MCID: CLD001
MIFTS: 63

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 53 12 72 49 24 55 71 36 13 51 41 14 69
Cleidocranial Dysostosis 53 12 72 49 24 55 71 28
Clcd 53 49 71
Marie-Sainton Disease 12 49
Ccd 53 71
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 53
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 53
Cleidocranial Dysostosis; Clcd 53
Dysplasia Cleidocranial 49
Dento-Osseous Dysplasia 24
Marie-Sainton Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal dominant

Miscellaneous:
one third of patients represent new mutations


HPO:

31
cleidocranial dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cleidocranial Dysplasia

NIH Rare Diseases : 49 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 parietal foramina, 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, myeloid and kidney, and related phenotypes are craniofacial and growth/size/body region

OMIM : 53 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)

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 : 24 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.

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.

Related Diseases for Cleidocranial Dysplasia

Diseases in the Cleidocranial Dysplasia family:

Cleidocranial Dysplasia, Recessive Form Cleidocranial Dysplasia Spectrum Disorder

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 parietal foramina with cleidocranial dysplasia 34.3 MSX2 RUNX2
2 parietal foramina 29.8 CBFB MSX2 RUNX2
3 myeloid leukemia 29.7 CBFB RUNX2 RUNX3
4 leukemia, acute myeloid 29.6 CBFB RUNX2 RUNX3
5 cleidocranial dysplasia spectrum disorder 12.2
6 central core disease of muscle 12.1
7 cleidocranial dysplasia, recessive form 12.1
8 yunis-varon syndrome 12.0
9 congenital chloride diarrhea 11.7
10 oculodentodigital dysplasia 11.3
11 cerebral creatine deficiency syndrome 2 10.9
12 core binding factor acute myeloid leukemia 10.3 CBFB RUNX2
13 metaphyseal chondrodysplasia, schmid type 10.3 COL10A1 RUNX2
14 teeth, supernumerary 10.1
15 synovial chondromatosis 10.1 RUNX2 SOX9
16 spondyloepiphyseal dysplasia congenita 10.1 COL10A1 RUNX2
17 persistent hyperplastic primary vitreous 10.0
18 hypophosphatasia 10.0
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
20 leukemia 10.0
21 diarrhea 1, secretory chloride, congenital 10.0
22 diarrhea 10.0
23 root resorption 10.0
24 malignant hyperthermia 10.0
25 malignant hyperthermia susceptibility 10.0
26 chondromyxoid fibroma 10.0 COL10A1 SOX9
27 ischemic bone disease 9.9 ACAN RUNX2
28 holoprosencephaly 3 9.9 RUNX2 SHH
29 bone development disease 9.9 MSX2 RUNX2 SOX9
30 cartilage disease 9.9 ACAN COL10A1
31 cataract 5, multiple types 9.8
32 pyle disease 9.8
33 aging 9.8
34 spondylo-megaepiphyseal-metaphyseal dysplasia 9.8
35 beta-thalassemia 9.8
36 holoprosencephaly 9.8
37 thalassemia 9.8
38 congenital hypothyroidism 9.8
39 rickets 9.8
40 ovarian disease 9.8
41 von willebrand's disease 9.8
42 ehlers-danlos syndrome 9.8
43 hypothyroidism 9.8
44 dysostosis 9.8
45 bilirubin metabolic disorder 9.8
46 syringomyelia 9.8
47 myopathy 9.8
48 pustulosis of palm and sole 9.8
49 periodontitis 9.8
50 psoriasis 9.8

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:

53
Head And Neck Eyes:
hypertelorism

Skeletal Spine:
scoliosis
kyphosis
spondylolisthesis
spondylolysis

Skeletal Skull:
wormian bones
hypoplastic frontal sinuses
absent frontal sinuses
bossing of frontal bone
bossing of occipital bone
more
Skeletal Hands:
brachydactyly
long second metacarpal
short middle phalanges of second and fifth fingers
cone-shaped phalangeal epiphyses

Neurologic Peripheral Nervous System:
syringomyelia

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

Head And Neck Ears:
deafness

Growth Height:
short stature, moderate

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

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

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

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

Chest RibsSternum Clavicles And Scapulae:
cervical ribs
aplastic clavicles
short ribs
small scapula
hypoplastic clavicles

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

Head And Neck Nose:
low nasal bridge

Skeletal:
osteosclerosis
increased bone fragility

Respiratory Airways:
respiratory distress in early infancy


Clinical features from OMIM:

119600

Human phenotypes related to Cleidocranial Dysplasia:

55 31 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000256
2 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
4 genu valgum 55 31 occasional (7.5%) Occasional (29-5%) HP:0002857
5 abnormality of epiphysis morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0005930
6 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
7 sleep apnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0010535
8 mandibular prognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000303
9 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
10 chronic otitis media 55 31 frequent (33%) Frequent (79-30%) HP:0000389
11 recurrent respiratory infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0002205
12 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002652
13 depressed nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0005280
14 hypoplastic inferior ilia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008821
15 open bite 55 31 frequent (33%) Frequent (79-30%) HP:0010807
16 carious teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000670
17 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
18 osteoporosis 55 31 frequent (33%) Frequent (79-30%) HP:0000939
19 brachycephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000248
20 glossoptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000162
21 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
22 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
23 abnormality of the thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0001172
24 sinusitis 55 31 frequent (33%) Frequent (79-30%) HP:0000246
25 delayed eruption of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000684
26 narrow chest 55 31 hallmark (90%) Very frequent (99-80%) HP:0000774
27 wormian bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0002645
28 high, narrow palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0002705
29 broad forehead 55 31 occasional (7.5%) Occasional (29-5%) HP:0000337
30 clinodactyly of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004209
31 abnormality of the metacarpal bones 55 31 frequent (33%) Frequent (79-30%) HP:0001163
32 increased number of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0011069
33 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
34 abnormality of dental enamel 55 31 hallmark (90%) Very frequent (99-80%) HP:0000682
35 abnormality of the ribs 55 31 frequent (33%) Frequent (79-30%) HP:0000772
36 recurrent fractures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002757
37 spina bifida occulta 55 31 frequent (33%) Frequent (79-30%) HP:0003298
38 down-sloping shoulders 55 31 hallmark (90%) Very frequent (99-80%) HP:0200021
39 midface retrusion 55 31 frequent (33%) Frequent (79-30%) HP:0011800
40 large fontanelles 55 31 hallmark (90%) Very frequent (99-80%) HP:0000239
41 coxa vara 55 31 occasional (7.5%) Occasional (29-5%) HP:0002812
42 abnormality of the sacrum 55 31 frequent (33%) Frequent (79-30%) HP:0005107
43 tapered finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0001182
44 sloping forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000340
45 short face 55 31 frequent (33%) Frequent (79-30%) HP:0011219
46 dystrophic toenail 55 31 occasional (7.5%) Occasional (29-5%) HP:0001810
47 hypoplastic scapulae 55 31 occasional (7.5%) Occasional (29-5%) HP:0000882
48 short clavicles 55 31 hallmark (90%) Very frequent (99-80%) HP:0000894
49 decreased skull ossification 55 31 frequent (33%) Frequent (79-30%) HP:0004331
50 dystrophic fingernails 55 31 occasional (7.5%) Occasional (29-5%) HP:0008391

MGI Mouse Phenotypes related to Cleidocranial Dysplasia:

43 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.14 RUNX2 RUNX3 SHH SOX9 CBFB COL10A1
2 growth/size/body region MP:0005378 10.1 CBFB COL10A1 FIG4 MSX2 RUNX2 RUNX3
3 immune system MP:0005387 10.06 MSX2 RUNX2 RUNX3 SHH SOX9 CBFB
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 SOX9 CBFB COL10A1 FIG4 MSX2 RUNX2
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 CBFB RUNX2 RUNX3 SHH SOX9
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:

# Genetic test Affiliating Genes
1 Cleidocranial Dysostosis 28 RUNX2

Anatomical Context for Cleidocranial Dysplasia

MalaCards organs/tissues related to Cleidocranial Dysplasia:

38
Bone, Myeloid, Kidney, Uterus, B Cells

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

18
Skull, Clavicle

Publications for Cleidocranial Dysplasia

Articles related to Cleidocranial Dysplasia:

(show top 50) (show all 295)
# Title Authors Year
1
Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model. ( 29357927 )
2018
2
A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. ( 28703881 )
2017
3
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. ( 28738062 )
2017
4
A novel gene mutation of Runx2 in cleidocranial dysplasia. ( 29058294 )
2017
5
Multidisciplinary team approach in the oral rehabilitation of patients with cleidocranial dysplasia to achieve a functional aesthetic outcome. ( 28964668 )
2017
6
Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case. ( 28091408 )
2017
7
A novel 18-bp in-frame deletion mutation in RUNX2 causes cleidocranial dysplasia. ( 29089101 )
2017
8
Cleidocranial Dysplasia: A Review of Clinical, Radiological, Genetic Implications and a Guidelines Proposal. ( 29189406 )
2017
9
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia. ( 28173761 )
2017
10
Anaesthetic management of an obstetric patient with cleidocranial dysplasia. ( 28801164 )
2017
11
Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. ( 28505335 )
2017
12
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review. ( 28056872 )
2017
13
Oral rehabilitation with implant-supported fixed dental prostheses of a patient with cleidocranial dysplasia. ( 28578077 )
2017
14
Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia. ( 28878609 )
2017
15
Cleidocranial dysplasia: A report of two cases with brief review. ( 27195196 )
2016
16
Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families. ( 28027977 )
2016
17
Orthodontic treatment of a patient with cleidocranial dysplasia: A case report. ( 27446262 )
2016
18
Aesthetic Facial Correction of Cleidocranial Dysplasia. ( 28913260 )
2016
19
Cleidocranial Dysplasia With 6p21.1-p12.3 Microdeletion: A Case Report and Literature Review. ( 27500518 )
2016
20
Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2. ( 27177937 )
2016
21
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation. ( 27272193 )
2016
22
RUNX2 mutation impairs bone remodelling of dental follicle cells and periodontal ligament cells in patients with cleidocranial dysplasia. ( 27509906 )
2016
23
Case of the Month. Cleidocranial Dysplasia. ( 27116813 )
2016
24
Cleidocranial dysplasia with bilateral posterior glenohumeral dislocation: a case-report. ( 25592053 )
2015
25
Cone-beam computed tomography: An inevitable investigation in cleidocranial dysplasia. ( 26097368 )
2015
26
Cleidocranial dysplasia: family cases. ( 26757508 )
2015
27
Expansion of polyalanine tracts in the QA domain may play a critical role in the clavicular development of cleidocranial dysplasia. ( 26440098 )
2015
28
Histological examination and clinical evaluation of the jawbone of an adult patient with cleidocranial dysplasia: a case report. ( 26339428 )
2015
29
Combined surgical-orthodontic rehabilitation of cleidocranial dysplasia: 5 years follow-up. ( 26301237 )
2015
30
Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases. ( 26279653 )
2015
31
Orthognathic surgery in patients with cleidocranial dysplasia. ( 25974789 )
2015
32
Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia. ( 25755819 )
2015
33
A rare case of cleidocranial dysplasia presenting with failure to thrive. ( 25810671 )
2015
34
Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient. ( 26220009 )
2015
35
Familial cleidocranial dysplasia misdiagnosed as rickets over three generations. ( 26286462 )
2015
36
Early dental treatments for patients with cleidocranial dysplasia. ( 25815383 )
2015
37
Restorative treatment strategies for patients with cleidocranial dysplasia. ( 25677164 )
2015
38
Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia. ( 26700323 )
2015
39
Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation. ( 26594640 )
2015
40
Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient. ( 26389062 )
2015
41
Cranioplasty Using a Modified Split Calvarial Graft Technique in Cleidocranial Dysplasia. ( 26279819 )
2015
42
Abnormal differentiation of dental pulp cells in cleidocranial dysplasia. ( 25589510 )
2015
43
Expression of RUNX2 and its signaling partners TCF7, FGFR1/2 in cleidocranial dysplasia. ( 25738174 )
2015
44
A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia. ( 25852448 )
2015
45
Cleidocranial dysplasia syndrome (CCD) with an unusual finding in a young patient. ( 26581700 )
2015
46
A review of clinical and radiological features of cleidocranial dysplasia with a report of two cases and a dental treatment protocol. ( 26538892 )
2015
47
Generation of cleidocranial dysplasia-specific human induced pluripotent stem cells in completely serum-, feeder-, and integration-free culture. ( 26559068 )
2015
48
Fabrication of lithium silicate ceramic veneers with a CAD/CAM approach: A clinical report of cleidocranial dysplasia. ( 25682532 )
2015
49
Cleidocranial dysplasia: a case report illustrating diagnostic clinical and radiological findings. ( 25121071 )
2014
50
Asymptomatic tonsillar herniation in a neonate with cleidocranial dysplasia. ( 24446448 )
2014

Variations for Cleidocranial Dysplasia

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

71 (show all 47)
# 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
46 RUNX2 p.Arg186Thr VAR_079577
47 RUNX2 p.Arg193Gly VAR_079578

ClinVar genetic disease variations for Cleidocranial Dysplasia:

6 (show all 15)
# 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
# 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:

# 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 38)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.96 MSX2 RUNX3 SHH TCF7
2 positive regulation of transcription, DNA-templated GO:0045893 9.92 RUNX2 RUNX3 SHH SOX9
3 regulation of transcription by RNA polymerase II GO:0006357 9.88 RUNX2 RUNX3 SOX9 TCF7
4 regulation of cell proliferation GO:0042127 9.81 SHH SOX9 TCF7
5 heart development GO:0007507 9.81 ACAN SHH SOX9
6 extracellular matrix organization GO:0030198 9.77 ACAN COL10A1 SOX9
7 transcription initiation from RNA polymerase II promoter GO:0006367 9.74 CBFB RUNX2 SOX9
8 positive regulation of osteoblast differentiation GO:0045669 9.68 MSX2 RUNX2
9 cell fate commitment GO:0045165 9.67 SHH SOX9
10 odontogenesis of dentin-containing tooth GO:0042475 9.67 RUNX2 SHH
11 central nervous system development GO:0007417 9.67 ACAN SHH SOX9
12 embryonic limb morphogenesis GO:0030326 9.66 MSX2 SHH
13 branching involved in ureteric bud morphogenesis GO:0001658 9.65 SHH SOX9
14 hair follicle development GO:0001942 9.65 SHH SOX9
15 cell maturation GO:0048469 9.65 CBFB RUNX2
16 osteoblast differentiation GO:0001649 9.65 CBFB MSX2 RUNX2
17 cellular response to BMP stimulus GO:0071773 9.64 RUNX2 SOX9
18 odontogenesis GO:0042476 9.63 MSX2 SHH
19 protein localization to nucleus GO:0034504 9.62 SHH SOX9
20 stem cell differentiation GO:0048863 9.61 MSX2 RUNX2
21 oligodendrocyte differentiation GO:0048709 9.61 SHH SOX9
22 embryonic hindlimb morphogenesis GO:0035116 9.59 MSX2 SHH
23 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 SHH SOX9
24 chondrocyte differentiation GO:0002062 9.58 RUNX2 RUNX3 SOX9
25 embryonic digestive tract morphogenesis GO:0048557 9.56 SHH TCF7
26 skeletal system development GO:0001501 9.56 ACAN COL10A1 RUNX2 SOX9
27 positive regulation of chondrocyte differentiation GO:0032332 9.55 RUNX2 SOX9
28 cell fate specification GO:0001708 9.54 SHH SOX9
29 regulation of cell differentiation GO:0045595 9.54 RUNX2 RUNX3 SOX9
30 prostate gland development GO:0030850 9.52 SHH SOX9
31 epithelial tube branching involved in lung morphogenesis GO:0060441 9.51 SHH SOX9
32 embryonic forelimb morphogenesis GO:0035115 9.5 MSX2 RUNX2 SHH
33 limb bud formation GO:0060174 9.46 SHH SOX9
34 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.43 SHH SOX9
35 ossification GO:0001503 9.35 CBFB MSX2 RUNX2 RUNX3 SOX9
36 osteoblast development GO:0002076 9.33 MSX2 RUNX2 SHH
37 chondrocyte development GO:0002063 8.92 ACAN MSX2 RUNX2 SOX9
38 regulation of transcription, DNA-templated GO:0006355 10.14 MSX2 RUNX2 RUNX3 SHH SOX9 TCF7

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

# 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 DNA binding transcription factor activity 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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