CLCD
MCID: CLD001
MIFTS: 62

Cleidocranial Dysplasia (CLCD) malady

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

Aliases & Classifications for Cleidocranial Dysplasia

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cleidocranial Dysplasia:

Name: Cleidocranial Dysplasia 52 11 23 48 24 25 54 70 12 50 39 13 68
Cleidocranial Dysostosis 11 23 48 24 25 54 70 27
Marie-Sainton Disease 11 48
Clcd 48 70
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 52
 
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 52
Dysplasia Cleidocranial 48
Marie-Sainton Syndrome 25
Ccd 70

Characteristics:

Orphanet epidemiological data:

54
cleidocranial dysplasia:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Europe),1-9/100000 (United States); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
cleidocranial dysplasia:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: pathogenic variants in runx2 have a high penetrance and extreme variability...


Classifications:



External Ids:

OMIM52 119600
Disease Ontology11 DOID:13994
ICD1030 Q74.0
MeSH39 D002973
NCIt45 C75020
SNOMED-CT62 240193006, 65976001
Orphanet54 ORPHA1452
MESH via Orphanet40 D002973
UMLS via Orphanet69 C0008928
ICD10 via Orphanet31 Q74.0

Summaries for Cleidocranial Dysplasia

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NIH Rare Diseases:48 Cleidocranial dysplasia (ccd) is a condition that primarily affects the development of the bones and teeth. characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. ccd is caused by changes (mutations) in the runx2 gene and inheritance is autosomal dominant. it may be inherited from an affected parent or occur due to a new mutation in the runx2 gene. management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems. last updated: 4/7/2016

MalaCards based summary: Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to parietal foramina with cleidocranial dysplasia and central core disease, and has symptoms including Array, Array and Array. An important gene associated with Cleidocranial Dysplasia is RUNX2 (Runt Related Transcription Factor 2), and among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and TGF-beta Receptor Signaling (WikiPathways). Affiliated tissues include clavicle, skull and bone, and related mouse phenotypes are no phenotypic analysis and respiratory system.

Disease Ontology:11 An osteochondrodysplasia that has material basis in mutations in the RUNX2 gene which results in undeveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull.

Genetics Home Reference:25 Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family.

OMIM:52 The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia... (119600) more...

UniProtKB/Swiss-Prot:70 Cleidocranial dysplasia: Autosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondral and intramembranous bone formation. Typical features include hypoplasia/aplasia of clavicles, patent fontanelles, wormian bones (additional cranial plates caused by abnormal ossification of the calvaria), supernumerary teeth, short stature, and other skeletal changes. In some cases defects in RUNX2 are exclusively associated with dental anomalies.

Wikipedia:71 Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a congenital disorder that... more...

GeneReviews for NBK1513

Related Diseases for Cleidocranial Dysplasia

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Diseases in the Cleidocranial Dysplasia family:

Cleidocranial Dysplasia Recessive Form

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

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1parietal foramina with cleidocranial dysplasia12.4
2central core disease11.9
3cleidocranial dysplasia recessive form11.9
4yunis-varon syndrome11.8
5congenital chloride diarrhea10.9
6cerebral creatine deficiency syndrome 210.8
7leukotriene c4 synthase deficiency10.2MSX2, RUNX2
8arterial calcification, generalized, of infancy, 110.2COL10A1, RUNX2
9familial hyperaldosteronism10.2CBFB, RUNX2
10t cell immunodeficiency primary10.1RUNX2, SOX9
1113q12.3 microdeletion syndrome10.1COL10A1, SOX9
12neuropathy, distal hereditary motor, type iia10.1COL10A1, RUNX2
13microphthalmia with coloboma 510.1RUNX2, SHH
14dressler's syndrome10.1CBFB, MSX2, RUNX2
15cerebral palsy10.1ACAN, COL10A1
16bone structure disease10.0MSX2, RUNX2, SOX9
17chromosomal disease10.0ACAN, RUNX2
18milker's nodule10.0CBFB, RUNX2, RUNX3
19bone resorption disease10.0ACAN, SOX9
20hypophosphatasia10.0
21thanatophoric dysplasia, type i9.9ACAN, SOX9
22leukemia9.9
23myeloid leukemia9.9
24malignant adult ependymoma9.9ACAN, RUNX2
25dentin dysplasia9.9ACAN, SOX9
26root resorption9.9
27malignant hyperthermia9.9
28malignant hyperthermia susceptibility9.9
29spondylo-megaepiphyseal-metaphyseal dysplasia9.7
30holoprosencephaly9.7
31thalassemia9.7
32congenital hypothyroidism9.7
33rickets9.7
34ovarian disease9.7
35von willebrand's disease9.7
36ehlers-danlos syndrome9.7
37hypothyroidism9.7
38dysostosis9.7
39syringomyelia9.7
40myopathy9.7
41periodontitis9.7
42psoriasis9.7
43cleft lip9.7
44thalassemia minor9.7
45atlantoaxial subluxation9.7
46enamel caries9.7
47intellectual disability9.7
48trichohepatoenteric syndrome 28.6ACAN, CBFB, COL10A1, FIG4, MSX2, RUNX2

Graphical network of the top 20 diseases related to Cleidocranial Dysplasia:



Diseases related to cleidocranial dysplasia

Symptoms & Phenotypes for Cleidocranial Dysplasia

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Symptoms by clinical synopsis from OMIM:

119600

Clinical features from OMIM:

119600

Human phenotypes related to Cleidocranial Dysplasia:

 54 64 (show all 89)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glossoptosis64 54 Occasional (29-5%) HP:0000162
2 abnormality of the teeth54 Very frequent (99-80%)
3 cleft palate64 54 Occasional (29-5%) HP:0000175
4 large fontanelles64 54 Very frequent (99-80%) HP:0000239
5 sinusitis64 54 Frequent (79-30%) HP:0000246
6 brachycephaly64 54 Occasional (29-5%) HP:0000248
7 macrocephaly64 54 Occasional (29-5%) HP:0000256
8 mandibular prognathia64 54 Frequent (79-30%) HP:0000303
9 hypertelorism64 54 Very frequent (99-80%) HP:0000316
10 broad forehead64 54 Occasional (29-5%) HP:0000337
11 sloping forehead64 54 Very frequent (99-80%) HP:0000340
12 micrognathia64 54 Very frequent (99-80%) HP:0000347
13 hearing abnormality54 Frequent (79-30%)
14 hearing impairment64 54 Frequent (79-30%) HP:0000365
15 chronic otitis media64 54 Frequent (79-30%) HP:0000389
16 carious teeth64 54 Very frequent (99-80%) HP:0000670
17 abnormality of dental enamel64 54 Very frequent (99-80%) HP:0000682
18 delayed eruption of teeth64 54 Frequent (79-30%) HP:0000684
19 abnormality of the ribs64 54 Frequent (79-30%) HP:0000772
20 narrow chest64 54 Very frequent (99-80%) HP:0000774
21 hypoplastic scapulae64 54 Occasional (29-5%) HP:0000882
22 short clavicles64 54 Very frequent (99-80%) HP:0000894
23 osteoporosis64 54 Frequent (79-30%) HP:0000939
24 brachydactyly syndrome64 54 Frequent (79-30%) HP:0001156
25 abnormality of the metacarpal bones64 54 Frequent (79-30%) HP:0001163
26 abnormality of the thumb64 54 Occasional (29-5%) HP:0001172
27 tapered finger64 54 Occasional (29-5%) HP:0001182
28 dystrophic toenail64 54 Occasional (29-5%) HP:0001810
29 frontal bossing64 54 Very frequent (99-80%) HP:0002007
30 recurrent respiratory infections64 54 Very frequent (99-80%) HP:0002205
31 abnormality of pelvic girdle bone morphology54 Occasional (29-5%)
32 wormian bones64 54 Very frequent (99-80%) HP:0002645
33 scoliosis64 54 Occasional (29-5%) HP:0002650
34 skeletal dysplasia64 54 Very frequent (99-80%) HP:0002652
35 high, narrow palate64 54 Very frequent (99-80%) HP:0002705
36 recurrent fractures64 54 Occasional (29-5%) HP:0002757
37 coxa vara64 54 Occasional (29-5%) HP:0002812
38 genu valgum64 54 Occasional (29-5%) HP:0002857
39 spina bifida occulta64 54 Frequent (79-30%) HP:0003298
40 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
41 short stature64 54 Very frequent (99-80%) HP:0004322
42 decreased skull ossification64 54 Frequent (79-30%) HP:0004331
43 abnormality of the sacrum64 54 Frequent (79-30%) HP:0005107
44 depressed nasal bridge64 54 Frequent (79-30%) HP:0005280
45 abnormality of epiphysis morphology64 54 Occasional (29-5%) HP:0005930
46 dystrophic fingernails64 54 Occasional (29-5%) HP:0008391
47 hypoplastic inferior ilia64 54 Very frequent (99-80%) HP:0008821
48 sleep apnea64 54 Occasional (29-5%) HP:0010535
49 cheekbone underdevelopment54 Very frequent (99-80%)
50 chin dimple64 54 Frequent (79-30%) HP:0010751
51 open bite64 54 Frequent (79-30%) HP:0010807
52 increased number of teeth64 54 Very frequent (99-80%) HP:0011069
53 short face64 54 Frequent (79-30%) HP:0011219
54 midface retrusion64 54 Frequent (79-30%) HP:0011800
55 down-sloping shoulders64 54 Very frequent (99-80%) HP:0200021
56 narrow palate64 HP:0000189
57 high palate64 HP:0000218
58 parietal bossing64 HP:0000242
59 malar flattening64 HP:0000272
60 delayed eruption of primary teeth64 HP:0000680
61 delayed eruption of permanent teeth64 HP:0000696
62 short ribs64 HP:0000773
63 cervical ribs64 HP:0000891
64 neonatal respiratory distress64 HP:0002643
65 increased susceptibility to fractures64 HP:0002659
66 thickened calvaria64 HP:0002684
67 absent frontal sinuses64 HP:0002688
68 absent paranasal sinuses64 HP:0002689
69 large foramen magnum64 HP:0002700
70 hypoplastic frontal sinuses64 HP:0002738
71 kyphosis64 HP:0002808
72 hypoplastic iliac wing64 HP:0002866
73 wide pubic symphysis64 HP:0003183
74 spondylolisthesis64 HP:0003302
75 spondylolysis64 HP:0003304
76 syringomyelia64 HP:0003396
77 short middle phalanx of the 5th finger64 HP:0004220
78 persistent open anterior fontanelle64 HP:0004474
79 abnormal facility in opposing the shoulders64 HP:0005259
80 long second metacarpal64 HP:0006040
81 hypoplasia of dental enamel64 HP:0006297
82 aplastic clavicles64 HP:0006660
83 delayed pubic bone ossification64 HP:0008788
84 moderately short stature64 HP:0008848
85 short middle phalanx of the 2nd finger64 HP:0009577
86 cone-shaped epiphyses of the phalanges of the hand64 HP:0010230
87 increased bone mineral density64 HP:0011001
88 short femoral neck64 HP:0100864
89 hypoplasia of the zygomatic bone64 HP:0010669

MGI Mouse Phenotypes related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

41 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.0CBFB, RUNX2, RUNX3, SHH, SOX9
2MP:00053889.0CBFB, RUNX2, RUNX3, SHH, SOX9
3MP:00053858.9CBFB, FIG4, MSX2, RUNX2, SHH, SOX9
4MP:00053818.8CBFB, MSX2, RUNX2, RUNX3, SHH, SOX9
5MP:00053918.5CBFB, MSX2, RUNX2, SHH, SOX9
6MP:00053698.5FIG4, MSX2, RUNX2, RUNX3, SHH, SOX9
7MP:00053798.4CBFB, COL10A1, MSX2, RUNX2, RUNX3, SHH
8MP:00053978.3CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
9MP:00107718.2CBFB, FIG4, MSX2, RUNX2, RUNX3, SHH
10MP:00053827.9CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
11MP:00053787.9CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
12MP:00053877.9CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
13MP:00053717.9CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
14MP:00107687.8CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
15MP:00036317.8CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
16MP:00053907.7CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3

Drugs & Therapeutics for Cleidocranial Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cleidocranial Dysplasia


Cochrane evidence based reviews: cleidocranial dysplasia

Genetic Tests for Cleidocranial Dysplasia

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Genetic tests related to Cleidocranial Dysplasia:

id Genetic test Affiliating Genes
1 Cleidocranial Dysostosis27
2 Cleidocranial Dysplasia24 RUNX2

Anatomical Context for Cleidocranial Dysplasia

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MalaCards organs/tissues related to Cleidocranial Dysplasia:

36
Bone, Eye, Myeloid, Kidney, Uterus, B cells

FMA organs/tissues related to Cleidocranial Dysplasia:

17
Clavicle, Skull

Publications for Cleidocranial Dysplasia

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Articles related to Cleidocranial Dysplasia:

(show top 50)    (show all 284)
idTitleAuthorsYear
1
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review. (28056872)
2017
2
Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. (28505335)
2017
3
Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case. (28091408)
2017
4
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia. (28173761)
2017
5
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation. (27272193)
2016
6
Case of the Month. Cleidocranial Dysplasia. (27116813)
2016
7
RUNX2 mutation impairs bone remodelling of dental follicle cells and periodontal ligament cells in patients with cleidocranial dysplasia. (27509906)
2016
8
Cleidocranial Dysplasia With 6p21.1-p12.3 Microdeletion: A Case Report and Literature Review. (27500518)
2016
9
Orthodontic treatment of a patient with cleidocranial dysplasia: A case report. (27446262)
2016
10
Cleidocranial dysplasia: A report of two cases with brief review. (27195196)
2016
11
Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2. (27177937)
2016
12
Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families. (28027977)
2016
13
Fabrication of lithium silicate ceramic veneers with a CAD/CAM approach: A clinical report of cleidocranial dysplasia. (25682532)
2015
14
Expansion of polyalanine tracts in the QA domain may play a critical role in the clavicular development of cleidocranial dysplasia. (26440098)
2015
15
Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia. (26700323)
2015
16
Expression of RUNX2 and its signaling partners TCF7, FGFR1/2 in cleidocranial dysplasia. (25738174)
2015
17
Histological examination and clinical evaluation of the jawbone of an adult patient with cleidocranial dysplasia: a case report. (26339428)
2015
18
Early dental treatments for patients with cleidocranial dysplasia. (25815383)
2015
19
Cleidocranial dysplasia: family cases. (26757508)
2015
20
A rare case of cleidocranial dysplasia presenting with failure to thrive. (25810671)
2015
21
Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia. (25755819)
2015
22
Cleidocranial dysplasia with bilateral posterior glenohumeral dislocation: a case-report. (25592053)
2015
23
Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient. (26220009)
2015
24
Combined surgical-orthodontic rehabilitation of cleidocranial dysplasia: 5 years follow-up. (26301237)
2015
25
Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases. (26279653)
2015
26
Restorative treatment strategies for patients with cleidocranial dysplasia. (25677164)
2015
27
A review of clinical and radiological features of cleidocranial dysplasia with a report of two cases and a dental treatment protocol. (26538892)
2015
28
A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia. (25852448)
2015
29
Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient. (26389062)
2015
30
Generation of cleidocranial dysplasia-specific human induced pluripotent stem cells in completely serum-, feeder-, and integration-free culture. (26559068)
2015
31
Cranioplasty Using a Modified Split Calvarial Graft Technique in Cleidocranial Dysplasia. (26279819)
2015
32
Cleidocranial dysplasia syndrome (CCD) with an unusual finding in a young patient. (26581700)
2015
33
Abnormal differentiation of dental pulp cells in cleidocranial dysplasia. (25589510)
2015
34
Cone-beam computed tomography: An inevitable investigation in cleidocranial dysplasia. (26097368)
2015
35
Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation. (26594640)
2015
36
Orthognathic surgery in patients with cleidocranial dysplasia. (25974789)
2015
37
Familial cleidocranial dysplasia misdiagnosed as rickets over three generations. (26286462)
2015
38
A novel in-frame deletion of the RUNX2 gene causes a classic form of cleidocranial dysplasia. (23558979)
2014
39
Identification of three novel frameshift mutations in the RUNX2 gene in three sporadic Chinese cases with cleidocranial dysplasia]. (25119901)
2014
40
CbfI^ deletion in mice recapitulates cleidocranial dysplasia and reveals multiple functions of CbfI^ required for skeletal development. (24850862)
2014
41
Ehlers-Danlos syndrome versus cleidocranial dysplasia. (24887404)
2014
42
Cleidocranial dysplasia case report: remodeling of teeth as aesthetic restorative treatment. (25045546)
2014
43
Orthodontic traction in a patient with cleidocranial dysplasia: 3 years of follow-up. (24975005)
2014
44
Role of the RUNX2 p.R225Q mutation in cleidocranial dysplasia: a rare presentation and an analysis of the RUNX2 protein structure. (24634175)
2014
45
Delayed diagnosis of cleidocranial dysplasia in an adult: a case report. (24893645)
2014
46
Prospective signs of cleidocranial dysplasia in Cebpb deficiency. (24885110)
2014
47
Cleidocranial dysplasia with autosomal dominant inheritance pattern. (25184084)
2014
48
Novel complex disease allele mutations in cleidocranial dysplasia patients. (24935264)
2014
49
A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up. (24984680)
2014
50
Cleidocranial dysplasia: a case report illustrating diagnostic clinical and radiological findings. (25121071)
2014

Variations for Cleidocranial Dysplasia

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UniProtKB/Swiss-Prot genetic disease variations for Cleidocranial Dysplasia:

70 (show all 45)
id Symbol AA change Variation ID SNP ID
1RUNX2p.Leu113ArgVAR_012132
2RUNX2p.Ser118ArgVAR_012133
3RUNX2p.Phe121CysVAR_012134
4RUNX2p.Cys123ArgVAR_012135
5RUNX2p.Arg169GlnVAR_012137rs104893995
6RUNX2p.Met175ArgVAR_012138rs104893989
7RUNX2p.Arg190GlnVAR_012139
8RUNX2p.Arg190TrpVAR_012140
9RUNX2p.Ser191AsnVAR_012141rs104893990
10RUNX2p.Arg193CysVAR_012142
11RUNX2p.Phe197SerVAR_012143
12RUNX2p.Leu199PheVAR_012144
13RUNX2p.Thr200AlaVAR_012145rs104893993
14RUNX2p.Thr205ArgVAR_012146
15RUNX2p.Gln209ArgVAR_012147
16RUNX2p.Arg225GlnVAR_012148rs104893991
17RUNX2p.Arg225TrpVAR_012149rs104893992
18RUNX2p.Gln53LeuVAR_064081
19RUNX2p.Ser118AsnVAR_064082
20RUNX2p.Arg131CysVAR_064083
21RUNX2p.Arg131GlyVAR_064084
22RUNX2p.Arg131SerVAR_064085
23RUNX2p.Leu136ProVAR_064086
24RUNX2p.Val156AspVAR_064087
25RUNX2p.Val156GlyVAR_064088
26RUNX2p.Arg169ProVAR_064089rs104893995
27RUNX2p.Met175LysVAR_064090
28RUNX2p.Met175ValVAR_064091rs201647225
29RUNX2p.Phe187SerVAR_064092
30RUNX2p.Arg193GlnVAR_064093
31RUNX2p.Thr200IleVAR_064094
32RUNX2p.Ile201LysVAR_064095
33RUNX2p.Gln209HisVAR_064096
34RUNX2p.Ala211ProVAR_064097
35RUNX2p.Lys218GluVAR_064098
36RUNX2p.Lys218AsnVAR_064099rs752933596
37RUNX2p.Lys218GlnVAR_064100
38RUNX2p.Thr220IleVAR_064101
39RUNX2p.Arg225LeuVAR_064102
40RUNX2p.Arg228GlyVAR_064103
41RUNX2p.Lys233ArgVAR_064104
42RUNX2p.Asp287AsnVAR_064105
43RUNX2p.Ala362ValVAR_064106
44RUNX2p.Thr420IleVAR_064107
45RUNX2p.Thr420AsnVAR_064108

Clinvar genetic disease variations for Cleidocranial Dysplasia:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1RUNX2NM_ 001015051.3(RUNX2): c.476G> A (p.Gly159Asp)SNVPathogenicrs864621970GRCh37Chr 6, 45399652: 45399652
2RUNX2NM_ 001024630.3(RUNX2): c.1171C> T (p.Arg391Ter)SNVPathogenicrs397515537GRCh37Chr 6, 45514647: 45514647
3RUNX2NM_ 001024630.3(RUNX2): c.90dupC (p.Ser31Leufs)duplicationPathogenicrs397515538GRCh37Chr 6, 45390361: 45390361
4RUNX2NM_ 001024630.3(RUNX2)indelPathogenicrs730880313GRCh38Chr 6, 45422723: 45422737
5RUNX2NM_ 001024630.3(RUNX2): c.891G> A (p.Trp297Ter)SNVPathogenicrs104893988GRCh37Chr 6, 45480014: 45480014
6RUNX2NM_ 001024630.3(RUNX2): c.524T> G (p.Met175Arg)SNVPathogenicrs104893989GRCh37Chr 6, 45399700: 45399700
7RUNX2NM_ 001024630.3(RUNX2): c.572G> A (p.Ser191Asn)SNVPathogenicrs104893990GRCh37Chr 6, 45399748: 45399748
8RUNX2NM_ 001024630.3(RUNX2): c.674G> A (p.Arg225Gln)SNVPathogenicrs104893991GRCh37Chr 6, 45405777: 45405777
9RUNX2NM_ 001024630.3(RUNX2): c.673C> T (p.Arg225Trp)SNVPathogenicrs104893992GRCh37Chr 6, 45405776: 45405776
10RUNX2NM_ 001024630.3(RUNX2): c.598A> G (p.Thr200Ala)SNVPathogenicrs104893993GRCh37Chr 6, 45405701: 45405701
11RUNX2NM_ 001024630.3(RUNX2): c.1565G> C (p.Ter522Ser)SNVPathogenicrs104893994GRCh37Chr 6, 45515041: 45515041
12RUNX2NM_ 001024630.3(RUNX2): c.506G> C (p.Arg169Pro)SNVPathogenicrs104893995GRCh37Chr 6, 45399682: 45399682
13RUNX2NM_ 001024630.3(RUNX2): c.1228dupC (p.Leu410Profs)duplicationPathogenicrs730880315GRCh37Chr 6, 45514704: 45514704

Copy number variations for Cleidocranial Dysplasia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
121023762990000045200000DeletionRUNX2Cleidocranial dysplasia
221341664540403145626797MicrodeletionRUNX2Cleidocranial dysplasia

Expression for genes affiliated with Cleidocranial Dysplasia

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Search GEO for disease gene expression data for Cleidocranial Dysplasia.

Pathways for genes affiliated with Cleidocranial Dysplasia

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GO Terms for genes affiliated with Cleidocranial Dysplasia

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Cellular components related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.2RUNX2, SOX9, TCF7

Biological processes related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1cell maturationGO:004846910.7CBFB, RUNX2
2positive regulation of osteoblast differentiationGO:004566910.6MSX2, RUNX2
3endochondral ossificationGO:000195810.6COL10A1, RUNX2
4odontogenesis of dentin-containing toothGO:004247510.5RUNX2, SHH
5stem cell differentiationGO:004886310.5MSX2, RUNX2
6embryonic digit morphogenesisGO:004273310.5MSX2, SHH
7embryonic hindlimb morphogenesisGO:003511610.5MSX2, SHH
8embryonic limb morphogenesisGO:003032610.5MSX2, SHH
9odontogenesisGO:004247610.5MSX2, SHH
10positive regulation of chondrocyte differentiationGO:003233210.4RUNX2, SOX9
11embryonic digestive tract morphogenesisGO:004855710.4SHH, TCF7
12branching involved in ureteric bud morphogenesisGO:000165810.3SHH, SOX9
13cell fate commitmentGO:004516510.3SHH, SOX9
14cell fate specificationGO:000170810.3SHH, SOX9
15epithelial tube branching involved in lung morphogenesisGO:006044110.3SHH, SOX9
16hair follicle developmentGO:000194210.3SHH, SOX9
17osteoblast differentiationGO:000164910.3CBFB, MSX2, RUNX2
18limb bud formationGO:006017410.3SHH, SOX9
19negative regulation of mesenchymal cell apoptotic processGO:200105410.3SHH, SOX9
20oligodendrocyte differentiationGO:004870910.3SHH, SOX9
21positive regulation of mesenchymal cell proliferationGO:000205310.3SHH, SOX9
22prostate gland developmentGO:003085010.3SHH, SOX9
23protein localization to nucleusGO:003450410.3SHH, SOX9
24embryonic forelimb morphogenesisGO:003511510.2MSX2, RUNX2, SHH
25osteoblast developmentGO:000207610.2MSX2, RUNX2, SHH
26cartilage developmentGO:005121610.0COL10A1, MSX2, SOX9
27regulation of cell proliferationGO:00421279.9SHH, SOX9, TCF7
28chondrocyte differentiationGO:00020629.8RUNX2, RUNX3, SOX9
29regulation of cell differentiationGO:00455959.8RUNX2, RUNX3, SOX9
30extracellular matrix organizationGO:00301989.6ACAN, COL10A1, SOX9
31central nervous system developmentGO:00074179.5ACAN, SHH, SOX9
32heart developmentGO:00075079.5ACAN, SHH, SOX9
33negative regulation of transcription from RNA polymerase II promoterGO:00001229.4MSX2, RUNX3, SHH, TCF7
34regulation of transcription from RNA polymerase II promoterGO:00063579.4RUNX2, RUNX3, SOX9, TCF7
35positive regulation of transcription, DNA-templatedGO:00458939.4RUNX2, RUNX3, SHH, SOX9
36chondrocyte developmentGO:00020639.3ACAN, MSX2, RUNX2, SOX9
37ossificationGO:00015039.2CBFB, MSX2, RUNX2, RUNX3, SOX9
38skeletal system developmentGO:00015019.1ACAN, COL10A1, RUNX2, SOX9
39transcription from RNA polymerase II promoterGO:00063668.7CBFB, RUNX2, RUNX3, SOX9
40regulation of transcription, DNA-templatedGO:00063558.5MSX2, RUNX2, RUNX3, SHH, SOX9, TCF7

Molecular functions related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:004342510.5RUNX2, SOX9
2RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.7RUNX2, RUNX3, SOX9
3transcription regulatory region DNA bindingGO:00442128.9MSX2, RUNX2, SOX9, TCF7
4transcription factor activity, sequence-specific DNA bindingGO:00037008.9CBFB, RUNX2, RUNX3, SOX9, TCF7
5DNA bindingGO:00036778.8CBFB, MSX2, RUNX2, RUNX3, SOX9, TCF7
6protein bindingGO:00055156.5ACAN, CBFB, COL10A1, FIG4, MSX2, RUNX2

Sources for Cleidocranial Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet