ODCD
MCID: ODN023
MIFTS: 61

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 57 53 59 74
Osteochondrodysplasia 57 12 29 6 15 17
Goldblatt Syndrome 57 53 59 74
Chondrodystrophy 12 75 53 55
Odcd 57 53 59 74
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 57 53 74
Goldblatt Chondrodysplasia 53 59
Chondrodysplasia-Dentinogenesis Imperfecta-Joint Laxity Syndrome 59
Congenital Anomaly of Cartilage 12
Cartilage Development Disorder 12
Osteochondrodysplasia Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
odontochondrodysplasia
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
odontochondrodysplasia:
Clinical modifier death in infancy
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:2256
OMIM 57 184260
ICD9CM 35 756.4
SNOMED-CT 68 378007 67988000
ICD10 via Orphanet 34 Q78.8
UMLS via Orphanet 73 C0018036 C2745953
Orphanet 59 ORPHA166272
MedGen 42 C2745953
UMLS 72 C0008449 C0029422

Summaries for Odontochondrodysplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 166272DefinitionOdontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.EpidemiologyTo date, 11 patients have been reported.Clinical descriptionChondrodysplasia is characterized by mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit.EtiologyThe etiology is unknown.Genetic counselingThe 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 skeletal dysplasias and diastrophic dysplasia. An important gene associated with Odontochondrodysplasia is TRIP11 (Thyroid Hormone Receptor Interactor 11), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. The drugs mometasone furoate and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and spinal cord, 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 : 57 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)

UniProtKB/Swiss-Prot : 74 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 : 75 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 369)
# Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 33.9 MATN3 FGFR3 COMP COL2A1
2 diastrophic dysplasia 33.6 SLC26A2 COMP COL2A1
3 multiple epiphyseal dysplasia 33.5 SLC26A2 MATN3 COMP COL9A2 COL2A1
4 achondroplasia 33.0 SOX9 SHOX FGFR3 COMP
5 pseudoachondroplasia 33.0 SLC26A2 MATN3 COMP COL9A2
6 boomerang dysplasia 32.9 SLC26A2 RUNX2
7 atelosteogenesis 32.9 SLC26A2 FGFR3 COL9A2
8 spondyloepimetaphyseal dysplasia, matrilin-3 related 32.8 TRAPPC2 SMARCAL1 MATN3 COL2A1
9 brittle bone disorder 32.0 P3H1 IFITM5 FKBP10 FGFR3 CRTAP COL2A1
10 spondyloepiphyseal dysplasia with congenital joint dislocations 31.4 TRAPPC2 SMARCAL1 SLC26A2 RNU4ATAC FGFR3 COL2A1
11 achondrogenesis, type ia 31.3 TRIP11 SLC26A2 COL2A1
12 epiphyseal dysplasia, multiple, 1 31.1 SLC26A2 MATN3 COMP COL9A2
13 osteogenesis imperfecta, type i 31.0 FGFR3 COL1A2 COL1A1
14 scoliosis 31.0 RUNX2 FGFR3 COL2A1 COL1A2 COL1A1
15 achondrogenesis 30.9 TRIP11 SLC26A2 COL9A2 COL2A1
16 coxa vara 30.9 CRTAP COL2A1
17 osteogenesis imperfecta, type ii 30.9 SOX9 P3H1 FGFR3 CRTAP COL1A2 COL1A1
18 osteogenesis imperfecta, type vi 30.9 IFITM5 COL1A1
19 spondyloepiphyseal dysplasia congenita 30.9 SLC26A2 RUNX2 FGFR3 COMP COL2A1 COL1A2
20 osteogenesis imperfecta, type v 30.8 IFITM5 COL1A2 COL1A1
21 high bone mass osteogenesis imperfecta 30.8 COL1A2 COL1A1
22 spinal stenosis 30.7 COL9A2 COL2A1 COL1A2
23 metaphyseal chondrodysplasia, jansen type 30.7 PTHLH FGFR3 COL2A1
24 cartilage disease 30.7 COMP COL2A1
25 osteogenesis imperfecta, type vii 30.7 CRTAP COL1A2 COL1A1
26 osteoarthritis 30.6 SOX9 MATN3 COMP COL2A1
27 dentinogenesis imperfecta 30.6 P3H1 IFITM5 FKBP10 CRTAP COL1A2 COL1A1
28 osteogenesis imperfecta, type xi 30.6 FKBP10 CRTAP
29 osteogenesis imperfecta, type iv 30.5 FKBP10 CRTAP COL1A2 COL1A1
30 metaphyseal chondrodysplasia, schmid type 30.5 RUNX2 MATN3 COMP
31 osteogenesis imperfecta, type viii 30.3 P3H1 CRTAP COL1A2 COL1A1
32 epiphyseal dysplasia, multiple, 4 30.3 SLC26A2 MATN3 COL9A2
33 bone disease 30.3 TRAPPC2 RUNX2 PTHLH FGFR3 COL2A1 COL1A1
34 osteogenesis imperfecta, type iii 30.2 P3H1 FKBP10 CRTAP COL1A2 COL1A1
35 epiphyseal dysplasia, multiple, 5 30.2 SLC26A2 MATN3 COMP COL9A2
36 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 12.8
37 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.5
38 cantu syndrome 12.4
39 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 12.3
40 obsolete: hypertrichotic osteochondrodysplasia 12.2
41 chondrodysplasia, blomstrand type 12.1
42 cleidorhizomelic syndrome 11.9
43 thanatophoric dysplasia, type i 11.6
44 hypochondroplasia 11.6
45 fibrochondrogenesis 11.6
46 acromicric dysplasia 11.6
47 pycnodysostosis 11.6
48 otospondylomegaepiphyseal dysplasia, autosomal dominant 11.5
49 asphyxiating thoracic dystrophy 11.5
50 faye-petersen-ward-carey syndrome 11.5

Graphical network of the top 20 diseases related to Odontochondrodysplasia:



Diseases related to Odontochondrodysplasia

Symptoms & Phenotypes for Odontochondrodysplasia

Human phenotypes related to Odontochondrodysplasia:

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
3 dentinogenesis imperfecta 59 32 very rare (1%) Very frequent (99-80%) HP:0000703
4 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
5 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
6 micromelia 59 32 very rare (1%) Very frequent (99-80%) HP:0002983
7 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
8 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
9 cone-shaped epiphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010579
10 scoliosis 59 32 very rare (1%) Frequent (79-30%) HP:0002650
11 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
12 coxa valga 59 32 frequent (33%) Frequent (79-30%) HP:0002673
13 square pelvis bone 32 frequent (33%) HP:0003278
14 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
15 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
16 bowing of the long bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0006487
17 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
18 retrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000278
19 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
20 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
21 respiratory distress 59 32 occasional (7.5%) Occasional (29-5%) HP:0002098
22 macrocephaly 32 very rare (1%) HP:0000256
23 recurrent respiratory infections 32 very rare (1%) HP:0002205
24 brachydactyly 32 very rare (1%) HP:0001156
25 nephronophthisis 32 very rare (1%) HP:0000090
26 pulmonary hypoplasia 32 very rare (1%) HP:0002089
27 spondylometaphyseal dysplasia 32 very rare (1%) HP:0002657
28 pectus carinatum 32 HP:0000768
29 osteoporosis 32 HP:0000939
30 prominent forehead 32 HP:0011220
31 long philtrum 32 HP:0000343
32 death in infancy 59 Occasional (29-5%)
33 square pelvis 59 Frequent (79-30%)
34 short long bone 32 HP:0003026
35 genu recurvatum 32 HP:0002816
36 motor delay 32 HP:0001270
37 polycystic kidney dysplasia 32 HP:0000113
38 narrow face 32 HP:0000275
39 joint hypermobility 32 HP:0001382
40 genu varum 32 HP:0002970
41 flat acetabular roof 32 HP:0003180
42 short metacarpal 32 HP:0010049
43 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
44 relative macrocephaly 32 HP:0004482
45 short phalanx of finger 32 HP:0009803
46 mesomelia 32 HP:0003027
47 flared iliac wings 32 HP:0002869
48 coronal cleft vertebrae 32 HP:0003417
49 mesomelic short stature 32 HP:0008845
50 small epiphyses 32 HP:0010585

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
biconvex vertebral bodies
coronal clefts (neonate)
platyspondyly (neonate)

Growth Height:
short stature

Head And Neck Face:
prominent forehead
long philtrum
narrow face

Respiratory:
respiratory distress

Head And Neck Head:
relative macrocephaly

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

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

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

Respiratory Lung:
pulmonary hypoplasia

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:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 COL1A1 COL1A2 COL2A1 COMP FGFR3 FKBP10
2 growth/size/body region MP:0005378 10.36 COL1A1 COL1A2 COL2A1 COMP CRTAP FGFR3
3 behavior/neurological MP:0005386 10.24 COL1A1 COL1A2 COL2A1 COMP FGFR3 P3H1
4 homeostasis/metabolism MP:0005376 10.22 COL1A1 COL1A2 COL2A1 COL9A2 COMP FGFR3
5 limbs/digits/tail MP:0005371 10.2 COL1A1 COL1A2 COL2A1 COL9A2 COMP FGFR3
6 craniofacial MP:0005382 10.19 COL1A1 COL2A1 FGFR3 FKBP10 IFITM5 PTHLH
7 cardiovascular system MP:0005385 10.18 COL1A1 COL1A2 COL2A1 COMP FKBP10 PTHLH
8 immune system MP:0005387 10.11 COL1A1 COL2A1 COMP FGFR3 IFITM5 MATN3
9 mortality/aging MP:0010768 10.03 COL1A1 COL1A2 COL2A1 FGFR3 FKBP10 IFITM5
10 adipose tissue MP:0005375 10.02 COL1A1 COL1A2 COL2A1 P3H1 PTHLH SOX9
11 digestive/alimentary MP:0005381 10.02 COL1A1 COL2A1 FGFR3 PTHLH RUNX2 SOX9
12 hearing/vestibular/ear MP:0005377 9.83 COL1A1 COL2A1 COL9A2 FGFR3 SOX9
13 normal MP:0002873 9.76 COL1A1 COL1A2 COL2A1 COMP FGFR3 PTHLH
14 skeleton MP:0005390 9.55 COL1A1 COL1A2 COL2A1 COL9A2 COMP CRTAP
15 respiratory system MP:0005388 9.5 COL1A1 COL2A1 FGFR3 PTHLH RUNX2 SOX9

Drugs & Therapeutics for Odontochondrodysplasia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
mometasone furoate Approved, Investigational, Vet_approved 83919-23-7
2 Mitogens

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Clinical Assessment Study in Children With Achondroplasia: The PROPEL Trial Recruiting NCT04035811

Search NIH Clinical Center for Odontochondrodysplasia

Genetic Tests for Odontochondrodysplasia

Genetic tests related to Odontochondrodysplasia:

# Genetic test Affiliating Genes
1 Osteochondrodysplasia 29 SLC26A2

Anatomical Context for Odontochondrodysplasia

MalaCards organs/tissues related to Odontochondrodysplasia:

41
Bone, Kidney, Spinal Cord, Testes, Thymus

Publications for Odontochondrodysplasia

Articles related to Odontochondrodysplasia:

(show top 50) (show all 260)
# Title Authors PMID Year
1
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. 38 71
30728324 2019
2
Clinical and radiographic delineation of odontochondrodysplasia. 38 8
18241073 2008
3
[Odontochondrodysplasia]. 38 8
8881299 1996
4
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. 71
29872333 2018
5
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. 71
20089971 2010
6
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. 8
1481841 1992
7
Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta. 8
2063920 1991
8
The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. 8
6499247 1984
9
Osteochondrodysplasia. 38
31371639 2019
10
Rmrp mutation disrupts chondrogenesis and bone ossification in zebrafish model of cartilage-hair hypoplasia via enhanced Wnt/β-catenin signaling. 38
31237961 2019
11
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. 38
30870611 2019
12
A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita. 38
30932712 2019
13
Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases. 38
31392067 2019
14
Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3. 38
30200995 2018
15
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. 38
30170566 2018
16
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit. 38
29797497 2018
17
Giantin is required for coordinated production of aggrecan, link protein and type XI collagen during chondrogenesis. 38
29577904 2018
18
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia. 38
29567674 2018
19
Site-1 protease regulates skeletal stem cell population and osteogenic differentiation in mice. 38
29437042 2018
20
Sleep-Disordered Breathing in Children with Rare Skeletal Disorders: A Survey of Clinical Records. 38
29929197 2018
21
Atelosteogenesis type III: orthopedic management. 38
27258362 2017
22
The Golgi matrix protein giantin is required for normal cilia function in zebrafish. 38
28546340 2017
23
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. 38
28836540 2017
24
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene. 38
28414187 2017
25
Clinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Cantú Syndrome. 38
28627835 2017
26
Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases. 38
27353973 2017
27
A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome. 38
28328141 2017
28
Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series. 38
28180199 2017
29
[Infant respiratory distress revealing Jeune syndrome]. 38
27889373 2017
30
Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation. 38
29104872 2017
31
Management of joint dislocations of the lower limb in Larsen syndrome: practical approach. 38
27502344 2017
32
Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia. 38
27432013 2016
33
From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases. 38
27412988 2016
34
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats. 38
27063440 2016
35
A combined series of Fgf9 and Fgf18 mutant alleles identifies unique and redundant roles in skeletal development. 38
26794256 2016
36
Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. 38
26621776 2015
37
Efficacy and Complications of Palliative Irradiation in Three Scottish Fold Cats with Osteochondrodysplasia. 38
26365740 2015
38
[Osteomyelitis of the mandible and dysosteosclerosis]. 38
26404894 2015
39
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. 38
26365339 2015
40
Dental and maxillofacial alterations in patients affected from odontochondrodysplasia: a rare case report and review of literature. 38
25284522 2014
41
Long-term observation of a patient with dominant omodysplasia. 38
24458798 2014
42
[Early prenatal diagnosis for a family affected with X-linked spondyloepiphyseal dysplasia tarda family]. 38
24711020 2014
43
A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree. 38
24841781 2014
44
Effect of Growth Hormone treatment on Height Velocity of Children with Pycnodysotosis. 38
25535534 2014
45
Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign. 38
24121766 2014
46
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. 38
24176758 2013
47
A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. 38
23876379 2013
48
Pseudoachondroplasia: a case report. 38
24364233 2013
49
KATP channels and cardiovascular disease: suddenly a syndrome. 38
23538276 2013
50
Diastrophic dysplasia: prenatal diagnosis and review of the literature. 38
23657516 2013

Variations for Odontochondrodysplasia

ClinVar genetic disease variations for Odontochondrodysplasia:

6 (show top 50) (show all 115)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRIP11 NM_004239.4(TRIP11): c.4557+1G> T single nucleotide variant Pathogenic rs1555386022 14:92469762-92469762 14:92003418-92003418
2 TRIP11 NM_004239.4(TRIP11): c.2038G> T (p.Glu680Ter) single nucleotide variant Pathogenic rs1400419650 14:92472282-92472282 14:92005938-92005938
3 SLC26A2 NM_000112.3(SLC26A2): c.-26+2T> C single nucleotide variant Pathogenic rs386833492 5:149340544-149340544 5:149960981-149960981
4 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 5:149357747-149357747 5:149978184-149978184
5 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 5:149359991-149359991 5:149980428-149980428
6 TRIP11 NM_004239.4(TRIP11): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs267607138 14:92482073-92482073 14:92015729-92015729
7 TRIP11 NM_004239.4(TRIP11): c.2993_2994del (p.Lys998fs) deletion Pathogenic 14:92471326-92471327 14:92004982-92004983
8 TRIP11 NM_004239.4(TRIP11): c.4534C> T (p.Gln1512Ter) single nucleotide variant Pathogenic 14:92469786-92469786 14:92003442-92003442
9 TRIP11 NM_004239.4(TRIP11): c.1228G> T (p.Asp410Tyr) single nucleotide variant Pathogenic 14:92477416-92477416 14:92011072-92011072
10 TRIP11 NM_004239.4(TRIP11): c.4813_4814AG[1] (p.Glu1606fs) short repeat Pathogenic 14:92465658-92465661 14:91999314-91999317
11 TRIP11 NM_004239.4(TRIP11): c.5416A> G (p.Met1806Val) single nucleotide variant Pathogenic 14:92441557-92441557 14:91975213-91975213
12 TRIP11 NM_004239.4(TRIP11): c.2128_2129del (p.Ile710fs) deletion Pathogenic 14:92472191-92472192 14:92005847-92005848
13 TRIP11 NM_004239.4(TRIP11): c.1622del (p.Lys541fs) deletion Pathogenic 14:92472698-92472698 14:92006354-92006354
14 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 5:149361113-149361113 5:149981550-149981550
15 SLC26A2 NM_000112.3(SLC26A2): c.1724del (p.Lys575fs) deletion Pathogenic/Likely pathogenic rs386833498 5:149360880-149360880 5:149981317-149981317
16 SLC26A2 NM_000112.3(SLC26A2): c.1707C> G (p.Tyr569Ter) single nucleotide variant Pathogenic/Likely pathogenic rs766836061 5:149360863-149360863 5:149981300-149981300
17 SLC26A2 NM_000112.3(SLC26A2): c.1011_1013TGT[3] (p.Val341del) short repeat Pathogenic/Likely pathogenic rs121908077 5:149360176-149360178 5:149980613-149980615
18 SLC26A2 NM_000112.3(SLC26A2): c.483_484TG[1] (p.Val162fs) short repeat Likely pathogenic rs763198695 5:149357700-149357701 5:149978137-149978138
19 SLC26A2 NM_000112.3(SLC26A2): c.451del (p.Tyr151fs) deletion Likely pathogenic rs786204675 5:149357666-149357666 5:149978103-149978103
20 SLC26A2 NM_000112.3(SLC26A2): c.55G> T (p.Gly19Ter) single nucleotide variant Likely pathogenic rs386833507 5:149357270-149357270 5:149977707-149977707
21 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 5:149360143-149360143 5:149980580-149980580
22 SLC26A2 NM_000112.3(SLC26A2): c.*1221dup duplication Uncertain significance rs886060233 5:149362597-149362597 5:149983034-149983034
23 SLC26A2 NM_000112.3(SLC26A2): c.*4799G> A single nucleotide variant Uncertain significance rs72832119 5:149366175-149366175 5:149986612-149986612
24 SLC26A2 NM_000112.3(SLC26A2): c.*4930C> T single nucleotide variant Uncertain significance rs79521091 5:149366306-149366306 5:149986743-149986743
25 SLC26A2 NM_000112.3(SLC26A2): c.-206T> A single nucleotide variant Uncertain significance rs560467935 5:149340362-149340362 5:149960799-149960799
26 SLC26A2 NM_000112.3(SLC26A2): c.*53C> G single nucleotide variant Uncertain significance rs886060226 5:149361429-149361429 5:149981866-149981866
27 SLC26A2 NM_000112.3(SLC26A2): c.*264C> G single nucleotide variant Uncertain significance rs886060228 5:149361640-149361640 5:149982077-149982077
28 SLC26A2 NM_000112.3(SLC26A2): c.*300C> T single nucleotide variant Uncertain significance rs570796999 5:149361676-149361676 5:149982113-149982113
29 SLC26A2 NM_000112.3(SLC26A2): c.*453G> A single nucleotide variant Uncertain significance rs886060229 5:149361829-149361829 5:149982266-149982266
30 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 5:149360668-149360668 5:149981105-149981105
31 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 5:149340528-149340528 5:149960965-149960965
32 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 5:149360408-149360408 5:149980845-149980845
33 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 5:149360558-149360558 5:149980995-149980995
34 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 5:149361301-149361301 5:149981738-149981738
35 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 5:149361592-149361592 5:149982029-149982029
36 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 5:149361706-149361706 5:149982143-149982143
37 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 5:149362919-149362919 5:149983356-149983356
38 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 5:149363552-149363552 5:149983989-149983989
39 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 5:149363665-149363665 5:149984102-149984102
40 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 5:149363846-149363846 5:149984283-149984283
41 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 5:149363979-149363979 5:149984416-149984416
42 SLC26A2 NM_000112.3(SLC26A2): c.*2617C> T single nucleotide variant Uncertain significance rs188922059 5:149363993-149363993 5:149984430-149984430
43 SLC26A2 NM_000112.3(SLC26A2): c.*3261A> C single nucleotide variant Uncertain significance rs886060245 5:149364637-149364637 5:149985074-149985074
44 SLC26A2 NM_000112.3(SLC26A2): c.*3307A> G single nucleotide variant Uncertain significance rs557854258 5:149364683-149364683 5:149985120-149985120
45 SLC26A2 NM_000112.3(SLC26A2): c.*2357T> C single nucleotide variant Uncertain significance rs886060240 5:149363733-149363733 5:149984170-149984170
46 SLC26A2 NM_000112.3(SLC26A2): c.*2443A> G single nucleotide variant Uncertain significance rs886060241 5:149363819-149363819 5:149984256-149984256
47 SLC26A2 NM_000112.3(SLC26A2): c.*1221del deletion Uncertain significance rs886060233 5:149362597-149362597 5:149983034-149983034
48 SLC26A2 NM_000112.3(SLC26A2): c.*1427G> A single nucleotide variant Uncertain significance rs760907801 5:149362803-149362803 5:149983240-149983240
49 SLC26A2 NM_000112.3(SLC26A2): c.*1552G> C single nucleotide variant Uncertain significance rs143723917 5:149362928-149362928 5:149983365-149983365
50 SLC26A2 NM_000112.3(SLC26A2): c.*2003A> G single nucleotide variant Uncertain significance rs886060237 5:149363379-149363379 5:149983816-149983816

Expression for Odontochondrodysplasia

Search GEO for disease gene expression data for Odontochondrodysplasia.

Pathways for Odontochondrodysplasia

Pathways related to Odontochondrodysplasia according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 FGFR3 COMP COL9A2 COL2A1 COL1A2 COL1A1
2
Show member pathways
12.66 COMP COL9A2 COL2A1 COL1A2 COL1A1
3
Show member pathways
12.52 P3H1 CRTAP COL9A2 COL2A1 COL1A2 COL1A1
4
Show member pathways
11.88 P3H1 MATN3 CRTAP COMP COL9A2 COL2A1
5
Show member pathways
11.85 COMP COL9A2 COL2A1 COL1A2 COL1A1
6 11.66 SOX9 FGFR3 COL2A1
7 11.39 COL2A1 COL1A2 COL1A1
8 11.34 MATN3 COMP COL9A2
9 11.17 SOX9 RUNX2 PTHLH FGFR3 COL2A1
10 11.05 RUNX2 PTHLH COL1A2 COL1A1
11 10.87 COL1A2 COL1A1
12 10.76 FGFR3 COL9A2 COL2A1 COL1A2 COL1A1

GO Terms for Odontochondrodysplasia

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.98 TRAPPC2 P3H1 FKBP10 FGFR3 CRTAP COL1A2
2 extracellular space GO:0005615 9.97 PTHLH MATN3 CRTAP COMP COL9A2 COL2A1
3 extracellular region GO:0005576 9.97 PTHLH P3H1 MATN3 FGFR3 COMP COL9A2
4 collagen-containing extracellular matrix GO:0062023 9.71 COMP COL2A1 COL1A2 COL1A1
5 collagen trimer GO:0005581 9.46 COL9A2 COL2A1 COL1A2 COL1A1
6 extracellular matrix GO:0031012 9.43 MATN3 COMP COL9A2 COL2A1 COL1A2 COL1A1
7 collagen type I trimer GO:0005584 9.26 COL1A2 COL1A1
8 endoplasmic reticulum lumen GO:0005788 9.23 P3H1 MATN3 FKBP10 CRTAP COL9A2 COL2A1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 bone development GO:0060348 9.71 TRIP11 P3H1 COL2A1
2 collagen fibril organization GO:0030199 9.67 COL2A1 COL1A2 COL1A1
3 skeletal system morphogenesis GO:0048705 9.65 RUNX2 COL2A1 COL1A1
4 ossification GO:0001503 9.65 SOX9 SLC26A2 RUNX2 COL2A1 COL1A1
5 tissue homeostasis GO:0001894 9.62 SOX9 COL2A1
6 positive regulation of chondrocyte differentiation GO:0032332 9.62 SOX9 RUNX2
7 chondrocyte differentiation GO:0002062 9.62 SOX9 RUNX2 FGFR3 COL2A1
8 cartilage condensation GO:0001502 9.61 SOX9 COL2A1
9 osteoblast development GO:0002076 9.61 RUNX2 PTHLH
10 bone mineralization GO:0030282 9.61 PTHLH IFITM5 FGFR3
11 negative regulation of chondrocyte differentiation GO:0032331 9.6 SOX9 PTHLH
12 chondrocyte development GO:0002063 9.59 SOX9 RUNX2
13 protein heterotrimerization GO:0070208 9.58 COL1A2 COL1A1
14 notochord development GO:0030903 9.58 SOX9 COL2A1
15 cellular response to BMP stimulus GO:0071773 9.58 SOX9 RUNX2 COL2A1
16 limb bud formation GO:0060174 9.57 SOX9 COL2A1
17 skin morphogenesis GO:0043589 9.56 COL1A2 COL1A1
18 otic vesicle development GO:0071599 9.55 SOX9 COL2A1
19 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.52 COL2A1 COL1A1
20 anterior head development GO:0097065 9.51 SOX9 COL2A1
21 extracellular matrix organization GO:0030198 9.5 SOX9 MATN3 COMP COL9A2 COL2A1 COL1A2
22 chondrocyte differentiation involved in endochondral bone morphogenesis GO:0003413 9.46 TRIP11 SOX9
23 endochondral ossification GO:0001958 9.46 RUNX2 FGFR3 COL2A1 COL1A1
24 skeletal system development GO:0001501 9.4 TRAPPC2 SOX9 SHOX RUNX2 PTHLH MATN3
25 negative regulation of post-translational protein modification GO:1901874 9.37 P3H1 CRTAP

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

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.43 COMP COL1A2 COL1A1
2 platelet-derived growth factor binding GO:0048407 9.33 COL2A1 COL1A2 COL1A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL9A2 COL2A1 COL1A2 COL1A1
4 extracellular matrix structural constituent GO:0005201 9.1 MATN3 COMP COL9A2 COL2A1 COL1A2 COL1A1

Sources for Odontochondrodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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