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CLCD
MCID: CLD001
MIFTS: 62

Cleidocranial Dysplasia (CLCD) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Cleidocranial Dysplasia

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Aliases & Descriptions for Cleidocranial Dysplasia:

Name: Cleidocranial Dysplasia 54 12 23 50 24 25 56 66 13 52 42 14 69
Cleidocranial Dysostosis 12 23 50 24 25 56 66 29
Marie-Sainton Disease 12 50
Clcd 50 66
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 54
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 54
Dysplasia Cleidocranial 50
Marie-Sainton Syndrome 25
Ccd 66

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
cleidocranial dysplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 56  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM 54 119600
Disease Ontology 12 DOID:13994
ICD10 33 Q74.0
MeSH 42 D002973
NCIt 47 C75020
SNOMED-CT 64 240193006 65976001
Orphanet 56 ORPHA1452
MESH via Orphanet 43 D002973
UMLS via Orphanet 70 C0008928
ICD10 via Orphanet 34 Q74.0
UMLS 69 C0008928
Sources

Summaries for Cleidocranial Dysplasia

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NIH Rare Diseases : 50 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 macrocephaly, hypertelorism and frontal bossing. An important gene associated with Cleidocranial Dysplasia is RUNX2 (Runt Related Transcription Factor 2), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, eye and myeloid, and related phenotypes are craniofacial and growth/size/body region

Disease Ontology : 12 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 : 54 The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia... (119600) more...

UniProtKB/Swiss-Prot : 66 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: NBK1513
Sources

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)
id Related Disease Score Top Affiliating Genes
1 parietal foramina with cleidocranial dysplasia 12.4
2 central core disease 11.9
3 cleidocranial dysplasia recessive form 11.9
4 yunis-varon syndrome 11.8
5 congenital chloride diarrhea 10.9
6 cerebral creatine deficiency syndrome 2 10.8
7 leukotriene c4 synthase deficiency 10.2 MSX2 RUNX2
8 arterial calcification, generalized, of infancy, 1 10.2 COL10A1 RUNX2
9 familial hyperaldosteronism 10.2 CBFB RUNX2
10 t cell immunodeficiency primary 10.1 RUNX2 SOX9
11 13q12.3 microdeletion syndrome 10.1 COL10A1 SOX9
12 neuropathy, distal hereditary motor, type iia 10.1 COL10A1 RUNX2
13 microphthalmia with coloboma 5 10.1 RUNX2 SHH
14 dressler's syndrome 10.1 CBFB MSX2 RUNX2
15 cerebral palsy 10.1 ACAN COL10A1
16 bone structure disease 10.0 MSX2 RUNX2 SOX9
17 chromosomal disease 10.0 ACAN RUNX2
18 milker's nodule 10.0 CBFB RUNX2 RUNX3
19 bone resorption disease 10.0 ACAN SOX9
20 hypophosphatasia 10.0
21 thanatophoric dysplasia, type i 9.9 ACAN SOX9
22 leukemia 9.9
23 myeloid leukemia 9.9
24 malignant adult ependymoma 9.9 ACAN RUNX2
25 dentin dysplasia 9.9 ACAN SOX9
26 root resorption 9.9
27 malignant hyperthermia 9.9
28 malignant hyperthermia susceptibility 9.9
29 ovarian disease 9.7
30 von willebrand's disease 9.7
31 ehlers-danlos syndrome 9.7
32 thalassemia minor 9.7
33 atlantoaxial subluxation 9.7
34 spondylo-megaepiphyseal-metaphyseal dysplasia 9.7
35 hypothyroidism 9.7
36 dysostosis 9.7
37 syringomyelia 9.7
38 myopathy 9.7
39 periodontitis 9.7
40 holoprosencephaly 9.7
41 thalassemia 9.7
42 psoriasis 9.7
43 congenital hypothyroidism 9.7
44 cleft lip 9.7
45 rickets 9.7
46 intellectual disability 9.7
47 enamel caries 9.7
48 trichohepatoenteric syndrome 2 8.6 ACAN CBFB COL10A1 FIG4 MSX2 RUNX2

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



Diseases related to Cleidocranial Dysplasia
Sources

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:

56 32 (show top 50) (show all 89)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 Occasional (29-5%) HP:0000256
2 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
3 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
4 genu valgum 56 32 Occasional (29-5%) HP:0002857
5 abnormality of epiphysis morphology 56 32 Occasional (29-5%) HP:0005930
6 scoliosis 56 32 Occasional (29-5%) HP:0002650
7 sleep apnea 56 32 Occasional (29-5%) HP:0010535
8 mandibular prognathia 56 32 Frequent (79-30%) HP:0000303
9 hearing impairment 56 32 Frequent (79-30%) HP:0000365
10 chronic otitis media 56 32 Frequent (79-30%) HP:0000389
11 recurrent respiratory infections 56 32 Very frequent (99-80%) HP:0002205
12 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
13 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
14 hypoplastic inferior ilia 56 32 Very frequent (99-80%) HP:0008821
15 open bite 56 32 Frequent (79-30%) HP:0010807
16 carious teeth 56 32 Very frequent (99-80%) HP:0000670
17 short stature 56 32 Very frequent (99-80%) HP:0004322
18 osteoporosis 56 32 Frequent (79-30%) HP:0000939
19 brachycephaly 56 32 Occasional (29-5%) HP:0000248
20 glossoptosis 56 32 Occasional (29-5%) HP:0000162
21 cleft palate 56 32 Occasional (29-5%) HP:0000175
22 micrognathia 56 32 Very frequent (99-80%) HP:0000347
23 abnormality of the thumb 56 32 Occasional (29-5%) HP:0001172
24 sinusitis 56 32 Frequent (79-30%) HP:0000246
25 delayed eruption of teeth 56 32 Frequent (79-30%) HP:0000684
26 narrow chest 56 32 Very frequent (99-80%) HP:0000774
27 wormian bones 56 32 Very frequent (99-80%) HP:0002645
28 high, narrow palate 56 32 Very frequent (99-80%) HP:0002705
29 broad forehead 56 32 Occasional (29-5%) HP:0000337
30 clinodactyly of the 5th finger 56 32 Occasional (29-5%) HP:0004209
31 abnormality of the metacarpal bones 56 32 Frequent (79-30%) HP:0001163
32 increased number of teeth 56 32 Very frequent (99-80%) HP:0011069
33 brachydactyly syndrome 56 32 Frequent (79-30%) HP:0001156
34 abnormality of dental enamel 56 32 Very frequent (99-80%) HP:0000682
35 abnormality of the ribs 56 32 Frequent (79-30%) HP:0000772
36 recurrent fractures 56 32 Occasional (29-5%) HP:0002757
37 spina bifida occulta 56 32 Frequent (79-30%) HP:0003298
38 down-sloping shoulders 56 32 Very frequent (99-80%) HP:0200021
39 midface retrusion 56 32 Frequent (79-30%) HP:0011800
40 large fontanelles 56 32 Very frequent (99-80%) HP:0000239
41 coxa vara 56 32 Occasional (29-5%) HP:0002812
42 abnormality of the sacrum 56 32 Frequent (79-30%) HP:0005107
43 tapered finger 56 32 Occasional (29-5%) HP:0001182
44 sloping forehead 56 32 Very frequent (99-80%) HP:0000340
45 short face 56 32 Frequent (79-30%) HP:0011219
46 dystrophic toenail 56 32 Occasional (29-5%) HP:0001810
47 hypoplastic scapulae 56 32 Occasional (29-5%) HP:0000882
48 short clavicles 56 32 Very frequent (99-80%) HP:0000894
49 decreased skull ossification 56 32 Frequent (79-30%) HP:0004331
50 dystrophic fingernails 56 32 Occasional (29-5%) HP:0008391

MGI Mouse Phenotypes related to Cleidocranial Dysplasia:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.15 CBFB COL10A1 FIG4 MSX2 RUNX2 RUNX3
2 growth/size/body region MP:0005378 10.11 CBFB COL10A1 FIG4 MSX2 RUNX2 RUNX3
3 immune system MP:0005387 10.08 CBFB COL10A1 FIG4 MSX2 RUNX2 RUNX3
4 endocrine/exocrine gland MP:0005379 10.07 CBFB COL10A1 MSX2 RUNX2 RUNX3 SHH
5 hematopoietic system MP:0005397 10.04 CBFB COL10A1 FIG4 MSX2 RUNX2 RUNX3
6 cardiovascular system MP:0005385 10.03 SHH SOX9 CBFB FIG4 MSX2 RUNX2
7 limbs/digits/tail MP:0005371 10.03 CBFB COL10A1 FIG4 MSX2 RUNX2 RUNX3
8 digestive/alimentary MP:0005381 10.01 CBFB MSX2 RUNX2 RUNX3 SHH SOX9
9 mortality/aging MP:0010768 10.01 CBFB COL10A1 FIG4 MSX2 RUNX2 RUNX3
10 integument MP:0010771 10 CBFB FIG4 MSX2 RUNX2 RUNX3 SHH
11 nervous system MP:0003631 9.92 SOX9 CBFB COL10A1 FIG4 MSX2 RUNX2
12 muscle MP:0005369 9.85 FIG4 MSX2 RUNX2 RUNX3 SHH SOX9
13 no phenotypic analysis MP:0003012 9.65 CBFB RUNX2 RUNX3 SHH SOX9
14 skeleton MP:0005390 9.56 CBFB COL10A1 FIG4 MSX2 RUNX2 RUNX3
15 respiratory system MP:0005388 9.55 CBFB RUNX2 RUNX3 SHH SOX9
16 vision/eye MP:0005391 9.02 CBFB MSX2 RUNX2 SHH SOX9
Sources

Drugs & Therapeutics for Cleidocranial Dysplasia

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Search Clinical Trials , NIH Clinical Center for Cleidocranial Dysplasia

Cochrane evidence based reviews: cleidocranial dysplasia

Sources

Genetic Tests for Cleidocranial Dysplasia

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Genetic tests related to Cleidocranial Dysplasia:

id Genetic test Affiliating Genes
1 Cleidocranial Dysostosis 29
2 Cleidocranial Dysplasia 24 RUNX2
Sources

Anatomical Context for Cleidocranial Dysplasia

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MalaCards organs/tissues related to Cleidocranial Dysplasia:

39
Bone, Eye, Myeloid, Kidney, Uterus, B Cells

The Foundational Model of Anatomy Ontology organs/tissues related to Cleidocranial Dysplasia:

18
Skull, Clavicle
Sources

Publications for Cleidocranial Dysplasia

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Articles related to Cleidocranial Dysplasia:

(show top 50) (show all 284)
id Title Authors Year
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
Sources

Variations for Cleidocranial Dysplasia

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

66 (show all 45)
id Symbol AA change Variation ID SNP ID
1 RUNX2 p.Leu113Arg VAR_012132
2 RUNX2 p.Ser118Arg VAR_012133
3 RUNX2 p.Phe121Cys VAR_012134
4 RUNX2 p.Cys123Arg VAR_012135
5 RUNX2 p.Arg169Gln VAR_012137 rs104893995
6 RUNX2 p.Met175Arg VAR_012138 rs104893989
7 RUNX2 p.Arg190Gln VAR_012139
8 RUNX2 p.Arg190Trp VAR_012140
9 RUNX2 p.Ser191Asn VAR_012141 rs104893990
10 RUNX2 p.Arg193Cys VAR_012142
11 RUNX2 p.Phe197Ser VAR_012143
12 RUNX2 p.Leu199Phe VAR_012144
13 RUNX2 p.Thr200Ala VAR_012145 rs104893993
14 RUNX2 p.Thr205Arg VAR_012146
15 RUNX2 p.Gln209Arg VAR_012147
16 RUNX2 p.Arg225Gln VAR_012148 rs104893991
17 RUNX2 p.Arg225Trp VAR_012149 rs104893992
18 RUNX2 p.Gln53Leu VAR_064081
19 RUNX2 p.Ser118Asn VAR_064082
20 RUNX2 p.Arg131Cys VAR_064083
21 RUNX2 p.Arg131Gly VAR_064084
22 RUNX2 p.Arg131Ser VAR_064085
23 RUNX2 p.Leu136Pro VAR_064086
24 RUNX2 p.Val156Asp VAR_064087
25 RUNX2 p.Val156Gly VAR_064088
26 RUNX2 p.Arg169Pro VAR_064089 rs104893995
27 RUNX2 p.Met175Lys VAR_064090
28 RUNX2 p.Met175Val VAR_064091 rs201647225
29 RUNX2 p.Phe187Ser VAR_064092
30 RUNX2 p.Arg193Gln VAR_064093
31 RUNX2 p.Thr200Ile VAR_064094
32 RUNX2 p.Ile201Lys VAR_064095
33 RUNX2 p.Gln209His VAR_064096
34 RUNX2 p.Ala211Pro VAR_064097
35 RUNX2 p.Lys218Glu VAR_064098
36 RUNX2 p.Lys218Asn VAR_064099 rs752933596
37 RUNX2 p.Lys218Gln VAR_064100
38 RUNX2 p.Thr220Ile VAR_064101
39 RUNX2 p.Arg225Leu VAR_064102
40 RUNX2 p.Arg228Gly VAR_064103
41 RUNX2 p.Lys233Arg VAR_064104
42 RUNX2 p.Asp287Asn VAR_064105
43 RUNX2 p.Ala362Val VAR_064106
44 RUNX2 p.Thr420Ile VAR_064107
45 RUNX2 p.Thr420Asn VAR_064108

ClinVar genetic disease variations for Cleidocranial Dysplasia:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 RUNX2 NM_001024630.3(RUNX2) indel Pathogenic rs730880313 GRCh38 Chromosome 6, 45422723: 45422737
2 RUNX2 NM_001024630.3(RUNX2): c.891G> A (p.Trp297Ter) single nucleotide variant Pathogenic rs104893988 GRCh37 Chromosome 6, 45480014: 45480014
3 RUNX2 NM_001024630.3(RUNX2) duplication Pathogenic rs606231174 GRCh37 Chromosome 6, 45390494: 45390523
4 RUNX2 NM_001024630.3(RUNX2): c.524T> G (p.Met175Arg) single nucleotide variant Pathogenic rs104893989 GRCh37 Chromosome 6, 45399700: 45399700
5 RUNX2 NM_001024630.3(RUNX2): c.572G> A (p.Ser191Asn) single nucleotide variant Pathogenic rs104893990 GRCh37 Chromosome 6, 45399748: 45399748
6 RUNX2 NM_001024630.3(RUNX2): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs104893991 GRCh37 Chromosome 6, 45405777: 45405777
7 RUNX2 NM_001024630.3(RUNX2): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs104893992 GRCh37 Chromosome 6, 45405776: 45405776
8 RUNX2 NM_001024630.3(RUNX2): c.598A> G (p.Thr200Ala) single nucleotide variant Pathogenic rs104893993 GRCh37 Chromosome 6, 45405701: 45405701
9 RUNX2 NM_001024630.3(RUNX2): c.1565G> C (p.Ter522Ser) single nucleotide variant Pathogenic rs104893994 GRCh37 Chromosome 6, 45515041: 45515041
10 RUNX2 NM_001024630.3(RUNX2): c.506G> C (p.Arg169Pro) single nucleotide variant Pathogenic rs104893995 GRCh37 Chromosome 6, 45399682: 45399682
11 RUNX2 NM_001024630.3(RUNX2): c.1228dupC (p.Leu410Profs) duplication Pathogenic rs730880315 GRCh37 Chromosome 6, 45514704: 45514704
12 RUNX2 NM_001024630.3(RUNX2): c.1171C> T (p.Arg391Ter) single nucleotide variant Pathogenic rs397515537 GRCh37 Chromosome 6, 45514647: 45514647
13 RUNX2 NM_001024630.3(RUNX2): c.90dupC (p.Ser31Leufs) duplication Pathogenic rs397515538 GRCh37 Chromosome 6, 45390361: 45390361
14 RUNX2 NM_001015051.3(RUNX2): c.476G> A (p.Gly159Asp) single nucleotide variant Pathogenic rs864621970 GRCh37 Chromosome 6, 45399652: 45399652

Copy number variations for Cleidocranial Dysplasia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 210237 6 29900000 45200000 Deletion RUNX2 Cleidocranial dysplasia
2 213416 6 45404031 45626797 Microdeletion RUNX2 Cleidocranial dysplasia
Sources

Expression for Cleidocranial Dysplasia

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Search GEO for disease gene expression data for Cleidocranial Dysplasia.
Sources

Pathways for Cleidocranial Dysplasia

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Pathways related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Wnt / Hedgehog / Notch 4
11.59 RUNX3 SHH TCF7
2
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 61
11.24 ACAN MSX2 RUNX2 SOX9
3
TGF-beta Receptor Signaling (WikiPathways) 1
11.13 RUNX2 RUNX3
4
Deactivation of the beta-catenin transactivating complex 62
10.96 SOX9 TCF7
5
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 21
10.85 RUNX2 SHH
6
Endochondral Ossification 1
10.83 ACAN COL10A1 RUNX2 RUNX3 SOX9
Sources

GO Terms for Cleidocranial Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.8 RUNX2 SOX9 TCF7

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

(show all 40)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.96 MSX2 RUNX3 SHH TCF7
2 positive regulation of transcription, DNA-templated GO:0045893 9.92 RUNX2 RUNX3 SHH SOX9
3 transcription from RNA polymerase II promoter GO:0006366 9.91 CBFB RUNX2 RUNX3 SOX9
4 regulation of transcription from RNA polymerase II promoter GO:0006357 9.88 RUNX2 RUNX3 SOX9 TCF7
5 heart development GO:0007507 9.82 ACAN SHH SOX9
6 regulation of cell proliferation GO:0042127 9.82 SHH SOX9 TCF7
7 extracellular matrix organization GO:0030198 9.79 ACAN COL10A1 SOX9
8 central nervous system development GO:0007417 9.7 ACAN SHH SOX9
9 osteoblast differentiation GO:0001649 9.69 CBFB MSX2 RUNX2
10 embryonic digit morphogenesis GO:0042733 9.68 MSX2 SHH
11 odontogenesis of dentin-containing tooth GO:0042475 9.68 RUNX2 SHH
12 cell fate commitment GO:0045165 9.68 SHH SOX9
13 positive regulation of osteoblast differentiation GO:0045669 9.67 MSX2 RUNX2
14 embryonic limb morphogenesis GO:0030326 9.67 MSX2 SHH
15 branching involved in ureteric bud morphogenesis GO:0001658 9.66 SHH SOX9
16 hair follicle development GO:0001942 9.65 SHH SOX9
17 cell maturation GO:0048469 9.65 CBFB RUNX2
18 protein localization to nucleus GO:0034504 9.64 SHH SOX9
19 odontogenesis GO:0042476 9.63 MSX2 SHH
20 stem cell differentiation GO:0048863 9.63 MSX2 RUNX2
21 cartilage development GO:0051216 9.63 COL10A1 MSX2 SOX9
22 oligodendrocyte differentiation GO:0048709 9.62 SHH SOX9
23 skeletal system development GO:0001501 9.62 ACAN COL10A1 RUNX2 SOX9
24 embryonic hindlimb morphogenesis GO:0035116 9.6 MSX2 SHH
25 positive regulation of mesenchymal cell proliferation GO:0002053 9.59 SHH SOX9
26 endochondral ossification GO:0001958 9.58 COL10A1 RUNX2
27 regulation of cell differentiation GO:0045595 9.58 RUNX2 RUNX3 SOX9
28 positive regulation of chondrocyte differentiation GO:0032332 9.57 RUNX2 SOX9
29 embryonic digestive tract morphogenesis GO:0048557 9.56 SHH TCF7
30 epithelial tube branching involved in lung morphogenesis GO:0060441 9.55 SHH SOX9
31 cell fate specification GO:0001708 9.54 SHH SOX9
32 chondrocyte differentiation GO:0002062 9.54 RUNX2 RUNX3 SOX9
33 prostate gland development GO:0030850 9.49 SHH SOX9
34 limb bud formation GO:0060174 9.48 SHH SOX9
35 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.43 SHH SOX9
36 embryonic forelimb morphogenesis GO:0035115 9.43 MSX2 RUNX2 SHH
37 ossification GO:0001503 9.35 CBFB MSX2 RUNX2 RUNX3 SOX9
38 osteoblast development GO:0002076 9.33 MSX2 RUNX2 SHH
39 chondrocyte development GO:0002063 8.92 ACAN MSX2 RUNX2 SOX9
40 regulation of transcription, DNA-templated GO:0006355 10.15 MSX2 RUNX2 RUNX3 SHH SOX9 TCF7

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.85 CBFB MSX2 RUNX2 RUNX3 SOX9 TCF7
2 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.43 RUNX2 RUNX3 SOX9
3 transcription factor activity, sequence-specific DNA binding GO:0003700 9.35 CBFB RUNX2 RUNX3 SOX9 TCF7
4 bHLH transcription factor binding GO:0043425 9.16 RUNX2 SOX9
5 transcription regulatory region DNA binding GO:0044212 8.92 MSX2 RUNX2 SOX9 TCF7
6 protein binding GO:0005515 10.02 ACAN CBFB COL10A1 FIG4 MSX2 RUNX2
Sources

Sources for Cleidocranial Dysplasia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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