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 56 73 29 6 71
Desbuquois Syndrome 56 74 52 58 73 36 6 71
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 56 73
Desbuquois Dysplasia 52 58
Dbqd1 56 73
Dbqd 52 58
Micromelic Dwarfism, Narrow Chest, Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 52
Dysplasia, Desbuquois, Type 1 39
Joint Instability 43

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 : 56 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 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 Acetaminophen and Morphine have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and testes, and related phenotypes are intellectual disability and depressed nasal bridge

NIH Rare Diseases : 52 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 74)
# Related Disease Score Top Affiliating Genes
1 desbuquois dysplasia 31.4 XYLT1 LOC102723692 CANT1
2 desbuquois dysplasia 2 31.3 XYLT1 LOC102723692
3 scoliosis 29.5 XYLT1 CANT1
4 odontochondrodysplasia 29.1 XYLT1 CANT1
5 joint laxity, familial 12.1
6 catel-manzke syndrome 11.6
7 bone dysplasia, lethal, holmgren type 11.2
8 diastrophic dysplasia 10.4
9 epiphyseal dysplasia, multiple, 7 10.4
10 osteoarthritis 10.3
11 achondrogenesis 10.3
12 dwarfism 10.2
13 cornelia de lange syndrome 1 10.1
14 coxa vara 10.1
15 chromosome 2q35 duplication syndrome 10.1
16 atelosteogenesis, type ii 10.1
17 achondrogenesis, type ib 10.1
18 atelosteogenesis 10.1
19 open-angle glaucoma 10.1
20 respiratory failure 10.1
21 cornelia de lange syndrome 10.1
22 multiple epiphyseal dysplasia 10.1
23 spondylosis 10.1
24 growth hormone deficiency 10.1
25 skeletal dysplasias 10.1
26 overgrowth syndrome 10.1
27 cerebral palsy 10.1
28 exostosis 10.1
29 sleep apnea 10.0
30 plica syndrome 10.0
31 neuroma 10.0
32 synovitis 10.0
33 hypermobile ehlers-danlos syndrome 10.0
34 hip subluxation 10.0
35 chordoma 9.9
36 creatinine clearance quantitative trait locus 9.9
37 spastic cerebral palsy 9.9
38 ehlers-danlos syndrome 9.9
39 ulnar neuropathy 9.9
40 47,xyy 9.9
41 48,xyyy 9.9
42 bunion 9.9
43 back pain 9.9
44 lateral meningocele syndrome 9.7
45 galactorrhea 9.7
46 arts syndrome 9.7
47 marshall-smith syndrome 9.7
48 seizures, scoliosis, and macrocephaly/microcephaly syndrome 9.7
49 brachydactyly 9.7
50 osteoblastoma 9.7

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 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
5 aplasia/hypoplasia of the abdominal wall musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0010318
6 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
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 hallmark (90%) 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 frequent (33%) 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 muscular hypotonia 31 HP:0001252
30 kyphosis 31 HP:0002808
31 pes planus 31 HP:0001763
32 short nose 31 HP:0003196
33 hyperlordosis 31 HP:0003307
34 narrow mouth 31 HP:0000160
35 osteoporosis 31 HP:0000939
36 obesity 31 HP:0001513
37 myopia 31 HP:0000545
38 abnormality of the eyelashes 58 Frequent (79-30%)
39 waddling gait 31 HP:0002515
40 motor delay 31 HP:0001270
41 joint laxity 31 HP:0001388
42 talipes equinovarus 31 HP:0001762
43 hypotrichosis 58 Frequent (79-30%)
44 brachydactyly 31 HP:0001156
45 sandal gap 31 HP:0001852
46 platyspondyly 31 HP:0000926
47 malar flattening 31 HP:0000272
48 narrow chest 31 HP:0000774
49 osteoarthritis 31 HP:0002758
50 genu varum 31 HP:0002970

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

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

Skeletal Spine:
scoliosis
kyphosis
platyspondyly
sagittal cleft
coronal cleft
more
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

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 top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2
Morphine Approved, Investigational Phase 4 57-27-2 5288826
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
5
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
6
Codeine Approved, Illicit Phase 4 76-57-3 5284371
7
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
8
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
9
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
10
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
11 Anti-Inflammatory Agents Phase 4
12 Respiratory System Agents Phase 4
13 Hormones Phase 4
14 Antineoplastic Agents, Hormonal Phase 4
15 Narcotics Phase 4
16 Antitussive Agents Phase 4
17 Hormone Antagonists Phase 4
18 Analgesics, Opioid Phase 4
19 Analgesics Phase 4
20 Analgesics, Non-Narcotic Phase 4
21 Antiemetics Phase 4
22 Antipyretics Phase 4
23 Cyclooxygenase Inhibitors Phase 4
24 Hypnotics and Sedatives Phase 4
25 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
26 glucocorticoids Phase 4
27 Gastrointestinal Agents Phase 4
28 Antirheumatic Agents Phase 4
29 BB 1101 Phase 4
30 Anti-Inflammatory Agents, Non-Steroidal Phase 4
31 Anesthetics Phase 4
32 Insulin, Globin Zinc Phase 4
33 Sodium Channel Blockers Phase 4
34 Chlorhexidine gluconate Phase 4
35 Vasoconstrictor Agents Phase 4
36 Anti-Arrhythmia Agents Phase 4
37 insulin Phase 4
38 Triamcinolone diacetate Phase 4
39 Diuretics, Potassium Sparing Phase 4
40 triamcinolone acetonide Phase 4
41 Triamcinolone hexacetonide Phase 4
42 Anesthetics, Local Phase 4
43 Mitogens Phase 1
44 Pharmaceutical Solutions Phase 1
45 Interleukin 1 Receptor Antagonist Protein Phase 1
46
Progesterone Approved, Vet_approved 57-83-0 5994
47
Sulfamethazine Approved, Investigational, Vet_approved 57-68-1 5327
48
Glucosamine Approved, Investigational 3416-24-8 439213
49
Magnesium hydroxide Approved, Investigational 1309-42-8
50 Hops Approved

Interventional clinical trials:

(show top 50) (show all 101)
# Name Status NCT ID Phase Drugs
1 Comparison of Effects of Naproxen Sodium-codeine Phosphate in Combination, Naproxen Sodium + Single Dose Dexamethasone and Naproxen Sodium Alone on Pain and Trismus in Patients With Temporomandibular Disorder Completed NCT04066426 Phase 4 naproxen sodium+codeine phosphate, naproxen sodium+dexamethasone, naproxen sodium, paracetamol
2 A Randomized, Prospective Comparison of Stainless Steel and Bioabsorbable Screw Fixation of Lisfranc Foot Injuries Completed NCT00689962 Phase 4
3 Effectiveness of Triamcinolone Hexacetonide Intra-articular Injection in Interphalangeal Joints: a 12 Weeks Randomized Controlled Trial in Osteoarthritis Hand Patients Completed NCT02102620 Phase 4 Intra-articular injection with corticosteroid;Intra-articular injection with lidocaine
4 Effects Of Rehabilitation Incorporating Gait Training On Clinical Measures Associated With Chronic Ankle Instability Completed NCT02533037 Phase 2, Phase 3
5 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
6 The Role of Neuromuscular Electrical Stimulation (NMES) on Improving Function in Individuals With Chronic Ankle Instability Recruiting NCT04322409 Phase 1
7 The Effect of Balance Training on Neuromuscular Control in Subjects With CAI Unknown status NCT03439930
8 Morphologic and Biomechanical Analysis of the Carpal Ligaments: a Kinematic Study on Dynamic Area Detector CT Unknown status NCT02401568
9 The Influence of Dual Task and Gait Speed on Gait Variability in Patients With Chronic Ankle Instability - a Case-control Study Unknown status NCT02745834
10 The Effect of Estrogen and Progesterone Levels on Knee and Ankle Joint Laxity Unknown status NCT00005923
11 Influence of Taping on Postural Control in Subjects With Chronic Ankle Instability (CAI). Unknown status NCT01733433
12 Genetic Disease Gene Identification Unknown status NCT00916903
13 A Single-Blinded Randomized Controlled Trial Comparing Modified Brostrӧm Procedure With and Without Diagnostic Arthroscopy for Treatment of Lateral Ankle Instability Unknown status NCT02470338
14 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Riboflavin
15 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
16 A Prediction Model for Chronic Ankle Instability: Indications for Early Surgical Treatment? An Observational Prospective Cohort Unknown status NCT02955485
17 Dry Needling Effectiveness of Patients on Break Anterior Cruciate Ligament. Single-Blind Randomized Clinical Trial. Unknown status NCT02699411
18 Effectiveness of High-intensity Laser Therapy in Shoulder Osteoarthritis; a Prospective, Randomized, Controlled Study Unknown status NCT03385408
19 Does Arthroscopic Anatomic Repair of the Anterior Talofibular Ligament Provide Better Functional Outcome Compared to Open Anatomic Repair in Patients With Chronic Ankle Instability: a Multicentre Randomized Controlled Trial Unknown status NCT02998333
20 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
21 Tibia and Femoral Tunnel Location Comparison of Remnant Preserving Versus Remnant Resecting Anterior Cruciate Ligament Reconstruction Unknown status NCT02555917
22 A Comparative, Non Randomized Trial of Knee Osteoarthritis (OA) Project Treatment Versus Conventional Physical Therapy in the Treatment of Knee OA Patients Unknown status NCT01490606
23 The Effectiveness of Overhead Perturbation Training on Joint Position Sense in Patients With Functional Shoulder Instability: A Pilot Study With Blinded, Randomized Controlled Trial Design Unknown status NCT03380494
24 The Effect of Gravity on the Muscular Control of Landing From a Jump Unknown status NCT02563223
25 The Effectiveness of Combined Manipulation and Rehabilitation Versus Rehabilitation Only, in the Management of Chronic Ankle Instability Unknown status NCT01196949
26 Do Concomitant Subscapularis Tears in Large to Massive Rotator Cuff Tears Unknown status NCT03352180
27 Investigating the Potential for Marigot's Nutrition Supplement to Improve Symptoms and Physical Function in Those With Mild to Moderate Knee Osteoarthritis (KOA) Versus the Current Market Leader (Glucosamine Sulphate) Unknown status NCT03106584
28 Identification of Biochemical and Biomechanical Markers for Cartilage Degeneration in the Knee Joint (IBBM-CKJ) Unknown status NCT02555514
29 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
30 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
31 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
32 Comparison of Joint Mobility Levels and Performance in Young Male Basketball Players and Sedentary Peers Completed NCT03825003
33 Latarjet Procedure: Comparative Outcomes Study of Arthroscopic Versus Mini-open Approach With Minimum 2-year Follow-up Completed NCT02505932
34 The Effects of Two Techniques of Mobilization in the Improvement of Dorsiflexion on Chronic Instability Ankles. A Double Blind Randomized Controlled Trial Completed NCT01618032
35 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
36 Assessment of Gastric Motility on Funtional Dyspepsia and Joint Hypermobility Syndrome Completed NCT04279990
37 Chronıc Ankle Instabılıty And Assocıated Factors Completed NCT04064502
38 Is Hamstring Flexibility Affected in Chronic Ankle Instability Completed NCT04083391
39 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
40 The Effect of Balance Training in People With Functional Ankle Instability Completed NCT01157663
41 A Study of Association Between Hypermobility And Chronic MusculoSkeletal Pain:a Pilot Study Completed NCT01032863
42 A Study to Assess Benign Joint Hypermobility Syndrome in Children With a History of Wheezing or Asthma Completed NCT02163096
43 Development of a Smartphone-based System for Training Subjects With Chronic Ankle Instability and Training Effect Evaluation Completed NCT03849547
44 A Prospective Observational 5 Year Follow-up on a Historical Consecutive Cohort of 100 Primary Total Knee Arthroplasty (TKA) Cases Treated With the Posterior-stabilized VEGA System® PS Completed NCT02802085
45 Factors Associated With Full Recovery After Surgical Repair of Shoulder Instability - Cross Sectional Study Completed NCT02978365
46 Validation of a Kinematic Functional Shoulder Score Including Only Essential Movements Completed NCT01431417
47 Efficacy of Platelet-rich Plasma in the Treatment of Chronic Lateral Ankle Instability Completed NCT03197428
48 Progressive Heavy Shoulder Resistance Training for Patients With Hypermobility Spectrum Disorders and Shoulder Symptoms: a Feasibility Study Completed NCT03547570
49 Effects of a Multi-Pathway Dietary Supplement (Stem Cell 100+) on Indices of Health and Life Expectancy Completed NCT03052491
50 The Effects of Unilateral Balance Training on Bilateral Balance and Explosive Power Among Athletes With Chronic Ankle Instability Completed NCT04139044

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
Bone, Eye, Testes

Publications for Desbuquois Dysplasia 1

Articles related to Desbuquois Dysplasia 1:

(show all 44)
# Title Authors PMID Year
1
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. 56 6
22539336 2012
2
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. 6 56
21654728 2011
3
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. 6 56
21412251 2011
4
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. 6 56
21037275 2011
5
Mutation of CANT1 causes Desbuquois dysplasia. 6 56
20425819 2010
6
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. 56 6
20358597 2010
7
A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign. 56 6
20358610 2010
8
Identification of CANT1 mutations in Desbuquois dysplasia. 6 56
19853239 2009
9
Desbuquois syndrome: three further cases and review of the literature. 61 56
7606320 1995
10
Desbuquois syndrome: clinical, radiographic, and morphologic characterization. 61 56
7977470 1994
11
Desbuquois syndrome. 56 61
1959544 1991
12
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. 6
30554721 2019
13
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. 6
28742282 2017
14
XYLT1 mutations in Desbuquois dysplasia type 2. 6
24581741 2014
15
The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. 6
23982343 2014
16
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay. 6
22711505 2012
17
A novel syndrome resembling Desbuquois dysplasia. 56
15558723 2005
18
Clinical and genetic heterogeneity in Desbuquois dysplasia. 56
15211652 2004
19
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations. 56
14679586 2004
20
Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients. 56
14679587 2004
21
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. 56
12676900 2003
22
A mild variant of Desbuquois dysplasia. 56
10378396 1999
23
A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia? 56
8956941 1996
24
Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: another observation. 56
2499194 1989
25
Chondrodystrophic dwarfism and multiple malformations in two sisters. 56
3222061 1988
26
A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age. 56
3993680 1985
27
A syndrome of short stature, joint laxity and developmental delay. 56
7172474 1982
28
[Bone dysplasia with dwarfism and diffuse skeletal alterations]. 56
1080993 1975
29
[Larsen's syndrome: congenital dislocation of the knees and other joints, distinctive facies, and, frequently, cleft palate]. 56
5047653 1972
30
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. 61
31988067 2020
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 XYLT1 NC_000016.10:g.(?_17108675)_(17470816_?)deldeletion Pathogenic 541800 16:17202532-17564673 16:17108675-17470816
2 CANT1 NM_001159773.2(CANT1):c.734del (p.Pro245fs)deletion Pathogenic 278 rs587776509 17:76991201-76991201 17:78995119-78995119
3 CANT1 5'UTR-exon 1 deletion (2703 bp)deletion Pathogenic 277 17:79009664-79009817
4 CANT1 NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys)SNV Pathogenic 279 rs267606701 17:76989940-76989940 17:78993858-78993858
5 CANT1 NM_001159773.2(CANT1):c.899G>A (p.Arg300His)SNV Pathogenic 280 rs267606699 17:76989939-76989939 17:78993857-78993857
6 CANT1 NM_001159773.2(CANT1):c.909_910insGCCGC (p.Gln304fs)insertion Pathogenic 281 rs587776510 17:76989928-76989929 17:78993846-78993847
7 CANT1 NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter)SNV Pathogenic 282 rs267606702 17:76993331-76993331 17:78997249-78997249
8 CANT1 NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu)SNV Pathogenic 283 rs267606700 17:76989942-76989942 17:78993860-78993860
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>ASNV Pathogenic 41426 rs587776951 17:77005745-77005745 17:79009663-79009663
15 CANT1 NM_001159773.2(CANT1):c.897_901GCGCC[3] (p.Ser303fs)short repeat Pathogenic 31013 rs587776895 17:76989931-76989932 17:78993849-78993850
16 CANT1 NM_001159773.2(CANT1):c.228dup (p.Trp77fs)duplication Likely pathogenic 31014 rs587776896 17:76993476-76993477 17:78997394-78997395
17 CANT1 NM_001159773.2(CANT1):c.551C>T (p.Thr184Met)SNV Likely pathogenic 523074 rs770371904 17:76993154-76993154 17:78997072-78997072
18 CANT1 NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val)SNV Likely pathogenic 548509 rs372631124 17:76989726-76989726 17:78993644-78993644
19 CANT1 NM_001159773.2(CANT1):c.735G>A (p.Pro245=)SNV Conflicting interpretations of pathogenicity 734230 17:76991200-76991200 17:78995118-78995118
20 CANT1 NM_001159773.2(CANT1):c.147C>T (p.Phe49=)SNV Conflicting interpretations of pathogenicity 747885 17:76993558-76993558 17:78997476-78997476
21 CANT1 NM_001159773.2(CANT1):c.819C>T (p.Ala273=)SNV Conflicting interpretations of pathogenicity 756412 17:76991116-76991116 17:78995034-78995034
22 CANT1 NM_001159773.2(CANT1):c.969C>T (p.Ala323=)SNV Conflicting interpretations of pathogenicity 709793 17:76989869-76989869 17:78993787-78993787
23 CANT1 NM_001159773.2(CANT1):c.433G>T (p.Val145Leu)SNV Conflicting interpretations of pathogenicity 325703 rs140112462 17:76993272-76993272 17:78997190-78997190
24 XYLT1 NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp)SNV Conflicting interpretations of pathogenicity 373449 rs74993523 16:17353337-17353337 16:17259480-17259480
25 CANT1 NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu)SNV Conflicting interpretations of pathogenicity 379568 rs34082669 17:76989666-76989666 17:78993584-78993584
26 CANT1 NM_001159773.2(CANT1):c.-164G>ASNV Uncertain significance 325718 rs886053532 17:77005763-77005763 17:79009681-79009681
27 CANT1 NM_001159773.2(CANT1):c.*1167G>ASNV Uncertain significance 325673 rs186436891 17:76988465-76988465 17:78992383-78992383
28 CANT1 NM_001159773.2(CANT1):c.916C>T (p.Arg306Cys)SNV Uncertain significance 325698 rs569632479 17:76989922-76989922 17:78993840-78993840
29 CANT1 NM_001159773.2(CANT1):c.287C>T (p.Pro96Leu)SNV Uncertain significance 325704 rs375718883 17:76993418-76993418 17:78997336-78997336
30 CANT1 NM_001159773.2(CANT1):c.250G>C (p.Ala84Pro)SNV Uncertain significance 325705 rs767659113 17:76993455-76993455 17:78997373-78997373
31 CANT1 NM_001159773.2(CANT1):c.61A>G (p.Ser21Gly)SNV Uncertain significance 325707 rs886053527 17:76993644-76993644 17:78997562-78997562
32 CANT1 NM_001159773.2(CANT1):c.-22-34C>GSNV Uncertain significance 325708 rs886053528 17:76993760-76993760 17:78997678-78997678
33 CANT1 NM_001159773.2(CANT1):c.-23+94T>GSNV Uncertain significance 325709 rs867691817 17:76993828-76993828 17:78997746-78997746
34 CANT1 NM_001159773.2(CANT1):c.-23+39G>ASNV Uncertain significance 325711 rs886053529 17:76993883-76993883 17:78997801-78997801
35 CANT1 NM_001159773.2(CANT1):c.*223C>TSNV Uncertain significance 325692 rs886053524 17:76989409-76989409 17:78993327-78993327
36 CANT1 NM_001159773.2(CANT1):c.*174G>ASNV Uncertain significance 325693 rs544997912 17:76989458-76989458 17:78993376-78993376
37 CANT1 NM_001159773.2(CANT1):c.*57G>ASNV Uncertain significance 325695 rs886053525 17:76989575-76989575 17:78993493-78993493
38 CANT1 NM_001159773.2(CANT1):c.125G>A (p.Arg42His)SNV Uncertain significance 325706 rs886053526 17:76993580-76993580 17:78997498-78997498
39 CANT1 NM_001159773.2(CANT1):c.*445G>ASNV Uncertain significance 325690 rs149131650 17:76989187-76989187 17:78993105-78993105
40 CANT1 NM_001159773.2(CANT1):c.*301C>TSNV Uncertain significance 325691 rs576222698 17:76989331-76989331 17:78993249-78993249
41 CANT1 NM_001159773.2(CANT1):c.830C>T (p.Pro277Leu)SNV Uncertain significance 325700 rs774920895 17:76991105-76991105 17:78995023-78995023
42 CANT1 NM_001159773.2(CANT1):c.-202A>CSNV Uncertain significance 325719 rs377716176 17:77005801-77005801 17:79009719-79009719
43 CANT1 NM_001159773.2(CANT1):c.-233C>TSNV Uncertain significance 325720 rs886053533 17:77005832-77005832 17:79009750-79009750
44 CANT1 NM_001159773.2(CANT1):c.*919C>GSNV Uncertain significance 325679 rs777105575 17:76988713-76988713 17:78992631-78992631
45 CANT1 NM_001159773.2(CANT1):c.*550A>CSNV Uncertain significance 325688 rs886053522 17:76989082-76989082 17:78993000-78993000
46 CANT1 NM_001159773.2(CANT1):c.-23+79T>CSNV Uncertain significance 325710 rs548338706 17:76993843-76993843 17:78997761-78997761
47 CANT1 NM_001159773.2(CANT1):c.-127C>ASNV Uncertain significance 325715 rs868277630 17:76994026-76994026 17:78997944-78997944
48 CANT1 NM_001159773.2(CANT1):c.-146-15C>TSNV Uncertain significance 325716 rs886053531 17:76994060-76994060 17:78997978-78997978
49 CANT1 NM_001159773.2(CANT1):c.*1484C>ASNV Uncertain significance 325666 rs886053519 17:76988148-76988148 17:78992066-78992066
50 CANT1 NM_001159773.2(CANT1):c.*1479C>ASNV Uncertain significance 325667 rs886053520 17:76988153-76988153 17:78992071-78992071

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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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43 MeSH
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48 NCI
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50 NDF-RT
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
71 UMLS
72 UMLS via Orphanet
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