DBQD1
MCID: DSB006
MIFTS: 48

Desbuquois Dysplasia 1 (DBQD1)

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

Aliases & Classifications for Desbuquois Dysplasia 1

MalaCards integrated aliases for Desbuquois Dysplasia 1:

Name: Desbuquois Dysplasia 1 57 73 29 6 71
Desbuquois Syndrome 57 74 20 58 73 36 6 71
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 57 73
Desbuquois Dysplasia 20 58
Dbqd1 57 73
Dbqd 20 58
Micromelic Dwarfism, Narrow Chest, Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 20
Dysplasia, Desbuquois, Type 1 39
Joint Instability 44

Characteristics:

Orphanet epidemiological data:

58
desbuquois syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal;

OMIM®:

57 (Updated 05-Mar-2021)
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:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Desbuquois Dysplasia 1

OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Desbuquois Dysplasia 1, also known as desbuquois syndrome, is related to desbuquois dysplasia and desbuquois dysplasia 2, and has symptoms including waddling gait 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 Anti-Inflammatory Agents and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related phenotypes are intellectual disability and short neck

GARD : 20 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 gene CANT1. 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.

KEGG : 36 Desbuquois syndrome is an autosomal recessive chondrodysplasia. Highly characteristic appearance of proximal femur, called 'Swedish key', is reported in the disease. Mutations in the calcium-activated nucleotidase 1 gene (CANT1) and xylosyltransferase 1 (XYLT1) have been identified.

UniProtKB/Swiss-Prot : 73 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 : 74 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 top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 desbuquois dysplasia 31.1 XYLT1 LOC102723692 CANT1
2 desbuquois dysplasia 2 31.0 XYLT1 LOC102723692
3 scoliosis 29.7 XYLT1 CANT1
4 odontochondrodysplasia 29.2 XYLT1 CANT1
5 joint laxity, familial 11.5
6 catel-manzke syndrome 11.0
7 bone dysplasia, lethal, holmgren type 11.0
8 osteoarthritis 10.4
9 diastrophic dysplasia 10.3
10 epiphyseal dysplasia, multiple, 7 10.2
11 cerebral palsy 10.1
12 exostosis 10.1
13 achondrogenesis 10.1
14 plica syndrome 10.1
15 neuroma 10.1
16 synovitis 10.1
17 dwarfism 10.1
18 hip subluxation 10.0
19 cornelia de lange syndrome 1 10.0
20 coxa vara 10.0
21 chromosome 2q35 duplication syndrome 10.0
22 atelosteogenesis, type ii 10.0
23 achondrogenesis, type ib 10.0
24 atelosteogenesis 10.0
25 open-angle glaucoma 10.0
26 respiratory failure 10.0
27 cornelia de lange syndrome 10.0
28 multiple epiphyseal dysplasia 10.0
29 spondylosis 10.0
30 growth hormone deficiency 10.0
31 skeletal dysplasias 10.0
32 overgrowth syndrome 10.0
33 chordoma 9.9
34 creatinine clearance quantitative trait locus 9.9
35 spastic cerebral palsy 9.9
36 ehlers-danlos syndrome 9.9
37 ulnar neuropathy 9.9
38 hypermobile ehlers-danlos syndrome 9.9
39 bunion 9.9
40 back pain 9.9
41 lateral meningocele syndrome 9.8
42 galactorrhea 9.8
43 arts syndrome 9.8
44 marshall-smith syndrome 9.8
45 seizures, scoliosis, and macrocephaly/microcephaly syndrome 9.8
46 brachydactyly 9.8
47 osteoblastoma 9.8
48 cardiac arrest 9.8
49 fibrous dysplasia 9.8
50 meningocele 9.8

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



Diseases related to Desbuquois Dysplasia 1

Symptoms & Phenotypes for Desbuquois Dysplasia 1

Human phenotypes related to Desbuquois Dysplasia 1:

58 31 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
2 short neck 58 31 very rare (1%) Very frequent (99-80%) HP:0000470
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
5 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
6 aplasia/hypoplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0010318
7 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
8 patellar dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002999
9 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
10 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
11 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
12 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
13 disproportionate short-limb short stature 58 31 very rare (1%) Very frequent (99-80%) HP:0008873
14 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
15 bell-shaped thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0001591
16 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
17 genu recurvatum 58 31 frequent (33%) Frequent (79-30%) HP:0002816
18 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
19 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
20 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
21 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
22 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
23 coxa valga 58 31 frequent (33%) Frequent (79-30%) HP:0002673
24 coxa vara 58 31 frequent (33%) Frequent (79-30%) HP:0002812
25 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
26 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
27 sparse hair 31 frequent (33%) HP:0008070
28 abnormal eyelash morphology 31 frequent (33%) HP:0000499
29 hyperlordosis 31 very rare (1%) HP:0003307
30 smooth philtrum 31 very rare (1%) HP:0000319
31 intrauterine growth retardation 31 very rare (1%) HP:0001511
32 obesity 31 very rare (1%) HP:0001513
33 joint laxity 31 very rare (1%) HP:0001388
34 neonatal respiratory distress 31 very rare (1%) HP:0002643
35 long philtrum 31 very rare (1%) HP:0000343
36 malar flattening 31 very rare (1%) HP:0000272
37 narrow chest 31 very rare (1%) HP:0000774
38 microretrognathia 31 very rare (1%) HP:0000308
39 round face 31 very rare (1%) HP:0000311
40 radial deviation of the 2nd finger 31 very rare (1%) HP:0009467
41 concave nasal ridge 31 very rare (1%) HP:0011120
42 kyphosis 31 HP:0002808
43 pes planus 31 HP:0001763
44 short nose 31 HP:0003196
45 osteoporosis 31 HP:0000939
46 myopia 31 HP:0000545
47 abnormality of the eyelashes 58 Frequent (79-30%)
48 waddling gait 31 HP:0002515
49 motor delay 31 HP:0001270
50 talipes equinovarus 31 HP:0001762

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
kyphosis
platyspondyly
sagittal cleft
coronal cleft
more
Skeletal Feet:
pes planus
sandal gap
advanced tarsal ossification
medial deviation of the foot
short metatarsals
more
Skeletal:
osteoporosis
joint laxity
joint dislocations
osteoarthritis, progressive

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

Skeletal Limbs:
genu varum
radioulnar dislocation
proximal fibular overgrowth
'monkey wrench' appearance of the femoral heads
short wide femoral neck
more
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)

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

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

Head And Neck Neck:
short neck

Head And Neck Nose:
short nose
flat nasal bridge

Growth Weight:
obesity

Skeletal Hands:
brachydactyly
short metacarpals
short first metacarpal
phalangeal dislocations
radial deviation of the fingers
more
Head And Neck Face:
microretrognathia
round face
midface hypoplasia

Head And Neck Mouth:
microstomia

Chest External Features:
narrow thorax

Chest Ribs Sternum Clavicles And Scapulae:
widened anterior ribs

Clinical features from OMIM®:

251450 (Updated 05-Mar-2021)

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):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Inflammatory Agents Phase 1
2 Pharmaceutical Solutions Phase 1
3 Mitogens Phase 1
4 Interleukin 1 Receptor Antagonist Protein Phase 1
5
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474
6
Zinc oxide Approved 1314-13-2
7
Zinc Approved, Investigational 7440-66-6 32051
8
Benzoyl peroxide Approved 94-36-0 7187
9
Tocopherol Approved, Investigational 1406-66-2
10
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
11
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
12
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
13 Tocotrienol Investigational 6829-55-6
14 Vitamin B Complex
15 Vitamin B2
16 Folate
17 Vitamin B9
18 Photosensitizing Agents
19 Anesthetics
20 Analgesics, Opioid
21 Dermatologic Agents
22 Tea
23 Nutrients
24 Micronutrients
25 Trace Elements
26 Vitamins
27 Protective Agents
28 Antioxidants
29 Tocotrienols
30 Tocopherols
31 Astragalus

Interventional clinical trials:

(show top 50) (show all 74)
# Name Status NCT ID Phase Drugs
1 A Randomized, Prospective Comparison of Stainless Steel and Bioabsorbable Screw Fixation of Lisfranc Foot Injuries Completed NCT00689962 Phase 4
2 Effects Of Rehabilitation Incorporating Gait Training On Clinical Measures Associated With Chronic Ankle Instability Completed NCT02533037 Phase 2, Phase 3
3 Intraarticular Application of Autologous Conditioned Serum (ACS/Orthokine) Reduces Bone Tunnel Widening After ACL Reconstructive Surgery A Prospective, Randomized, Saline-controlled, Patient- and Observer-blinded, Parallel-design Trial Completed NCT01037738 Phase 1
4 The Role of Neuromuscular Electrical Stimulation (NMES) on Improving Function in Individuals With Chronic Ankle Instability Recruiting NCT04322409 Phase 1
5 Comparison of Dynamic Knee Stability and Functional Outcomes in Anatomical Single-bundle ACL at Anteromedial or Central Tunnel Position - Prospective, Randomized and Double-blind Clinical Trial in Athletes Unknown status NCT02074917
6 Morphologic and Biomechanical Analysis of the Carpal Ligaments: a Kinematic Study on Dynamic Area Detector CT Unknown status NCT02401568
7 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Unknown status NCT03575182
8 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Riboflavin
9 Operative Treatment of Traumatic Anteroinferior Shoulder Instability in Young Male Patients. The Outcome of Arthroscopic Bankart vs. Open Latarjet Stabilization Surgery, a Randomized Controlled Trial. Unknown status NCT01998048
10 Influence of Taping on Postural Control in Subjects With Chronic Ankle Instability (CAI). Unknown status NCT01733433
11 The Influence of Dual Task and Gait Speed on Gait Variability in Patients With Chronic Ankle Instability - a Case-control Study Unknown status NCT02745834
12 The Effectiveness of Combined Manipulation and Rehabilitation Versus Rehabilitation Only, in the Management of Chronic Ankle Instability Unknown status NCT01196949
13 The Effect of Balance Training on Neuromuscular Control in Subjects With CAI Unknown status NCT03439930
14 A Single-Blinded Randomized Controlled Trial Comparing Modified Brostrӧm Procedure With and Without Diagnostic Arthroscopy for Treatment of Lateral Ankle Instability Unknown status NCT02470338
15 Analytic and Functional Evaluation After Surgical Treatment Using an Original Arthroscopic Trillat Technique in Patients With Chronic Anterior Shoulder Instability Unknown status NCT03200262
16 Gait Adaptations to Passive Dynamic Ankle-Foot Orthosis Use Completed NCT00115401
17 Arthroscopic Versus Open Stabilization of Traumatic Unidirectional Anterior Shoulder Instability: A Randomized Clinical Trial Completed NCT00251264
18 Latarjet Procedure: Comparative Outcomes Study of Arthroscopic Versus Mini-open Approach With Minimum 2-year Follow-up Completed NCT02505932
19 A Multi-Site Evaluation of the Pain Relief, Support, Fit and Comfort From Use of a Custom Knee or Ankle Brace in Persons Suffering From Chronic Ankle or Knee Pain and Instability Completed NCT02682654
20 Surgical Treatment of Pelvic Joint Instability in Patients With Severe Pelvic Girdle Pain After Pregnancy and Trauma - A Study to Measure Effect of Surgery, Analysis of Clinical Tests and Detection of Sacroiliac Instability Using RSA. Completed NCT00900601
21 Short-Term and Long-Term Effects of Ankle Joint Taping and Bandaging on Balance, Proprioception and Vertical Jump Among Volleyball Players With Chronic Ankle Instability Completed NCT04377269
22 Effectiveness of Two Balance Training Protocols on Static and Dynamic Balance, Proprioception, Range of Motion, and Pain in Athletes With Chronic Ankle Instability: A Randomized Comparative Study Completed NCT04599985
23 Does Shoulder Stabilizations Stabilize Shoulders? Completed NCT02725333
24 A Study of Association Between Hypermobility And Chronic MusculoSkeletal Pain:a Pilot Study Completed NCT01032863
25 The Effect of Balance Training in People With Functional Ankle Instability Completed NCT01157663
26 Outcomes of the Modified-Brostrom Procedure Using Suture Anchor for Chronic Lateral Ankle Instability - A Prospective, Randomized Comparison With the Bone Tunnel Technique Completed NCT01056055
27 The Effect of Hydrotherapy and Land-based Rehabilitation Program Combined With Ankle Taping on Ankle Functional Ability and Re-injury Rate in Athletes With Chronic Ankle Instability Completed NCT01298856
28 Validation of a Kinematic Functional Shoulder Score Including Only Essential Movements Completed NCT01431417
29 A Study to Assess Benign Joint Hypermobility Syndrome in Children With a History of Wheezing or Asthma Completed NCT02163096
30 Validity and Reliability of a Smartphone Application for Assessing Balance in Patients With Chronic Ankle Instability Completed NCT03598985
31 Comparison of Joint Mobility Levels and Performance in Young Male Basketball Players and Sedentary Peers Completed NCT03825003
32 Evaluating Physiological Markers of Emotional Trauma: A Randomized Controlled Comparison of Mind-Body Therapies Completed NCT00526266
33 Neuromuscular Mechanisms of Manual Therapies in Chronic Ankle Instability Patients Completed NCT03418051
34 Chronıc Ankle Instabılıty And Assocıated Factors Completed NCT04064502
35 Effects of a Multi-Pathway Dietary Supplement (Stem Cell 100+) on Indices of Health and Life Expectancy Completed NCT03052491
36 Is Hamstring Flexibility Affected in Chronic Ankle Instability Completed NCT04083391
37 Development of a Smartphone-based System for Training Subjects With Chronic Ankle Instability and Training Effect Evaluation Completed NCT03849547
38 Efficacy of Platelet-rich Plasma in the Treatment of Chronic Lateral Ankle Instability Completed NCT03197428
39 The Effects of Two Techniques of Mobilization in the Improvement of Dorsiflexion on Chronic Instability Ankles. A Double Blind Randomized Controlled Trial Completed NCT01618032
40 Assessment of Gastric Motility on Funtional Dyspepsia and Joint Hypermobility Syndrome Completed NCT04279990
41 Combined Prospective / Retrospective, Open, Non-randomized, Non-interventional Post Market Clinical Follow-Up of the BPK-S Integration System (Co28Cr6Mo) Used for Primary Total Knee Replacement Completed NCT03406637
42 Factors Associated With Full Recovery After Surgical Repair of Shoulder Instability - Cross Sectional Study Completed NCT02978365
43 Cross Education Effect of Balance Program in Patients With Ankle Instability Completed NCT04072965
44 Intraoperative Stability Assessment of the First Carpometacarpal Joint Completed NCT03687775
45 Medial and Lateral Combined Ligament Arthroscopic Repair for Multidirectional Ankle Instability: Case Series Completed NCT04459910
46 Opioid-Free Intravenous Anesthesia for Patients With Joint Hypermobility Syndrome Undergoing Craneo-Cervical Fixation: A Case-series Study Focused on Anti-hyperalgesic Approach Completed NCT04437589
47 Immediate and Long-term Effects of Gait Training With Functional Electrical Stimulation in Subjects With Chronic Ankle Instability Recruiting NCT04314960
48 Prospektive, Klinische Verlaufsuntersuchung (Post Market Follow-Up) Der primären Knieendoprothese BPK-S Integration Recruiting NCT02615522
49 Prospective, Multicenter, Observational, Comparative Clinical Trial on the Equivalence of Two Different OrthoPilot® Navigation System Generations Applied for Computer-assisted Total Knee Arthroplasty Recruiting NCT03817632
50 Does Surgery Followed by Physiotherapy Improve Short and Long Term Outcomes for Patients With Atraumatic Shoulder Instability Compared With Physiotherapy Alone? Recruiting NCT01751490

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 29 CANT1

Anatomical Context for Desbuquois Dysplasia 1

MalaCards organs/tissues related to Desbuquois Dysplasia 1:

40
Eye, Bone

Publications for Desbuquois Dysplasia 1

Articles related to Desbuquois Dysplasia 1:

(show all 44)
# Title Authors PMID Year
1
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. 61 6 57
31988067 2020
2
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. 57 6
22539336 2012
3
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. 57 6
21654728 2011
4
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. 57 6
21412251 2011
5
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. 6 57
21037275 2011
6
Mutation of CANT1 causes Desbuquois dysplasia. 6 57
20425819 2010
7
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. 57 6
20358597 2010
8
A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign. 57 6
20358610 2010
9
Identification of CANT1 mutations in Desbuquois dysplasia. 57 6
19853239 2009
10
Desbuquois syndrome: three further cases and review of the literature. 61 57
7606320 1995
11
Desbuquois syndrome: clinical, radiographic, and morphologic characterization. 61 57
7977470 1994
12
Desbuquois syndrome. 61 57
1959544 1991
13
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. 6
30554721 2019
14
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. 6
28742282 2017
15
XYLT1 mutations in Desbuquois dysplasia type 2. 6
24581741 2014
16
The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. 6
23982343 2014
17
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay. 6
22711505 2012
18
A novel syndrome resembling Desbuquois dysplasia. 57
15558723 2005
19
Clinical and genetic heterogeneity in Desbuquois dysplasia. 57
15211652 2004
20
Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients. 57
14679587 2004
21
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations. 57
14679586 2004
22
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. 57
12676900 2003
23
A mild variant of Desbuquois dysplasia. 57
10378396 1999
24
A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia? 57
8956941 1996
25
Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: another observation. 57
2499194 1989
26
Chondrodystrophic dwarfism and multiple malformations in two sisters. 57
3222061 1988
27
A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age. 57
3993680 1985
28
A syndrome of short stature, joint laxity and developmental delay. 57
7172474 1982
29
[Bone dysplasia with dwarfism and diffuse skeletal alterations]. 57
1080993 1975
30
[Larsen's syndrome: congenital dislocation of the knees and other joints, distinctive facies, and, frequently, cleft palate]. 57
5047653 1972
31
Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. 61
28462984 2017
32
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. 61
20830804 2010
33
Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature. 61
19918492 2009
34
Desbuquois syndrome in three sisters with significantly different lengths of survival. 61
16642505 2006
35
Use of CobraPLA for airway management in a neonate with Desbuquois syndrome. Case report and anesthetic implications. 61
15960646 2005
36
Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family. 61
14629506 2003
37
Pathological case of the month: Desbuquois syndrome. 61
11483130 2001
38
[Desbuquois syndrome]. 61
11462563 2001
39
Lethality in Desbuquois dysplasia: three new cases. 61
11200998 2001
40
Desbuquois syndrome in an Arab Bedouin family. 61
9001812 1996
41
Single-strand conformation polymorphism analysis of human decorin, biglycan and fibromodulin cDNAs. 61
7827753 1994
42
Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis. 61
8074147 1994
43
Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age. 61
1437369 1992
44
A new skeletal dysplasia: clinical, radiologic, and pathologic findings. 61
3761078 1986

Variations for Desbuquois Dysplasia 1

ClinVar genetic disease variations for Desbuquois Dysplasia 1:

6 (show top 50) (show all 176)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CANT1 5'UTR-exon 1 deletion (2703 bp) Deletion Pathogenic 277 17:79009664-79009817
2 CANT1 NM_001159773.2(CANT1):c.734del (p.Pro245fs) Deletion Pathogenic 278 rs587776509 17:76991201-76991201 17:78995119-78995119
3 CANT1 NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys) SNV Pathogenic 279 rs267606701 17:76989940-76989940 17:78993858-78993858
4 CANT1 NM_001159773.2(CANT1):c.899G>A (p.Arg300His) SNV Pathogenic 280 rs267606699 17:76989939-76989939 17:78993857-78993857
5 CANT1 NM_001159773.2(CANT1):c.909_910insGCCGC (p.Gln304fs) Insertion Pathogenic 281 rs587776510 17:76989928-76989929 17:78993846-78993847
6 CANT1 NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter) SNV Pathogenic 282 rs267606702 17:76993331-76993331 17:78997249-78997249
7 CANT1 NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu) SNV Pathogenic 283 rs267606700 17:76989942-76989942 17:78993860-78993860
8 CANT1 NM_001159773.2(CANT1):c.897_901GCGCC[3] (p.Ser303fs) Microsatellite Pathogenic 31013 rs587776895 17:76989931-76989932 17:78993849-78993850
9 CANT1 NM_001159773.2(CANT1):c.277_278del (p.Leu93fs) Deletion Pathogenic 31015 rs587776897 17:76993427-76993428 17:78997345-78997346
10 CANT1 NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro) SNV Pathogenic 31016 rs150181226 17:76991264-76991264 17:78995182-78995182
11 CANT1 NM_001159773.2(CANT1):c.375G>C (p.Trp125Cys) SNV Pathogenic 31017 rs587776898 17:76993330-76993330 17:78997248-78997248
12 CANT1 NM_001159773.2(CANT1):c.676G>A (p.Val226Met) SNV Pathogenic 31018 rs377546036 17:76991259-76991259 17:78995177-78995177
13 CANT1 NM_001159773.2(CANT1):c.1079C>A (p.Ala360Asp) SNV Pathogenic 31019 rs387907081 17:76989759-76989759 17:78993677-78993677
14 CANT1 NM_001159773.2(CANT1):c.-147+1G>A SNV Pathogenic 41426 rs587776951 17:77005745-77005745 17:79009663-79009663
15 XYLT1 NM_022166.4(XYLT1):c.1321C>T (p.Arg441Ter) SNV Pathogenic 958408 16:17252735-17252735 16:17158878-17158878
16 LOC102723692 NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer) Duplication Pathogenic 426319 rs1085307563 16:17232242-17232243 16:17138385-17138386
17 XYLT1 NM_022166.4(XYLT1):c.1290-1G>A SNV Pathogenic 619184 rs1567300982 16:17252767-17252767 16:17158910-17158910
18 XYLT1 NM_022166.4(XYLT1):c.281_306del (p.Gln94fs) Deletion Pathogenic 619183 rs1567215615 16:17564348-17564373 16:17470491-17470516
19 XYLT1 NW_019805500.1:g.472169CCG[(100-833)] Microsatellite Pathogenic 619182 16:472169-472169
20 XYLT1 NM_022166.4(XYLT1):c.319G>T (p.Gly107Ter) SNV Pathogenic 619181 rs1567215600 16:17564335-17564335 16:17470478-17470478
21 LOC102723692 NC_000016.10:g.(?_17108675)_(17470816_?)del Deletion Pathogenic 541800 16:17202532-17564673 16:17108675-17470816
22 XYLT1 NM_022166.4(XYLT1):c.276dup (p.Pro93fs) Duplication Pathogenic 127237 rs587777369 16:17564377-17564378 16:17470520-17470521
23 XYLT1 NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter) SNV Pathogenic 127236 rs587777368 16:17353319-17353319 16:17259462-17259462
24 LOC102723692 NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) SNV Pathogenic 127235 rs587777367 16:17228565-17228565 16:17134708-17134708
25 XYLT1 NM_022166.4(XYLT1):c.1441C>T (p.Arg481Trp) SNV Pathogenic 127234 rs587777366 16:17235156-17235156 16:17141299-17141299
26 CANT1 NM_001159773.2(CANT1):c.643G>A (p.Glu215Lys) SNV Pathogenic 808323 rs773215035 17:76991292-76991292 17:78995210-78995210
27 XYLT1 NM_022166.4(XYLT1):c.1290-2A>C SNV Pathogenic 127239 rs587777370 16:17252768-17252768 16:17158911-17158911
28 CANT1 NM_001159773.2(CANT1):c.228dup (p.Trp77fs) Duplication Likely pathogenic 31014 rs587776896 17:76993476-76993477 17:78997394-78997395
29 CANT1 NM_001159773.2(CANT1):c.551C>T (p.Thr184Met) SNV Likely pathogenic 523074 rs770371904 17:76993154-76993154 17:78997072-78997072
30 CANT1 NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val) SNV Likely pathogenic 548509 rs372631124 17:76989726-76989726 17:78993644-78993644
31 LOC102723692 NM_022166.4(XYLT1):c.1588-3C>T SNV Conflicting interpretations of pathogenicity 127238 rs201818754 16:17232391-17232391 16:17138534-17138534
32 XYLT1 NM_022166.4(XYLT1):c.1217G>A (p.Arg406Gln) SNV Uncertain significance 541798 rs1457612277 16:17292141-17292141 16:17198284-17198284
33 CANT1 NM_001159773.2(CANT1):c.433G>T (p.Val145Leu) SNV Uncertain significance 325703 rs140112462 17:76993272-76993272 17:78997190-78997190
34 CANT1 NM_001159773.2(CANT1):c.-23+94T>G SNV Uncertain significance 325709 rs867691817 17:76993828-76993828 17:78997746-78997746
35 CANT1 NM_001159773.2(CANT1):c.*919C>G SNV Uncertain significance 325679 rs777105575 17:76988713-76988713 17:78992631-78992631
36 XYLT1 NM_022166.4(XYLT1):c.830G>T (p.Arg277Leu) SNV Uncertain significance 572688 rs751753807 16:17352928-17352928 16:17259071-17259071
37 LOC102723692 NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) SNV Uncertain significance 573227 rs139179946 16:17232220-17232220 16:17138363-17138363
38 CANT1 NM_001159773.2(CANT1):c.643G>T (p.Glu215Ter) SNV Uncertain significance 631792 rs773215035 17:76991292-76991292 17:78995210-78995210
39 XYLT1 NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg) SNV Uncertain significance 639251 rs760732431 16:17564515-17564515 16:17470658-17470658
40 LOC102723692 NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln) SNV Uncertain significance 652797 rs1275156523 16:17228375-17228375 16:17134518-17134518
41 LOC102723692 NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys) SNV Uncertain significance 662990 rs573652692 16:17228367-17228367 16:17134510-17134510
42 CANT1 NM_001159773.2(CANT1):c.916C>T (p.Arg306Cys) SNV Uncertain significance 325698 rs569632479 17:76989922-76989922 17:78993840-78993840
43 CANT1 NM_001159773.2(CANT1):c.*57G>A SNV Uncertain significance 325695 rs886053525 17:76989575-76989575 17:78993493-78993493
44 CANT1 NM_001159773.2(CANT1):c.-81G>A SNV Uncertain significance 325713 rs886053530 17:76993980-76993980 17:78997898-78997898
45 CANT1 NM_001159773.2(CANT1):c.*1264_*1265dup Duplication Uncertain significance 325672 rs886053521 17:76988366-76988367 17:78992284-78992285
46 CANT1 NM_001159773.2(CANT1):c.*223C>T SNV Uncertain significance 325692 rs886053524 17:76989409-76989409 17:78993327-78993327
47 CANT1 NM_001159773.2(CANT1):c.-146-15C>T SNV Uncertain significance 325716 rs886053531 17:76994060-76994060 17:78997978-78997978
48 CANT1 NM_001159773.2(CANT1):c.*550A>C SNV Uncertain significance 325688 rs886053522 17:76989082-76989082 17:78993000-78993000
49 CANT1 NM_001159773.2(CANT1):c.*89G>A SNV Uncertain significance 325694 rs146866436 17:76989543-76989543 17:78993461-78993461
50 CANT1 NM_001159773.2(CANT1):c.*301C>T SNV Uncertain significance 325691 rs576222698 17:76989331-76989331 17:78993249-78993249

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

73 (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

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

Biological processes related to Desbuquois Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteoglycan biosynthetic process GO:0030166 8.62 XYLT1 CANT1

Sources for Desbuquois Dysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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