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, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cleidocranial Dysplasia:

Name: Cleidocranial Dysplasia 51 11 23 47 24 25 53 69 12 49 38 13 67
Cleidocranial Dysostosis 11 23 47 24 25 53 69 26
Marie-Sainton Disease 11 47
Clcd 47 69
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 51
 
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 51
Dysplasia Cleidocranial 47
Marie-Sainton Syndrome 25
Ccd 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
cleidocranial dysplasia:
Inheritance: autosomal dominant inheritance

GeneReviews:

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


Classifications:



External Ids:

OMIM51 119600
Disease Ontology11 DOID:13994
ICD1029 Q74.0
MeSH38 D002973
NCIt44 C75020
SNOMED-CT61 240193006, 65976001
Orphanet53 ORPHA1452
MESH via Orphanet39 D002973
UMLS via Orphanet68 C0008928
ICD10 via Orphanet30 Q74.0

Summaries for Cleidocranial Dysplasia

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NIH Rare Diseases:47 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:69 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:51 The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia... (119600) more...

Wikipedia:70 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 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:

 63 53 (show all 95)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
2 micrognathia63 53 hallmark (90%) Very frequent (99-80%) HP:0000347
3 abnormality of the clavicle63 hallmark (90%) HP:0000889
4 frontal bossing63 53 hallmark (90%) Very frequent (99-80%) HP:0002007
5 recurrent respiratory infections63 53 hallmark (90%) Very frequent (99-80%) HP:0002205
6 wormian bones63 53 hallmark (90%) Very frequent (99-80%) HP:0002645
7 skeletal dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0002652
8 abnormality of the shoulder63 hallmark (90%) HP:0003043
9 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
10 increased number of teeth63 53 hallmark (90%) Very frequent (99-80%) HP:0011069
11 sinusitis63 53 typical (50%) Frequent (79-30%) HP:0000246
12 small face63 typical (50%) HP:0000274
13 sloping forehead63 53 typical (50%) Very frequent (99-80%) HP:0000340
14 hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000365
15 otitis media63 typical (50%) HP:0000388
16 delayed eruption of teeth63 53 typical (50%) Frequent (79-30%) HP:0000684
17 dental malocclusion63 typical (50%) HP:0000689
18 abnormality of the ribs63 53 typical (50%) Frequent (79-30%) HP:0000772
19 narrow chest63 53 typical (50%) Very frequent (99-80%) HP:0000774
20 brachydactyly syndrome63 53 typical (50%) Frequent (79-30%) HP:0001156
21 decreased skull ossification63 53 typical (50%) Frequent (79-30%) HP:0004331
22 reduced bone mineral density63 typical (50%) HP:0004349
23 abnormality of the sacrum63 53 typical (50%) Frequent (79-30%) HP:0005107
24 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
25 macrocephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000256
26 abnormality of the thumb63 53 occasional (7.5%) Occasional (29-5%) HP:0001172
27 tapered finger63 53 occasional (7.5%) Occasional (29-5%) HP:0001182
28 apnea63 occasional (7.5%) HP:0002104
29 abnormality of pelvic girdle bone morphology63 53 occasional (7.5%) Occasional (29-5%) HP:0002644
30 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
31 recurrent fractures63 53 occasional (7.5%) Occasional (29-5%) HP:0002757
32 genu valgum63 53 occasional (7.5%) Occasional (29-5%) HP:0002857
33 abnormality of epiphysis morphology63 53 occasional (7.5%) Occasional (29-5%) HP:0005930
34 narrow palate63 HP:0000189
35 high palate63 HP:0000218
36 parietal bossing63 HP:0000242
37 malar flattening63 HP:0000272
38 delayed eruption of primary teeth63 HP:0000680
39 delayed eruption of permanent teeth63 HP:0000696
40 short ribs63 HP:0000773
41 hypoplastic scapulae63 53 Occasional (29-5%) HP:0000882
42 cervical ribs63 HP:0000891
43 short clavicles63 53 Very frequent (99-80%) HP:0000894
44 neonatal respiratory distress63 HP:0002643
45 increased susceptibility to fractures63 HP:0002659
46 thickened calvaria63 HP:0002684
47 absent frontal sinuses63 HP:0002688
48 absent paranasal sinuses63 HP:0002689
49 large foramen magnum63 HP:0002700
50 hypoplastic frontal sinuses63 HP:0002738
51 kyphosis63 HP:0002808
52 coxa vara63 53 Occasional (29-5%) HP:0002812
53 hypoplastic iliac wing63 HP:0002866
54 wide pubic symphysis63 HP:0003183
55 spondylolisthesis63 HP:0003302
56 spondylolysis63 HP:0003304
57 syringomyelia63 HP:0003396
58 short middle phalanx of the 5th finger63 HP:0004220
59 persistent open anterior fontanelle63 HP:0004474
60 abnormal facility in opposing the shoulders63 HP:0005259
61 depressed nasal bridge63 53 Frequent (79-30%) HP:0005280
62 long second metacarpal63 HP:0006040
63 hypoplasia of dental enamel63 HP:0006297
64 aplastic clavicles63 HP:0006660
65 delayed pubic bone ossification63 HP:0008788
66 moderately short stature63 HP:0008848
67 short middle phalanx of the 2nd finger63 HP:0009577
68 cone-shaped epiphyses of the phalanges of the hand63 HP:0010230
69 increased bone mineral density63 HP:0011001
70 midface retrusion63 53 Frequent (79-30%) HP:0011800
71 short femoral neck63 HP:0100864
72 glossoptosis53 Occasional (29-5%)
73 abnormality of the teeth53 Very frequent (99-80%)
74 large fontanelles53 Very frequent (99-80%)
75 brachycephaly53 Occasional (29-5%)
76 mandibular prognathia53 Frequent (79-30%)
77 broad forehead53 Occasional (29-5%)
78 hearing abnormality53 Frequent (79-30%)
79 chronic otitis media53 Frequent (79-30%)
80 carious teeth53 Very frequent (99-80%)
81 abnormality of dental enamel53 Very frequent (99-80%)
82 osteoporosis53 Frequent (79-30%)
83 abnormality of the metacarpal bones53 Frequent (79-30%)
84 dystrophic toenail53 Occasional (29-5%)
85 high, narrow palate53 Very frequent (99-80%)
86 spina bifida occulta53 Frequent (79-30%)
87 clinodactyly of the 5th finger53 Occasional (29-5%)
88 dystrophic fingernails53 Occasional (29-5%)
89 hypoplastic inferior ilia53 Very frequent (99-80%)
90 sleep apnea53 Occasional (29-5%)
91 cheekbone underdevelopment53 Very frequent (99-80%)
92 chin dimple53 Frequent (79-30%)
93 open bite53 Frequent (79-30%)
94 short face53 Frequent (79-30%)
95 down-sloping shoulders53 Very frequent (99-80%)

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 Dysostosis26
2 Cleidocranial Dysplasia24 RUNX2

Anatomical Context for Cleidocranial Dysplasia

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MalaCards organs/tissues related to Cleidocranial Dysplasia:

35
Bone, Eye, Myeloid, Kidney, Uterus, B cells

FMA organs/tissues related to Cleidocranial Dysplasia:

17
Clavicle, Skull

Animal Models for Cleidocranial Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Cleidocranial Dysplasia:

40 (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

Publications for Cleidocranial Dysplasia

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Articles related to Cleidocranial Dysplasia:

(show top 50)    (show all 282)
idTitleAuthorsYear
1
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation. (27272193)
2016
2
Restorative treatment strategies for patients with cleidocranial dysplasia. (25677164)
2015
3
Cleidocranial dysplasia with bilateral posterior glenohumeral dislocation: a case-report. (25592053)
2015
4
Cone-beam computed tomography: An inevitable investigation in cleidocranial dysplasia. (26097368)
2015
5
Abnormal differentiation of dental pulp cells in cleidocranial dysplasia. (25589510)
2015
6
A rare case of cleidocranial dysplasia presenting with failure to thrive. (25810671)
2015
7
Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia. (26700323)
2015
8
Familial cleidocranial dysplasia misdiagnosed as rickets over three generations. (26286462)
2015
9
Cleidocranial dysplasia: a case report illustrating diagnostic clinical and radiological findings. (25121071)
2014
10
Progressive cognitive decline in an adult patient with cleidocranial dysplasia. (24797831)
2014
11
Cleidocranial dysplasia with autosomal dominant inheritance pattern. (25184084)
2014
12
Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience. (23102800)
2013
13
RUNX2 gene status in a cleidocranial dysplasia patient without supernumerary teeth. (23188595)
2013
14
Prosthetic Rehabilitation of a Cleidocranial Dysplasia Patient with Vertical Maxillofacial Deficiency: A Clinical Report. (23725034)
2013
15
A 13-year-old Caucasian boy with cleidocranial dysplasia: a case report. (23289840)
2013
16
Cleidocranial dysplasia: oral features and genetic analysis of 11 patients. (22023169)
2012
17
Hypodontia and delayed dentition as the primary manifestation of cleidocranial dysplasia presenting with a diagnostic dilemma. (23320199)
2012
18
A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia. (21115325)
2011
19
Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia. (21131390)
2011
20
RUNX2 mutations in cleidocranial dysplasia patients. (19744171)
2010
21
Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia. (20702542)
2010
22
Correction of depressed forehead with BoneSource in cleidocranial dysplasia. (19305258)
2009
23
Multiple unerupted teeth. Cleidocranial dysplasia. (19284203)
2008
24
Cleidocranial dysplasia: a case report. (18408272)
2008
25
A novel RUNX2 mutation in cleidocranial dysplasia patients. (18777095)
2008
26
Craniofacial and temporal bone CT findings in cleidocranial dysplasia. (18446333)
2008
27
The presence of germ line mosaicism in cleidocranial dysplasia. (17539909)
2007
28
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations. (16463420)
2006
29
Three-dimensional ultrasound in the prenatal diagnosis of cleidocranial dysplasia associated with B-cell immunodeficiency. (16619383)
2006
30
Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia. (16244783)
2005
31
Early craniofacial signs of cleidocranial dysplasia. (14706028)
2004
32
Treatment of a patient with cleidocranial dysplasia using osseointegrated implants: a patient report. (15101601)
2004
33
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. (14571277)
2003
34
Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations. (12732182)
2003
35
Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings. (12972925)
2003
36
Oral pathology quiz #3. Cleidocranial dysplasia. (11889933)
2002
37
Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. (12196916)
2002
38
Radiological findings and molecular genetic confirmation of cleidocranial dysplasia. (12069472)
2002
39
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. (12424590)
2002
40
Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip. (11459326)
2001
41
Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia. (11768584)
2001
42
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. (10980549)
2000
43
Cleidocranial dysplasia: modern concepts of treatment and a report of an orthodontic resistant case requiring a restorative solution. (10765791)
1999
44
Cleidocranial dysplasia: clinical and molecular genetics. (10204840)
1999
45
Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review. (10463294)
1998
46
Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism? (9098480)
1997
47
Cleidocranial dysplasia associated with a t(6;18)(p12;q24) translocation. (7747775)
1995
48
Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh). (8270769)
1993
49
Cleidocranial Dysplasia (20301686)
1993
50
Cleidocranial dysplasia?an enigma among anomalies. (18796963)
1988

Variations for Cleidocranial Dysplasia

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

69 (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:00055788.9ACAN, COL10A1, SHH
2transcription factor complexGO:00056678.5RUNX2, SOX9, TCF7

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1stem cell differentiationGO:004886310.5MSX2, RUNX2
2cell maturationGO:004846910.4CBFB, RUNX2
3endochondral ossificationGO:000195810.2COL10A1, RUNX2
4odontogenesisGO:004247610.1MSX2, SHH
5embryonic hindlimb morphogenesisGO:003511610.1MSX2, SHH
6embryonic digit morphogenesisGO:004273310.1MSX2, SHH
7embryonic digestive tract morphogenesisGO:004855710.1SHH, TCF7
8odontogenesis of dentin-containing toothGO:004247510.0RUNX2, SHH
9positive regulation of chondrocyte differentiationGO:003233210.0RUNX2, SOX9
10embryonic limb morphogenesisGO:003032610.0MSX2, SHH
11osteoblast developmentGO:00020769.8MSX2, RUNX2, SHH
12osteoblast differentiationGO:00016499.8CBFB, MSX2, RUNX2
13embryonic forelimb morphogenesisGO:00351159.8MSX2, RUNX2, SHH
14negative regulation of mesenchymal cell apoptotic processGO:20010549.8SHH, SOX9
15negative regulation of epithelial cell proliferationGO:00506809.7RUNX3, SOX9
16prostate gland developmentGO:00308509.7SHH, SOX9
17limb bud formationGO:00601749.6SHH, SOX9
18positive regulation of mesenchymal cell proliferationGO:00020539.6SHH, SOX9
19oligodendrocyte differentiationGO:00487099.6SHH, SOX9
20cell fate specificationGO:00017089.6SHH, SOX9
21chondrocyte differentiationGO:00020629.5RUNX2, RUNX3, SOX9
22regulation of cell differentiationGO:00455959.5RUNX2, RUNX3, SOX9
23branching involved in ureteric bud morphogenesisGO:00016589.5SHH, SOX9
24hair follicle developmentGO:00019429.4SHH, SOX9
25cartilage developmentGO:00512169.4COL10A1, MSX2, SOX9
26epithelial tube branching involved in lung morphogenesisGO:00604419.4SHH, SOX9
27protein localization to nucleusGO:00345049.2SHH, SOX9
28chondrocyte developmentGO:00020639.1ACAN, MSX2, RUNX2, SOX9
29extracellular matrix organizationGO:00301988.9ACAN, COL10A1, SOX9
30skeletal system developmentGO:00015018.8ACAN, COL10A1, RUNX2, SOX9
31regulation of cell proliferationGO:00421278.8SHH, SOX9, TCF7
32ossificationGO:00015038.7CBFB, MSX2, RUNX2, RUNX3, SOX9
33positive regulation of transcription, DNA-templatedGO:00458938.7RUNX2, RUNX3, SHH, SOX9
34transcription from RNA polymerase II promoterGO:00063668.7CBFB, MSX2, RUNX2, RUNX3, SOX9
35heart developmentGO:00075078.7ACAN, SHH, SOX9
36positive regulation of gene expressionGO:00106288.6RUNX2, SHH, SOX9
37regulation of transcription from RNA polymerase II promoterGO:00063578.4CBFB, RUNX2, RUNX3, SOX9, TCF7
38central nervous system developmentGO:00074178.2ACAN, SHH, SOX9
39negative regulation of transcription from RNA polymerase II promoterGO:00001227.8MSX2, RUNX3, SHH, SOX9, TCF7

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

idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:004342510.1RUNX2, SOX9
2RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.5RUNX2, RUNX3, SOX9
3transcription regulatory region DNA bindingGO:00442129.0MSX2, RUNX2, SOX9, TCF7
4transcription factor activity, sequence-specific DNA bindingGO:00037008.5CBFB, RUNX2, RUNX3, SOX9, TCF7
5protein bindingGO:00055155.8ACAN, CBFB, COL10A1, FIG4, MSX2, RUNX2

Sources for Cleidocranial Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet