ODCD
MCID: ODN023
MIFTS: 68

Odontochondrodysplasia (ODCD)

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

Aliases & Classifications for Odontochondrodysplasia

MalaCards integrated aliases for Odontochondrodysplasia:

Name: Odontochondrodysplasia 56 52 58 73 36
Osteochondrodysplasia 56 12 29 6 15 39 17
Goldblatt Syndrome 56 52 58 73
Skeletal Dysplasia 12 29 54 6
Chondrodystrophy 12 74 52 54
Odcd 56 52 58 73
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 56 52 73
Goldblatt Chondrodysplasia 52 58
Chondrodysplasia-Dentinogenesis Imperfecta-Joint Laxity Syndrome 58
Congenital Anomaly of Cartilage 12
Cartilage Development Disorder 12
Osteochondrodysplasia Syndrome 12
Dysplasia, Skeletal 39

Characteristics:

Orphanet epidemiological data:

58
odontochondrodysplasia
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
possible gonadal mosaicism in one report
mesomelia becomes more evident with age


HPO:

31
odontochondrodysplasia:
Clinical modifier death in infancy
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Odontochondrodysplasia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166272 Definition Odontochondrodysplasia, also called Goldblatt syndrome , is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. Epidemiology To date, 11 patients have been reported. Clinical description Chondrodysplasia is characterized by mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit. Etiology The etiology is unknown. Genetic counseling The condition is most probably hereditary, transmitted as an autosomal recessive trait . Visit the Orphanet disease page for more resources.

MalaCards based summary : Odontochondrodysplasia, also known as osteochondrodysplasia, is related to multiple epiphyseal dysplasia and skeletal dysplasias. An important gene associated with Odontochondrodysplasia is TRIP11 (Thyroid Hormone Receptor Interactor 11), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM-receptor interaction. The drugs Risedronate and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and liver, and related phenotypes are short stature and abnormality of the metaphysis

Disease Ontology : 12 A bone development disease that results in defective development of cartilage or bone.

OMIM : 56 Odontochondrodysplasia is characterized by mesomelic shortening of tubular bones, ligamentous laxity, and scoliosis, in association with dentinogenesis imperfecta involving both primary and secondary dentition. Affected individuals show variable severity. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone-shaped epiphyses (Maroteaux et al., 1996). Clinical variability and extraskeletal manifestations have been observed (Wehrle et al., 2019). Mutation in the TRIP11 gene also causes a more severe chondrodysplasia, achondrogenesis type IA (ACG1A; 200600). (184260)

KEGG : 36 Odontochondrodysplasia (ODCD), also known as Goldblatt syndrome, is a genetic disorder of skeletal and dental development. Clinical findings are short stature, narrow chest, mesomelic limb shortening, brachydactyly, joint laxity, and dental anomalies. It has been shown that ODCD is caused by mutations in TRIP11 that encodes golgi-associated microtubule-binding protein (GMAP210). TRIP11 is essential for normal skeletal development and endochondral ossification.

UniProtKB/Swiss-Prot : 73 Odontochondrodysplasia: An autosomal recessive disorder of skeletal and dental development characterized by mesomelic shortening of tubular bones, ligamentous laxity, scoliosis, and dentinogenesis imperfecta involving both primary and secondary dentition. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone- shaped epiphyses.

Wikipedia : 74 Chondrodystrophy (literally, "cartilage maldevelopment") refers to a skeletal disorder caused by one of... more...

Related Diseases for Odontochondrodysplasia

Diseases related to Odontochondrodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 785)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 34.7 SOX9 SLC26A2 FGFR3 COMP COL2A1
2 skeletal dysplasias 34.7 TRPV4 NPPC FGFR3 COMP COL2A1
3 eiken syndrome 34.5 SHOX PTHLH
4 brittle bone disorder 34.0 SOX9 RUNX2 FGFR3 CTSK COL2A1 COL1A2
5 achondroplasia 33.9 SOX9 SHOX NPPC FGFR3 COMP COL2A1
6 diastrophic dysplasia 33.9 SLC26A2 COMP COL2A1
7 fibrochondrogenesis 33.9 TRIP11 SOX9 COL2A1
8 pseudoachondroplasia 33.8 SLC26A2 COMP COL2A1
9 thanatophoric dysplasia, type i 33.8 NPPC FGFR3 COMP COL2A1
10 hypochondroplasia 33.8 SHOX NPPC FGFR3 COMP COL2A1
11 spondyloepimetaphyseal dysplasia, matrilin-3 related 33.8 TRPV4 SLC26A2 COMP COL2A1 COL10A1
12 otospondylomegaepiphyseal dysplasia, autosomal recessive 33.7 COMP COL2A1 COL10A1
13 campomelic dysplasia 33.6 SOX9 COL2A1 COL10A1
14 metaphyseal dysplasia 33.5 RUNX2 RMRP PTHLH COL2A1 COL10A1
15 metachondromatosis 33.4 PTHLH CTSK COL2A1 COL10A1
16 cleidocranial dysplasia 33.4 SOX9 RUNX2 COL10A1 ALPL
17 platyspondylic lethal skeletal dysplasia, torrance type 33.4 COMP COL2A1 COL10A1
18 schneckenbecken dysplasia 33.4 TRIP11 SLC26A2 COL2A1
19 boomerang dysplasia 33.2 TRIP11 SLC26A2
20 hypochondrogenesis 33.2 SLC26A2 COL2A1
21 brachyolmia 32.9 TRPV4 SOX9 SLC26A2 COL2A1
22 acromesomelic dysplasia 32.9 SHOX NPPC FGFR3 COL2A1
23 spondyloepiphyseal dysplasia with congenital joint dislocations 32.7 TRPV4 SLC26A2 FGFR3 COMP COL2A1
24 epiphyseal dysplasia, multiple, 2 32.5 SLC26A2 COMP
25 scoliosis 32.3 TRPV4 TRIP11 SOX9 SHOX RUNX2 FGFR3
26 metatropic dysplasia 32.3 TRPV4 SOX9 COL2A1
27 endosteal hyperostosis, autosomal dominant 32.1 CTSK COL1A2 COL1A1
28 spondyloepiphyseal dysplasia congenita 32.1 COMP COL2A1 COL10A1
29 brachydactyly 32.0 TRPV4 TRIP11 RUNX2 PTHLH PRMT7 FGFR3
30 achondrogenesis 32.0 TRIP11 SLC26A2 COMP COL2A1 COL10A1
31 achondrogenesis, type ii 31.9 COMP COL2A1
32 cleft palate, isolated 31.9 TNFRSF13B SOX9 RUNX2 INPP5E FGFR3 COL2A1
33 bone disease 31.7 RUNX2 PTHLH FGFR3 CTSK COMP COL2A1
34 achondrogenesis, type ia 31.7 TRIP11 SLC26A2 COL2A1
35 clubfoot 31.6 TRPV4 TNFRSF13B SLC26A2 INPP5E COL2A1
36 osteoarthritis 31.6 SOX9 RUNX2 COMP COL2A1 COL10A1
37 stickler syndrome 31.5 SOX9 COL2A1 COL1A2 COL1A1
38 epiphyseal dysplasia, multiple, 1 31.5 SLC26A2 COMP
39 chondrosarcoma 31.5 SOX9 RUNX2 PTHLH FGFR3 COL10A1
40 autosomal recessive disease 31.4 SLC26A2 PRMT7 CTSK COL1A2
41 type ii collagen disorders 31.4 TRPV4 COL2A1
42 enchondromatosis, multiple, ollier type 31.4 RUNX2 PTHLH FGFR3 COL2A1
43 cartilage disease 31.4 SOX9 RUNX2 COMP COL2A1 COL10A1
44 spinal stenosis 31.4 COL2A1 COL1A2 COL1A1
45 bone resorption disease 31.4 RUNX2 PTHLH CTSK COL1A2 COL1A1
46 spondyloepimetaphyseal dysplasia, strudwick type 31.4 COL2A1 COL10A1
47 osteoporosis 31.3 SLC26A2 RUNX2 PTHLH CTSK COL2A1 COL1A2
48 acromesomelic dysplasia, maroteaux type 31.3 SHOX NPPC FGFR3
49 coxa vara 31.3 COL2A1 COL10A1
50 osteogenesis imperfecta, type ii 31.3 FGFR3 COL1A2 COL1A1

Graphical network of the top 20 diseases related to Odontochondrodysplasia:



Diseases related to Odontochondrodysplasia

Symptoms & Phenotypes for Odontochondrodysplasia

Human phenotypes related to Odontochondrodysplasia:

58 31 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
3 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
4 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
5 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
6 micromelia 58 31 very rare (1%) Very frequent (99-80%) HP:0002983
7 cone-shaped epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010579
8 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
9 dentinogenesis imperfecta 58 31 very rare (1%) Very frequent (99-80%) HP:0000703
10 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
11 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
12 coxa valga 58 31 frequent (33%) Frequent (79-30%) HP:0002673
13 square pelvis bone 31 frequent (33%) HP:0003278
14 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
15 bowing of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0006487
16 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
17 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
18 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
19 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
20 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
21 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
22 macrocephaly 31 very rare (1%) HP:0000256
23 recurrent respiratory infections 31 very rare (1%) HP:0002205
24 brachydactyly 31 very rare (1%) HP:0001156
25 nephronophthisis 31 very rare (1%) HP:0000090
26 pulmonary hypoplasia 31 very rare (1%) HP:0002089
27 spondylometaphyseal dysplasia 31 very rare (1%) HP:0002657
28 pectus carinatum 31 HP:0000768
29 prominent forehead 31 HP:0011220
30 genu recurvatum 31 HP:0002816
31 osteoporosis 31 HP:0000939
32 motor delay 31 HP:0001270
33 narrow face 31 HP:0000275
34 joint hypermobility 31 HP:0001382
35 long philtrum 31 HP:0000343
36 death in infancy 58 Occasional (29-5%)
37 polycystic kidney dysplasia 31 HP:0000113
38 genu varum 31 HP:0002970
39 short metacarpal 31 HP:0010049
40 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
41 relative macrocephaly 31 HP:0004482
42 short phalanx of finger 31 HP:0009803
43 short long bone 31 HP:0003026
44 mesomelia 31 HP:0003027
45 flared iliac wings 31 HP:0002869
46 coronal cleft vertebrae 31 HP:0003417
47 flat acetabular roof 31 HP:0003180
48 mesomelic short stature 31 HP:0008845
49 irregular epiphyses 31 HP:0010582
50 metaphyseal widening 31 HP:0003016

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
biconvex vertebral bodies
coronal clefts (neonate)
platyspondyly (neonate)

Growth Height:
short stature

Skeletal:
osteoporosis
joint hyperextensibility
chondrocytes have large vacuoles of dilated rough endoplasmic reticulum seen on electron microscopy

Respiratory:
respiratory distress

Head And Neck Teeth:
dentinogenesis imperfecta
delayed tooth eruption, primary and secondary

Skeletal Pelvis:
flared iliac wings
horizontal acetabular roof
small sciatic notch
lacy iliac wings (early childhood)

Chest External Features:
narrow thorax

Genitourinary Kidneys:
polycystic kidneys (in 1 patient)
nephronophthisis (in 1 patient)

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Head And Neck Face:
prominent forehead
narrow face
long philtrum

Respiratory Lung:
pulmonary hypoplasia

Head And Neck Head:
relative macrocephaly

Skeletal Limbs:
mesomelia
small, irregular epiphyses
short long bones
genu vara
genu recurvata
more
Skeletal Hands:
short metacarpals
short phalanges
cone-shaped epiphyses
brachydactyly, mild
delayed carpal ossification

Neurologic Central Nervous System:
delayed motor milestones

Laboratory Abnormalities:
abnormal electrophoretic mobility of type ii collagen

Clinical features from OMIM:

184260

MGI Mouse Phenotypes related to Odontochondrodysplasia:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.44 ALPL COL10A1 COL1A1 COL1A2 COL2A1 COMP
2 growth/size/body region MP:0005378 10.43 ALPL COL10A1 COL1A1 COL1A2 COL2A1 COMP
3 homeostasis/metabolism MP:0005376 10.4 ALPL COL1A1 COL1A2 COL2A1 COMP CTSK
4 craniofacial MP:0005382 10.37 ALPL COL10A1 COL1A1 COL2A1 CTSK FGFR3
5 limbs/digits/tail MP:0005371 10.33 ALPL COL10A1 COL1A1 COL1A2 COL2A1 COMP
6 behavior/neurological MP:0005386 10.32 ALPL COL10A1 COL1A1 COL1A2 COL2A1 COMP
7 cardiovascular system MP:0005385 10.32 ALPL COL1A1 COL1A2 COL2A1 COMP PRMT7
8 immune system MP:0005387 10.32 ALPL COL10A1 COL1A1 COL1A2 COL2A1 COMP
9 mortality/aging MP:0010768 10.28 ALPL COL10A1 COL1A1 COL1A2 COL2A1 FGFR3
10 digestive/alimentary MP:0005381 10.25 ALPL COL1A1 COL2A1 CTSK FGFR3 INPP5E
11 hematopoietic system MP:0005397 10.25 ALPL COL10A1 COL1A1 COL1A2 CTSK FGFR3
12 nervous system MP:0003631 10.24 ALPL COL10A1 COL1A1 COL1A2 COL2A1 CTSK
13 endocrine/exocrine gland MP:0005379 10.19 ALPL COL10A1 COL1A1 CTSK NPPC PRMT7
14 adipose tissue MP:0005375 10.14 ALPL COL1A1 COL1A2 COL2A1 PRMT7 PTHLH
15 muscle MP:0005369 10.01 ALPL COL1A1 COL1A2 COMP PRMT7 RUNX2
16 normal MP:0002873 9.92 COL1A1 COL1A2 COL2A1 COMP FGFR3 PTHLH
17 renal/urinary system MP:0005367 9.86 COL1A1 COL2A1 FGFR3 INPP5E PTHLH SOX9
18 skeleton MP:0005390 9.86 ALPL COL10A1 COL1A1 COL1A2 COL2A1 COMP
19 respiratory system MP:0005388 9.85 ALPL COL1A1 COL2A1 CTSK FGFR3 PTHLH
20 vision/eye MP:0005391 9.28 COL1A1 COL1A2 COL2A1 FGFR3 INPP5E PTHLH

Drugs & Therapeutics for Odontochondrodysplasia

Drugs for Odontochondrodysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
2 Pharmaceutical Solutions Phase 4
3 Hormones Phase 4
4 Diphosphonates Phase 4
5 Calcium, Dietary Phase 4
6 calcium channel blockers Phase 4
7 Immunoglobulins Phase 4
8 Antibodies Phase 4
9 Antibodies, Monoclonal Phase 4
10 Immunologic Factors Phase 4
11
Calcium Nutraceutical Phase 4 7440-70-2 271
12
mometasone furoate Approved, Investigational, Vet_approved Phase 2 83919-23-7
13
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
14 Hormone Antagonists Phase 2
15 Mitogens Phase 2
16 Liver Extracts Phase 1, Phase 2
17
Azacitidine Approved, Investigational 320-67-2 9444

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Phase 4 Multi-center, Multi-national, Open-label, Randomized, Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With Maroteaux-Lamy Syndrome (MPS VI) Completed NCT00299000 Phase 4 Naglazyme
2 Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study Recruiting NCT04152551 Phase 4 Risedronate Oral Tablet
3 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Recruiting NCT04146935 Phase 4 Burosumab Injection [Crysvita]
4 Efficacy and Safety Evaluation of Recombinant Human Growth Hormone (r-hGH), Saizen®, on a Population of Children With Hypochondroplasia, Treated Over a Period of 3 Years or 5 Years if Applicable, in Comparison With a Historic Cohort of Non-treated Children With Hypochondroplasia Completed NCT01111019 Phase 2 Recombinant human growth hormone (r-hGH)
5 Phase 2, Open-Label, Dose-Escalation and Dose-Expansion Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children With Achondroplasia: PROPEL 2 Recruiting NCT04265651 Phase 2 Infigratinib 0.016 mg/kg;Infigratinib 0.032 mg/kg;Infigratinib 0.064 mg/kg;Infigratinib 0.128 mg/kg
6 A Phase I/II Open Label, Dose Escalation, Safety Study in Subjects With Mucopolysaccharidosis Type VI (MPS VI) Using Adeno-Associated Viral Vector 8 to Deliver the Human ARSB Gene to Liver Recruiting NCT03173521 Phase 1, Phase 2
7 COMBAT 1: COMputerised Bone Age Tool (Phase 1: Feasibility of Using Dual Energy X-ray Absorptiometry for Bone Age Assessment in Children) Completed NCT02617901
8 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
9 Sialic Acid Supplementation in NANS Deficiency: An Open-label, Proof of Concept, Two-centers Study Completed NCT03545568
10 Prospective Clinical Assessment Study in Children With Achondroplasia: The PROPEL Trial Recruiting NCT04035811
11 Genetic Analysis of the Chiari I Malformation Recruiting NCT00004738
12 A Prospective Natural History Study of Patients With Rhizomelic Chondrodysplasia Punctata (RCDP) Recruiting NCT04031287
13 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298647
14 Identification and Characterization of Bone-related Genetic Variants in Families Enrolling by invitation NCT02762318

Search NIH Clinical Center for Odontochondrodysplasia

Genetic Tests for Odontochondrodysplasia

Genetic tests related to Odontochondrodysplasia:

# Genetic test Affiliating Genes
1 Osteochondrodysplasia 29 SLC26A2
2 Skeletal Dysplasia 29

Anatomical Context for Odontochondrodysplasia

MalaCards organs/tissues related to Odontochondrodysplasia:

40
Bone, Kidney, Liver, Spinal Cord, Skin, Eye, Thymus

Publications for Odontochondrodysplasia

Articles related to Odontochondrodysplasia:

(show top 50) (show all 394)
# Title Authors PMID Year
1
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. 6 61
30728324 2019
2
Clinical and radiographic delineation of odontochondrodysplasia. 56 61
18241073 2008
3
[Odontochondrodysplasia]. 56 61
8881299 1996
4
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. 6
29872333 2018
5
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. 6
20089971 2010
6
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. 56
1481841 1992
7
Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta. 56
2063920 1991
8
The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. 56
6499247 1984
9
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family. 61
32471379 2020
10
Combined Surgical, Radiation, and Medical Therapies for Osteochondrodysplasia in a Scottish Fold Cat. 61
32182117 2020
11
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. 61
32376988 2020
12
Three-dimensional facial morphology in Cantú syndrome. 61
32100467 2020
13
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. 61
31903676 2020
14
Mild osteochondrodysplasia with acanthosis nigricans in a short-statured Taiwanese family due to the p.Lys650Gln mutation in FGFR3. 61
31708465 2019
15
Rmrp Mutation Disrupts Chondrogenesis and Bone Ossification in Zebrafish Model of Cartilage-Hair Hypoplasia via Enhanced Wnt/β-Catenin Signaling. 61
31237961 2019
16
Cantu syndrome and hypopituitarism: implications for endocrine monitoring. 61
31743099 2019
17
Inducible SMARCAL1 knockdown in iPSC reveals a link between replication stress and altered expression of master differentiation genes. 61
31515241 2019
18
Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs. 61
31510824 2019
19
Osteochondrodysplasia. 61
31371639 2019
20
Osteochondrodysplasia in a Scottish Fold Cat Treated with Radiation Therapy and Samarium-153-1,4,7,10-Tetraazacyclododecane-1,4,7,10-Tetramethylene-Phosphonic Acid. 61
30870611 2019
21
A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita. 61
30932712 2019
22
Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases. 61
31392067 2019
23
Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3. 61
30200995 2018
24
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. 61
30170566 2018
25
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit. 61
29797497 2018
26
Giantin is required for coordinated production of aggrecan, link protein and type XI collagen during chondrogenesis. 61
29577904 2018
27
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia. 61
29567674 2018
28
Site-1 protease regulates skeletal stem cell population and osteogenic differentiation in mice. 61
29437042 2018
29
Sleep-Disordered Breathing in Children with Rare Skeletal Disorders: A Survey of Clinical Records. 61
29929197 2018
30
Atelosteogenesis type III: orthopedic management. 61
27258362 2017
31
The Golgi matrix protein giantin is required for normal cilia function in zebrafish. 61
28546340 2017
32
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene. 61
28414187 2017
33
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. 61
28836540 2017
34
Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases. 61
27353973 2017
35
Clinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Cantú Syndrome. 61
28627835 2017
36
A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome. 61
28328141 2017
37
Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series. 61
28180199 2017
38
[Infant respiratory distress revealing Jeune syndrome]. 61
27889373 2017
39
Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation. 61
29104872 2017
40
Management of joint dislocations of the lower limb in Larsen syndrome: practical approach. 61
27502344 2017
41
Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia. 61
27432013 2016
42
From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases. 61
27412988 2016
43
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats. 61
27063440 2016
44
A combined series of Fgf9 and Fgf18 mutant alleles identifies unique and redundant roles in skeletal development. 61
26794256 2016
45
Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. 61
26621776 2015
46
[Osteomyelitis of the mandible and dysosteosclerosis]. 61
26404894 2015
47
Efficacy and Complications of Palliative Irradiation in Three Scottish Fold Cats with Osteochondrodysplasia. 61
26365740 2015
48
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. 61
26365339 2015
49
Dental and maxillofacial alterations in patients affected from odontochondrodysplasia: a rare case report and review of literature. 61
25284522 2014
50
Long-term observation of a patient with dominant omodysplasia. 61
24458798 2014

Variations for Odontochondrodysplasia

ClinVar genetic disease variations for Odontochondrodysplasia:

6 (show top 50) (show all 374) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALPL NM_000478.6(ALPL):c.360_361del (p.Val121fs)deletion Pathogenic 493003 rs751994699 1:21889663-21889664 1:21563170-21563171
2 COL2A1 NM_001844.5(COL2A1):c.2582G>A (p.Gly861Asp)SNV Pathogenic 492999 rs1209546147 12:48374380-48374380 12:47980597-47980597
3 TRIP11 NM_004239.4(TRIP11):c.4557+1G>TSNV Pathogenic 522813 rs1555386022 14:92469762-92469762 14:92003418-92003418
4 TRIP11 NM_004239.4(TRIP11):c.2038G>T (p.Glu680Ter)SNV Pathogenic 522812 rs1400419650 14:92472282-92472282 14:92005938-92005938
5 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)SNV Pathogenic 523434 rs1251713297 16:68389688-68389688 16:68355785-68355785
6 TRIP11 NM_004239.4(TRIP11):c.2993_2994del (p.Lys998fs)deletion Pathogenic 619108 rs1566859649 14:92471326-92471327 14:92004982-92004983
7 TRIP11 NM_004239.4(TRIP11):c.4813_4814AG[1] (p.Glu1606fs)short repeat Pathogenic 619111 rs1429820082 14:92465658-92465661 14:91999314-91999317
8 TRIP11 NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs)deletion Pathogenic 619113 rs1566860640 14:92472191-92472192 14:92005847-92005848
9 TRIP11 NM_004239.4(TRIP11):c.1622del (p.Lys541fs)deletion Pathogenic 619114 rs1420691965 14:92472698-92472698 14:92006354-92006354
10 DIPK2B , DUSP21 , FUNDC1 , KDM6A deletion Pathogenic 635966 X:44207077-45518941
11 SLC26A2 NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)SNV Pathogenic 4089 rs104893915 5:149359991-149359991 5:149980428-149980428
12 SLC26A2 NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter)SNV Pathogenic 4092 rs104893919 5:149357747-149357747 5:149978184-149978184
13 SLC26A2 NM_000112.3(SLC26A2):c.-26+2T>CSNV Pathogenic 4097 rs386833492 5:149340544-149340544 5:149960981-149960981
14 TRPV4 NM_021625.4(TRPV4):c.1847G>A (p.Arg616Gln)SNV Pathogenic 4992 rs121912632 12:110230212-110230212 12:109792407-109792407
15 TRPV4 NM_021625.4(TRPV4):c.1781G>A (p.Arg594His)SNV Pathogenic 4994 rs77975504 12:110230500-110230500 12:109792695-109792695
16 TRPV4 NM_021625.4(TRPV4):c.998A>G (p.Asp333Gly)SNV Pathogenic 4995 rs121912634 12:110236573-110236573 12:109798768-109798768
17 TRPV4 NM_021625.4(TRPV4):c.2146G>T (p.Ala716Ser)SNV Pathogenic 4996 rs121912635 12:110226267-110226267 12:109788462-109788462
18 TRPV4 NM_021625.4(TRPV4):c.991A>T (p.Ile331Phe)SNV Pathogenic 4997 rs121912636 12:110236580-110236580 12:109798775-109798775
19 TRPV4 NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu)SNV Pathogenic 4998 rs121912637 12:110222183-110222183 12:109784378-109784378
20 TRIP11 NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter)SNV Pathogenic 5508 rs267607138 14:92482073-92482073 14:92015729-92015729
21 FGFR3 NM_001163213.1(FGFR3):c.742C>T (p.Arg248Cys)SNV Pathogenic 16332 rs121913482 4:1803564-1803564 4:1801837-1801837
22 COL1A1 NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser)SNV Pathogenic 17326 rs66527965 17:48270399-48270399 17:50193038-50193038
23 TRPV4 NM_021625.4(TRPV4):c.2395C>T (p.Pro799Ser)SNV Pathogenic 18431 rs267607147 12:110222184-110222184 12:109784379-109784379
24 TRPV4 NM_021625.4(TRPV4):c.2396C>G (p.Pro799Arg)SNV Pathogenic 18432 rs121912637 12:110222183-110222183 12:109784378-109784378
25 TRPV4 NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys)SNV Pathogenic 18435 rs267607149 12:110222190-110222190 12:109784385-109784385
26 TRPV4 NM_021625.4(TRPV4):c.547G>A (p.Glu183Lys)SNV Pathogenic 18437 rs387906324 12:110246113-110246113 12:109808308-109808308
27 TRPV4 NM_021625.4(TRPV4):c.1805A>G (p.Tyr602Cys)SNV Pathogenic 30468 rs267607150 12:110230476-110230476 12:109792671-109792671
28 TRPV4 NM_021625.4(TRPV4):c.1625C>A (p.Ser542Tyr)SNV Pathogenic 30469 rs387906902 12:110231365-110231365 12:109793560-109793560
29 TRPV4 NM_021625.4(TRPV4):c.266C>T (p.Thr89Ile)SNV Pathogenic 30470 rs397514473 12:110252336-110252336 12:109814531-109814531
30 TRPV4 NM_021625.4(TRPV4):c.590A>G (p.Lys197Arg)SNV Pathogenic 30471 rs387906903 12:110240918-110240918 12:109803113-109803113
31 TRPV4 NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys)SNV Pathogenic 30472 rs387906904 12:110240814-110240814 12:109803009-109803009
32 TRPV4 NM_021625.4(TRPV4):c.232G>T (p.Gly78Trp)SNV Pathogenic 30474 rs397514474 12:110252370-110252370 12:109814565-109814565
33 TRPV4 NM_021625.4(TRPV4):c.2219C>T (p.Thr740Ile)SNV Pathogenic 30475 rs387906906 12:110224632-110224632 12:109786827-109786827
34 TRPV4 NM_021625.4(TRPV4):c.826A>G (p.Lys276Glu)SNV Pathogenic 30476 rs387906907 12:110238450-110238450 12:109800645-109800645
35 TRPV4 NM_021625.4(TRPV4):c.1566_1568dupCCTduplication Pathogenic 126465 rs515726155 12:110231750-110231751 12:109793945-109793946
36 TRPV4 NM_021625.4(TRPV4):c.1772A>G (p.Tyr591Cys)SNV Pathogenic 126467 rs515726157 12:110230509-110230509 12:109792704-109792704
37 TRPV4 NM_021625.4(TRPV4):c.1774T>C (p.Phe592Leu)SNV Pathogenic 126468 rs515726158 12:110230507-110230507 12:109792702-109792702
38 TRPV4 NM_021625.4(TRPV4):c.1787T>C (p.Leu596Pro)SNV Pathogenic 126469 rs515726159 12:110230494-110230494 12:109792689-109792689
39 TRPV4 NM_021625.4(TRPV4):c.1798G>T (p.Gly600Trp)SNV Pathogenic 126470 rs515726160 12:110230483-110230483 12:109792678-109792678
40 TRPV4 NM_021625.4(TRPV4):c.1812C>G (p.Ile604Met)SNV Pathogenic 126471 rs515726161 12:110230469-110230469 12:109792664-109792664
41 TRPV4 NM_021625.4(TRPV4):c.1851C>A (p.Phe617Leu)SNV Pathogenic 126472 rs515726162 12:110230208-110230208 12:109792403-109792403
42 TRPV4 NM_021625.4(TRPV4):c.1853T>C (p.Leu618Pro)SNV Pathogenic 126473 rs515726163 12:110230206-110230206 12:109792401-109792401
43 TRPV4 NM_021625.4(TRPV4):c.1875G>A (p.Met625Ile)SNV Pathogenic 126474 rs515726164 12:110230184-110230184 12:109792379-109792379
44 TRPV4 NM_021625.4(TRPV4):c.2125C>A (p.Leu709Met)SNV Pathogenic 126475 rs116571438 12:110226288-110226288 12:109788483-109788483
45 TRPV4 NM_021625.4(TRPV4):c.2330G>A (p.Cys777Tyr)SNV Pathogenic 126477 rs515726165 12:110224521-110224521 12:109786716-109786716
46 TRPV4 NM_021625.4(TRPV4):c.2396_2412del (p.Pro799fs)deletion Pathogenic 126478 rs515726166 12:110222167-110222183 12:109784362-109784378
47 TRPV4 NM_021625.4(TRPV4):c.597G>C (p.Leu199Phe)SNV Pathogenic 126479 rs515726167 12:110240911-110240911 12:109803106-109803106
48 TRPV4 NM_021625.4(TRPV4):c.1024G>T (p.Val342Phe)SNV Pathogenic 126462 rs515726152 12:110236547-110236547 12:109798742-109798742
49 TRPV4 NM_021625.4(TRPV4):c.1219A>G (p.Lys407Glu)SNV Pathogenic 126463 rs515726153 12:110234443-110234443 12:109796638-109796638
50 TRPV4 NM_021625.4(TRPV4):c.717G>C (p.Gln239His)SNV Pathogenic 126482 rs515726169 12:110238559-110238559 12:109800754-109800754

UniProtKB/Swiss-Prot genetic disease variations for Odontochondrodysplasia:

73
# Symbol AA change Variation ID SNP ID
1 TRIP11 p.Asp410Tyr VAR_082011
2 TRIP11 p.Met1806Val VAR_082017

Expression for Odontochondrodysplasia

Search GEO for disease gene expression data for Odontochondrodysplasia.

Pathways for Odontochondrodysplasia

GO Terms for Odontochondrodysplasia

Cellular components related to Odontochondrodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.02 PTHLH NPPC FGFR3 CTSK COMP COL2A1
2 extracellular space GO:0005615 9.91 PTHLH NPPC CTSK COMP COL2A1 COL1A2
3 collagen-containing extracellular matrix GO:0062023 9.77 COMP COL2A1 COL1A2 COL1A1 COL10A1
4 endoplasmic reticulum lumen GO:0005788 9.71 COL2A1 COL1A2 COL1A1 COL10A1
5 collagen trimer GO:0005581 9.26 COL2A1 COL1A2 COL1A1 COL10A1
6 collagen type I trimer GO:0005584 9.16 COL1A2 COL1A1
7 extracellular matrix GO:0031012 9.1 COMP COL2A1 COL1A2 COL1A1 COL10A1 ALPL

Biological processes related to Odontochondrodysplasia according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.93 SOX9 RUNX2 PTHLH COMP COL2A1
2 extracellular matrix organization GO:0030198 9.8 SOX9 COMP COL2A1 COL1A2 COL1A1 COL10A1
3 osteoblast differentiation GO:0001649 9.79 RUNX2 COL1A1 ALPL
4 cartilage development GO:0051216 9.76 TRIP11 SOX9 COMP COL2A1
5 collagen fibril organization GO:0030199 9.73 COMP COL2A1 COL1A2 COL1A1
6 chondrocyte differentiation GO:0002062 9.71 SOX9 RUNX2 FGFR3 COL2A1
7 skeletal system morphogenesis GO:0048705 9.7 RUNX2 COL2A1 COL1A1
8 cellular response to BMP stimulus GO:0071773 9.67 SOX9 RUNX2 COL2A1
9 bone mineralization GO:0030282 9.67 PTHLH FGFR3 COMP COL1A2
10 chondrocyte development GO:0002063 9.65 SOX9 RUNX2 COMP
11 negative regulation of chondrocyte differentiation GO:0032331 9.63 SOX9 PTHLH
12 positive regulation of chondrocyte differentiation GO:0032332 9.63 SOX9 RUNX2
13 osteoblast development GO:0002076 9.62 RUNX2 PTHLH
14 chondrocyte proliferation GO:0035988 9.61 FGFR3 COMP
15 limb bud formation GO:0060174 9.61 SOX9 COL2A1
16 skin morphogenesis GO:0043589 9.6 COL1A2 COL1A1
17 notochord development GO:0030903 9.59 SOX9 COL2A1
18 endochondral bone growth GO:0003416 9.58 FGFR3 COMP
19 otic vesicle development GO:0071599 9.58 SOX9 COL2A1
20 intramembranous ossification GO:0001957 9.57 CTSK COL1A1
21 positive regulation of chondrocyte proliferation GO:1902732 9.56 SOX9 COMP
22 anterior head development GO:0097065 9.55 SOX9 COL2A1
23 endochondral ossification GO:0001958 9.55 RUNX2 FGFR3 COL2A1 COL1A1 ALPL
24 chondrocyte differentiation involved in endochondral bone morphogenesis GO:0003413 9.51 TRIP11 SOX9
25 ossification GO:0001503 9.5 SOX9 SLC26A2 RUNX2 NPPC COMP COL2A1
26 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.43 TRPV4 COL2A1 COL1A1
27 skeletal system development GO:0001501 9.36 SOX9 SHOX RUNX2 PTHLH FGFR3 COMP

Molecular functions related to Odontochondrodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.5 COMP COL1A2 COL1A1
2 proteoglycan binding GO:0043394 9.43 CTSK COMP COL2A1
3 extracellular matrix structural constituent GO:0005201 9.35 COMP COL2A1 COL1A2 COL1A1 COL10A1
4 platelet-derived growth factor binding GO:0048407 9.33 COL2A1 COL1A2 COL1A1
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL2A1 COL1A2 COL1A1 COL10A1

Sources for Odontochondrodysplasia

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
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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43 MeSH
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50 NDF-RT
53 NINDS
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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