MCID: CLD019
MIFTS: 22

Cleidocranial Dysplasia Spectrum Disorder

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

Aliases & Classifications for Cleidocranial Dysplasia Spectrum Disorder

MalaCards integrated aliases for Cleidocranial Dysplasia Spectrum Disorder:

Name: Cleidocranial Dysplasia Spectrum Disorder 24
Cleidocranial Dysostosis 24
Cleidocranial Dysplasia 72

Characteristics:

GeneReviews:

24
Penetrance Pathogenic variants in runx2 have a high penetrance and extreme variability.

Classifications:



External Ids:

UMLS 72 C0008928

Summaries for Cleidocranial Dysplasia Spectrum Disorder

MalaCards based summary : Cleidocranial Dysplasia Spectrum Disorder, also known as cleidocranial dysostosis, is related to cleidocranial dysplasia, recessive form and dysostosis. An important gene associated with Cleidocranial Dysplasia Spectrum Disorder is RUNX2 (RUNX Family Transcription Factor 2). The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow.

GeneReviews: NBK1513

Related Diseases for Cleidocranial Dysplasia Spectrum Disorder

Diseases in the Cleidocranial Dysplasia family:

Cleidocranial Dysplasia, Recessive Form Cleidocranial Dysplasia Spectrum Disorder

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 cleidocranial dysplasia, recessive form 11.7
2 dysostosis 11.4
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
4 coxa vara 10.4
5 scoliosis 10.4
6 hypertelorism 10.3
7 syringomyelia, noncommunicating isolated 10.3
8 branchiootic syndrome 1 10.3
9 limb ischemia 10.3
10 osteopetrosis 10.3
11 neurilemmoma 10.3
12 ischemia 10.3
13 syringomyelia 10.3
14 acroosteolysis 10.1
15 atrial standstill 1 10.1
16 clavicle, pseudarthrosis of, congenital 10.1
17 attention deficit-hyperactivity disorder 10.1
18 endosteal hyperostosis, autosomal dominant 10.1
19 spondylolisthesis 10.1
20 yunis-varon syndrome 10.1
21 pycnodysostosis 10.1
22 ataxia and polyneuropathy, adult-onset 10.1
23 brittle bone disorder 10.1
24 alacrima, achalasia, and mental retardation syndrome 10.1
25 hypogonadotropic hypogonadism 10.1
26 sensorineural hearing loss 10.1
27 telangiectasis 10.1
28 tuberous sclerosis 10.1
29 facial paralysis 10.1
30 hypophosphatasia 10.1
31 root resorption 10.1
32 squamous cell carcinoma 10.1
33 epilepsy 10.1
34 hypogonadism 10.1
35 spondylosis 10.1
36 hypogonadotropism 10.1
37 learning disability 10.1
38 col1a1/2-related osteogenesis imperfecta 10.1
39 arachnoid cysts 10.1
40 congenital pseudoarthrosis 10.1
41 perniosis 10.1
42 raynaud phenomenon 10.1
43 congenital pseudoarthrosis of the femur 10.1
44 congenital pseudoarthrosis of the tibia 10.1
45 pili gemini 10.1
46 cleidocranial dysplasia 10.1
47 teeth, supernumerary 10.1
48 bone mineral density quantitative trait locus 3 10.1

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



Diseases related to Cleidocranial Dysplasia Spectrum Disorder

Symptoms & Phenotypes for Cleidocranial Dysplasia Spectrum Disorder

Drugs & Therapeutics for Cleidocranial Dysplasia Spectrum Disorder

Drugs for Cleidocranial Dysplasia Spectrum Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224

Search NIH Clinical Center for Cleidocranial Dysplasia Spectrum Disorder

Genetic Tests for Cleidocranial Dysplasia Spectrum Disorder

Anatomical Context for Cleidocranial Dysplasia Spectrum Disorder

MalaCards organs/tissues related to Cleidocranial Dysplasia Spectrum Disorder:

41
Bone, Liver, Bone Marrow, Myeloid, Heart, Skin, Kidney

Publications for Cleidocranial Dysplasia Spectrum Disorder

Articles related to Cleidocranial Dysplasia Spectrum Disorder:

(show top 50) (show all 528)
# Title Authors PMID Year
1
Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families. 38 4
28027977 2017
2
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation. 38 4
27272193 2016
3
Patients with isolated oligo/hypodontia caused by RUNX2 duplication. 38 4
25899668 2015
4
Clavicle lengthening by distraction osteogenesis for congenital clavicular hypoplasia: case series and description of technique. 38 4
23482270 2013
5
RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis. 38 4
23348268 2013
6
Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience. 38 4
23102800 2013
7
Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. 38 4
22717651 2012
8
Analysis of skeletal dysplasias in the Utah population. 38 4
22461456 2012
9
Cleidocranial dysplasia: oral features and genetic analysis of 11 patients. 38 4
22023169 2012
10
A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia. 38 4
21466863 2011
11
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. 38 4
20648631 2010
12
Anesthetic management of a patient with cleidocranial dysplasia undergoing various obstetric procedures. 38 4
19945847 2010
13
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. 38 4
20014132 2010
14
Correction of depressed forehead with BoneSource in cleidocranial dysplasia. 38 4
19305258 2009
15
Prenatal 3D ultrasound diagnostics in cleidocranial dysplasia. 38 4
19169035 2009
16
De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia. 38 4
18203189 2008
17
The presence of germ line mosaicism in cleidocranial dysplasia. 38 4
17539909 2007
18
Dysregulation of chondrogenesis in human cleidocranial dysplasia. 38 4
15952089 2005
19
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB. 38 4
15566413 2004
20
Early craniofacial signs of cleidocranial dysplasia. 38 4
14706028 2004
21
Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systematic review. 38 4
15070835 2003
22
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. 38 4
14571277 2003
23
Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings. 38 4
12972925 2003
24
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. 38 4
12424590 2002
25
Severe cleidocranial dysplasia can mimic hypophosphatasia. 38 4
12424591 2002
26
Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. 38 4
12196916 2002
27
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. 38 4
11857736 2002
28
A natural history of cleidocranial dysplasia. 38 4
11746020 2001
29
A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity. 38 4
11321595 2000
30
Early prenatal ultrasound diagnosis of cleidocranial dysplasia. 38 4
10776001 2000
31
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 38 4
10521292 1999
32
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 38 4
10545612 1999
33
Cleidocranial dysplasia: radiological appearances on dental panoramic radiography. 38 4
10522197 1999
34
Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function. 38 4
9434946 1998
35
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 38 4
9207800 1997
36
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 38 4
9182765 1997
37
Cleidocranial dysplasia: Part 2--Treatment protocol for the orthodontic and surgical modality. 38 4
9057617 1997
38
Cleidocranial dysplasia: Part 1--General principles of the orthodontic and surgical treatment modality. 38 4
9009920 1997
39
Genetic analysis of non-syndromic familial multiple supernumerary premolars. 4
28393601 2017
40
Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. 4
20683987 2010
41
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS. 4
15924278 2005
42
Case of odontoma-related infection in a cleidocranial dysplasia. 38
31296636 2019
43
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia. 38
31347140 2019
44
Combined Orthodontic-Surgical Sequential Treatment of Cleidocranial Dysplasia: A Case Report With 7-Year Follow-up and Review of the Literature. 38
31192880 2019
45
microRNA-31 inhibition partially ameliorates the deficiency of bone marrow stromal cells from cleidocranial dysplasia. 38
30506733 2019
46
The Treatment Strategy of Cleidocranial Dysplasia: Combined Orthodontic and Orthognathic Treatment. 38
30950953 2019
47
Cleidocranial dysplasia syndrome with epilepsy: a case report. 38
30961565 2019
48
The ERK MAPK Pathway Is Essential for Skeletal Development and Homeostasis. 38
31013682 2019
49
Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia. 38
30798031 2019
50
Runx2 regulates cranial suture closure by inducing hedgehog, Fgf, Wnt and Pthlh signaling pathway gene expressions in suture mesenchymal cells. 38
30445456 2019

Variations for Cleidocranial Dysplasia Spectrum Disorder

Expression for Cleidocranial Dysplasia Spectrum Disorder

Search GEO for disease gene expression data for Cleidocranial Dysplasia Spectrum Disorder.

Pathways for Cleidocranial Dysplasia Spectrum Disorder

GO Terms for Cleidocranial Dysplasia Spectrum Disorder

Sources for Cleidocranial Dysplasia Spectrum Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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