 1 according to KEGG:

36
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 Pyrimidine metabolism hsa00240
3 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532
4 Glycosaminoglycan biosynthesis - heparan sulfate / heparin hsa00534

GO Terms for Desbuquois Dysplasia 1

Cellular components related to Desbuquois Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.16 CANT1 XYLT1
2 Golgi apparatus GO:0005794 8.96 CANT1 XYLT1
3 endoplasmic reticulum membrane GO:0005789 8.62 CANT1 XYLT1

Sources for Desbuquois Dysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....