MCID: CLD001
MIFTS: 62

Cleidocranial Dysplasia malady

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

Aliases & Classifications for Cleidocranial Dysplasia

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

Aliases & Descriptions for Cleidocranial Dysplasia:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

64
cleidocranial dysplasia:
Inheritance: autosomal dominant inheritance

GeneReviews:

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


Classifications:



External Ids:

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

Summaries for Cleidocranial Dysplasia

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NIH Rare Diseases:48 Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems. Last updated: 4/7/2016

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

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

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

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

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

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

GeneReviews for NBK1513

Related Diseases for Cleidocranial Dysplasia

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Diseases in the Cleidocranial Dysplasia family:

Cleidocranial Dysplasia Recessive Form

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1parietal foramina with cleidocranial dysplasia12.4
2central core disease11.9
3cleidocranial dysplasia recessive form11.9
4yunis-varon syndrome11.8
5congenital chloride diarrhea10.9
6cerebral creatine deficiency syndrome 210.8
7night blindness, congenital stationary , 1b, autosomal recessive10.4MSX2, RUNX2
8critical congenital heart disease10.4CBFB, RUNX2
9ehlers-danlos syndrome, musculocontractural type 210.3COL10A1, RUNX2
10chondrocalcinosis 210.2COL10A1, MSX2
11craniosynostosis, type 110.2MSX2, RUNX2
12syphilitic myelopathy10.2RUNX2, SOX9
13orbital granuloma10.1CBFB, MSX2, RUNX2
14mild phosphoribosylpyrophosphate synthetase superactivity9.9COL10A1, SOX9
15bone resorption disease9.9ACAN, RUNX2
16neuropathy9.9CBFB, RUNX2, RUNX3
17ischemic bone disease9.9MSX2, RUNX2, SOX9
18cerebral hemorrhage9.9ACAN, COL10A1
19leukemia9.9
20myeloid leukemia9.9
21retroperitoneal germ cell neoplasm9.9ACAN, RUNX2
22small cell neuroendocrine carcinoma9.9COL10A1, SOX9
23root resorption9.9
24malignant hyperthermia9.9
25malignant hyperthermia susceptibility9.9
26spondylo-megaepiphyseal-metaphyseal dysplasia9.7
27holoprosencephaly9.7
28thalassemia9.7
29congenital hypothyroidism9.7
30rickets9.7
31ovarian disease9.7
32von willebrand's disease9.7
33ehlers-danlos syndrome9.7
34hypothyroidism9.7
35dysostosis9.7
36syringomyelia9.7
37myopathy9.7
38periodontitis9.7
39psoriasis9.7
40cleft lip9.7
41thalassemia minor9.7
42atlantoaxial subluxation9.7
43intellectual disability9.7
44bone structure disease9.7ACAN, SOX9
45dengue hemorrhagic fever9.6ACAN, SOX9
46leukemia, acute myeloid9.6CBFB, RUNX2, RUNX3
47chromosomal disease9.5ACAN, SOX9
48hypochondroplasia9.2ACAN, SOX9
49metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly8.2CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3

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



Diseases related to cleidocranial dysplasia

Symptoms & Phenotypes for Cleidocranial Dysplasia

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Symptoms by clinical synopsis from OMIM:

119600

Clinical features from OMIM:

119600

Human phenotypes related to Cleidocranial Dysplasia:

 64 54 (show all 95)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism64 54 hallmark (90%) Very frequent (99-80%) HP:0000316
2 micrognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000347
3 abnormality of the clavicle64 hallmark (90%) HP:0000889
4 frontal bossing64 54 hallmark (90%) Very frequent (99-80%) HP:0002007
5 recurrent respiratory infections64 54 hallmark (90%) Very frequent (99-80%) HP:0002205
6 wormian bones64 54 hallmark (90%) Very frequent (99-80%) HP:0002645
7 skeletal dysplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0002652
8 abnormality of the shoulder64 hallmark (90%) HP:0003043
9 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
10 increased number of teeth64 54 hallmark (90%) Very frequent (99-80%) HP:0011069
11 sinusitis64 54 typical (50%) Frequent (79-30%) HP:0000246
12 small face64 typical (50%) HP:0000274
13 sloping forehead64 54 typical (50%) Very frequent (99-80%) HP:0000340
14 hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000365
15 otitis media64 typical (50%) HP:0000388
16 delayed eruption of teeth64 54 typical (50%) Frequent (79-30%) HP:0000684
17 dental malocclusion64 typical (50%) HP:0000689
18 abnormality of the ribs64 54 typical (50%) Frequent (79-30%) HP:0000772
19 narrow chest64 54 typical (50%) Very frequent (99-80%) HP:0000774
20 brachydactyly syndrome64 54 typical (50%) Frequent (79-30%) HP:0001156
21 decreased skull ossification64 54 typical (50%) Frequent (79-30%) HP:0004331
22 reduced bone mineral density64 typical (50%) HP:0004349
23 abnormality of the sacrum64 54 typical (50%) Frequent (79-30%) HP:0005107
24 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
25 macrocephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000256
26 abnormality of the thumb64 54 occasional (7.5%) Occasional (29-5%) HP:0001172
27 tapered finger64 54 occasional (7.5%) Occasional (29-5%) HP:0001182
28 apnea64 occasional (7.5%) HP:0002104
29 abnormality of pelvic girdle bone morphology64 54 occasional (7.5%) Occasional (29-5%) HP:0002644
30 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
31 recurrent fractures64 54 occasional (7.5%) Occasional (29-5%) HP:0002757
32 genu valgum64 54 occasional (7.5%) Occasional (29-5%) HP:0002857
33 abnormality of epiphysis morphology64 54 occasional (7.5%) Occasional (29-5%) HP:0005930
34 narrow palate64 HP:0000189
35 high palate64 HP:0000218
36 parietal bossing64 HP:0000242
37 malar flattening64 HP:0000272
38 delayed eruption of primary teeth64 HP:0000680
39 delayed eruption of permanent teeth64 HP:0000696
40 short ribs64 HP:0000773
41 hypoplastic scapulae64 54 Occasional (29-5%) HP:0000882
42 cervical ribs64 HP:0000891
43 short clavicles64 54 Very frequent (99-80%) HP:0000894
44 neonatal respiratory distress64 HP:0002643
45 increased susceptibility to fractures64 HP:0002659
46 thickened calvaria64 HP:0002684
47 absent frontal sinuses64 HP:0002688
48 absent paranasal sinuses64 HP:0002689
49 large foramen magnum64 HP:0002700
50 hypoplastic frontal sinuses64 HP:0002738
51 kyphosis64 HP:0002808
52 coxa vara64 54 Occasional (29-5%) HP:0002812
53 hypoplastic iliac wing64 HP:0002866
54 wide pubic symphysis64 HP:0003183
55 spondylolisthesis64 HP:0003302
56 spondylolysis64 HP:0003304
57 syringomyelia64 HP:0003396
58 short middle phalanx of the 5th finger64 HP:0004220
59 persistent open anterior fontanelle64 HP:0004474
60 abnormal facility in opposing the shoulders64 HP:0005259
61 depressed nasal bridge64 54 Frequent (79-30%) HP:0005280
62 long second metacarpal64 HP:0006040
63 hypoplasia of dental enamel64 HP:0006297
64 aplastic clavicles64 HP:0006660
65 delayed pubic bone ossification64 HP:0008788
66 moderately short stature64 HP:0008848
67 short middle phalanx of the 2nd finger64 HP:0009577
68 cone-shaped epiphyses of the phalanges of the hand64 HP:0010230
69 increased bone mineral density64 HP:0011001
70 midface retrusion64 54 Frequent (79-30%) HP:0011800
71 short femoral neck64 HP:0100864
72 glossoptosis54 Occasional (29-5%)
73 abnormality of the teeth54 Very frequent (99-80%)
74 large fontanelles54 Very frequent (99-80%)
75 brachycephaly54 Occasional (29-5%)
76 mandibular prognathia54 Frequent (79-30%)
77 broad forehead54 Occasional (29-5%)
78 hearing abnormality54 Frequent (79-30%)
79 chronic otitis media54 Frequent (79-30%)
80 carious teeth54 Very frequent (99-80%)
81 abnormality of dental enamel54 Very frequent (99-80%)
82 osteoporosis54 Frequent (79-30%)
83 abnormality of the metacarpal bones54 Frequent (79-30%)
84 dystrophic toenail54 Occasional (29-5%)
85 high, narrow palate54 Very frequent (99-80%)
86 spina bifida occulta54 Frequent (79-30%)
87 clinodactyly of the 5th finger54 Occasional (29-5%)
88 dystrophic fingernails54 Occasional (29-5%)
89 hypoplastic inferior ilia54 Very frequent (99-80%)
90 sleep apnea54 Occasional (29-5%)
91 cheekbone underdevelopment54 Very frequent (99-80%)
92 chin dimple54 Frequent (79-30%)
93 open bite54 Frequent (79-30%)
94 short face54 Frequent (79-30%)
95 down-sloping shoulders54 Very frequent (99-80%)

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

41 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.8CBFB, RUNX2, RUNX3, SHH, SOX9
2MP:00053888.8CBFB, RUNX2, RUNX3, SHH, SOX9
3MP:00053818.6CBFB, MSX2, RUNX2, RUNX3, SHH, SOX9
4MP:00053858.5CBFB, FIG4, MSX2, RUNX2, SHH, SOX9
5MP:00053698.4FIG4, MSX2, RUNX2, RUNX3, SHH, SOX9
6MP:00053978.3CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
7MP:00053798.2CBFB, COL10A1, MSX2, RUNX2, RUNX3, SHH
8MP:00107718.1CBFB, FIG4, MSX2, RUNX2, RUNX3, SHH
9MP:00053918.1CBFB, MSX2, RUNX2, SHH, SOX9
10MP:00053827.7CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
11MP:00053787.7CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
12MP:00053877.7CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
13MP:00053717.7CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
14MP:00107687.7CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
15MP:00036317.6CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
16MP:00053907.5CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3

Drugs & Therapeutics for Cleidocranial Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cleidocranial Dysplasia


Cochrane evidence based reviews: cleidocranial dysplasia

Genetic Tests for Cleidocranial Dysplasia

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Genetic tests related to Cleidocranial Dysplasia:

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

Anatomical Context for Cleidocranial Dysplasia

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MalaCards organs/tissues related to Cleidocranial Dysplasia:

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

FMA organs/tissues related to Cleidocranial Dysplasia:

17
Clavicle, Skull

Publications for Cleidocranial Dysplasia

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Articles related to Cleidocranial Dysplasia:

(show top 50)    (show all 282)
idTitleAuthorsYear
1
Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case. (28091408)
2017
2
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review. (28056872)
2017
3
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation. (27272193)
2016
4
RUNX2 mutation impairs bone remodelling of dental follicle cells and periodontal ligament cells in patients with cleidocranial dysplasia. (27509906)
2016
5
Cleidocranial dysplasia: A report of two cases with brief review. (27195196)
2016
6
Cleidocranial Dysplasia With 6p21.1-p12.3 Microdeletion: A Case Report and Literature Review. (27500518)
2016
7
Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families. (28027977)
2016
8
Case of the Month. Cleidocranial Dysplasia. (27116813)
2016
9
Orthodontic treatment of a patient with cleidocranial dysplasia: A case report. (27446262)
2016
10
Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2. (27177937)
2016
11
Restorative treatment strategies for patients with cleidocranial dysplasia. (25677164)
2015
12
Cleidocranial dysplasia with bilateral posterior glenohumeral dislocation: a case-report. (25592053)
2015
13
Cone-beam computed tomography: An inevitable investigation in cleidocranial dysplasia. (26097368)
2015
14
Abnormal differentiation of dental pulp cells in cleidocranial dysplasia. (25589510)
2015
15
A rare case of cleidocranial dysplasia presenting with failure to thrive. (25810671)
2015
16
Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia. (26700323)
2015
17
Familial cleidocranial dysplasia misdiagnosed as rickets over three generations. (26286462)
2015
18
Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient. (26389062)
2015
19
Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient. (26220009)
2015
20
Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases. (26279653)
2015
21
Fabrication of lithium silicate ceramic veneers with a CAD/CAM approach: A clinical report of cleidocranial dysplasia. (25682532)
2015
22
A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia. (25852448)
2015
23
Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation. (26594640)
2015
24
Cleidocranial dysplasia: family cases. (26757508)
2015
25
A review of clinical and radiological features of cleidocranial dysplasia with a report of two cases and a dental treatment protocol. (26538892)
2015
26
Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia. (25755819)
2015
27
Histological examination and clinical evaluation of the jawbone of an adult patient with cleidocranial dysplasia: a case report. (26339428)
2015
28
Generation of cleidocranial dysplasia-specific human induced pluripotent stem cells in completely serum-, feeder-, and integration-free culture. (26559068)
2015
29
Cranioplasty Using a Modified Split Calvarial Graft Technique in Cleidocranial Dysplasia. (26279819)
2015
30
Combined surgical-orthodontic rehabilitation of cleidocranial dysplasia: 5 years follow-up. (26301237)
2015
31
Expression of RUNX2 and its signaling partners TCF7, FGFR1/2 in cleidocranial dysplasia. (25738174)
2015
32
Expansion of polyalanine tracts in the QA domain may play a critical role in the clavicular development of cleidocranial dysplasia. (26440098)
2015
33
Cleidocranial dysplasia syndrome (CCD) with an unusual finding in a young patient. (26581700)
2015
34
Early dental treatments for patients with cleidocranial dysplasia. (25815383)
2015
35
Orthognathic surgery in patients with cleidocranial dysplasia. (25974789)
2015
36
Cleidocranial dysplasia: a case report illustrating diagnostic clinical and radiological findings. (25121071)
2014
37
Progressive cognitive decline in an adult patient with cleidocranial dysplasia. (24797831)
2014
38
Cleidocranial dysplasia with autosomal dominant inheritance pattern. (25184084)
2014
39
Role of the RUNX2 p.R225Q mutation in cleidocranial dysplasia: a rare presentation and an analysis of the RUNX2 protein structure. (24634175)
2014
40
Ehlers-Danlos syndrome versus cleidocranial dysplasia. (24887404)
2014
41
A novel in-frame deletion of the RUNX2 gene causes a classic form of cleidocranial dysplasia. (23558979)
2014
42
CbfI^ deletion in mice recapitulates cleidocranial dysplasia and reveals multiple functions of CbfI^ required for skeletal development. (24850862)
2014
43
Cleidocranial dysplasia case report: remodeling of teeth as aesthetic restorative treatment. (25045546)
2014
44
Asymptomatic tonsillar herniation in a neonate with cleidocranial dysplasia. (24446448)
2014
45
Novel complex disease allele mutations in cleidocranial dysplasia patients. (24935264)
2014
46
A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia. (24966961)
2014
47
Identification of three novel frameshift mutations in the RUNX2 gene in three sporadic Chinese cases with cleidocranial dysplasia]. (25119901)
2014
48
Cleidocranial dysplasia: report of six clinical cases. (24712510)
2014
49
Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia. (25209980)
2014
50
Clinical and Radiological Evaluation of Cleidocranial Dysplasia in Two Trinidadian Siblings. (25781294)
2014

Variations for Cleidocranial Dysplasia

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

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

Clinvar genetic disease variations for Cleidocranial Dysplasia:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1RUNX2NM_001015051.3(RUNX2): c.476G> A (p.Gly159Asp)SNVPathogenicrs864621970GRCh37Chr 6, 45399652: 45399652
2RUNX2NM_001024630.3(RUNX2): c.1171C> T (p.Arg391Ter)SNVPathogenicrs397515537GRCh37Chr 6, 45514647: 45514647
3RUNX2NM_001024630.3(RUNX2): c.90dupC (p.Ser31Leufs)duplicationPathogenicrs397515538GRCh37Chr 6, 45390361: 45390361
4RUNX2NM_001024630.3(RUNX2)indelPathogenicrs730880313GRCh38Chr 6, 45422723: 45422737
5RUNX2NM_001024630.3(RUNX2): c.891G> A (p.Trp297Ter)SNVPathogenicrs104893988GRCh37Chr 6, 45480014: 45480014
6RUNX2NM_001024630.3(RUNX2): c.524T> G (p.Met175Arg)SNVPathogenicrs104893989GRCh37Chr 6, 45399700: 45399700
7RUNX2NM_001024630.3(RUNX2): c.572G> A (p.Ser191Asn)SNVPathogenicrs104893990GRCh37Chr 6, 45399748: 45399748
8RUNX2NM_001024630.3(RUNX2): c.674G> A (p.Arg225Gln)SNVPathogenicrs104893991GRCh37Chr 6, 45405777: 45405777
9RUNX2NM_001024630.3(RUNX2): c.673C> T (p.Arg225Trp)SNVPathogenicrs104893992GRCh37Chr 6, 45405776: 45405776
10RUNX2NM_001024630.3(RUNX2): c.598A> G (p.Thr200Ala)SNVPathogenicrs104893993GRCh37Chr 6, 45405701: 45405701
11RUNX2NM_001024630.3(RUNX2): c.1565G> C (p.Ter522Ser)SNVPathogenicrs104893994GRCh37Chr 6, 45515041: 45515041
12RUNX2NM_001024630.3(RUNX2): c.506G> C (p.Arg169Pro)SNVPathogenicrs104893995GRCh37Chr 6, 45399682: 45399682
13RUNX2NM_001024630.3(RUNX2): c.1228dupC (p.Leu410Profs)duplicationPathogenicrs730880315GRCh37Chr 6, 45514704: 45514704

Copy number variations for Cleidocranial Dysplasia from CNVD:

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

Expression for genes affiliated with Cleidocranial Dysplasia

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Search GEO for disease gene expression data for Cleidocranial Dysplasia.

Pathways for genes affiliated with Cleidocranial Dysplasia

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GO Terms for genes affiliated with Cleidocranial Dysplasia

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

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.5ACAN, COL10A1, SHH
2transcription factor complexGO:00056678.8RUNX2, SOX9, TCF7

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1cell maturationGO:004846910.6CBFB, RUNX2
2endochondral ossificationGO:000195810.5COL10A1, RUNX2
3stem cell differentiationGO:004886310.5MSX2, RUNX2
4embryonic digit morphogenesisGO:004273310.3MSX2, SHH
5embryonic hindlimb morphogenesisGO:003511610.3MSX2, SHH
6embryonic limb morphogenesisGO:003032610.3MSX2, SHH
7odontogenesis of dentin-containing toothGO:004247510.3RUNX2, SHH
8odontogenesisGO:004247610.3MSX2, SHH
9osteoblast differentiationGO:000164910.3CBFB, MSX2, RUNX2
10embryonic digestive tract morphogenesisGO:004855710.1SHH, TCF7
11positive regulation of chondrocyte differentiationGO:003233210.1RUNX2, SOX9
12negative regulation of epithelial cell proliferationGO:005068010.1RUNX3, SOX9
13embryonic forelimb morphogenesisGO:003511510.0MSX2, RUNX2, SHH
14osteoblast developmentGO:000207610.0MSX2, RUNX2, SHH
15branching involved in ureteric bud morphogenesisGO:00016589.8SHH, SOX9
16cell fate specificationGO:00017089.8SHH, SOX9
17epithelial tube branching involved in lung morphogenesisGO:00604419.8SHH, SOX9
18hair follicle developmentGO:00019429.8SHH, SOX9
19limb bud formationGO:00601749.8SHH, SOX9
20negative regulation of mesenchymal cell apoptotic processGO:20010549.8SHH, SOX9
21oligodendrocyte differentiationGO:00487099.8SHH, SOX9
22positive regulation of mesenchymal cell proliferationGO:00020539.8SHH, SOX9
23chondrocyte differentiationGO:00020629.8RUNX2, RUNX3, SOX9
24prostate gland developmentGO:00308509.8SHH, SOX9
25protein localization to nucleusGO:00345049.8SHH, SOX9
26cartilage developmentGO:00512169.7COL10A1, MSX2, SOX9
27regulation of cell differentiationGO:00455959.7RUNX2, RUNX3, SOX9
28extracellular matrix organizationGO:00301989.5ACAN, COL10A1, SOX9
29positive regulation of gene expressionGO:00106289.5RUNX2, SHH, SOX9
30central nervous system developmentGO:00074179.3ACAN, SHH, SOX9
31chondrocyte developmentGO:00020639.3ACAN, MSX2, RUNX2, SOX9
32heart developmentGO:00075079.3ACAN, SHH, SOX9
33regulation of cell proliferationGO:00421279.2SHH, SOX9, TCF7
34positive regulation of transcription, DNA-templatedGO:00458939.1RUNX2, RUNX3, SHH, SOX9
35skeletal system developmentGO:00015019.1ACAN, COL10A1, RUNX2, SOX9
36ossificationGO:00015039.1CBFB, MSX2, RUNX2, RUNX3, SOX9
37regulation of transcription from RNA polymerase II promoterGO:00063578.8CBFB, RUNX2, RUNX3, SOX9, TCF7
38negative regulation of transcription from RNA polymerase II promoterGO:00001228.6MSX2, RUNX3, SHH, SOX9, TCF7
39transcription from RNA polymerase II promoterGO:00063668.3CBFB, MSX2, RUNX2, RUNX3, SOX9

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

idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:004342510.2RUNX2, SOX9
2RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.7RUNX2, RUNX3, SOX9
3transcription factor activity, sequence-specific DNA bindingGO:00037008.7CBFB, RUNX2, RUNX3, SOX9, TCF7
4transcription regulatory region DNA bindingGO:00442128.5MSX2, RUNX2, SOX9, TCF7
5protein bindingGO:00055156.5ACAN, CBFB, COL10A1, FIG4, MSX2, RUNX2

Sources for Cleidocranial Dysplasia

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