ODCD
MCID: ODN023
MIFTS: 56

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 58 54 60 76
Osteochondrodysplasia 58 12 30 6 15 17
Goldblatt Syndrome 58 54 60 76
Chondrodystrophy 12 77 54 56
Odcd 58 54 60 76
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 58 54 76
Goldblatt Chondrodysplasia 54 60
Chondrodysplasia-Dentinogenesis Imperfecta-Joint Laxity Syndrome 60
Congenital Anomaly of Cartilage 12
Cartilage Development Disorder 12
Osteochondrodysplasia Syndrome 12

Characteristics:

Orphanet epidemiological data:

60
odontochondrodysplasia
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
odontochondrodysplasia:
Clinical modifier death in infancy
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Odontochondrodysplasia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 166272Disease definitionOdontochondrodysplasia, 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 recessivetrait.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. Affiliated tissues include bone and kidney, 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 : 58 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 : 76 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 : 77 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 298)
# Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 33.6 COL2A1 COMP FGFR3 MATN3
2 diastrophic dysplasia 32.7 COL2A1 COMP SLC26A2
3 multiple epiphyseal dysplasia 32.7 COL2A1 COL9A2 COMP MATN3 SLC26A2
4 pseudoachondroplasia 32.3 COL9A2 COMP MATN3 SLC26A2
5 achondroplasia 32.2 COMP FGFR3 SHOX SOX9
6 achondrogenesis 32.2 COL2A1 COL9A2 SLC26A2 TRIP11
7 boomerang dysplasia 32.2 RUNX2 SLC26A2
8 spondyloepimetaphyseal dysplasia, matrilin-3 related 32.1 COL2A1 MATN3 SMARCAL1 TRAPPC2
9 brittle bone disorder 31.9 COL1A1 COL1A2 COL2A1 CRTAP FGFR3 FKBP10
10 atelosteogenesis 31.8 COL9A2 FGFR3 SLC26A2
11 achondrogenesis, type ia 30.9 COL2A1 SLC26A2 TRIP11
12 coxa vara 30.4 COL2A1 CRTAP
13 osteogenesis imperfecta, type i 30.4 COL1A1 COL1A2 FGFR3
14 osteogenesis imperfecta, type v 30.3 COL1A1 COL1A2 IFITM5
15 osteogenesis imperfecta, type vi 30.2 COL1A1 IFITM5
16 high bone mass osteogenesis imperfecta 30.2 COL1A1 COL1A2
17 metaphyseal chondrodysplasia, jansen type 30.1 COL2A1 FGFR3 PTHLH
18 osteogenesis imperfecta, type vii 30.1 COL1A1 COL1A2 CRTAP
19 osteogenesis imperfecta, type iv 30.0 COL1A1 COL1A2 CRTAP FKBP10
20 osteogenesis imperfecta, type xi 30.0 CRTAP FKBP10
21 metaphyseal chondrodysplasia, schmid type 30.0 COMP MATN3 RUNX2
22 dentinogenesis imperfecta 29.9 COL1A1 COL1A2 CRTAP FKBP10 IFITM5 P3H1
23 osteogenesis imperfecta, type viii 29.9 COL1A1 COL1A2 CRTAP P3H1
24 epiphyseal dysplasia, multiple, 4 29.9 COL9A2 MATN3 SLC26A2
25 osteogenesis imperfecta, type iii 29.9 COL1A1 COL1A2 CRTAP FKBP10 P3H1
26 epiphyseal dysplasia, multiple, 5 29.8 COL9A2 COMP MATN3 SLC26A2
27 osteogenesis imperfecta, type ii 29.8 COL1A1 COL1A2 CRTAP FGFR3 P3H1 SOX9
28 epiphyseal dysplasia, multiple, 1 29.8 COL9A2 COMP MATN3 SLC26A2
29 spondyloepiphyseal dysplasia with congenital joint dislocations 29.7 COL2A1 FGFR3 RNU4ATAC SLC26A2 SMARCAL1 TRAPPC2
30 spondyloepiphyseal dysplasia congenita 29.6 COL1A1 COL1A2 COL2A1 COMP FGFR3 RUNX2
31 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 12.6
32 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.4
33 cantu syndrome 12.3
34 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 12.1
35 chondrodysplasia, blomstrand type 12.0
36 cleidorhizomelic syndrome 11.8
37 faye-petersen-ward-carey syndrome 11.6
38 hypochondroplasia 11.5
39 craniometaphyseal dysplasia, autosomal dominant 11.4
40 kniest dysplasia 11.4
41 smith-mccort dysplasia 1 11.4
42 leri-weill dyschondrosteosis 11.2
43 thanatophoric dysplasia, type i 11.2
44 dyssegmental dysplasia, silverman-handmaker type 11.2
45 desbuquois dysplasia 1 11.2
46 schwartz-jampel syndrome, type 1 11.2
47 pycnodysostosis 11.2
48 pyknoachondrogenesis 11.2
49 pyle disease 11.2
50 acrocapitofemoral dysplasia 11.2

Graphical network of the top 20 diseases related to Odontochondrodysplasia:



Diseases related to Odontochondrodysplasia

Symptoms & Phenotypes for Odontochondrodysplasia

Human phenotypes related to Odontochondrodysplasia:

60 33 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
3 dentinogenesis imperfecta 60 33 very rare (1%) Very frequent (99-80%) HP:0000703
4 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
5 platyspondyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000926
6 micromelia 60 33 very rare (1%) Very frequent (99-80%) HP:0002983
7 short palm 60 33 hallmark (90%) Very frequent (99-80%) HP:0004279
8 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
9 cone-shaped epiphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0010579
10 scoliosis 60 33 very rare (1%) Frequent (79-30%) HP:0002650
11 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684
12 coxa valga 60 33 frequent (33%) Frequent (79-30%) HP:0002673
13 square pelvis bone 33 frequent (33%) HP:0003278
14 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
15 depressed nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0005280
16 bowing of the long bones 60 33 occasional (7.5%) Occasional (29-5%) HP:0006487
17 short nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0003196
18 retrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000278
19 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
20 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
21 respiratory distress 60 33 occasional (7.5%) Occasional (29-5%) HP:0002098
22 macrocephaly 33 very rare (1%) HP:0000256
23 recurrent respiratory infections 33 very rare (1%) HP:0002205
24 brachydactyly 33 very rare (1%) HP:0001156
25 nephronophthisis 33 very rare (1%) HP:0000090
26 pulmonary hypoplasia 33 very rare (1%) HP:0002089
27 spondylometaphyseal dysplasia 33 very rare (1%) HP:0002657
28 pectus carinatum 33 HP:0000768
29 osteoporosis 33 HP:0000939
30 prominent forehead 33 HP:0011220
31 long philtrum 33 HP:0000343
32 death in infancy 60 Occasional (29-5%)
33 square pelvis 60 Frequent (79-30%)
34 short long bone 33 HP:0003026
35 genu recurvatum 33 HP:0002816
36 motor delay 33 HP:0001270
37 narrow face 33 HP:0000275
38 joint hypermobility 33 HP:0001382
39 genu varum 33 HP:0002970
40 flat acetabular roof 33 HP:0003180
41 short metacarpal 33 HP:0010049
42 cone-shaped epiphyses of the phalanges of the hand 33 HP:0010230
43 short phalanx of finger 33 HP:0009803
44 mesomelia 33 HP:0003027
45 flared iliac wings 33 HP:0002869
46 coronal cleft vertebrae 33 HP:0003417
47 mesomelic short stature 33 HP:0008845
48 small epiphyses 33 HP:0010585
49 irregular epiphyses 33 HP:0010582
50 metaphyseal widening 33 HP:0003016

Symptoms via clinical synopsis from OMIM:

58
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:

47 (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

Search Clinical Trials , NIH Clinical Center for Odontochondrodysplasia

Genetic Tests for Odontochondrodysplasia

Genetic tests related to Odontochondrodysplasia:

# Genetic test Affiliating Genes
1 Osteochondrodysplasia 30 SLC26A2

Anatomical Context for Odontochondrodysplasia

MalaCards organs/tissues related to Odontochondrodysplasia:

42
Bone, Kidney

Publications for Odontochondrodysplasia

Articles related to Odontochondrodysplasia:

(show top 50) (show all 67)
# Title Authors Year
1
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. ( 30728324 )
2019
2
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. ( 30870611 )
2019
3
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. ( 29872333 )
2018
4
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit. ( 29797497 )
2018
5
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats. ( 27063440 )
2016
6
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. ( 26365339 )
2015
7
Efficacy and Complications of Palliative Irradiation in Three Scottish Fold Cats with Osteochondrodysplasia. ( 26365740 )
2015
8
Dental and maxillofacial alterations in patients affected from odontochondrodysplasia: a rare case report and review of literature. ( 25284522 )
2014
9
Measures of self-care independence for children with osteochondrodysplasia: a clinimetric review. ( 21728924 )
2012
10
Fetal pyelectasis and corkscrew-shaped ureters: an association observed in postmortem fetal imaging studies of osteochondrodysplasia and trisomy 21. ( 22517500 )
2012
11
Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. ( 23300579 )
2012
12
Insertional mutation in the Golgb1 gene is associated with osteochondrodysplasia and systemic edema in the OCD rat. ( 21851869 )
2011
13
Clinical and radiographic delineation of odontochondrodysplasia. ( 18241073 )
2008
14
Incomplete dominant osteochondrodysplasia in heterozygous Scottish Fold cats. ( 18339089 )
2008
15
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. ( 18000903 )
2007
16
Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II. ( 17164305 )
2007
17
Osteochondrodysplasia in three Scottish Fold cats. ( 17679781 )
2007
18
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. ( 17009344 )
2006
19
Fryns syndrome with osteochondrodysplasia. ( 15793837 )
2005
20
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. ( 16086394 )
2005
21
Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin. ( 15562030 )
2005
22
A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice. ( 15476249 )
2004
23
Palliative irradiation of Scottish Fold osteochondrodysplasia. ( 15605854 )
2004
24
Retinitis pigmentosa with osteochondrodysplasia in siblings. ( 11702989 )
2001
25
Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings. ( 10817653 )
2000
26
Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). ( 11050630 )
2000
27
A locus responsible for osteochondrodysplasia (ocd) is located on rat chromosome 11. ( 10818212 )
2000
28
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. ( 10664159 )
2000
29
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. ( 10398267 )
1999
30
Osteochondrodysplasia in Scottish Fold cats. ( 10078353 )
1999
31
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. ( 10523019 )
1999
32
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. ( 9571276 )
1998
33
A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. ( 9426272 )
1998
34
Lethal osteosclerotic osteochondrodysplasia with platyspondyly, metaphyseal widening, and intracellular inclusions in sibs. ( 9856576 )
1998
35
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. ( 9056550 )
1997
36
Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia. ( 9024569 )
1997
37
Osteochondrodysplasia occurring in transgenic mice expressing interferon-gamma. ( 9381654 )
1997
38
First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. ( 9415697 )
1997
39
Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia. ( 8957508 )
1996
40
Blomstrand lethal osteochondrodysplasia. ( 8723092 )
1996
41
A new type of a lethal osteochondrodysplasia with angel-shaped brachyphalangy. ( 7981898 )
1994
42
Lethal osteochondrodysplasia and de novo autosomal translocation involving the long arm of chromosome 4. ( 8092197 )
1994
43
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. ( 8486375 )
1993
44
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. ( 1481841 )
1992
45
Histochemical and immunohistochemical distribution of glycosaminoglycans, type II collagen, and fibronectin in developing fetal cartilage of congenital osteochondrodysplasia rat (ocd/ocd). ( 1462255 )
1992
46
Platyspondylic lethal osteochondrodysplasia: Shiraz type with radiological-pathological correlation. ( 1501958 )
1992
47
Osteochondrodysplasia in Fryns syndrome. ( 1903587 )
1991
48
A histological and histochemical study on glycosaminoglycans in epiphysial cartilage of osteochondrodysplasia rat (OCD/OCD). ( 1711949 )
1991
49
Chromatographic analysis of glycosaminoglycans in epiphyseal cartilage of congenital osteochondrodysplasia (ocd/ocd) rat. ( 1790222 )
1991
50
Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension. ( 1897572 )
1991

Variations for Odontochondrodysplasia

ClinVar genetic disease variations for Odontochondrodysplasia:

6 (show top 50) (show all 216)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic rs386833498 GRCh38 Chromosome 5, 149981317: 149981317
2 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic rs386833498 GRCh37 Chromosome 5, 149360880: 149360880
3 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh37 Chromosome 5, 149359991: 149359991
4 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh38 Chromosome 5, 149980428: 149980428
5 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh37 Chromosome 5, 149357747: 149357747
6 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh38 Chromosome 5, 149978184: 149978184
7 TRIP11 NM_004239.4(TRIP11): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs267607138 GRCh37 Chromosome 14, 92482073: 92482073
8 TRIP11 NM_004239.4(TRIP11): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs267607138 GRCh38 Chromosome 14, 92015729: 92015729
9 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh37 Chromosome 5, 149360176: 149360178
10 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh38 Chromosome 5, 149980613: 149980615
11 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh37 Chromosome 5, 149360630: 149360630
12 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh38 Chromosome 5, 149981067: 149981067
13 SLC26A2 NM_000112.3(SLC26A2): c.2065A> T (p.Thr689Ser) single nucleotide variant Benign rs3776070 GRCh37 Chromosome 5, 149361221: 149361221
14 SLC26A2 NM_000112.3(SLC26A2): c.2065A> T (p.Thr689Ser) single nucleotide variant Benign rs3776070 GRCh38 Chromosome 5, 149981658: 149981658
15 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh37 Chromosome 5, 149360877: 149360877
16 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh38 Chromosome 5, 149981314: 149981314
17 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh37 Chromosome 5, 149360143: 149360143
18 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh38 Chromosome 5, 149980580: 149980580
19 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh38 Chromosome 5, 149981813: 149981813
20 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh37 Chromosome 5, 149361376: 149361376
21 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
22 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
23 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh37 Chromosome 5, 149360668: 149360668
24 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh38 Chromosome 5, 149981105: 149981105
25 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh38 Chromosome 5, 149960965: 149960965
26 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh37 Chromosome 5, 149340528: 149340528
27 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh38 Chromosome 5, 149980845: 149980845
28 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh37 Chromosome 5, 149360408: 149360408
29 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh38 Chromosome 5, 149980995: 149980995
30 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh37 Chromosome 5, 149360558: 149360558
31 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh37 Chromosome 5, 149361301: 149361301
32 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh38 Chromosome 5, 149981738: 149981738
33 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh37 Chromosome 5, 149361592: 149361592
34 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh38 Chromosome 5, 149982029: 149982029
35 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh37 Chromosome 5, 149361706: 149361706
36 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh38 Chromosome 5, 149982143: 149982143
37 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh37 Chromosome 5, 149361770: 149361770
38 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh38 Chromosome 5, 149982207: 149982207
39 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh37 Chromosome 5, 149361966: 149361966
40 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh38 Chromosome 5, 149982403: 149982403
41 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh37 Chromosome 5, 149362314: 149362314
42 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh38 Chromosome 5, 149982751: 149982751
43 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh37 Chromosome 5, 149362919: 149362919
44 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh38 Chromosome 5, 149983356: 149983356
45 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh38 Chromosome 5, 149983989: 149983989
46 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh37 Chromosome 5, 149363552: 149363552
47 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh38 Chromosome 5, 149984102: 149984102
48 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh37 Chromosome 5, 149363665: 149363665
49 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh38 Chromosome 5, 149984283: 149984283
50 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh37 Chromosome 5, 149363846: 149363846

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 COL1A1 COL1A2 COL2A1 COL9A2 COMP FGFR3
2
Show member pathways
12.66 COL1A1 COL1A2 COL2A1 COL9A2 COMP
3
Show member pathways
12.52 COL1A1 COL1A2 COL2A1 COL9A2 CRTAP P3H1
4
Show member pathways
11.88 COL1A1 COL1A2 COL2A1 COL9A2 COMP CRTAP
5
Show member pathways
11.84 COL1A1 COL1A2 COL2A1 COL9A2 COMP
6 11.66 COL2A1 FGFR3 SOX9
7 11.39 COL1A1 COL1A2 COL2A1
8 11.34 COL9A2 COMP MATN3
9 11.17 COL2A1 FGFR3 PTHLH RUNX2 SOX9
10 11.05 COL1A1 COL1A2 PTHLH RUNX2
11 10.87 COL1A1 COL1A2
12 10.76 COL1A1 COL1A2 COL2A1 COL9A2 FGFR3

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 COL1A1 COL1A2 CRTAP FGFR3 FKBP10 P3H1
2 extracellular space GO:0005615 9.97 COL1A1 COL1A2 COL2A1 COL9A2 COMP CRTAP
3 extracellular region GO:0005576 9.97 COL1A1 COL1A2 COL2A1 COL9A2 COMP FGFR3
4 collagen-containing extracellular matrix GO:0062023 9.71 COL1A1 COL1A2 COL2A1 COMP
5 collagen trimer GO:0005581 9.46 COL1A1 COL1A2 COL2A1 COL9A2
6 extracellular matrix GO:0031012 9.43 COL1A1 COL1A2 COL2A1 COL9A2 COMP MATN3
7 collagen type I trimer GO:0005584 9.26 COL1A1 COL1A2
8 endoplasmic reticulum lumen GO:0005788 9.23 COL1A1 COL1A2 COL2A1 COL9A2 CRTAP FKBP10

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

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 COL1A1 COL1A2 COMP
2 platelet-derived growth factor binding GO:0048407 9.33 COL1A1 COL1A2 COL2A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL1A1 COL1A2 COL2A1 COL9A2
4 extracellular matrix structural constituent GO:0005201 9.1 COL1A1 COL1A2 COL2A1 COL9A2 COMP MATN3

Sources for Odontochondrodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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