MCID: DSB006
MIFTS: 33

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 54 71 29 69
Desbuquois Syndrome 71 69
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 71
Joint Instability 42
Dbqd1 71

Characteristics:

OMIM:

54
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:

32
desbuquois dysplasia 1:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Desbuquois Dysplasia 1

OMIM : 54
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 scoliosis, brachydactyly and myopia. An important gene associated with Desbuquois Dysplasia 1 is CANT1 (Calcium Activated Nucleotidase 1). The drugs Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include bone and eye.

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.

Related Diseases for Desbuquois Dysplasia 1

Diseases in the Desbuquois Dysplasia family:

Desbuquois Dysplasia 2 Desbuquois Dysplasia 1

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

(show all 16)
id Related Disease Score Top Affiliating Genes
1 desbuquois dysplasia 11.6
2 joint laxity, familial 11.3
3 desbuquois dysplasia 2 10.9
4 catel-manzke syndrome 10.8
5 bone dysplasia, lethal, holmgren type 10.8
6 cervicitis 9.7
7 dwarfism 9.7
8 osteoarthritis 9.7
9 ulnar neuropathy 9.5
10 poliomyelitis 9.5
11 neuropathy 9.5
12 synovial chondromatosis 9.5
13 lateral meningocele syndrome 9.5
14 meningocele 9.5
15 hypermobility syndrome 9.5
16 neuroma 9.5

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:

54

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

Skeletal- Pelvis:
coxa valga
coxa vara
flat acetabular roof
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
midface hypoplasia
microretrognathia

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

Head And Neck- Neck:
short neck

Skeletal- Feet:
pes planus
sandal gap
advanced tarsal ossification
short metatarsals
phalangeal dislocations
more
Growth- Weight:
obesity

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

Skeletal- Hands:
brachydactyly
short metacarpals
short first metacarpal
advanced carpal bone age
phalangeal dislocations
more
Growth- Height:
short stature, disproportionate
dwarfism, short-limb, prenatal onset
average adult height 114 cm

Skeletal:
joint laxity
osteoporosis
joint dislocations
osteoarthritis, progressive

Skeletal- Limbs:
genu varum
wide metaphyses
flat epiphyses
radioulnar dislocation
proximal fibular overgrowth

Head And Neck- Mouth:
microstomia

Chest- External Features:
narrow thorax

Chest- Ribs Sternum Clavicles And Scapulae:
widened anterior ribs


Clinical features from OMIM:

251450

Human phenotypes related to Desbuquois Dysplasia 1:

32 (show top 50) (show all 68)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 frequent (33%) HP:0002650
2 brachydactyly 32 HP:0001156
3 myopia 32 HP:0000545
4 depressed nasal bridge 32 hallmark (90%) HP:0005280
5 coxa valga 32 frequent (33%) HP:0002673
6 round face 32 HP:0000311
7 proptosis 32 hallmark (90%) HP:0000520
8 joint laxity 32 HP:0001388
9 platyspondyly 32 HP:0000926
10 kyphosis 32 HP:0002808
11 glaucoma 32 hallmark (90%) HP:0000501
12 short nose 32 HP:0003196
13 anteverted nares 32 hallmark (90%) HP:0000463
14 osteoporosis 32 HP:0000939
15 elbow dislocation 32 frequent (33%) HP:0003042
16 genu varum 32 HP:0002970
17 talipes equinovarus 32 HP:0001762
18 short neck 32 hallmark (90%) HP:0000470
19 narrow chest 32 HP:0000774
20 intellectual disability 32 hallmark (90%) HP:0001249
21 ventricular septal defect 32 frequent (33%) HP:0001629
22 microretrognathia 32 HP:0000308
23 waddling gait 32 HP:0002515
24 motor delay 32 HP:0001270
25 midface retrusion 32 HP:0011800
26 radioulnar synostosis 32 frequent (33%) HP:0002974
27 osteoarthritis 32 HP:0002758
28 coxa vara 32 frequent (33%) HP:0002812
29 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
30 pes planus 32 HP:0001763
31 joint hyperflexibility 32 hallmark (90%) HP:0005692
32 hyperlordosis 32 HP:0003307
33 obesity 32 HP:0001513
34 flat acetabular roof 32 HP:0003180
35 sandal gap 32 HP:0001852
36 muscular hypotonia 32 HP:0001252
37 bell-shaped thorax 32 hallmark (90%) HP:0001591
38 hypotrichosis 32 frequent (33%) HP:0001006
39 broad femoral neck 32 HP:0006429
40 metaphyseal widening 32 HP:0003016
41 blue sclerae 32 frequent (33%) HP:0000592
42 short femoral neck 32 HP:0100864
43 malar flattening 32 HP:0000272
44 advanced tarsal ossification 32 HP:0008108
45 genu recurvatum 32 frequent (33%) HP:0002816
46 patellar dislocation 32 hallmark (90%) HP:0002999
47 short metatarsal 32 HP:0010743
48 narrow mouth 32 HP:0000160
49 small hand 32 frequent (33%) HP:0200055
50 congenital glaucoma 32 HP:0001087

UMLS symptoms related to Desbuquois Dysplasia 1:


joint laxity, waddling gait

Drugs & Therapeutics for Desbuquois Dysplasia 1

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


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

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Desbuquois Dysplasia 1 29

Anatomical Context for Desbuquois Dysplasia 1

MalaCards organs/tissues related to Desbuquois Dysplasia 1:

39
Bone, Eye

Publications for Desbuquois Dysplasia 1

Variations for Desbuquois Dysplasia 1

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

71 (show all 11)
id 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 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 CANT1 NM_001159772.1(CANT1): c.909_910insGCCGC (p.Gln304Alafs) insertion Pathogenic rs587776510 GRCh38 Chromosome 17, 78993846: 78993847
2 CANT1 5'UTR-exon 1 deletion (2703 bp) deletion Pathogenic GRCh38 Chromosome 17, 79009664: 79009817
3 CANT1 NM_001159772.1(CANT1): c.734delC (p.Pro245Argfs) deletion Pathogenic rs587776509 GRCh37 Chromosome 17, 76991201: 76991201
4 CANT1 NM_001159772.1(CANT1): c.898C> T (p.Arg300Cys) single nucleotide variant Pathogenic rs267606701 GRCh37 Chromosome 17, 76989940: 76989940
5 CANT1 NM_001159772.1(CANT1): c.899G> A (p.Arg300His) single nucleotide variant Pathogenic rs267606699 GRCh37 Chromosome 17, 76989939: 76989939
6 CANT1 NM_001159772.1(CANT1): c.374G> A (p.Trp125Ter) single nucleotide variant Pathogenic rs267606702 GRCh37 Chromosome 17, 76993331: 76993331
7 CANT1 NM_001159772.1(CANT1): c.896C> T (p.Pro299Leu) single nucleotide variant Pathogenic rs267606700 GRCh37 Chromosome 17, 76989942: 76989942
8 CANT1 NM_001159772.1(CANT1): c.228dupC (p.Trp77Leufs) duplication Pathogenic rs587776896 GRCh38 Chromosome 17, 78997395: 78997395
9 CANT1 NM_001159772.1(CANT1): c.902_906dupGCGCC (p.Ser303Alafs) duplication Pathogenic rs587776895 GRCh37 Chromosome 17, 76989932: 76989936
10 CANT1 NM_001159772.1(CANT1): c.277_278delCT (p.Leu93Valfs) deletion Pathogenic rs587776897 GRCh37 Chromosome 17, 76993427: 76993428
11 CANT1 NM_001159772.1(CANT1): c.671T> C (p.Leu224Pro) single nucleotide variant Pathogenic rs150181226 GRCh37 Chromosome 17, 76991264: 76991264
12 CANT1 NM_001159772.1(CANT1): c.375G> C (p.Trp125Cys) single nucleotide variant Pathogenic rs587776898 GRCh37 Chromosome 17, 76993330: 76993330
13 CANT1 NM_001159772.1(CANT1): c.676G> A (p.Val226Met) single nucleotide variant Pathogenic rs377546036 GRCh37 Chromosome 17, 76991259: 76991259
14 CANT1 NM_001159772.1(CANT1): c.1079C> A (p.Ala360Asp) single nucleotide variant Pathogenic rs387907081 GRCh37 Chromosome 17, 76989759: 76989759
15 CANT1 NM_001159772.1(CANT1): c.-286+1G> A single nucleotide variant Pathogenic rs587776951 GRCh37 Chromosome 17, 77005745: 77005745
16 CANT1 NM_001159772.1(CANT1): c.278delT (p.Leu93Argfs) deletion Pathogenic rs767601069 GRCh37 Chromosome 17, 76993427: 76993427
17 CANT1 NM_001159772.1(CANT1): c.836-9G> A single nucleotide variant Likely pathogenic rs538543007 GRCh37 Chromosome 17, 76990011: 76990011

Expression for Desbuquois Dysplasia 1

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

Pathways for Desbuquois Dysplasia 1

GO Terms for Desbuquois Dysplasia 1

Sources for Desbuquois Dysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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