DBQD1
MCID: DSB006
MIFTS: 50

Desbuquois Dysplasia 1 (DBQD1) malady

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

Aliases & Classifications for Desbuquois Dysplasia 1

Aliases & Descriptions for Desbuquois Dysplasia 1:

Name: Desbuquois Dysplasia 1 54 66 29 69
Desbuquois Syndrome 66 69
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 66
Joint Instability 42
Dbqd1 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 251450

Summaries for Desbuquois Dysplasia 1

OMIM : 54 Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and... (251450) more...

MalaCards based summary : Desbuquois Dysplasia 1, also known as desbuquois syndrome, is related to desbuquois dysplasia and joint laxity, familial, and has symptoms including waddling gait, joint laxity and malar flattening. An important gene associated with Desbuquois Dysplasia 1 is CANT1 (Calcium Activated Nucleotidase 1), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Levobupivacaine and Adalimumab have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are behavior/neurological and growth/size/body region

UniProtKB/Swiss-Prot : 66 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 33)
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 echinococcosis 10.2 SLC26A2 TRPV4
5 hypogonadotropic hypogonadism 18 with or without anosmia 10.1 FLNB SLC26A2
6 acquired gastric outlet stenosis 10.1 BGN DCN
7 hypervitaminosis d 10.1 DCN FLNB
8 achondrogenesis ib 10.1 COMP SLC26A2
9 sp7-related osteogenesis imperfecta 10.1 COMP SLC26A2 TRPV4
10 vitelliform macular dystrophy 10.0 COMP FLNB SLC26A2
11 stickler sydrome, type i, nonsyndromic ocular 10.0 IGFBP3 TRPV4
12 combined oxidative phosphorylation deficiency 2 10.0 CANT1 CHST3 SLC26A2
13 atelosteogenesis, type i 10.0 B4GALT7 CHST3 FLNB
14 immunodeficiency 30 10.0 COMP DCN SLC26A2
15 epiphyseal dysplasia, multiple, with myopia and deafness 10.0 COMP FMOD TRPV4
16 slti salem syndrome 9.9 COMP FLNB SLC26A2 TRPV4
17 albright's hereditary osteodystrophy 9.9 COMP FMOD TRPV4
18 deafness, autosomal recessive 84b 9.9 BGN DCN FMOD
19 smed strudwick type 9.9 COMP FMOD TRPV4
20 treacher collins syndrome 1 9.9 BGN DCN FLNB SLC26A2
21 cervicitis 9.7
22 dwarfism 9.7
23 osteoarthritis 9.7
24 meningocele 9.5
25 hypermobility syndrome 9.5
26 neuroma 9.5
27 ulnar neuropathy 9.5
28 poliomyelitis 9.5
29 neuropathy 9.5
30 synovial chondromatosis 9.5
31 lateral meningocele syndrome 9.5
32 pityriasis rubra pilaris 8.1 B4GALT7 BGN CANT1 CHST3 COMP CSGALNACT1
33 gingival fibromatosis 8.1 B4GALT7 BGN CANT1 CHST3 COMP CSGALNACT1

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 by clinical synopsis from OMIM:

251450

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 waddling gait 32 HP:0002515
2 joint laxity 32 HP:0001388
3 malar flattening 32 HP:0000272
4 short neck 32 HP:0000470
5 obesity 32 HP:0001513
6 osteoarthritis 32 HP:0002758
7 intellectual disability 32 HP:0001249
8 muscular hypotonia 32 HP:0001252
9 scoliosis 32 HP:0002650
10 kyphosis 32 HP:0002808
11 hyperlordosis 32 HP:0003307
12 depressed nasal bridge 32 HP:0005280
13 pes planus 32 HP:0001763
14 short nose 32 HP:0003196
15 anteverted nares 32 HP:0000463
16 osteoporosis 32 HP:0000939
17 aplasia/hypoplasia of the abdominal wall musculature 32 HP:0010318
18 abnormality of the metaphyses 32 HP:0000944
19 narrow chest 32 HP:0000774
20 platyspondyly 32 HP:0000926
21 coxa valga 32 HP:0002673
22 joint hyperflexibility 32 HP:0005692
23 genu recurvatum 32 HP:0002816
24 abnormality of the eyelashes 32 HP:0000499
25 myopia 32 HP:0000545
26 clinodactyly of the 5th finger 32 HP:0004209
27 small hand 32 HP:0200055
28 glaucoma 32 HP:0000501
29 low-set, posteriorly rotated ears 32 HP:0000368
30 narrow mouth 32 HP:0000160
31 hypotrichosis 32 HP:0001006
32 brachydactyly syndrome 32 HP:0001156
33 sandal gap 32 HP:0001852
34 round face 32 HP:0000311
35 elbow dislocation 32 HP:0003042
36 flattened epiphysis 32 HP:0003071
37 ventricular septal defect 32 HP:0001629
38 talipes equinovarus 32 HP:0001762
39 patellar dislocation 32 HP:0002999
40 genu varum 32 HP:0002970
41 severe short stature 32 HP:0003510
42 radioulnar synostosis 32 HP:0002974
43 disproportionate short-limb short stature 32 HP:0008873
44 midface retrusion 32 HP:0011800
45 proptosis 32 HP:0000520
46 microretrognathia 32 HP:0000308
47 camptodactyly of finger 32 HP:0100490
48 coxa vara 32 HP:0002812
49 blue sclerae 32 HP:0000592
50 motor delay 32 HP:0001270

UMLS symptoms related to Desbuquois Dysplasia 1:


joint laxity, waddling gait

MGI Mouse Phenotypes related to Desbuquois Dysplasia 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 BGN CHST3 COMP CSGALNACT1 DCN FLNB
2 growth/size/body region MP:0005378 10.02 FMOD IGFBP3 IMPAD1 SLC26A2 XYLT1 BGN
3 craniofacial MP:0005382 9.97 BGN CSGALNACT1 DCN FLNB FMOD IMPAD1
4 limbs/digits/tail MP:0005371 9.86 CSGALNACT1 FLNB FMOD IMPAD1 SLC26A2 XYLT1
5 mortality/aging MP:0010768 9.85 BGN CANT1 CSGALNACT1 DCN FLNB SLC26A2
6 muscle MP:0005369 9.43 BGN COMP DCN FMOD IGFBP3 TRPV4
7 skeleton MP:0005390 9.32 BGN CHST3 COMP CSGALNACT1 DCN FLNB

Drugs & Therapeutics for Desbuquois Dysplasia 1

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

(show top 50) (show all 104)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levobupivacaine Approved Phase 4 27262-47-1 92253
2
Adalimumab Approved Phase 4,Phase 3 331731-18-1 16219006
3
Methotrexate Approved Phase 4,Phase 3,Phase 2 1959-05-2, 59-05-2 126941
4
Etanercept Approved, Investigational Phase 4,Phase 3 185243-69-0
5
Menthol Approved Phase 4,Phase 2,Phase 3,Early Phase 1 2216-51-5 16666
6
Hydroxychloroquine Approved Phase 4 118-42-3 3652
7
Sulfasalazine Approved Phase 4 599-79-1 5353980 5359476
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
9
leucovorin Approved, Nutraceutical Phase 4,Phase 3 58-05-9 54575, 6560146 143
10 Anesthetics Phase 4
11 Anesthetics, Local Phase 4
12 Central Nervous System Depressants Phase 4
13 Peripheral Nervous System Agents Phase 4,Phase 3
14 Dermatologic Agents Phase 4,Phase 3
15 Vitamin B Complex Phase 4,Phase 3
16 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
17 Antimetabolites Phase 4,Phase 3
18 Antimetabolites, Antineoplastic Phase 4,Phase 3
19 Antirheumatic Agents Phase 4,Phase 3,Phase 2
20 Folic Acid Antagonists Phase 4,Phase 3
21 Immunosuppressive Agents Phase 4,Phase 3
22 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3
23 Analgesics Phase 4,Phase 3
24 Analgesics, Non-Narcotic Phase 4,Phase 3
25 Anti-Infective Agents Phase 4
26 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3
27 Gastrointestinal Agents Phase 4,Phase 3
28 Antimalarials Phase 4
29 Antiparasitic Agents Phase 4
30 Antiprotozoal Agents Phase 4
31 Folate Nutraceutical Phase 4,Phase 3
32 Vitamin B9 Nutraceutical Phase 4,Phase 3
33 Pharmaceutical Solutions Phase 3,Phase 1
34 Fibrin Tissue Adhesive Phase 3
35
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
36 tannic acid Approved, Nutraceutical Phase 2
37 Interleukin 1 Receptor Antagonist Protein Phase 2,Phase 1
38 Mitogens Phase 1
39
Progesterone Approved, Vet_approved 57-83-0 5994
40
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
41
Salicylic acid Approved, Vet_approved 69-72-7 338
42
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
43
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
44
Ephedrine Approved 299-42-3 9294
45
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741 24759
46
Pseudoephedrine Approved 90-82-4 7028
47
Cimetidine Approved 51481-61-9 2756
48
Altretamine Approved 645-05-6 2123
49
Acetaminophen Approved 103-90-2 1983
50
Diazepam Approved, Illicit, Vet_approved 439-14-5 3016

Interventional clinical trials:

(show top 50) (show all 158)
id Name Status NCT ID Phase
1 Evaluation of Arthroscopic Reconstruction of the Anterior Cruciate Ligament by One Night Hospital Stay or by Day Surgery: a Randomised, Prospective Clinical Trial Unknown status NCT00620477 Phase 4
2 A Comparison of Steel and Bioabsorbable Screw Fixation of Lisfranc Foot Injuries Completed NCT00689962 Phase 4
3 Efficacy and Satisfaction Comparing Two Braces in the Treatment of Developmental Dysplasia of the Hip (DDH) in Infants Completed NCT01375218 Phase 4
4 A Pilot Study of the Feasibility of Discontinuation of Adalimumab in Stable Rheumatoid Arthritis Patients in Clinical Remission Completed NCT00808509 Phase 4
5 Very Early Versus Delayed Etanercept in Patients With RA Recruiting NCT02433184 Phase 4
6 Arthroscopic Treatment of Anterior Shoulder Dislocation Using Knotted and Knotless Anchors Not yet recruiting NCT02535585 Phase 4
7 Conventional vs. Sensor Guided Soft Tissue Balancing in TKA RCT Not yet recruiting NCT02976428 Phase 4
8 Effects Of Rehabilitation Incorporating Gait Training On Clinical Measures Associated With Chronic Ankle Instability Completed NCT02533037 Phase 2, Phase 3
9 Does Immobilization of the Shoulder in External Rotation Reduce the Recurrence Rate of Shoulder Dislocation? Completed NCT00202735 Phase 2, Phase 3
10 Sensorimotor Training Versus Resistance Training in Patients With Knee Osteoarthritis Completed NCT01529398 Phase 2, Phase 3
11 Study Comparing Etanercept (ETN) Against a Placebo for Etanercept on a Background Nonsteroidal Anti Inflammatory Drug (NSAIDs) in the Treatment of Early Spondyloarthritis (SpA) Patients Who do Not Have X-ray Structural Changes Completed NCT01258738 Phase 3
12 TOSCARA Study: A Study of Subcutaneous Tocilizumab (RoActemra/Actemra) in Participants With Active Rheumatoid Arthritis Naïve to RoActemra/Actemra Treatment Completed NCT02031471 Phase 3
13 A Study Comparing ABT-494 to Placebo and to Adalimumab in Subjects With Rheumatoid Arthritis Who Are on a Stable Dose of Methotrexate and Who Have an Inadequate Response to Methotrexate Recruiting NCT02629159 Phase 3
14 Efficacy and Safety of Chondron (Autologus Chondrocyte) in Patients With Cartilage Defects in Their Ankle Active, not recruiting NCT02537067 Phase 3
15 A Study Comparing ABT-494 to Placebo in Subjects With Rheumatoid Arthritis on a Stable Dose of Conventional Synthetic Disease-Modifying Antirheumatic Drugs (csDMARDs) Who Have an Inadequate Response to csDMARDs Alone Active, not recruiting NCT02675426 Phase 3
16 A Study With ABT-494 in Subjects From China and Selected Countries With Moderately to Severely Active Rheumatoid Arthritis Who Have Had an Inadequate Response to Conventional Synthetic Disease-Modifying Anti-Rheumatic Drugs (csDMARDs) Not yet recruiting NCT02955212 Phase 3
17 INFUSE®Bone Graft in Transforaminal Lumbar Interbody Fusion for Degenerative Disease of Lumbosacral Spine Terminated NCT01415908 Phase 3
18 Sensory-Targeted Ankle Rehabilitation Strategies (STARS) Completed NCT01541657 Phase 2
19 Knee Stability Training for Knee Osteoarthritis (OA) Completed NCT00078624 Phase 2
20 Phase 2, Multicenter, Open-Label Extension (OLE) Study With ABT-122 in Rheumatoid Arthritis Subjects Who Have Completed the Preceding M12-963 Study Completed NCT02433340 Phase 2
21 An Open-label Extension Study Evaluating the Safety and Efficacy of ABT-494 in Rheumatoid Arthritis Subjects Active, not recruiting NCT02049138 Phase 2
22 A Study to Compare ABT-494 to Placebo in Subjects With Rheumatoid Arthritis (RA) Who Are on a Stable Dose of Conventional Synthetic Disease-Modifying Anti-Rheumatic Drugs (csDMARDs) and Have an Inadequate Response to csDMARDs Active, not recruiting NCT02720523 Phase 2
23 IL-1RA Treatment in Patients With Acute ACL Tear and Painful Effusions Not yet recruiting NCT02930122 Phase 2
24 CopiOs Posterolateral Fusion Procedure Terminated NCT01123850 Phase 2
25 Study of Autologous Conditioned Serum After Anterior Cruciate Ligament Reconstructive Surgery Completed NCT01037738 Phase 1
26 The Effect of Estrogen and Progesterone Levels on Knee and Ankle Joint Laxity Unknown status NCT00005923
27 Knee Osteoarthritis (OA) Project Treatment Versus Conventional Physical Therapy in the Treatment of Knee OA Patients Unknown status NCT01490606
28 Comparing Manipulation and Rehabilitation to Rehabilitation Only, in the Management of Chronic Ankle Instability Unknown status NCT01196949
29 Influence of Taping on Postural Control in Subjects With Chronic Ankle Instability Unknown status NCT01733433
30 Comparison of Dynamic Knee Stability and Functional Outcomes in Anatomical ACL Reconstruction at AM or Central Position Unknown status NCT02074917
31 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527
32 Shoulder Proprioception Following Open and Arthroscopic Instability Repair Unknown status NCT00889109
33 Hamstrings Autograft Versus Tibialis Allograft for Reconstruction of Anterior Cruciate Ligament Unknown status NCT00510848
34 A New Technique to Produce Anatomical Alignment Results With Less Midflexion Instability in Total Knee Arthroplasty Unknown status NCT02450409
35 Joint Line Reconstruction in Navigated Total Knee Arthroplasty Revision Unknown status NCT01601756
36 Knee Dislocation - Clinical Evaluation of the Use of Hinged External Fixator After Ligament Reconstruction Unknown status NCT02290197
37 Arthroscopic Rotator Interval Closure in Shoulder Instability Repair Unknown status NCT00901797
38 Assessment of Motivity in People Aged 65 to 86 Years Unknown status NCT01706757
39 Ankle Sprain Rehabilitation With the Wii Balance Board Unknown status NCT01449760
40 Study on the Early Warning and Treatment of Cervical Spondylosis of Cervical Type on Young People Based on the " Move Generate Yang " Theory Unknown status NCT02199405
41 Comparison of Hip Resurfacing to Large Femoral Head Total Hip Arthroplasty Unknown status NCT00175487
42 Genetic Disease Gene Identification Unknown status NCT00916903
43 Surgical Treatment of Pelvic Joint Instability in Patients With Severe Pelvic Girdle Pain After Pregnancy and Trauma Completed NCT00900601
44 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
45 Latarjet Procedure: Comparative Outcomes Study of Arthroscopic Versus Mini-open Approach With Minimum 2-year Follow-up Completed NCT02505932
46 Gait Adaptations to Passive Dynamic Ankle-Foot Orthosis Use Completed NCT00115401
47 Effects of Two Techniques of Mobilization in the Dorsiflexion on Patients With Chronic Ankle Instability Completed NCT01618032
48 Arthroscopic Versus Open Stabilization for Traumatic Shoulder Instability Completed NCT00251264
49 Validation of a Kinematic Functional Shoulder Score Including Only Essential Movements Completed NCT01431417
50 Does Shoulder Stabilizations Stabilize Shoulders? Completed NCT02725333

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:

66 (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 5'UTR-exon 1 deletion (2703 bp) deletion Pathogenic GRCh38 Chromosome 17, 79009664: 79009817
2 CANT1 NM_001159772.1(CANT1): c.734delC (p.Pro245Argfs) deletion Pathogenic rs587776509 GRCh37 Chromosome 17, 76991201: 76991201
3 CANT1 NM_001159772.1(CANT1): c.898C> T (p.Arg300Cys) single nucleotide variant Pathogenic rs267606701 GRCh37 Chromosome 17, 76989940: 76989940
4 CANT1 NM_001159772.1(CANT1): c.899G> A (p.Arg300His) single nucleotide variant Pathogenic rs267606699 GRCh37 Chromosome 17, 76989939: 76989939
5 CANT1 NM_001159772.1(CANT1): c.909_910insGCCGC (p.Gln304Alafs) insertion Pathogenic rs587776510 GRCh37 Chromosome 17, 76989928: 76989929
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.902_906dupGCGCC (p.Ser303Alafs) duplication Pathogenic rs587776895 GRCh37 Chromosome 17, 76989932: 76989936
9 CANT1 NM_001159772.1(CANT1): c.228dupC (p.Trp77Leufs) duplication Pathogenic rs587776896 GRCh37 Chromosome 17, 76993477: 76993477
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

Pathways related to Desbuquois Dysplasia 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 B4GALT7 BGN CHST3 CSGALNACT1 DCN FMOD
2
Show member pathways
12.51 B4GALT7 BGN CHST3 CSGALNACT1 DCN FMOD
3
Show member pathways
12.39 BGN COMP DCN FMOD
4
Show member pathways
12.01 B4GALT7 BGN CHST3 CSGALNACT1 DCN FMOD
5
Show member pathways
11.74 BGN DCN FMOD
6 11.53 BGN DCN IGFBP3
7 11.31 BGN COMP DCN FMOD
8 10.6 BGN CHST3 COMP DCN FMOD

GO Terms for Desbuquois Dysplasia 1

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

id Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.85 B4GALT7 CANT1 CHST3 CSGALNACT1 IMPAD1 XYLT1
2 proteinaceous extracellular matrix GO:0005578 9.62 BGN COMP DCN FMOD
3 lysosomal lumen GO:0043202 9.43 BGN DCN FMOD
4 extracellular matrix GO:0031012 9.35 BGN COMP DCN FLNB FMOD
5 Golgi cisterna membrane GO:0032580 9.33 B4GALT7 CANT1 CSGALNACT1
6 Golgi lumen GO:0005796 8.92 BGN DCN FMOD IMPAD1

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.56 BGN COMP CSGALNACT1 DCN
2 protein N-linked glycosylation GO:0006487 9.48 B4GALT7 PGM3
3 endochondral ossification GO:0001958 9.46 CSGALNACT1 IMPAD1
4 chondroitin sulfate catabolic process GO:0030207 9.43 BGN DCN
5 proteoglycan biosynthetic process GO:0030166 9.4 CANT1 CSGALNACT1
6 dermatan sulfate biosynthetic process GO:0030208 9.37 BGN DCN
7 chondroitin sulfate metabolic process GO:0030204 9.32 CSGALNACT1 IMPAD1
8 glycosaminoglycan metabolic process GO:0030203 9.26 B4GALT7 BGN DCN XYLT1
9 peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan GO:0019800 9.16 BGN DCN
10 chondroitin sulfate biosynthetic process GO:0030206 9.02 BGN CHST3 CSGALNACT1 DCN XYLT1

Molecular functions related to Desbuquois Dysplasia 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 8.96 BGN DCN
2 glycosaminoglycan binding GO:0005539 8.62 BGN DCN

Sources for Desbuquois Dysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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