MCID: CLD001
MIFTS: 65

Cleidocranial Dysplasia malady

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

Aliases & Classifications for Cleidocranial Dysplasia

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cleidocranial Dysplasia:

Name: Cleidocranial Dysplasia 49 10 11 21 45 22 23 47 12 51 67 36 65
Cleidocranial Dysostosis 10 21 45 22 23 51 67 24
Marie-Sainton Disease 10 45
Clcd 45 67
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 49
 
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 49
Dysplasia Cleidocranial 45
Marie-Sainton Syndrome 23
Ccd 67

Characteristics:

Orphanet epidemiological data:

51
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:

61
cleidocranial dysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 119600
Disease Ontology10 DOID:13994
ICD1027 Q74.0
MeSH36 D002973
NCIt42 C75020
SNOMED-CT59 240193006, 65976001
Orphanet51 1452
ICD10 via Orphanet28 Q74.0
MESH via Orphanet37 D002973
UMLS via Orphanet66 C0008928
UMLS65 C0008928

Summaries for Cleidocranial Dysplasia

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NIH Rare Diseases:45 Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). individuals with cleidocranial dysplasia may also have decreased bone density (osteopenia), osteoporosis, dental abnormalities, hearing loss, and recurrent sinus and ear infections. mutations in the runx2 gene cause most cases of cleidocranial dysplasia. this condition is inherited in an autosomal dominant pattern. in some cases, a person inherits cleidocranial dysplasia from a parent who also has the condition. other cases result from new mutations (de novo mutations) in the runx2 gene.  dental problems are addressed with several procedures. ear and sinus infections may be treated with antibiotics and use of ear tubes. in some cases surgery is needed for the cranial defect.  last updated: 4/7/2016

MalaCards based summary: Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to parietal foramina with cleidocranial dysplasia and cleidocranial dysplasia recessive form, 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 Dendritic Cells Developmental Lineage Pathway and TGF Beta Signaling Pathway. Affiliated tissues include clavicle, skull and bone, and related mouse phenotypes are vision/eye and digestive/alimentary.

Disease Ontology:10 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.

Genetics Home Reference:23 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:49 The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia... (119600) more...

UniProtKB/Swiss-Prot:67 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.

Wikipedia:68 Cleidocranial dysostosis, also called cleidocranial dysplasia or mutational dysostosis, is a hereditary... more...

GeneReviews summary 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 top 50)    (show all 204)
idRelated DiseaseScoreTop Affiliating Genes
1parietal foramina with cleidocranial dysplasia12.7
2cleidocranial dysplasia recessive form12.4
3yunis-varon syndrome12.0
4central core disease11.9
5congenital chloride diarrhea10.4
6endotheliitis10.4
7peripheral vascular disease10.4
8vascular disease10.4
9melanoma10.3
10retinitis10.3
11cerebral creatine deficiency syndrome 210.3
12cerebral creatine deficiency syndrome 110.3
13colorectal cancer10.3
14breast cancer10.3
15cerebritis10.3
16corticosterone methyloxidase deficiency10.2CBFB, RUNX2
17drug addiction10.2
18thrombocytopenia10.2
19heparin-induced thrombocytopenia10.2
20neuroblastoma10.2
21lung cancer10.2
22gastric cancer10.2
23hepatitis10.2
24liver disease10.2
25atrial fibrillation10.2
26sarcoma10.2
27botulism10.2
28prostatitis10.2
29protein s deficiency10.2
30inclusion body myositis10.2
31lynch syndrome10.2
32myopathy10.2
33myositis10.2
34periodontitis10.2
35influenza10.2
36encephalitis10.2
37hypoglycemia10.2
38aneurysm10.2
39ehlers-danlos syndrome, musculocontractural type 210.2COL10A1, RUNX2
40mckusick type metaphyseal dysplasia10.1COL10A1, RUNX2
41chondrocalcinosis 210.1COL10A1, MSX2
42bone deterioration disease10.1MSX2, RUNX2
43darier disease10.1COL10A1, RUNX2
44schizophrenia10.0
45gastrointestinal stromal tumor10.0
46myocardial infarction10.0
47mandibuloacral dysplasia10.0
48factor v deficiency10.0
49prostate cancer10.0
50asthma10.0

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

Symptoms:

 51 (show all 40)
  • large fontanelle/delayed fontanelle closure
  • frontal bossing/prominent forehead
  • wormian bones
  • hypertelorism
  • hypoplastic mandibula/partial absence of the mandibula
  • high vaulted/narrow palate
  • anomalies of teeth and dentition
  • supernumerary teeth/polyodontia
  • clavicle absent/abnormal
  • narrow/sloping shoulders
  • repeat respiratory infections
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • poorly ossified skull/calvarium
  • sloping forehead
  • small face
  • dental malocclusion
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • anomalies of ear and hearing
  • hearing loss/hypoacusia/deafness
  • chronic/relapsing otitis
  • narrow rib cage/thorax
  • anomalies of the ribs
  • sacro-coccyx/sacrum anomaly
  • short hand/brachydactyly
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • brachycephaly/flat occiput
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • scoliosis
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • tapered fingers
  • thumb anomalies (excluding hypoplasia)
  • genu valgum
  • apnea/sleep apnea
  • motor deficit/trouble
  • mutiple fractures/bone fragility
  • epiphyseal anomaly

HPO human phenotypes related to Cleidocranial Dysplasia:

(show all 81)
id Description Frequency HPO Source Accession
1 hypertelorism hallmark (90%) HP:0000316
2 micrognathia hallmark (90%) HP:0000347
3 abnormality of the clavicle hallmark (90%) HP:0000889
4 frontal bossing hallmark (90%) HP:0002007
5 recurrent respiratory infections hallmark (90%) HP:0002205
6 wormian bones hallmark (90%) HP:0002645
7 skeletal dysplasia hallmark (90%) HP:0002652
8 abnormality of the shoulder hallmark (90%) HP:0003043
9 short stature hallmark (90%) HP:0004322
10 increased number of teeth hallmark (90%) HP:0011069
11 sinusitis typical (50%) HP:0000246
12 small face typical (50%) HP:0000274
13 sloping forehead typical (50%) HP:0000340
14 hearing impairment typical (50%) HP:0000365
15 otitis media typical (50%) HP:0000388
16 delayed eruption of teeth typical (50%) HP:0000684
17 dental malocclusion typical (50%) HP:0000689
18 abnormality of the ribs typical (50%) HP:0000772
19 narrow chest typical (50%) HP:0000774
20 brachydactyly syndrome typical (50%) HP:0001156
21 decreased skull ossification typical (50%) HP:0004331
22 reduced bone mineral density typical (50%) HP:0004349
23 abnormality of the sacrum typical (50%) HP:0005107
24 cleft palate occasional (7.5%) HP:0000175
25 macrocephaly occasional (7.5%) HP:0000256
26 abnormality of the thumb occasional (7.5%) HP:0001172
27 tapered finger occasional (7.5%) HP:0001182
28 apnea occasional (7.5%) HP:0002104
29 abnormality of pelvic girdle bone morphology occasional (7.5%) HP:0002644
30 scoliosis occasional (7.5%) HP:0002650
31 recurrent fractures occasional (7.5%) HP:0002757
32 genu valgum occasional (7.5%) HP:0002857
33 abnormality of epiphysis morphology occasional (7.5%) HP:0005930
34 short femoral neck HP:0100864
35 midface retrusion HP:0011800
36 increased number of teeth HP:0011069
37 increased bone mineral density HP:0011001
38 cone-shaped epiphyses of the phalanges of the hand HP:0010230
39 short middle phalanx of the 2nd finger HP:0009577
40 moderately short stature HP:0008848
41 delayed pubic bone ossification HP:0008788
42 aplastic clavicles HP:0006660
43 hypoplasia of dental enamel HP:0006297
44 long second metacarpal HP:0006040
45 depressed nasal bridge HP:0005280
46 abnormal facility in opposing the shoulders HP:0005259
47 persistent open anterior fontanelle HP:0004474
48 short middle phalanx of the 5th finger HP:0004220
49 syringomyelia HP:0003396
50 spondylolysis HP:0003304
51 spondylolisthesis HP:0003302
52 wide pubic symphysis HP:0003183
53 hypoplastic iliac wing HP:0002866
54 coxa vara HP:0002812
55 kyphosis HP:0002808
56 hypoplastic frontal sinuses HP:0002738
57 large foramen magnum HP:0002700
58 absent paranasal sinuses HP:0002689
59 absent frontal sinuses HP:0002688
60 thickened calvaria HP:0002684
61 increased susceptibility to fractures HP:0002659
62 scoliosis HP:0002650
63 wormian bones HP:0002645
64 neonatal respiratory distress HP:0002643
65 frontal bossing HP:0002007
66 brachydactyly syndrome HP:0001156
67 short clavicles HP:0000894
68 cervical ribs HP:0000891
69 hypoplastic scapulae HP:0000882
70 narrow chest HP:0000774
71 short ribs HP:0000773
72 delayed eruption of permanent teeth HP:0000696
73 delayed eruption of primary teeth HP:0000680
74 hearing impairment HP:0000365
75 micrognathia HP:0000347
76 hypertelorism HP:0000316
77 malar flattening HP:0000272
78 parietal bossing HP:0000242
79 high palate HP:0000218
80 narrow palate HP:0000189
81 cleft palate HP:0000175

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 Dysplasia22 RUNX2

Anatomical Context for Cleidocranial Dysplasia

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MalaCards organs/tissues related to Cleidocranial Dysplasia:

33
Bone, Lung, Pituitary, Liver, Heart, Breast, Brain

FMA organs/tissues related to Cleidocranial Dysplasia:

16
Clavicle, Skull

Animal Models for Cleidocranial Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Cleidocranial Dysplasia:

38 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5CBFB, MSX2, RUNX2, SHH, VEGFB
2MP:00053818.4CBFB, MSX2, RUNX2, RUNX3, SHH
3MP:00053698.3FIG4, MSX2, RUNX2, RUNX3, SHH
4MP:00107718.1CBFB, FIG4, MSX2, RUNX2, RUNX3, SHH
5MP:00053798.1CBFB, COL10A1, MSX2, RUNX2, RUNX3, SHH
6MP:00053867.7COL10A1, FIG4, MSX2, RUNX3, SHH, VEGFB
7MP:00053857.7CBFB, FIG4, MSX2, RUNX2, SHH, VEGFB
8MP:00053717.6CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
9MP:00053827.4CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
10MP:00053787.3CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
11MP:00053907.2CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
12MP:00053877.1CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
13MP:00036317.0CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
14MP:00053976.9CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3
15MP:00107686.9CBFB, COL10A1, FIG4, MSX2, RUNX2, RUNX3

Publications for Cleidocranial Dysplasia

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Articles related to Cleidocranial Dysplasia:

(show top 49)    (show all 268)
idTitleAuthorsYear
1
Fetal Spinal Deformity Caused by Uterine Synechiae Mimicking Severe Scoliosis: A Case Report. (27172642)
2016
2
Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea. (26966880)
2016
3
EIF4G1 mutations do not cause Parkinson's disease. (26022768)
2015
4
Targeting the HIV RNA genome: high-hanging fruit only needs a longer ladder. (25735922)
2015
5
Wnt3a signal pathways activate MyoD expression by targeting cis-elements inside and outside its distal enhancer. (25651906)
2015
6
Optimising exercise training in prevention and treatment of diastolic heart failure (OptimEx-CLIN): rationale and design of a prospective, randomised, controlled trial. (25354950)
2014
7
Serum protein S9, SOD3 and MMP9 as new diagnostic biomarkers for pulmonary tuberculosis by iTRAQ-coupled two-dimensional LC-MS/MS. (25332062)
2014
8
An atypical case of tularemia presented with pseudoptosis. (24659144)
2014
9
Angiosarcoma of the humerus presenting with fluid-fluid levels on MRI: a unique imaging presentation. (23722293)
2013
10
Zeaxanthin Induces Apoptosis in Human Uveal Melanoma Cells through Bcl-2 Family Proteins and Intrinsic Apoptosis Pathway. (24223611)
2013
11
Tumor localization and biochemical response to cure in tumor-induced osteomalacia. (23362135)
2013
12
Perforated diverticulitis with fistula mimicking an inguinal hernia. (23336644)
2013
13
Solitary Epicranial Neurofibroma With NF1-Related Germline Mutation: Case Report. (24140765)
2013
14
Genotypic characterization and evaluation of an antibiotic resistance of Trueperella pyogenes (Arcanobacterium pyogenes) isolated from milk of dairy cows with clinical mastitis. (22868181)
2012
15
Leukemia risk models in primary myelofibrosis: an International Working Group study. (22289985)
2012
16
Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex. (22035404)
2012
17
A de novo 4.4-Mb microdeletion in 2p24.3 a89 p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome. (22842076)
2012
18
DEC1 nuclear expression: a marker of differentiation grade in hepatocellular carcinoma. (21528084)
2011
19
Autophagy regulation by p53. (20044243)
2010
20
Results of laparoscopic sleeve gastrectomy: a prospective study in 135 patients with morbid obesity. (19081482)
2009
21
Correspondence between self-report and interview-based assessments of antisocial personality disorder. (18315398)
2008
22
Adrenodoxin supports reactions catalyzed by microsomal steroidogenic cytochrome P450s. (17188650)
2007
23
Development of a novel bioavailable inhibitor of the calmodulin-regulated protein kinase MLCK: a lead compound that attenuates vascular leak. (16996151)
2006
24
Modulation of Gq-protein-coupled inositol trisphosphate and Ca2+ signaling by the membrane potential. (17005862)
2006
25
Pharmacologic therapy for gastrointestinal bleeding due to portal hypertension and esophageal varices. (16510029)
2006
26
Leptin is not involved in the pathophysiology of endometriosis-related infertility. (15808381)
2005
27
Expression of CD86 and increased infiltration of NK cells are associated with Helicobacter pylori-dependent state of early stage high-grade gastric MALT lymphoma. (16038034)
2005
28
Modulation of androgen receptor transactivation by FoxH1. A newly identified androgen receptor corepressor. (16120611)
2005
29
Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis. (16255050)
2005
30
Acetylation of GATA-4 is involved in the differentiation of embryonic stem cells into cardiac myocytes. (15764815)
2005
31
Simian virus 40 large T antigen's association with the CUL7 SCF complex contributes to cellular transformation. (16140746)
2005
32
PRMT3 is a ribosomal protein methyltransferase that affects the cellular levels of ribosomal subunits. (15175657)
2004
33
Elbow synovectomy on patients with juvenile rheumatoid arthritis. (12838054)
2003
34
Coal-induced interleukin-6 gene expression is mediated through ERKs and p38 MAPK pathways. (12915102)
2003
35
Cell surface glycoprotein PZR is a major mediator of concanavalin A- induced cell signaling. (11751924)
2002
36
Thrombin activates the hypoxia-inducible factor-1 signaling pathway in vascular smooth muscle cells: Role of the p22(phox)-containing NADPH oxidase. (11440977)
2001
37
Separate roles for H-Ras and Rac in signaling by transforming growth factor (TGF)-beta. H-Ras is essential for activation of MAP kinase, partially required for transcriptional activation by TGF-beta, but not required for signaling of growth suppression by TGF-beta. (10447679)
1999
38
hnRNP complexes: composition, structure, and function. (10395553)
1999
39
CD36 is required for phagocytosis of apoptotic cells by human macrophages that use either a phosphatidylserine receptor or the vitronectin receptor (alpha v beta 3). (9834113)
1998
40
IRP-1 binding to ferritin mRNA prevents the recruitment of the small ribosomal subunit by the cap-binding complex eIF4F. (9774976)
1998
41
PLD2 complexes with the EGF receptor and undergoes tyrosine phosphorylation at a single site upon agonist stimulation. (9837959)
1998
42
Immunocytochemical co-localization of the proteasome in ubiquitinated structures in neurodegenerative diseases and the elderly. (9034365)
1997
43
Expression of the Fas antigen on primary human leukemia cells. (7530054)
1995
44
21-Hydroxylase, a major autoantigen in idiopathic Addison's disease. (1351548)
1992
45
Participation of non-zinc finger residues in DNA binding by two nuclear orphan receptors. (1314418)
1992
46
Membrane-bound carbonic anhydrase CA IV in the human kidney. (1904675)
1991
47
Cytokines and the liver]. (19256129)
1990
48
Study of the immune state in patients with a history of subacute bacterial endocarditis and in their direct relatives. Pathogenic implications. (7268281)
1981
49
Chorea gravidarum; review of the recent literature and report of five cases. (18864038)
1948

Variations for Cleidocranial Dysplasia

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

67 (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_012137
6RUNX2p.Met175ArgVAR_012138
7RUNX2p.Arg190GlnVAR_012139
8RUNX2p.Arg190TrpVAR_012140
9RUNX2p.Ser191AsnVAR_012141
10RUNX2p.Arg193CysVAR_012142
11RUNX2p.Phe197SerVAR_012143
12RUNX2p.Leu199PheVAR_012144
13RUNX2p.Thr200AlaVAR_012145
14RUNX2p.Thr205ArgVAR_012146
15RUNX2p.Gln209ArgVAR_012147
16RUNX2p.Arg225GlnVAR_012148
17RUNX2p.Arg225TrpVAR_012149
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_064089
27RUNX2p.Met175LysVAR_064090
28RUNX2p.Met175ValVAR_064091
29RUNX2p.Phe187SerVAR_064092
30RUNX2p.Arg193GlnVAR_064093
31RUNX2p.Thr200IleVAR_064094
32RUNX2p.Ile201LysVAR_064095
33RUNX2p.Gln209HisVAR_064096
34RUNX2p.Ala211ProVAR_064097
35RUNX2p.Lys218GluVAR_064098
36RUNX2p.Lys218AsnVAR_064099
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)single nucleotide variantPathogenicrs864621970GRCh37Chr 6, 45399652: 45399652
2RUNX2NM_001024630.3(RUNX2): c.1171C> T (p.Arg391Ter)single nucleotide variantPathogenicrs397515537GRCh37Chr 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)single nucleotide variantPathogenicrs104893988GRCh37Chr 6, 45480014: 45480014
6RUNX2NM_001024630.3(RUNX2): c.524T> G (p.Met175Arg)single nucleotide variantPathogenicrs104893989GRCh37Chr 6, 45399700: 45399700
7RUNX2NM_001024630.3(RUNX2): c.572G> A (p.Ser191Asn)single nucleotide variantPathogenicrs104893990GRCh37Chr 6, 45399748: 45399748
8RUNX2NM_001024630.3(RUNX2): c.674G> A (p.Arg225Gln)single nucleotide variantPathogenicrs104893991GRCh37Chr 6, 45405777: 45405777
9RUNX2NM_001024630.3(RUNX2): c.673C> T (p.Arg225Trp)single nucleotide variantPathogenicrs104893992GRCh37Chr 6, 45405776: 45405776
10RUNX2NM_001024630.3(RUNX2): c.598A> G (p.Thr200Ala)single nucleotide variantPathogenicrs104893993GRCh37Chr 6, 45405701: 45405701
11RUNX2NM_001024630.3(RUNX2): c.1565G> C (p.Ter522Ser)single nucleotide variantPathogenicrs104893994GRCh37Chr 6, 45515041: 45515041
12RUNX2NM_001024630.3(RUNX2): c.506G> C (p.Arg169Pro)single nucleotide variantPathogenicrs104893995GRCh37Chr 6, 45399682: 45399682
13RUNX2NM_001024630.3(RUNX2): c.1228dupC (p.Leu410Profs)duplicationPathogenicrs730880315GRCh37Chr 6, 45514704: 45514704

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1stem cell differentiationGO:004886310.3MSX2, RUNX2
2BMP signaling pathwayGO:003050910.2MSX2, RUNX2
3positive regulation of osteoblast differentiationGO:004566910.1MSX2, RUNX2
4regulation of cell differentiationGO:004559510.1RUNX2, RUNX3
5cell maturationGO:004846910.1CBFB, RUNX2
6chondrocyte developmentGO:000206310.1MSX2, RUNX2
7embryonic hindlimb morphogenesisGO:00351169.8MSX2, SHH
8embryonic digit morphogenesisGO:00427339.8MSX2, SHH
9anterior/posterior pattern specificationGO:00099529.7MSX2, SHH
10odontogenesisGO:00424769.7MSX2, SHH
11positive regulation of cell divisionGO:00517819.6SHH, VEGFB
12odontogenesis of dentin-containing toothGO:00424759.6RUNX2, SHH
13embryonic limb morphogenesisGO:00303269.3MSX2, SHH
14negative regulation of gene expressionGO:00106299.2SHH, VEGFB
15ossificationGO:00015039.2CBFB, MSX2, RUNX2, RUNX3
16positive regulation of transcription, DNA-templatedGO:00458939.1RUNX2, RUNX3, SHH
17regulation of transcription, DNA-templatedGO:00063558.2RUNX2, RUNX3, SHH, TCF7
18negative regulation of transcription from RNA polymerase II promoterGO:00001228.1MSX2, RUNX3, SHH, TCF7

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.8MSX2, RUNX2

Sources for Cleidocranial Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet