MCID: CLD001
MIFTS: 62

Cleidocranial Dysplasia malady

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

Aliases & Classifications for Cleidocranial Dysplasia

About this section
Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cleidocranial Dysplasia:

Name: Cleidocranial Dysplasia 50 11 22 46 23 24 13 52 68 12 48 37 66
Cleidocranial Dysostosis 11 22 46 23 24 52 68 25
Marie-Sainton Disease 11 46
Clcd 46 68
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 50
 
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 50
Dysplasia Cleidocranial 46
Marie-Sainton Syndrome 24
Ccd 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
cleidocranial dysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 119600
Disease Ontology11 DOID:13994
ICD1028 Q74.0
MeSH37 D002973
NCIt43 C75020
SNOMED-CT60 240193006, 65976001
Orphanet52 ORPHA1452
ICD10 via Orphanet29 Q74.0
MESH via Orphanet38 D002973
UMLS via Orphanet67 C0008928

Summaries for Cleidocranial Dysplasia

About this section
NIH Rare Diseases:46 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 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 TGF Beta Signaling Pathway and FGF signaling pathway. Affiliated tissues include clavicle, skull and bone, and related mouse phenotypes are no phenotypic analysis and vision/eye.

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:68 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:24 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:50 The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia... (119600) more...

Wikipedia:69 Cleidocranial dysostosis, also called cleidocranial dysplasia or mutational dysostosis, is a hereditary... more...

GeneReviews summary for NBK1513

Related Diseases for Cleidocranial Dysplasia

About this section

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 43)
idRelated DiseaseScoreTop Affiliating Genes
1parietal foramina with cleidocranial dysplasia12.4
2cleidocranial dysplasia recessive form12.0
3central core disease11.8
4yunis-varon syndrome11.7
5night blindness, congenital stationary , 1b, autosomal recessive10.4MSX2, RUNX2
6critical congenital heart disease10.2CBFB, RUNX2
7hypophosphatasia10.1
8orbital granuloma10.1CBFB, MSX2, RUNX2
9ehlers-danlos syndrome, musculocontractural type 210.1COL10A1, RUNX2
10congenital chloride diarrhea10.0
11leukemia10.0
12myeloid leukemia10.0
13root resorption10.0
14malignant hyperthermia10.0
15malignant hyperthermia susceptibility10.0
16chondrocalcinosis 210.0COL10A1, MSX2
17cerebral creatine deficiency syndrome 29.9
18cerebral creatine deficiency syndrome 19.9
19spondylo-megaepiphyseal-metaphyseal dysplasia9.9
20holoprosencephaly9.9
21thalassemia9.9
22congenital hypothyroidism9.9
23rickets9.9
24ovarian disease9.9
25ehlers-danlos syndrome9.9
26hypothyroidism9.9
27dysostosis9.9
28syringomyelia9.9
29periodontitis9.9
30psoriasis9.9
31cleft lip9.9
32thalassemia minor9.9
33atlantoaxial subluxation9.9
34central nervous system leukemia9.9FGFR1, MSX2
35intellectual disability9.9
36syphilitic myelopathy9.8FGFR1, RUNX2
37neuropathy9.8CBFB, RUNX2, RUNX3
38jackson-weiss syndrome9.7FGFR1, RUNX2
39ischemic bone disease9.6FGFR1, MSX2, RUNX2
40craniosynostosis, type 19.6FGFR1, MSX2, RUNX2
41beare-stevenson cutis gyrata syndrome9.4FGFR1, MSX2
42leukemia, acute myeloid9.1CBFB, FGFR1, RUNX2, RUNX3
43metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly6.8CBFB, COL10A1, FGFR1, FIG4, MSX2, RUNX2

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



Diseases related to cleidocranial dysplasia

Symptoms for Cleidocranial Dysplasia

About this section

Symptoms by clinical synopsis from OMIM:

119600

Clinical features from OMIM:

119600

Symptoms:

 52 (show all 55)
  • glossoptosis
  • abnormality of the teeth
  • cleft palate
  • large fontanelles
  • sinusitis
  • brachycephaly
  • macrocephaly
  • mandibular prognathia
  • hypertelorism
  • broad forehead
  • sloping forehead
  • micrognathia
  • hearing abnormality
  • hearing impairment
  • chronic otitis media
  • carious teeth
  • abnormality of dental enamel
  • delayed eruption of teeth
  • abnormality of the ribs
  • narrow chest
  • hypoplastic scapulae
  • short clavicles
  • osteoporosis
  • brachydactyly syndrome
  • abnormality of the metacarpal bones
  • abnormality of the thumb
  • tapered finger
  • dystrophic toenail
  • frontal bossing
  • recurrent respiratory infections
  • abnormality of pelvic girdle bone morphology
  • wormian bones
  • scoliosis
  • skeletal dysplasia
  • high, narrow palate
  • recurrent fractures
  • coxa vara
  • genu valgum
  • spina bifida occulta
  • clinodactyly of the 5th finger
  • short stature
  • decreased skull ossification
  • abnormality of the sacrum
  • depressed nasal bridge
  • abnormality of epiphysis morphology
  • dystrophic fingernails
  • hypoplastic inferior ilia
  • sleep apnea
  • cheekbone underdevelopment
  • chin dimple
  • open bite
  • increased number of teeth
  • short face
  • midface retrusion
  • down-sloping shoulders

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 cleft palate HP:0000175
35 narrow palate HP:0000189
36 high palate HP:0000218
37 parietal bossing HP:0000242
38 malar flattening HP:0000272
39 hypertelorism HP:0000316
40 micrognathia HP:0000347
41 hearing impairment HP:0000365
42 delayed eruption of primary teeth HP:0000680
43 delayed eruption of permanent teeth HP:0000696
44 short ribs HP:0000773
45 narrow chest HP:0000774
46 hypoplastic scapulae HP:0000882
47 cervical ribs HP:0000891
48 short clavicles HP:0000894
49 brachydactyly syndrome HP:0001156
50 frontal bossing HP:0002007
51 neonatal respiratory distress HP:0002643
52 wormian bones HP:0002645
53 scoliosis HP:0002650
54 increased susceptibility to fractures HP:0002659
55 thickened calvaria HP:0002684
56 absent frontal sinuses HP:0002688
57 absent paranasal sinuses HP:0002689
58 large foramen magnum HP:0002700
59 hypoplastic frontal sinuses HP:0002738
60 kyphosis HP:0002808
61 coxa vara HP:0002812
62 hypoplastic iliac wing HP:0002866
63 wide pubic symphysis HP:0003183
64 spondylolisthesis HP:0003302
65 spondylolysis HP:0003304
66 syringomyelia HP:0003396
67 short middle phalanx of the 5th finger HP:0004220
68 persistent open anterior fontanelle HP:0004474
69 abnormal facility in opposing the shoulders HP:0005259
70 depressed nasal bridge HP:0005280
71 long second metacarpal HP:0006040
72 hypoplasia of dental enamel HP:0006297
73 aplastic clavicles HP:0006660
74 delayed pubic bone ossification HP:0008788
75 moderately short stature HP:0008848
76 short middle phalanx of the 2nd finger HP:0009577
77 cone-shaped epiphyses of the phalanges of the hand HP:0010230
78 increased bone mineral density HP:0011001
79 increased number of teeth HP:0011069
80 midface retrusion HP:0011800
81 short femoral neck HP:0100864

Drugs & Therapeutics for Cleidocranial Dysplasia

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cleidocranial Dysplasia


Cochrane evidence based reviews: cleidocranial dysplasia

Genetic Tests for Cleidocranial Dysplasia

About this section

Genetic tests related to Cleidocranial Dysplasia:

id Genetic test Affiliating Genes
1 Cleidocranial Dysostosis25
2 Cleidocranial Dysplasia23 RUNX2

Anatomical Context for Cleidocranial Dysplasia

About this section

MalaCards organs/tissues related to Cleidocranial Dysplasia:

34
Bone, Myeloid, Uterus, Kidney, B cells

FMA organs/tissues related to Cleidocranial Dysplasia:

17
Clavicle, Skull

Animal Models for Cleidocranial Dysplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Cleidocranial Dysplasia:

39 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.5CBFB, FGFR1, RUNX2, RUNX3, SHH
2MP:00053918.3CBFB, FGFR1, MSX2, RUNX2, SHH
3MP:00053818.1CBFB, FGFR1, MSX2, RUNX2, RUNX3, SHH
4MP:00053697.8FGFR1, FIG4, MSX2, RUNX2, RUNX3, SHH
5MP:00053857.6CBFB, FGFR1, FIG4, MSX2, RUNX2, SHH
6MP:00107717.5CBFB, FGFR1, FIG4, MSX2, RUNX2, RUNX3
7MP:00053977.5CBFB, COL10A1, FGFR1, FIG4, MSX2, RUNX2
8MP:00053797.5CBFB, COL10A1, FGFR1, MSX2, RUNX2, RUNX3
9MP:00053827.1CBFB, COL10A1, FGFR1, FIG4, MSX2, RUNX2
10MP:00053877.0CBFB, COL10A1, FGFR1, FIG4, MSX2, RUNX2
11MP:00107686.8CBFB, COL10A1, FGFR1, FIG4, MSX2, RUNX2
12MP:00036316.8CBFB, COL10A1, FGFR1, FIG4, MSX2, RUNX2
13MP:00053906.6CBFB, COL10A1, FGFR1, FIG4, MSX2, RUNX2
14MP:00053786.5CBFB, COL10A1, FGFR1, FIG4, MSX2, RUNX2
15MP:00053716.3CBFB, COL10A1, FGFR1, FIG4, MSX2, RUNX2

Publications for Cleidocranial Dysplasia

About this section

Articles related to Cleidocranial Dysplasia:

(show top 50)    (show all 279)
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

About this section

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

68 (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)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

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

About this section
Search GEO for disease gene expression data for Cleidocranial Dysplasia.

Pathways for genes affiliated with Cleidocranial Dysplasia

About this section

Pathways related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7RUNX2, RUNX3
29.6FGFR1, RUNX2
39.5RUNX2, SHH
48.9RUNX3, SHH, TCF7
58.8COL10A1, FGFR1, RUNX2, RUNX3

GO Terms for genes affiliated with Cleidocranial Dysplasia

About this section

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1stem cell differentiationGO:004886310.4MSX2, RUNX2
2chondrocyte developmentGO:000206310.4MSX2, RUNX2
3skeletal system morphogenesisGO:004870510.2FGFR1, RUNX2
4positive regulation of osteoblast differentiationGO:004566910.1MSX2, RUNX2
5odontogenesisGO:004247610.0MSX2, SHH
6embryonic digestive tract morphogenesisGO:004855710.0SHH, TCF7
7embryonic digit morphogenesisGO:004273310.0MSX2, SHH
8embryonic hindlimb morphogenesisGO:003511610.0MSX2, SHH
9endochondral ossificationGO:000195810.0COL10A1, RUNX2
10odontogenesis of dentin-containing toothGO:00424759.9RUNX2, SHH
11branching involved in salivary gland morphogenesisGO:00604459.8FGFR1, SHH
12positive regulation of mesenchymal cell proliferationGO:00020539.8FGFR1, SHH
13phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.8FGFR1, FIG4
14osteoblast developmentGO:00020769.8MSX2, RUNX2, SHH
15cell maturationGO:00484699.8CBFB, FGFR1, RUNX2
16midbrain developmentGO:00309019.8FGFR1, SHH
17osteoblast differentiationGO:00016499.7CBFB, MSX2, RUNX2
18regulation of cell differentiationGO:00455959.7FGFR1, RUNX2, RUNX3
19chondrocyte differentiationGO:00020629.7FGFR1, RUNX2, RUNX3
20embryonic forelimb morphogenesisGO:00351159.7MSX2, RUNX2, SHH
21skeletal system developmentGO:00015019.4COL10A1, FGFR1, RUNX2
22embryonic limb morphogenesisGO:00303269.2FGFR1, MSX2, SHH
23lung-associated mesenchyme developmentGO:00604849.2FGFR1, SHH
24ossificationGO:00015039.2CBFB, MSX2, RUNX2, RUNX3
25regulation of transcription from RNA polymerase II promoterGO:00063579.2CBFB, RUNX2, RUNX3, TCF7
26regulation of cell proliferationGO:00421279.1FGFR1, SHH, TCF7
27transcription from RNA polymerase II promoterGO:00063669.1CBFB, MSX2, RUNX2, RUNX3
28negative regulation of transcription from RNA polymerase II promoterGO:00001228.1FGFR1, MSX2, RUNX3, SHH, TCF7

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

idNameGO IDScoreTop Affiliating Genes
1transcription cofactor activityGO:000371210.1CBFB, MSX2
2transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012279.8MSX2, TCF7
3transcription regulatory region DNA bindingGO:00442129.4MSX2, RUNX2, TCF7
4transcription factor activity, sequence-specific DNA bindingGO:00037008.9CBFB, RUNX2, RUNX3, TCF7

Sources for Cleidocranial Dysplasia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet