ODCD1
MCID: ODN025
MIFTS: 32

Odontochondrodysplasia 1 (ODCD1)

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

Aliases & Classifications for Odontochondrodysplasia 1

MalaCards integrated aliases for Odontochondrodysplasia 1:

Name: Odontochondrodysplasia 1 57
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 57 20 72 6 70
Odontochondrodysplasia 20 58 72 36 39
Goldblatt Syndrome 57 20 58 72
Odcd 57 20 58 72
Goldblatt Chondrodysplasia 20 58
Chondrodysplasia-Dentinogenesis Imperfecta-Joint Laxity Syndrome 58
Hypertension, Goldblatt 70
Odcd1 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
odontochondrodysplasia 1:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

OMIM® 57 184260
OMIM Phenotypic Series 57 PS184260
KEGG 36 H02349
ICD10 via Orphanet 33 Q78.8
UMLS via Orphanet 71 C0018036 C2745953
Orphanet 58 ORPHA166272
MedGen 41 C2745953
UMLS 70 C0018036 C2745953

Summaries for Odontochondrodysplasia 1

GARD : 20 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.

MalaCards based summary : Odontochondrodysplasia 1, also known as spondylometaphyseal dysplasia with dentinogenesis imperfecta, is related to cleidorhizomelic syndrome and odontochondrodysplasia 2 with hearing loss and diabetes, and has symptoms including respiratory distress An important gene associated with Odontochondrodysplasia 1 is TRIP11 (Thyroid Hormone Receptor Interactor 11). Affiliated tissues include bone and kidney, and related phenotypes are short stature and abnormality of the metaphysis

OMIM® : 57 Odontochondrodysplasia-1 (ODCD1) 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). (184260) (Updated 20-May-2021)

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 : 72 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.

Related Diseases for Odontochondrodysplasia 1

Diseases related to Odontochondrodysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 cleidorhizomelic syndrome 11.4
2 odontochondrodysplasia 2 with hearing loss and diabetes 10.9
3 scoliosis 10.1
4 achondrogenesis 10.0
5 reticulum cell sarcoma 9.9
6 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 9.9
7 dentinogenesis imperfecta 9.9
8 reticulosarcoma 9.9
9 spondyloepimetaphyseal dysplasia, strudwick type 9.9
10 achondrogenesis, type ia 9.9
11 osteochondrodysplasia 9.9
12 pectus carinatum 9.9

Graphical network of the top 20 diseases related to Odontochondrodysplasia 1:



Diseases related to Odontochondrodysplasia 1

Symptoms & Phenotypes for Odontochondrodysplasia 1

Human phenotypes related to Odontochondrodysplasia 1:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
biconvex vertebral bodies
coronal clefts (neonate)
platyspondyly (neonate)

Growth Height:
short stature

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

Respiratory Lung:
pulmonary hypoplasia

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

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

Chest External Features:
narrow thorax

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

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Head And Neck Face:
prominent forehead
narrow face
long philtrum

Respiratory:
respiratory distress

Head And Neck Head:
relative macrocephaly

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

Neurologic Central Nervous System:
delayed motor milestones

Laboratory Abnormalities:
abnormal electrophoretic mobility of type ii collagen

Clinical features from OMIM®:

184260 (Updated 20-May-2021)

UMLS symptoms related to Odontochondrodysplasia 1:


respiratory distress

Drugs & Therapeutics for Odontochondrodysplasia 1

Search Clinical Trials , NIH Clinical Center for Odontochondrodysplasia 1

Genetic Tests for Odontochondrodysplasia 1

Anatomical Context for Odontochondrodysplasia 1

MalaCards organs/tissues related to Odontochondrodysplasia 1:

40
Bone, Kidney

Publications for Odontochondrodysplasia 1

Articles related to Odontochondrodysplasia 1:

(show all 11)
# Title Authors PMID Year
1
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. 61 6 57
30728324 2019
2
Clinical and radiographic delineation of odontochondrodysplasia. 57 61
18241073 2008
3
[Odontochondrodysplasia]. 57 61
8881299 1996
4
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. 6
29872333 2018
5
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. 6
20089971 2010
6
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. 57
1481841 1992
7
Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta. 57
2063920 1991
8
The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. 57
6499247 1984
9
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. 61
31903676 2020
10
Sleep-Disordered Breathing in Children with Rare Skeletal Disorders: A Survey of Clinical Records. 61
29929197 2018
11
Dental and maxillofacial alterations in patients affected from odontochondrodysplasia: a rare case report and review of literature. 61
25284522 2014

Variations for Odontochondrodysplasia 1

ClinVar genetic disease variations for Odontochondrodysplasia 1:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRIP11 NM_004239.4(TRIP11):c.2038G>T (p.Glu680Ter) SNV Pathogenic 522812 rs1400419650 GRCh37: 14:92472282-92472282
GRCh38: 14:92005938-92005938
2 TRIP11 NM_004239.4(TRIP11):c.4557+1G>T SNV Pathogenic 522813 rs1555386022 GRCh37: 14:92469762-92469762
GRCh38: 14:92003418-92003418
3 TRIP11 NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) SNV Pathogenic 5508 rs267607138 GRCh37: 14:92482073-92482073
GRCh38: 14:92015729-92015729
4 TRIP11 NM_004239.4(TRIP11):c.2993_2994del (p.Lys998fs) Deletion Pathogenic 619108 rs1566859649 GRCh37: 14:92471326-92471327
GRCh38: 14:92004982-92004983
5 TRIP11 NM_004239.4(TRIP11):c.4813_4814AG[1] (p.Glu1606fs) Microsatellite Pathogenic 619111 rs1429820082 GRCh37: 14:92465658-92465661
GRCh38: 14:91999314-91999317
6 TRIP11 NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs) Deletion Pathogenic 619113 rs1566860640 GRCh37: 14:92472191-92472192
GRCh38: 14:92005847-92005848
7 TRIP11 NM_004239.4(TRIP11):c.1622del (p.Lys541fs) Deletion Pathogenic 619114 rs1420691965 GRCh37: 14:92472698-92472698
GRCh38: 14:92006354-92006354
8 TRIP11 NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter) SNV Pathogenic 619107 rs149079426 GRCh37: 14:92487902-92487902
GRCh38: 14:92021558-92021558
9 TRIP11 NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter) SNV Likely pathogenic 619109 rs780625551 GRCh37: 14:92469786-92469786
GRCh38: 14:92003442-92003442
10 TRIP11 NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val) SNV Likely pathogenic 619112 rs1566843321 GRCh37: 14:92441557-92441557
GRCh38: 14:91975213-91975213
11 TRIP11 NM_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr) SNV Likely pathogenic 619110 rs1566863801 GRCh37: 14:92477416-92477416
GRCh38: 14:92011072-92011072

UniProtKB/Swiss-Prot genetic disease variations for Odontochondrodysplasia 1:

72
# Symbol AA change Variation ID SNP ID
1 TRIP11 p.Asp410Tyr VAR_082011 rs156686380
2 TRIP11 p.Met1806Val VAR_082017 rs156684332

Expression for Odontochondrodysplasia 1

Search GEO for disease gene expression data for Odontochondrodysplasia 1.

Pathways for Odontochondrodysplasia 1

GO Terms for Odontochondrodysplasia 1

Sources for Odontochondrodysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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