CCD RUNX2
Disease ID
CCD
Gene ID
RUNX2
Updated
Dec 9, 2024
v2.0.0
v2.0.0
Disease
Name
Cleidocranial dysplasia
Inheritance
Autosomal dominant Description
Age of Onset Details
Locus
Details
Location in Gene
Exon 3
Gene Strand
Alleles
Ref. Motif
GCN
Pathogenic (ref.)
GCN
Pathogenic (gene)
CNG
gnomAD
Pathogenic genotype frequency data is not displayed for this locus because a substantial number of large alleles failed manual review by the gnomAD team.
References
Direct supporting references for info on this page.
3
Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions
Stephanie E.,Wallace, Lora JH,Bean
GeneReviews® [Internet] · 2022-10-20
genereviews:NBK5351484
Cleidocranial Dysplasia Spectrum Disorder
Keren,Machol, Roberto,Mendoza-Londono, Brendan,Lee
GeneReviews® · 1993-01-01
genereviews:NBK15136
Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient.
Akio,Shibata, Junichiro,Machida, Seishi,Yamaguchi, Masashi,Kimura, Tadashi,Tatematsu, Hitoshi,Miyachi, Masaki,Matsushita, Hiroshi,Kitoh, Naoki,Ishiguro, Atsuo,Nakayama, Yujiro,Higashi, Kazuo,Shimozato, Yoshihito,Tokita
Mutagenesis · 2015-07-28
pmid:262200097
RUNX2 analysis of Danish cleidocranial dysplasia families.
L,Hansen, A K,Riis, A,Silahtaroglu, H,Hove, E,Lauridsen, H,Eiberg, S,Kreiborg
Clinical genetics · 2011-03-01
pmid:205609878
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.
S,Mundlos, F,Otto, C,Mundlos, J B,Mulliken, A S,Aylsworth, S,Albright, D,Lindhout, W G,Cole, W,Henn, J H,Knoll, M J,Owen, R,Mertelsmann, B U,Zabel, B R,Olsen
Cell · 1997-05-30
pmid:9182765Additional Literature
Additional literature related to this locus.
Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem
repeats, and disease, in medline format)
Effects of G-CSF on hPDLSC proliferation and osteogenic differentiation in the LPS-induced inflammatory microenvironment.
Hui,Yu, Pengcheng,Wang, Haibin,Lu, Jiurong,Guan, Fang,Yao, Tianyi,Zhang, Qiuxu,Wang, Zuomin,Wang
BMC oral health · 2023-06-26
pmid:37365568Osmolarity modulates the de-differentiation of horse articular chondrocytes during cell expansion in vitro: implications for tissue engineering in cartilage repair.
Elena,De Angelis, Amelia,Barilli, Roberta,Saleri, Bianca Maria,Rotoli, Francesca,Ravanetti, Francesca,Ferrari, Luca,Ferrari, Paolo,Martelli, Valeria,Dall'Asta, Paolo,Borghetti
Veterinary research communications · 2023-05-19
pmid:37202645Unblending of Transcriptional Condensates in Human Repeat Expansion Disease.
Shaon,Basu, Sebastian D,Mackowiak, Henri,Niskanen, Dora,Knezevic, Vahid,Asimi, Stefanie,Grosswendt, Hylkje,Geertsema, Salaheddine,Ali, Ivana,Jerković, Helge,Ewers, Stefan,Mundlos, Alexander,Meissner, Daniel M,Ibrahim, Denes,Hnisz
Cell · 2020-05-07
pmid:32386547Association of polyalanine and polyglutamine coiled coils mediates expansion disease-related protein aggregation and dysfunction.
Ilaria,Pelassa, Davide,Corà, Federico,Cesano, Francisco J,Monje, Pier Giorgio,Montarolo, Ferdinando,Fiumara
Human molecular genetics · 2014-02-04
pmid:24497578Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation.
Nigel A,Morrison, Alexandre A,Stephens, Motomi,Osato, Patsie,Polly, Timothy C,Tan, Namiko,Yamashita, James D,Doecke, Julie,Pasco, Nicolette,Fozzard, Graeme,Jones, Stuart H,Ralston, Philip N,Sambrook, Richard L,Prince, Geoff C,Nicholson
PloS one · 2012-08-13
pmid:22912713The polycystic kidney disease 1 (Pkd1) gene is required for the responses of osteochondroprogenitor cells to midpalatal suture expansion in mice.
Bo,Hou, Elona,Kolpakova-Hart, Naomi,Fukai, Kimberly,Wu, Bjorn R,Olsen
Bone · 2009-03-02
pmid:19264154