CLCD
MCID: CLD001
MIFTS: 62

Cleidocranial Dysplasia (CLCD)

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 57 12 76 53 25 59 75 37 13 55 44 15 73
Cleidocranial Dysostosis 57 12 76 53 25 59 75 29 6
Clcd 57 53 75
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 57 6
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 57 6
Marie-Sainton Disease 12 53
Ccd 57 75
Cleidocranial Dysostosis; Clcd 57
Dysplasia, Cleidocranial 40
Dysplasia Cleidocranial 53
Dento-Osseous Dysplasia 25
Marie-Sainton Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

Miscellaneous:
one third of patients represent new mutations


HPO:

32
cleidocranial dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cleidocranial Dysplasia

NIH Rare Diseases : 53 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.

MalaCards based summary : Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to parietal foramina with cleidocranial dysplasia and parietal foramina. 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 TGF-beta Receptor Signaling (WikiPathways). Affiliated tissues include bone, eye and myeloid, and related phenotypes are macrocephaly and hypertelorism

OMIM : 57 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 : 75 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.

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 : 76 Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly... more...

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 68)
# Related Disease Score Top Affiliating Genes
1 parietal foramina with cleidocranial dysplasia 34.7 MSX2 RUNX2
2 parietal foramina 30.0 CBFB MSX2 RUNX2
3 hypophosphatasia 30.0 ALPL RUNX2
4 leukemia, acute myeloid 28.9 CBFB RUNX2 RUNX3
5 cleidocranial dysplasia spectrum disorder 12.2
6 central core disease of muscle 12.1
7 cleidocranial dysplasia, recessive form 12.0
8 yunis-varon syndrome 12.0
9 congenital chloride diarrhea 11.7
10 trichodentoosseous syndrome 11.3
11 oculodentodigital dysplasia 11.3
12 cerebral creatine deficiency syndrome 1 11.0
13 cerebral creatine deficiency syndrome 2 10.9
14 core binding factor acute myeloid leukemia 10.5 CBFB RUNX2
15 metaphyseal chondrodysplasia, schmid type 10.5 COL10A1 RUNX2
16 alveolar periostitis 10.4 BGLAP RUNX2
17 osseous heteroplasia, progressive 10.3 BGLAP RUNX2
18 spondyloepiphyseal dysplasia congenita 10.3 COL10A1 RUNX2
19 ossification of the posterior longitudinal ligament of spine 10.3 BGLAP RUNX2
20 holoprosencephaly 3 10.3 RUNX2 SHH
21 glucocorticoid-induced osteoporosis 10.3 BGLAP RUNX2
22 bone development disease 10.3 MSX2 RUNX2
23 ischemic bone disease 10.3 BGLAP RUNX2
24 ankylosis 10.2 BGLAP RUNX2
25 teeth, supernumerary 10.2
26 bone resorption disease 10.1 BGLAP RUNX2
27 bone remodeling disease 10.1 BGLAP RUNX2
28 schizencephaly 10.1 BGLAP SHH
29 persistent hyperplastic primary vitreous 10.0
30 saethre-chotzen syndrome 10.0 BGLAP MSX2 RUNX2
31 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
32 myeloid leukemia 10.0
33 diarrhea 1, secretory chloride, congenital 9.9
34 parametritis 9.9
35 diarrhea 9.9
36 root resorption 9.9
37 malignant hyperthermia 9.9
38 malignant hyperthermia susceptibility 9.9
39 pyle disease 9.8
40 aging 9.8
41 spondylo-megaepiphyseal-metaphyseal dysplasia 9.8
42 beta-thalassemia 9.8
43 holoprosencephaly 9.8
44 leukemia 9.8
45 thalassemia 9.8
46 congenital hypothyroidism 9.8
47 rickets 9.8
48 ovarian disease 9.8
49 von willebrand's disease 9.8
50 ehlers-danlos syndrome 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:

57
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 Ribs Sternum 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:

59 32 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
4 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
5 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 sleep apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0010535
8 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
9 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
10 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
11 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
12 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
13 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
14 hypoplastic inferior ilia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008821
15 open bite 59 32 frequent (33%) Frequent (79-30%) HP:0010807
16 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
17 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
18 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
19 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
20 glossoptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000162
21 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
22 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
23 abnormality of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001172
24 sinusitis 59 32 frequent (33%) Frequent (79-30%) HP:0000246
25 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
26 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
27 wormian bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0002645
28 high, narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002705
29 broad forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000337
30 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
31 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
32 increased number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0011069
33 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
34 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
35 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
36 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
37 spina bifida occulta 59 32 frequent (33%) Frequent (79-30%) HP:0003298
38 down-sloping shoulders 59 32 hallmark (90%) Very frequent (99-80%) HP:0200021
39 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
40 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
41 coxa vara 59 32 occasional (7.5%) Occasional (29-5%) HP:0002812
42 abnormality of the sacrum 59 32 frequent (33%) Frequent (79-30%) HP:0005107
43 tapered finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0001182
44 sloping forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000340
45 short face 59 32 frequent (33%) Frequent (79-30%) HP:0011219
46 dystrophic toenail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001810
47 hypoplastic scapulae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000882
48 short clavicles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000894
49 decreased skull ossification 59 32 frequent (33%) Frequent (79-30%) HP:0004331
50 dystrophic fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0008391

MGI Mouse Phenotypes related to Cleidocranial Dysplasia:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.13 SHH ALPL CBFB COL10A1 FIG4 MSX2
2 growth/size/body region MP:0005378 10.08 ALPL CBFB COL10A1 FIG4 MSX2 RUNX2
3 endocrine/exocrine gland MP:0005379 10.04 ALPL CBFB COL10A1 MSX2 RUNX2 RUNX3
4 immune system MP:0005387 10.03 ALPL CBFB COL10A1 FIG4 MSX2 RUNX2
5 cardiovascular system MP:0005385 10.01 ALPL CBFB FIG4 MSX2 RUNX2 SHH
6 hematopoietic system MP:0005397 10 ALPL CBFB COL10A1 FIG4 MSX2 RUNX2
7 digestive/alimentary MP:0005381 9.99 ALPL CBFB MSX2 RUNX2 RUNX3 SHH
8 limbs/digits/tail MP:0005371 9.97 ALPL CBFB COL10A1 FIG4 MSX2 RUNX2
9 mortality/aging MP:0010768 9.92 ALPL CBFB COL10A1 FIG4 MSX2 RUNX2
10 integument MP:0010771 9.88 RUNX3 SHH CBFB FIG4 MSX2 RUNX2
11 nervous system MP:0003631 9.76 MSX2 RUNX2 RUNX3 SHH ALPL CBFB
12 muscle MP:0005369 9.73 ALPL FIG4 MSX2 RUNX2 RUNX3 SHH
13 respiratory system MP:0005388 9.35 ALPL CBFB RUNX2 RUNX3 SHH
14 skeleton MP:0005390 9.23 ALPL CBFB COL10A1 FIG4 MSX2 RUNX2

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 29 RUNX2

Anatomical Context for Cleidocranial Dysplasia

MalaCards organs/tissues related to Cleidocranial Dysplasia:

41
Bone, Eye, Myeloid, Kidney, Uterus, B Cells

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

19
Skull, Clavicle

Publications for Cleidocranial Dysplasia

Articles related to Cleidocranial Dysplasia:

(show top 50) (show all 310)
# Title Authors Year
1
Multiple unerupted and supernumerary teeth in a patient with cleidocranial dysplasia. ( 29487646 )
2018
2
Cleidocranial Dysplasia-dental Disorder Treatment and Audiology Diagnosis. ( 29520374 )
2018
3
Characterization of dental phenotype in patients with cleidocranial dysplasia using longitudinal data. ( 29664332 )
2018
4
Surgical Management and Evaluation of the Craniofacial Growth and Morphology in Cleidocranial Dysplasia. ( 29498969 )
2018
5
Abnormal bone remodelling activity of dental follicle cells from a cleidocranial dysplasia patient. ( 29787635 )
2018
6
Gene-Expression Analysis Identifies IGFBP2 Dysregulation in Dental Pulp Cells From Human Cleidocranial Dysplasia. ( 29875795 )
2018
7
Metabolomics profiling of cleidocranial dysplasia. ( 29943367 )
2018
8
RUNX2 mutation reduces osteogenic differentiation of dental follicle cells in cleidocranial dysplasia. ( 29947791 )
2018
9
Cleidocranial Dysplasia: Presentation of Clinical and Radiological Features of a Rare Syndromic Entity. ( 29769514 )
2018
10
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
11
A novel Alu-mediated microdeletion in the RUNX2 gene in a Chinese patient with cleidocranial dysplasia. ( 29666333 )
2018
12
Anesthetic management during a cesarean section in a patient with cleidocranial dysplasia: a case report. ( 29457112 )
2018
13
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review. ( 28056872 )
2017
14
Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case. ( 28091408 )
2017
15
Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. ( 28505335 )
2017
16
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia. ( 28173761 )
2017
17
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. ( 28738062 )
2017
18
Oral rehabilitation with implant-supported fixed dental prostheses of a patient with cleidocranial dysplasia. ( 28578077 )
2017
19
A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. ( 28703881 )
2017
20
Cleidocranial Dysplasia: A Review of Clinical, Radiological, Genetic Implications and a Guidelines Proposal. ( 29189406 )
2017
21
Multidisciplinary team approach in the oral rehabilitation of patients with cleidocranial dysplasia to achieve a functional aesthetic outcome. ( 28964668 )
2017
22
A novel gene mutation of Runx2 in cleidocranial dysplasia. ( 29058294 )
2017
23
Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia. ( 28878609 )
2017
24
A novel 18-bp in-frame deletion mutation in RUNX2 causes cleidocranial dysplasia. ( 29089101 )
2017
25
Anaesthetic management of an obstetric patient with cleidocranial dysplasia. ( 28801164 )
2017
26
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation. ( 27272193 )
2016
27
Aesthetic Facial Correction of Cleidocranial Dysplasia. ( 28913260 )
2016
28
Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families. ( 28027977 )
2016
29
Cleidocranial Dysplasia With 6p21.1-p12.3 Microdeletion: A Case Report and Literature Review. ( 27500518 )
2016
30
Orthodontic treatment of a patient with cleidocranial dysplasia: A case report. ( 27446262 )
2016
31
Cleidocranial dysplasia: A report of two cases with brief review. ( 27195196 )
2016
32
Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2. ( 27177937 )
2016
33
Case of the Month. Cleidocranial Dysplasia. ( 27116813 )
2016
34
RUNX2 mutation impairs bone remodelling of dental follicle cells and periodontal ligament cells in patients with cleidocranial dysplasia. ( 27509906 )
2016
35
Cleidocranial dysplasia: family cases. ( 26757508 )
2015
36
Cleidocranial dysplasia with bilateral posterior glenohumeral dislocation: a case-report. ( 25592053 )
2015
37
Cranioplasty Using a Modified Split Calvarial Graft Technique in Cleidocranial Dysplasia. ( 26279819 )
2015
38
Orthognathic surgery in patients with cleidocranial dysplasia. ( 25974789 )
2015
39
Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia. ( 26700323 )
2015
40
Cleidocranial dysplasia syndrome (CCD) with an unusual finding in a young patient. ( 26581700 )
2015
41
A rare case of cleidocranial dysplasia presenting with failure to thrive. ( 25810671 )
2015
42
Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient. ( 26220009 )
2015
43
Expansion of polyalanine tracts in the QA domain may play a critical role in the clavicular development of cleidocranial dysplasia. ( 26440098 )
2015
44
Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia. ( 25755819 )
2015
45
Fabrication of lithium silicate ceramic veneers with a CAD/CAM approach: A clinical report of cleidocranial dysplasia. ( 25682532 )
2015
46
Expression of RUNX2 and its signaling partners TCF7, FGFR1/2 in cleidocranial dysplasia. ( 25738174 )
2015
47
Generation of cleidocranial dysplasia-specific human induced pluripotent stem cells in completely serum-, feeder-, and integration-free culture. ( 26559068 )
2015
48
Familial cleidocranial dysplasia misdiagnosed as rickets over three generations. ( 26286462 )
2015
49
Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation. ( 26594640 )
2015
50
Early dental treatments for patients with cleidocranial dysplasia. ( 25815383 )
2015

Variations for Cleidocranial Dysplasia

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

75 (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 top 50) (show all 159)
# 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) indel Pathogenic rs730880313 GRCh37 Chromosome 6, 45390460: 45390474
3 RUNX2 NM_001024630.3(RUNX2): c.891G> A (p.Trp297Ter) single nucleotide variant Pathogenic rs104893988 GRCh37 Chromosome 6, 45480014: 45480014
4 RUNX2 NM_001024630.3(RUNX2): c.891G> A (p.Trp297Ter) single nucleotide variant Pathogenic rs104893988 GRCh38 Chromosome 6, 45512277: 45512277
5 RUNX2 NM_001024630.3(RUNX2) duplication Pathogenic rs606231174 GRCh37 Chromosome 6, 45390494: 45390523
6 RUNX2 NM_001024630.3(RUNX2) duplication Pathogenic rs606231174 GRCh38 Chromosome 6, 45422757: 45422786
7 RUNX2 NM_001024630.3(RUNX2): c.524T> G (p.Met175Arg) single nucleotide variant Pathogenic rs104893989 GRCh37 Chromosome 6, 45399700: 45399700
8 RUNX2 NM_001024630.3(RUNX2): c.524T> G (p.Met175Arg) single nucleotide variant Pathogenic rs104893989 GRCh38 Chromosome 6, 45431963: 45431963
9 RUNX2 NM_001024630.3(RUNX2): c.572G> A (p.Ser191Asn) single nucleotide variant Pathogenic rs104893990 GRCh37 Chromosome 6, 45399748: 45399748
10 RUNX2 NM_001024630.3(RUNX2): c.572G> A (p.Ser191Asn) single nucleotide variant Pathogenic rs104893990 GRCh38 Chromosome 6, 45432011: 45432011
11 RUNX2 NM_001024630.3(RUNX2): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs104893991 GRCh37 Chromosome 6, 45405777: 45405777
12 RUNX2 NM_001024630.3(RUNX2): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs104893991 GRCh38 Chromosome 6, 45438040: 45438040
13 RUNX2 NM_001024630.3(RUNX2): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs104893992 GRCh37 Chromosome 6, 45405776: 45405776
14 RUNX2 NM_001024630.3(RUNX2): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs104893992 GRCh38 Chromosome 6, 45438039: 45438039
15 RUNX2 NM_001024630.3(RUNX2): c.598A> G (p.Thr200Ala) single nucleotide variant Pathogenic rs104893993 GRCh37 Chromosome 6, 45405701: 45405701
16 RUNX2 NM_001024630.3(RUNX2): c.598A> G (p.Thr200Ala) single nucleotide variant Pathogenic rs104893993 GRCh38 Chromosome 6, 45437964: 45437964
17 RUNX2 NM_001024630.3(RUNX2): c.1565G> C (p.Ter522Ser) single nucleotide variant Pathogenic rs104893994 GRCh37 Chromosome 6, 45515041: 45515041
18 RUNX2 NM_001024630.3(RUNX2): c.1565G> C (p.Ter522Ser) single nucleotide variant Pathogenic rs104893994 GRCh38 Chromosome 6, 45547304: 45547304
19 RUNX2 NM_001024630.3(RUNX2): c.506G> C (p.Arg169Pro) single nucleotide variant Pathogenic rs104893995 GRCh37 Chromosome 6, 45399682: 45399682
20 RUNX2 NM_001024630.3(RUNX2): c.506G> C (p.Arg169Pro) single nucleotide variant Pathogenic rs104893995 GRCh38 Chromosome 6, 45431945: 45431945
21 RUNX2 NM_001024630.3(RUNX2): c.1228dupC (p.Leu410Profs) duplication Pathogenic rs730880315 GRCh37 Chromosome 6, 45514704: 45514704
22 RUNX2 NM_001024630.3(RUNX2): c.1228dupC (p.Leu410Profs) duplication Pathogenic rs730880315 GRCh38 Chromosome 6, 45546967: 45546967
23 RUNX2 NM_001024630.3(RUNX2): c.1171C> T (p.Arg391Ter) single nucleotide variant Pathogenic rs397515537 GRCh37 Chromosome 6, 45514647: 45514647
24 RUNX2 NM_001024630.3(RUNX2): c.1171C> T (p.Arg391Ter) single nucleotide variant Pathogenic rs397515537 GRCh38 Chromosome 6, 45546910: 45546910
25 RUNX2 NM_001024630.3(RUNX2): c.90dupC (p.Ser31Leufs) duplication Pathogenic rs397515538 GRCh37 Chromosome 6, 45390361: 45390361
26 RUNX2 NM_001024630.3(RUNX2): c.90dupC (p.Ser31Leufs) duplication Pathogenic rs397515538 GRCh38 Chromosome 6, 45422624: 45422624
27 RUNX2 NM_001024630.3(RUNX2): c.240G> A (p.Ala80=) single nucleotide variant Benign rs6921145 GRCh37 Chromosome 6, 45390511: 45390511
28 RUNX2 NM_001024630.3(RUNX2): c.240G> A (p.Ala80=) single nucleotide variant Benign rs6921145 GRCh38 Chromosome 6, 45422774: 45422774
29 RUNX2 NM_001015051.3(RUNX2): c.476G> A (p.Gly159Asp) single nucleotide variant Pathogenic rs864621970 GRCh37 Chromosome 6, 45399652: 45399652
30 RUNX2 NM_001015051.3(RUNX2): c.476G> A (p.Gly159Asp) single nucleotide variant Pathogenic rs864621970 GRCh38 Chromosome 6, 45431915: 45431915
31 RUNX2 NM_001024630.3(RUNX2): c.234G> A (p.Ala78=) single nucleotide variant Uncertain significance rs886061493 GRCh37 Chromosome 6, 45390505: 45390505
32 RUNX2 NM_001024630.3(RUNX2): c.234G> A (p.Ala78=) single nucleotide variant Uncertain significance rs886061493 GRCh38 Chromosome 6, 45422768: 45422768
33 RUNX2 NM_001024630.3(RUNX2): c.581-9T> C single nucleotide variant Uncertain significance rs374414428 GRCh37 Chromosome 6, 45405675: 45405675
34 RUNX2 NM_001024630.3(RUNX2): c.581-9T> C single nucleotide variant Uncertain significance rs374414428 GRCh38 Chromosome 6, 45437938: 45437938
35 RUNX2 NM_001024630.3(RUNX2): c.859+10A> T single nucleotide variant Likely benign rs200115506 GRCh37 Chromosome 6, 45459861: 45459861
36 RUNX2 NM_001024630.3(RUNX2): c.859+10A> T single nucleotide variant Likely benign rs200115506 GRCh38 Chromosome 6, 45492124: 45492124
37 RUNX2 NM_001024630.3(RUNX2): c.1531G> A (p.Gly511Ser) single nucleotide variant Benign/Likely benign rs11498198 GRCh37 Chromosome 6, 45515007: 45515007
38 RUNX2 NM_001024630.3(RUNX2): c.1531G> A (p.Gly511Ser) single nucleotide variant Benign/Likely benign rs11498198 GRCh38 Chromosome 6, 45547270: 45547270
39 RUNX2 NM_001024630.3(RUNX2): c.*47C> T single nucleotide variant Likely benign rs144321470 GRCh37 Chromosome 6, 45515089: 45515089
40 RUNX2 NM_001024630.3(RUNX2): c.*47C> T single nucleotide variant Likely benign rs144321470 GRCh38 Chromosome 6, 45547352: 45547352
41 RUNX2 NM_001024630.3(RUNX2): c.*608delT deletion Benign rs398001403 GRCh38 Chromosome 6, 45547913: 45547913
42 RUNX2 NM_001024630.3(RUNX2): c.*608delT deletion Benign rs398001403 GRCh37 Chromosome 6, 45515650: 45515650
43 RUNX2 NM_001024630.3(RUNX2): c.*701C> G single nucleotide variant Uncertain significance rs886061496 GRCh38 Chromosome 6, 45548006: 45548006
44 RUNX2 NM_001024630.3(RUNX2): c.*701C> G single nucleotide variant Uncertain significance rs886061496 GRCh37 Chromosome 6, 45515743: 45515743
45 RUNX2 NM_001024630.3(RUNX2): c.*794T> C single nucleotide variant Uncertain significance rs886061497 GRCh38 Chromosome 6, 45548099: 45548099
46 RUNX2 NM_001024630.3(RUNX2): c.*794T> C single nucleotide variant Uncertain significance rs886061497 GRCh37 Chromosome 6, 45515836: 45515836
47 RUNX2 NM_001024630.3(RUNX2): c.*1437dupA duplication Likely benign rs886061500 GRCh37 Chromosome 6, 45516479: 45516479
48 RUNX2 NM_001024630.3(RUNX2): c.*1437dupA duplication Likely benign rs886061500 GRCh38 Chromosome 6, 45548742: 45548742
49 RUNX2 NM_001024630.3(RUNX2): c.*1448C> T single nucleotide variant Benign rs77856760 GRCh37 Chromosome 6, 45516490: 45516490
50 RUNX2 NM_001024630.3(RUNX2): c.*1448C> T single nucleotide variant Benign rs77856760 GRCh38 Chromosome 6, 45548753: 45548753

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 endoplasmic reticulum lumen GO:0005788 8.8 BGLAP COL10A1 SHH

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.87 MSX2 RUNX3 SHH TCF7
2 skeletal system development GO:0001501 9.62 ALPL BGLAP COL10A1 RUNX2
3 embryonic digit morphogenesis GO:0042733 9.61 MSX2 SHH
4 positive regulation of osteoblast differentiation GO:0045669 9.6 MSX2 RUNX2
5 odontogenesis of dentin-containing tooth GO:0042475 9.59 RUNX2 SHH
6 embryonic limb morphogenesis GO:0030326 9.58 MSX2 SHH
7 cellular response to growth factor stimulus GO:0071363 9.58 BGLAP MSX2
8 regulation of cell differentiation GO:0045595 9.56 RUNX2 RUNX3
9 chondrocyte differentiation GO:0002062 9.55 RUNX2 RUNX3
10 osteoblast differentiation GO:0001649 9.55 ALPL BGLAP CBFB MSX2 RUNX2
11 cell maturation GO:0048469 9.54 CBFB RUNX2
12 odontogenesis GO:0042476 9.54 BGLAP MSX2 SHH
13 biomineral tissue development GO:0031214 9.52 ALPL BGLAP
14 stem cell differentiation GO:0048863 9.51 MSX2 RUNX2
15 embryonic hindlimb morphogenesis GO:0035116 9.49 MSX2 SHH
16 endochondral ossification GO:0001958 9.48 ALPL RUNX2
17 response to vitamin D GO:0033280 9.46 ALPL BGLAP
18 embryonic digestive tract morphogenesis GO:0048557 9.43 SHH TCF7
19 embryonic forelimb morphogenesis GO:0035115 9.43 MSX2 RUNX2 SHH
20 chondrocyte development GO:0002063 9.4 MSX2 RUNX2
21 ossification GO:0001503 9.35 BGLAP CBFB MSX2 RUNX2 RUNX3
22 osteoblast development GO:0002076 8.92 BGLAP MSX2 RUNX2 SHH

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.35 CBFB MSX2 RUNX2 RUNX3 TCF7
2 transcription regulatory region DNA binding GO:0044212 8.8 MSX2 RUNX2 TCF7

Sources for Cleidocranial Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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