MCID: CLD001
MIFTS: 62

Cleidocranial Dysplasia

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

Aliases & Classifications for Cleidocranial Dysplasia

MalaCards integrated aliases for Cleidocranial Dysplasia:

Name: Cleidocranial Dysplasia 54 12 23 50 24 25 56 71 13 52 42 14 69
Cleidocranial Dysostosis 12 23 50 24 25 56 71 29
Marie-Sainton Disease 12 50
Clcd 50 71
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 54
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 54
Dysplasia Cleidocranial 50
Dento-Osseous Dysplasia 25
Marie-Sainton Syndrome 25
Ccd 71

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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
one third of patients represent new mutations


HPO:

32
cleidocranial dysplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



Summaries for Cleidocranial Dysplasia

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 short stature, scoliosis and recurrent respiratory infections. 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

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 25 Cleidocranial dysplasia is a condition that primarily affects 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 of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation. See 168550 for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (265800) and mandibuloacral dysplasia (248370) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis. Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder. (119600)

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.

Wikipedia : 72 Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a congenital disorder that... more...

GeneReviews: NBK1513

Related Diseases for Cleidocranial Dysplasia

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 top 50) (show all 55)
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 11.3
6 oculodentodigital dysplasia 11.1
7 cerebral creatine deficiency syndrome 2 10.8
8 night blindness, congenital stationary , 1b, autosomal recessive 10.5 MSX2 RUNX2
9 dyserythropoietic anemia and thrombocytopenia 10.4 CBFB RUNX2
10 ehlers-danlos syndrome, musculocontractural type 2 10.4 COL10A1 RUNX2
11 funisitis 10.3 MSX2 SHH
12 syringobulbia 10.2 RUNX2 SOX9
13 orbital granuloma 10.2 CBFB MSX2 RUNX2
14 cornea plana 10.2 CBFB MSX2 RUNX2
15 sulfite oxidase deficiency 10.2 COL10A1 RUNX2
16 hypophosphatasia 10.0
17 angelman syndrome due to imprinting defect in 15q11-q13 10.0 COL10A1 SOX9
18 persistent hyperplastic primary vitreous 10.0
19 bone resorption disease 9.9 ACAN RUNX2
20 single median maxillary central incisor 9.9 RUNX2 SHH
21 ischemic bone disease 9.9 MSX2 RUNX2 SOX9
22 cerebral hemorrhage 9.9 ACAN COL10A1
23 myeloid leukemia 9.9
24 leukemia 9.9
25 malignant hyperthermia susceptibility 9.9
26 diarrhea 9.9
27 root resorption 9.9
28 malignant hyperthermia 9.9
29 cheek mucosa cancer 9.8 CBFB RUNX2 RUNX3
30 parietal foramina 9.7
31 psoriasis 9.7
32 rickets 9.7
33 cleft lip 9.7
34 ovarian disease 9.7
35 von willebrand's disease 9.7
36 spondylo-megaepiphyseal-metaphyseal dysplasia 9.7
37 ehlers-danlos syndrome 9.7
38 thalassemia minor 9.7
39 atlantoaxial subluxation 9.7
40 hypothyroidism 9.7
41 dysostosis 9.7
42 holoprosencephaly 9.7
43 syringomyelia 9.7
44 myopathy 9.7
45 thalassemia 9.7
46 periodontitis 9.7
47 congenital hypothyroidism 9.7
48 intellectual disability 9.7
49 enamel caries 9.7
50 bone structure disease 9.6 ACAN SOX9

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



Diseases related to Cleidocranial Dysplasia

Symptoms & Phenotypes for Cleidocranial Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
kyphosis
spondylolysis
spondylolisthesis

Head And Neck- Face:
micrognathia
midface hypoplasia
frontal bossing
metopic groove

Skeletal- Skull:
wormian bones
calvarial thickening
absent frontal sinuses
hypoplastic frontal sinuses
bossing of frontal bone
more
Skeletal:
osteosclerosis
increased bone fragility

Neurologic- Peripheral Nervous System:
syringomyelia

Head And Neck- Ears:
deafness

Head And Neck- Nose:
low nasal bridge

Growth- Height:
short stature, moderate

Respiratory- Airways:
respiratory distress in early infancy

Skeletal- Hands:
brachydactyly
long second metacarpal
short middle phalanges of second and fifth fingers
cone-shaped phalangeal epiphyses

Head And Neck- Eyes:
hypertelorism

Head And Neck- Mouth:
cleft palate
narrow, high-arched palate

Chest- Ribs Sternum Clavicles And Scapulae:
short ribs
small scapula
hypoplastic clavicles
aplastic clavicles
cervical ribs

Head And Neck- Teeth:
delayed eruption of deciduous teeth
delayed eruption of permanent teeth
enamel hypoplasia
supernumerary teeth
retention cysts

Skeletal- Pelvis:
coxa vara
wide pubic symphysis
delayed mineralization of pubic bone
broad femoral head with short femoral neck
hypoplastic iliac wing

Chest- External Features:
narrow thorax
abnormal facility in opposing the shoulders

Head And Neck- Head:
delayed fontanelle closure
parietal bossing
anterior fontanelle open in adults


Clinical features from OMIM:

119600

Human phenotypes related to Cleidocranial Dysplasia:

56 32 (show top 50) (show all 91)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 recurrent respiratory infections 56 32 hallmark (90%) Very frequent (99-80%) HP:0002205
4 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
5 depressed nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0005280
6 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
7 wormian bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0002645
8 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
9 large fontanelles 56 32 hallmark (90%) Very frequent (99-80%) HP:0000239
10 sloping forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000340
11 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
12 osteoporosis 56 32 frequent (33%) Frequent (79-30%) HP:0000939
13 genu valgum 56 32 occasional (7.5%) Occasional (29-5%) HP:0002857
14 narrow chest 56 32 hallmark (90%) Very frequent (99-80%) HP:0000774
15 hypoplastic scapulae 56 32 occasional (7.5%) Occasional (29-5%) HP:0000882
16 macrocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000256
17 broad forehead 56 32 occasional (7.5%) Occasional (29-5%) HP:0000337
18 recurrent fractures 56 32 occasional (7.5%) Occasional (29-5%) HP:0002757
19 spina bifida occulta 56 32 frequent (33%) Frequent (79-30%) HP:0003298
20 brachycephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000248
21 midface retrusion 56 32 frequent (33%) Frequent (79-30%) HP:0011800
22 coxa vara 56 32 occasional (7.5%) Occasional (29-5%) HP:0002812
23 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
24 hypoplastic inferior ilia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008821
25 sleep apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0010535
26 short clavicles 56 32 hallmark (90%) Very frequent (99-80%) HP:0000894
27 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
28 glossoptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000162
29 chronic otitis media 56 32 frequent (33%) Frequent (79-30%) HP:0000389
30 decreased skull ossification 56 32 frequent (33%) Frequent (79-30%) HP:0004331
31 open bite 56 32 frequent (33%) Frequent (79-30%) HP:0010807
32 sinusitis 56 32 frequent (33%) Frequent (79-30%) HP:0000246
33 high, narrow palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0002705
34 carious teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000670
35 dystrophic fingernails 56 32 occasional (7.5%) Occasional (29-5%) HP:0008391
36 delayed eruption of teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000684
37 down-sloping shoulders 56 32 hallmark (90%) Very frequent (99-80%) HP:0200021
38 abnormality of epiphysis morphology 56 32 occasional (7.5%) Occasional (29-5%) HP:0005930
39 mandibular prognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000303
40 abnormality of the thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0001172
41 clinodactyly of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004209
42 abnormality of the metacarpal bones 56 32 frequent (33%) Frequent (79-30%) HP:0001163
43 increased number of teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0011069
44 abnormality of dental enamel 56 32 hallmark (90%) Very frequent (99-80%) HP:0000682
45 abnormality of the ribs 56 32 frequent (33%) Frequent (79-30%) HP:0000772
46 abnormality of the sacrum 56 32 frequent (33%) Frequent (79-30%) HP:0005107
47 tapered finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0001182
48 short face 56 32 frequent (33%) Frequent (79-30%) HP:0011219
49 dystrophic toenail 56 32 occasional (7.5%) Occasional (29-5%) HP:0001810
50 brachydactyly 32 frequent (33%) HP:0001156

MGI Mouse Phenotypes related to Cleidocranial Dysplasia:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.14 MSX2 RUNX2 RUNX3 SHH SOX9 CBFB
2 growth/size/body region MP:0005378 10.1 RUNX2 RUNX3 SHH SOX9 CBFB COL10A1
3 immune system MP:0005387 10.06 COL10A1 FIG4 MSX2 RUNX2 RUNX3 SHH
4 endocrine/exocrine gland MP:0005379 10.05 CBFB COL10A1 MSX2 RUNX2 RUNX3 SHH
5 cardiovascular system MP:0005385 10.02 CBFB FIG4 MSX2 RUNX2 SHH SOX9
6 hematopoietic system MP:0005397 10.02 CBFB COL10A1 FIG4 MSX2 RUNX2 RUNX3
7 limbs/digits/tail MP:0005371 10.01 CBFB COL10A1 FIG4 MSX2 RUNX2 RUNX3
8 digestive/alimentary MP:0005381 10 CBFB MSX2 RUNX2 RUNX3 SHH SOX9
9 integument MP:0010771 9.98 CBFB FIG4 MSX2 RUNX2 RUNX3 SHH
10 mortality/aging MP:0010768 9.97 CBFB COL10A1 FIG4 MSX2 RUNX2 RUNX3
11 nervous system MP:0003631 9.86 CBFB COL10A1 FIG4 MSX2 RUNX2 RUNX3
12 muscle MP:0005369 9.8 FIG4 MSX2 RUNX2 RUNX3 SHH SOX9
13 no phenotypic analysis MP:0003012 9.55 CBFB RUNX2 RUNX3 SHH SOX9
14 respiratory system MP:0005388 9.35 SOX9 CBFB RUNX2 RUNX3 SHH
15 skeleton MP:0005390 9.23 CBFB COL10A1 FIG4 MSX2 RUNX2 RUNX3

Drugs & Therapeutics for Cleidocranial Dysplasia

Search Clinical Trials , NIH Clinical Center for Cleidocranial Dysplasia

Cochrane evidence based reviews: cleidocranial dysplasia

Genetic Tests for Cleidocranial Dysplasia

Genetic tests related to Cleidocranial Dysplasia:

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

Anatomical Context for Cleidocranial Dysplasia

MalaCards organs/tissues related to Cleidocranial Dysplasia:

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

Publications for Cleidocranial Dysplasia

Articles related to Cleidocranial Dysplasia:

(show top 50) (show all 290)
id Title Authors Year
1
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. ( 28738062 )
2017
2
Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case. ( 28091408 )
2017
3
Anaesthetic management of an obstetric patient with cleidocranial dysplasia. ( 28801164 )
2017
4
Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. ( 28505335 )
2017
5
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia. ( 28173761 )
2017
6
Oral rehabilitation with implant-supported fixed dental prostheses of a patient with cleidocranial dysplasia. ( 28578077 )
2017
7
Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia. ( 28878609 )
2017
8
A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. ( 28703881 )
2017
9
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review. ( 28056872 )
2017
10
Orthodontic treatment of a patient with cleidocranial dysplasia: A case report. ( 27446262 )
2016
11
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation. ( 27272193 )
2016
12
Aesthetic Facial Correction of Cleidocranial Dysplasia. ( 28913260 )
2016
13
Cleidocranial dysplasia: A report of two cases with brief review. ( 27195196 )
2016
14
Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2. ( 27177937 )
2016
15
RUNX2 mutation impairs bone remodelling of dental follicle cells and periodontal ligament cells in patients with cleidocranial dysplasia. ( 27509906 )
2016
16
Case of the Month. Cleidocranial Dysplasia. ( 27116813 )
2016
17
Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families. ( 28027977 )
2016
18
Cleidocranial Dysplasia With 6p21.1-p12.3 Microdeletion: A Case Report and Literature Review. ( 27500518 )
2016
19
Cleidocranial dysplasia syndrome (CCD) with an unusual finding in a young patient. ( 26581700 )
2015
20
A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia. ( 25852448 )
2015
21
Cleidocranial dysplasia: family cases. ( 26757508 )
2015
22
Cleidocranial dysplasia with bilateral posterior glenohumeral dislocation: a case-report. ( 25592053 )
2015
23
Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient. ( 26389062 )
2015
24
Expression of RUNX2 and its signaling partners TCF7, FGFR1/2 in cleidocranial dysplasia. ( 25738174 )
2015
25
Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation. ( 26594640 )
2015
26
Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases. ( 26279653 )
2015
27
Orthognathic surgery in patients with cleidocranial dysplasia. ( 25974789 )
2015
28
Familial cleidocranial dysplasia misdiagnosed as rickets over three generations. ( 26286462 )
2015
29
Cone-beam computed tomography: An inevitable investigation in cleidocranial dysplasia. ( 26097368 )
2015
30
Early dental treatments for patients with cleidocranial dysplasia. ( 25815383 )
2015
31
Generation of cleidocranial dysplasia-specific human induced pluripotent stem cells in completely serum-, feeder-, and integration-free culture. ( 26559068 )
2015
32
Fabrication of lithium silicate ceramic veneers with a CAD/CAM approach: A clinical report of cleidocranial dysplasia. ( 25682532 )
2015
33
Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia. ( 26700323 )
2015
34
Restorative treatment strategies for patients with cleidocranial dysplasia. ( 25677164 )
2015
35
Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient. ( 26220009 )
2015
36
Abnormal differentiation of dental pulp cells in cleidocranial dysplasia. ( 25589510 )
2015
37
Histological examination and clinical evaluation of the jawbone of an adult patient with cleidocranial dysplasia: a case report. ( 26339428 )
2015
38
Cranioplasty Using a Modified Split Calvarial Graft Technique in Cleidocranial Dysplasia. ( 26279819 )
2015
39
A rare case of cleidocranial dysplasia presenting with failure to thrive. ( 25810671 )
2015
40
A review of clinical and radiological features of cleidocranial dysplasia with a report of two cases and a dental treatment protocol. ( 26538892 )
2015
41
Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia. ( 25755819 )
2015
42
Expansion of polyalanine tracts in the QA domain may play a critical role in the clavicular development of cleidocranial dysplasia. ( 26440098 )
2015
43
Combined surgical-orthodontic rehabilitation of cleidocranial dysplasia: 5 years follow-up. ( 26301237 )
2015
44
Novel complex disease allele mutations in cleidocranial dysplasia patients. ( 24935264 )
2014
45
Asymptomatic tonsillar herniation in a neonate with cleidocranial dysplasia. ( 24446448 )
2014
46
Progressive cognitive decline in an adult patient with cleidocranial dysplasia. ( 24797831 )
2014
47
A novel in-frame deletion of the RUNX2 gene causes a classic form of cleidocranial dysplasia. ( 23558979 )
2014
48
CbfI^ deletion in mice recapitulates cleidocranial dysplasia and reveals multiple functions of CbfI^ required for skeletal development. ( 24850862 )
2014
49
[Identification of three novel frameshift mutations in the RUNX2 gene in three sporadic Chinese cases with cleidocranial dysplasia]. ( 25119901 )
2014
50
Cleidocranial dysplasia. ( 25937737 )
2014

Variations for Cleidocranial Dysplasia

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

71 (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 15)
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
15 RUNX2 NC_000006.12: g.45512244G> A single nucleotide variant Pathogenic GRCh38 Chromosome 6, 45512244: 45512244

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

Expression for Cleidocranial Dysplasia

Search GEO for disease gene expression data for Cleidocranial Dysplasia.

Pathways for Cleidocranial Dysplasia

GO Terms for Cleidocranial Dysplasia

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 39)
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 9.92 CBFB RUNX2 RUNX3 SOX9
4 regulation of transcription from RNA polymerase II promoter GO:0006357 9.88 RUNX2 RUNX3 SOX9 TCF7
5 regulation of cell proliferation GO:0042127 9.82 SHH SOX9 TCF7
6 heart development GO:0007507 9.82 ACAN SHH SOX9
7 extracellular matrix organization GO:0030198 9.78 ACAN COL10A1 SOX9
8 central nervous system development GO:0007417 9.69 ACAN SHH SOX9
9 positive regulation of osteoblast differentiation GO:0045669 9.68 MSX2 RUNX2
10 odontogenesis of dentin-containing tooth GO:0042475 9.68 RUNX2 SHH
11 cell fate commitment GO:0045165 9.67 SHH SOX9
12 embryonic limb morphogenesis GO:0030326 9.67 MSX2 SHH
13 osteoblast differentiation GO:0001649 9.67 CBFB MSX2 RUNX2
14 branching involved in ureteric bud morphogenesis GO:0001658 9.66 SHH SOX9
15 hair follicle development GO:0001942 9.65 SHH SOX9
16 cell maturation GO:0048469 9.65 CBFB RUNX2
17 odontogenesis GO:0042476 9.64 MSX2 SHH
18 stem cell differentiation GO:0048863 9.63 MSX2 RUNX2
19 protein localization to nucleus GO:0034504 9.63 SHH SOX9
20 cartilage development GO:0051216 9.63 COL10A1 MSX2 SOX9
21 skeletal system development GO:0001501 9.62 ACAN COL10A1 RUNX2 SOX9
22 oligodendrocyte differentiation GO:0048709 9.61 SHH SOX9
23 positive regulation of mesenchymal cell proliferation GO:0002053 9.6 SHH SOX9
24 embryonic hindlimb morphogenesis GO:0035116 9.59 MSX2 SHH
25 endochondral ossification GO:0001958 9.58 COL10A1 RUNX2
26 chondrocyte differentiation GO:0002062 9.58 RUNX2 RUNX3 SOX9
27 embryonic digestive tract morphogenesis GO:0048557 9.57 SHH TCF7
28 positive regulation of chondrocyte differentiation GO:0032332 9.56 RUNX2 SOX9
29 cell fate specification GO:0001708 9.55 SHH SOX9
30 prostate gland development GO:0030850 9.54 SHH SOX9
31 regulation of cell differentiation GO:0045595 9.54 RUNX2 RUNX3 SOX9
32 epithelial tube branching involved in lung morphogenesis GO:0060441 9.52 SHH SOX9
33 limb bud formation GO:0060174 9.48 SHH SOX9
34 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.43 SHH SOX9
35 embryonic forelimb morphogenesis GO:0035115 9.43 MSX2 RUNX2 SHH
36 ossification GO:0001503 9.35 CBFB MSX2 RUNX2 RUNX3 SOX9
37 osteoblast development GO:0002076 9.33 MSX2 RUNX2 SHH
38 chondrocyte development GO:0002063 8.92 ACAN MSX2 RUNX2 SOX9
39 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 for Cleidocranial Dysplasia

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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