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 56 52 58 73 36
Osteochondrodysplasia 56 12 29 6 15 17
Goldblatt Syndrome 56 52 58 73
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

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 skeletal dysplasias and multiple epiphyseal dysplasia. An important gene associated with Odontochondrodysplasia is TRIP11 (Thyroid Hormone Receptor Interactor 11), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. The drugs mometasone furoate and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and heart, 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 381)
# Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 34.3 FGFR3 COMP COL2A1
2 multiple epiphyseal dysplasia 34.1 TRAPPC2 SOX9 SLC26A2 PTHLH FGFR3 COMP
3 diastrophic dysplasia 33.6 SLC26A2 COMP COL2A1
4 boomerang dysplasia 33.6 TRIP11 P3H1 CRTAP
5 pseudoachondroplasia 33.5 SLC26A2 COMP COL2A1
6 thanatophoric dysplasia, type i 33.4 FGFR3 COMP COL2A1
7 hypochondroplasia 33.4 SHOX FGFR3 COMP COL2A1
8 fibrochondrogenesis 33.4 TRIP11 SOX9 COL2A1
9 achondroplasia 33.3 SOX9 SHOX FGFR3 COMP COL2A1 COL1A1
10 spondyloepimetaphyseal dysplasia, matrilin-3 related 33.1 TRAPPC2B TRAPPC2 SLC26A2 RNU6ATAC RNU4ATAC MIA2
11 hypochondrogenesis 33.1 TRAPPC2B TRAPPC2 COL2A1
12 pyle disease 33.1 RUNX2 PTHLH COMP COL2A1
13 schneckenbecken dysplasia 33.0 TRIP11 TRAPPC2B SLC26A2 COL2A1
14 spondyloepiphyseal dysplasia tarda, x-linked 33.0 TRAPPC2B TRAPPC2 MIA2
15 arthropathy, progressive pseudorheumatoid, of childhood 33.0 TRAPPC2B TRAPPC2
16 brittle bone disorder 33.0 RUNX2 P3H1 MIA2 IFITM5 FKBP10 FGFR3
17 acromesomelic dysplasia 32.5 SHOX FGFR3 COL2A1
18 brachyolmia 32.5 SOX9 SLC26A2 COL2A1
19 otospondylomegaepiphyseal dysplasia 32.3 COMP COL2A1
20 spondyloepiphyseal dysplasia with congenital joint dislocations 32.0 TRAPPC2B TRAPPC2 SLC26A2 RNU6ATAC RNU4ATAC FGFR3
21 epiphyseal dysplasia, multiple, 1 31.8 SLC26A2 MIA2 COMP
22 spondyloepiphyseal dysplasia congenita 31.7 TRAPPC2B TRAPPC2 COMP COL2A1
23 osteogenesis imperfecta, type ii 31.7 P3H1 FKBP10 FGFR3 CRTAP COL1A2 COL1A1
24 achondrogenesis, type ii 31.7 COMP COL2A1
25 dentinogenesis imperfecta 31.6 P3H1 IFITM5 FKBP10 CRTAP COL1A2 COL1A1
26 achondrogenesis 31.4 TRIP11 TRAPPC2B TRAPPC2 SLC26A2 COMP COL2A1
27 achondrogenesis, type ia 31.4 TRIP11 SLC26A2 COL2A1
28 scoliosis 31.2 SOX9 SHOX RUNX2 FKBP10 FGFR3 COMP
29 stickler syndrome 31.1 SOX9 COL2A1 COL1A2 COL1A1
30 coxa vara 31.1 CRTAP COL2A1
31 osteogenesis imperfecta, type i 31.1 CRTAP COL1A2 COL1A1
32 spinal stenosis 31.0 COL2A1 COL1A2 COL1A1
33 chondrosarcoma 31.0 SOX9 RUNX2 PTHLH FGFR3
34 osteogenesis imperfecta, type v 31.0 IFITM5 COL1A2 COL1A1
35 enchondromatosis, multiple, ollier type 31.0 RUNX2 PTHLH FGFR3 COL2A1
36 cartilage disease 30.9 SOX9 RUNX2 COMP COL2A1
37 bone disease 30.9 TRAPPC2 RUNX2 PTHLH FGFR3 COMP COL2A1
38 bone resorption disease 30.9 RUNX2 PTHLH COL1A2 COL1A1
39 osteogenesis imperfecta, type iv 30.9 P3H1 FKBP10 CRTAP COL1A2 COL1A1
40 osteogenesis imperfecta, type iii 30.9 P3H1 FKBP10 CRTAP COL1A2 COL1A1
41 achondroplasia, severe, with developmental delay and acanthosis nigricans 30.8 TRIP11 TRAPPC2 FGFR3
42 osteogenesis imperfecta, type vi 30.8 IFITM5 COL1A2 COL1A1
43 high bone mass osteogenesis imperfecta 30.8 COL1A2 COL1A1
44 osteogenesis imperfecta, type vii 30.7 P3H1 CRTAP COL1A2 COL1A1
45 cleft palate, isolated 30.7 SOX9 RUNX2 FGFR3 COL2A1
46 osteogenesis imperfecta, type viii 30.7 P3H1 CRTAP
47 epiphyseal dysplasia, multiple, 5 30.7 SLC26A2 COMP
48 dyggve-melchior-clausen disease 30.6 TRIP11 TRAPPC2
49 acromesomelic dysplasia, maroteaux type 30.6 SHOX FGFR3
50 cole-carpenter syndrome 30.5 P3H1 MIA2 IFITM5 FKBP10 CRTAP COL1A2

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 dentinogenesis imperfecta 58 31 very rare (1%) Very frequent (99-80%) HP:0000703
4 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
5 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
6 micromelia 58 31 very rare (1%) Very frequent (99-80%) HP:0002983
7 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
8 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
9 cone-shaped epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010579
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 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
15 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
16 bowing of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0006487
17 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
18 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
19 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
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 short metacarpal 31 HP:0010049
30 osteoporosis 31 HP:0000939
31 prominent forehead 31 HP:0011220
32 long philtrum 31 HP:0000343
33 death in infancy 58 Occasional (29-5%)
34 square pelvis 58 Frequent (79-30%)
35 short long bone 31 HP:0003026
36 genu recurvatum 31 HP:0002816
37 motor delay 31 HP:0001270
38 polycystic kidney dysplasia 31 HP:0000113
39 narrow face 31 HP:0000275
40 joint hypermobility 31 HP:0001382
41 genu varum 31 HP:0002970
42 flat acetabular roof 31 HP:0003180
43 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
44 relative macrocephaly 31 HP:0004482
45 short phalanx of finger 31 HP:0009803
46 mesomelia 31 HP:0003027
47 flared iliac wings 31 HP:0002869
48 coronal cleft vertebrae 31 HP:0003417
49 mesomelic short stature 31 HP:0008845
50 small epiphyses 31 HP:0010585

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 COL1A1 COL1A2 COL2A1 COMP FGFR3 FKBP10
2 growth/size/body region MP:0005378 10.17 COL1A1 COL1A2 COL2A1 COMP CRTAP FGFR3
3 craniofacial MP:0005382 10.1 COL1A1 COL2A1 FGFR3 FKBP10 IFITM5 PTHLH
4 limbs/digits/tail MP:0005371 10.07 COL1A1 COL1A2 COL2A1 COMP FGFR3 FKBP10
5 digestive/alimentary MP:0005381 9.91 COL1A1 COL2A1 FGFR3 PTHLH RUNX2 SOX9
6 normal MP:0002873 9.76 COL1A1 COL1A2 COL2A1 COMP FGFR3 PTHLH
7 respiratory system MP:0005388 9.5 COL1A1 COL2A1 FGFR3 PTHLH RUNX2 SOX9
8 skeleton MP:0005390 9.47 COL1A1 COL1A2 COL2A1 COMP CRTAP FGFR3

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:

40
Bone, Kidney, Heart, Spinal Cord, Thymus, Testes

Publications for Odontochondrodysplasia

Articles related to Odontochondrodysplasia:

(show top 50) (show all 265)
# Title Authors PMID Year
1
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. 61 6
30728324 2019
2
Clinical and radiographic delineation of odontochondrodysplasia. 61 56
18241073 2008
3
[Odontochondrodysplasia]. 61 56
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
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. 61
31903676 2020
10
Mild osteochondrodysplasia with acanthosis nigricans in a short-statured Taiwanese family due to the p.Lys650Gln mutation in FGFR3. 61
31708465 2019
11
Cantu syndrome and hypopituitarism: implications for endocrine monitoring. 61
31743099 2019
12
Rmrp Mutation Disrupts Chondrogenesis and Bone Ossification in Zebrafish Model of Cartilage-Hair Hypoplasia via Enhanced Wnt/β-Catenin Signaling. 61
31237961 2019
13
Inducible SMARCAL1 knockdown in iPSC reveals a link between replication stress and altered expression of master differentiation genes. 61
31515241 2019
14
Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs. 61
31510824 2019
15
Osteochondrodysplasia. 61
31371639 2019
16
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
17
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
18
Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases. 61
31392067 2019
19
Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3. 61
30200995 2018
20
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. 61
30170566 2018
21
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
22
Giantin is required for coordinated production of aggrecan, link protein and type XI collagen during chondrogenesis. 61
29577904 2018
23
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia. 61
29567674 2018
24
Site-1 protease regulates skeletal stem cell population and osteogenic differentiation in mice. 61
29437042 2018
25
Sleep-Disordered Breathing in Children with Rare Skeletal Disorders: A Survey of Clinical Records. 61
29929197 2018
26
Atelosteogenesis type III: orthopedic management. 61
27258362 2017
27
The Golgi matrix protein giantin is required for normal cilia function in zebrafish. 61
28546340 2017
28
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. 61
28836540 2017
29
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene. 61
28414187 2017
30
Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases. 61
27353973 2017
31
Clinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Cantú Syndrome. 61
28627835 2017
32
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
33
Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series. 61
28180199 2017
34
[Infant respiratory distress revealing Jeune syndrome]. 61
27889373 2017
35
Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation. 61
29104872 2017
36
Management of joint dislocations of the lower limb in Larsen syndrome: practical approach. 61
27502344 2017
37
Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia. 61
27432013 2016
38
From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases. 61
27412988 2016
39
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats. 61
27063440 2016
40
A combined series of Fgf9 and Fgf18 mutant alleles identifies unique and redundant roles in skeletal development. 61
26794256 2016
41
Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. 61
26621776 2015
42
Efficacy and Complications of Palliative Irradiation in Three Scottish Fold Cats with Osteochondrodysplasia. 61
26365740 2015
43
[Osteomyelitis of the mandible and dysosteosclerosis]. 61
26404894 2015
44
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. 61
26365339 2015
45
Dental and maxillofacial alterations in patients affected from odontochondrodysplasia: a rare case report and review of literature. 61
25284522 2014
46
Long-term observation of a patient with dominant omodysplasia. 61
24458798 2014
47
[Early prenatal diagnosis for a family affected with X-linked spondyloepiphyseal dysplasia tarda family]. 61
24711020 2014
48
A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree. 61
24841781 2014
49
Effect of Growth Hormone treatment on Height Velocity of Children with Pycnodysotosis. 61
25535534 2014
50
Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign. 61
24121766 2014

Variations for Odontochondrodysplasia

ClinVar genetic disease variations for Odontochondrodysplasia:

6 (show top 50) (show all 115) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC26A2 NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp)SNV Pathogenic 4089 rs104893915 5:149359991-149359991 5:149980428-149980428
2 SLC26A2 NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter)SNV Pathogenic 4092 rs104893919 5:149357747-149357747 5:149978184-149978184
3 SLC26A2 NM_000112.3(SLC26A2):c.-26+2T>CSNV Pathogenic 4097 rs386833492 5:149340544-149340544 5:149960981-149960981
4 TRIP11 NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter)SNV Pathogenic 5508 rs267607138 14:92482073-92482073 14:92015729-92015729
5 TRIP11 NM_004239.4(TRIP11):c.4557+1G>TSNV Pathogenic 522813 rs1555386022 14:92469762-92469762 14:92003418-92003418
6 TRIP11 NM_004239.4(TRIP11):c.2038G>T (p.Glu680Ter)SNV Pathogenic 522812 rs1400419650 14:92472282-92472282 14:92005938-92005938
7 TRIP11 NM_004239.4(TRIP11):c.2993_2994del (p.Lys998fs)deletion Pathogenic 619108 rs1566859649 14:92471326-92471327 14:92004982-92004983
8 TRIP11 NM_004239.4(TRIP11):c.4813_4814AG[1] (p.Glu1606fs)short repeat Pathogenic 619111 rs1429820082 14:92465658-92465661 14:91999314-91999317
9 TRIP11 NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs)deletion Pathogenic 619113 rs1566860640 14:92472191-92472192 14:92005847-92005848
10 TRIP11 NM_004239.4(TRIP11):c.1622del (p.Lys541fs)deletion Pathogenic 619114 rs1420691965 14:92472698-92472698 14:92006354-92006354
11 SLC26A2 NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter)SNV Pathogenic/Likely pathogenic 495551 rs766836061 5:149360863-149360863 5:149981300-149981300
12 SLC26A2 NM_000112.3(SLC26A2):c.1020_1022delTGTshort repeat Pathogenic/Likely pathogenic 65558 rs121908077 5:149360166-149360168 5:149980603-149980605
13 SLC26A2 NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser)SNV Pathogenic/Likely pathogenic 4098 rs104893924 5:149361113-149361113 5:149981550-149981550
14 SLC26A2 NM_000112.3(SLC26A2):c.1724del (p.Lys575fs)deletion Pathogenic/Likely pathogenic 4087 rs386833498 5:149360879-149360879 5:149981316-149981316
15 SLC26A2 NM_000112.3(SLC26A2):c.451del (p.Tyr151fs)deletion Likely pathogenic 189077 rs786204675 5:149357664-149357664 5:149978101-149978101
16 SLC26A2 NM_000112.3(SLC26A2):c.55G>T (p.Gly19Ter)SNV Likely pathogenic 56026 rs386833507 5:149357270-149357270 5:149977707-149977707
17 SLC26A2 NM_000112.3(SLC26A2):c.485_486delTGshort repeat Likely pathogenic 371777 rs763198695 5:149357698-149357699 5:149978135-149978136
18 TRIP11 NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val)SNV Likely pathogenic 619112 rs1566843321 14:92441557-92441557 14:91975213-91975213
19 TRIP11 NM_001321851.1(TRIP11):c.4531C>T (p.Gln1511Ter)SNV Likely pathogenic 619109 rs780625551 14:92469786-92469786 14:92003442-92003442
20 TRIP11 NM_001321851.1(TRIP11):c.1225G>T (p.Asp409Tyr)SNV Likely pathogenic 619110 rs1566863801 14:92477416-92477416 14:92011072-92011072
21 TRIP11 NM_001321851.1(TRIP11):c.583C>T (p.Gln195Ter)SNV Conflicting interpretations of pathogenicity 619107 rs149079426 14:92487902-92487902 14:92021558-92021558
22 SLC26A2 NM_000112.3(SLC26A2):c.1512G>A (p.Met504Ile)SNV Conflicting interpretations of pathogenicity 282910 rs76668544 5:149360668-149360668 5:149981105-149981105
23 SLC26A2 NM_000112.3(SLC26A2):c.987T>C (p.Leu329=)SNV Conflicting interpretations of pathogenicity 196211 rs116302615 5:149360143-149360143 5:149980580-149980580
24 SLC26A2 NM_000112.3(SLC26A2):c.2145G>A (p.Ala715=)SNV Conflicting interpretations of pathogenicity 352032 rs886060225 5:149361301-149361301 5:149981738-149981738
25 SLC26A2 NM_000112.3(SLC26A2):c.*216T>GSNV Uncertain significance 352035 rs886060227 5:149361592-149361592 5:149982029-149982029
26 SLC26A2 NM_000112.3(SLC26A2):c.*330G>TSNV Uncertain significance 352038 rs191884433 5:149361706-149361706 5:149982143-149982143
27 SLC26A2 NM_000112.3(SLC26A2):c.*1221dupduplication Uncertain significance 352048 rs886060233 5:149362584-149362585 5:149983021-149983022
28 SLC26A2 NM_000112.3(SLC26A2):c.699+13G>TSNV Uncertain significance 352022 rs886060222 5:149357927-149357927 5:149978364-149978364
29 SLC26A2 NM_000112.3(SLC26A2):c.793C>T (p.Leu265Phe)SNV Uncertain significance 352023 rs886060223 5:149359949-149359949 5:149980386-149980386
30 SLC26A2 NM_000112.3(SLC26A2):c.993A>C (p.Ala331=)SNV Uncertain significance 352024 rs772104667 5:149360149-149360149 5:149980586-149980586
31 SLC26A2 NM_000112.3(SLC26A2):c.1744C>T (p.Arg582Cys)SNV Uncertain significance 352028 rs142542254 5:149360900-149360900 5:149981337-149981337
32 SLC26A2 NM_000112.3(SLC26A2):c.1761C>G (p.Leu587=)SNV Uncertain significance 352029 rs745590895 5:149360917-149360917 5:149981354-149981354
33 SLC26A2 NM_000112.3(SLC26A2):c.2129A>G (p.Tyr710Cys)SNV Uncertain significance 352031 rs374692915 5:149361285-149361285 5:149981722-149981722
34 SLC26A2 NM_000112.3(SLC26A2):c.*974C>GSNV Uncertain significance 352045 rs886060231 5:149362350-149362350 5:149982787-149982787
35 SLC26A2 NM_000112.3(SLC26A2):c.*2357T>CSNV Uncertain significance 352061 rs886060240 5:149363733-149363733 5:149984170-149984170
36 SLC26A2 NM_000112.3(SLC26A2):c.*2443A>GSNV Uncertain significance 352062 rs886060241 5:149363819-149363819 5:149984256-149984256
37 SLC26A2 NM_000112.3(SLC26A2):c.*3165G>ASNV Uncertain significance 352071 rs185603342 5:149364541-149364541 5:149984978-149984978
38 SLC26A2 NM_000112.3(SLC26A2):c.*3693_*3695delCAGshort repeat Uncertain significance 352080 rs886060246 5:149365066-149365068 5:149985503-149985505
39 SLC26A2 NM_000112.3(SLC26A2):c.*4064dupduplication Uncertain significance 352081 rs886060247 5:149365439-149365440 5:149985876-149985877
40 SLC26A2 NM_000112.3(SLC26A2):c.*4224A>GSNV Uncertain significance 352082 rs777116235 5:149365600-149365600 5:149986037-149986037
41 SLC26A2 NM_000112.3(SLC26A2):c.*4333G>ASNV Uncertain significance 352083 rs886060248 5:149365709-149365709 5:149986146-149986146
42 SLC26A2 NM_000112.3(SLC26A2):c.*4469dupduplication Uncertain significance 352086 rs397883627 5:149365836-149365837 5:149986273-149986274
43 SLC26A2 NM_000112.3(SLC26A2):c.*4586C>TSNV Uncertain significance 352089 rs886060250 5:149365962-149365962 5:149986399-149986399
44 SLC26A2 NM_000112.3(SLC26A2):c.*4612G>ASNV Uncertain significance 352090 rs886060251 5:149365988-149365988 5:149986425-149986425
45 SLC26A2 NM_000112.3(SLC26A2):c.*5387T>GSNV Uncertain significance 352097 rs567348765 5:149366763-149366763 5:149987200-149987200
46 SLC26A2 NM_000112.3(SLC26A2):c.-256G>ASNV Uncertain significance 352012 rs886060219 5:149340312-149340312 5:149960749-149960749
47 SLC26A2 NM_000112.3(SLC26A2):c.-238G>ASNV Uncertain significance 352013 rs11953129 5:149340330-149340330 5:149960767-149960767
48 SLC26A2 NM_000112.3(SLC26A2):c.-223A>GSNV Uncertain significance 352015 rs886060220 5:149340345-149340345 5:149960782-149960782
49 SLC26A2 NM_000112.3(SLC26A2):c.-163T>CSNV Uncertain significance 352018 rs886060221 5:149340405-149340405 5:149960842-149960842
50 SLC26A2 NM_000112.3(SLC26A2):c.-40G>ASNV Uncertain significance 352020 rs532461120 5:149340528-149340528 5:149960965-149960965

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 matrix GO:0031012 9.67 COMP COL2A1 COL1A2 COL1A1
2 collagen-containing extracellular matrix GO:0062023 9.65 P3H1 COMP COL2A1 COL1A2 COL1A1
3 endoplasmic reticulum GO:0005783 9.61 TRAPPC2B TRAPPC2 P3H1 MIA2 FKBP10 FGFR3
4 collagen trimer GO:0005581 9.58 COL2A1 COL1A2 COL1A1
5 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 9.5 TRIP11 TRAPPC2B TRAPPC2
6 collagen type I trimer GO:0005584 9.16 COL1A2 COL1A1
7 endoplasmic reticulum lumen GO:0005788 9.1 P3H1 FKBP10 CRTAP COL2A1 COL1A2 COL1A1

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.88 SOX9 RUNX2 PTHLH COMP COL2A1
2 extracellular matrix organization GO:0030198 9.85 SOX9 COMP COL2A1 COL1A2 COL1A1
3 bone development GO:0060348 9.76 TRIP11 P3H1 COL2A1
4 skeletal system morphogenesis GO:0048705 9.72 RUNX2 COL2A1 COL1A1
5 cartilage development GO:0051216 9.71 TRIP11 SOX9 COMP COL2A1
6 cellular response to BMP stimulus GO:0071773 9.7 SOX9 RUNX2 COL2A1
7 bone morphogenesis GO:0060349 9.69 IFITM5 FGFR3 COMP
8 collagen fibril organization GO:0030199 9.67 COMP COL2A1 COL1A2 COL1A1
9 negative regulation of chondrocyte differentiation GO:0032331 9.64 SOX9 PTHLH
10 cartilage condensation GO:0001502 9.63 SOX9 COL2A1
11 osteoblast development GO:0002076 9.63 RUNX2 PTHLH
12 collagen metabolic process GO:0032963 9.62 P3H1 COL1A2
13 chondrocyte proliferation GO:0035988 9.62 FGFR3 COMP
14 chondrocyte differentiation GO:0002062 9.62 SOX9 RUNX2 FGFR3 COL2A1
15 limb bud formation GO:0060174 9.61 SOX9 COL2A1
16 notochord development GO:0030903 9.61 SOX9 COL2A1
17 chondrocyte development GO:0002063 9.61 SOX9 RUNX2 COMP
18 skin morphogenesis GO:0043589 9.6 COL1A2 COL1A1
19 endochondral bone growth GO:0003416 9.59 FGFR3 COMP
20 otic vesicle development GO:0071599 9.58 SOX9 COL2A1
21 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.57 COL2A1 COL1A1
22 anterior head development GO:0097065 9.56 SOX9 COL2A1
23 endochondral ossification GO:0001958 9.56 RUNX2 FGFR3 COL2A1 COL1A1
24 bone mineralization GO:0030282 9.55 PTHLH IFITM5 FGFR3 COMP COL1A2
25 chondrocyte differentiation involved in endochondral bone morphogenesis GO:0003413 9.54 TRIP11 SOX9
26 negative regulation of post-translational protein modification GO:1901874 9.49 P3H1 CRTAP
27 ossification GO:0001503 9.43 SOX9 SLC26A2 RUNX2 COMP COL2A1 COL1A1
28 skeletal system development GO:0001501 9.32 TRAPPC2 SOX9 SHOX RUNX2 PTHLH FGFR3

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 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.33 COL2A1 COL1A2 COL1A1
3 proteoglycan binding GO:0043394 9.26 COMP COL2A1
4 extracellular matrix structural constituent GO:0005201 9.26 COMP COL2A1 COL1A2 COL1A1
5 platelet-derived growth factor binding GO:0048407 8.8 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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