MCID: CLD001
MIFTS: 70

Cleidocranial Dysplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories

Aliases & Classifications for Cleidocranial Dysplasia

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 27ICD9CM, 39NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Cleidocranial Dysplasia:

Name: Cleidocranial Dysplasia 46 8 9 19 42 21 10 44 48 61
Cleidocranial Dysostosis 8 19 42 21 48 22
Dysplasia Cleidocranial 42 20
Marie-Sainton Disease 8 42
 
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 46
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 46
Marie-Sainton Syndrome 21
Clcd 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

OMIM46 119600
Disease Ontology8 DOID:13994
ICD9CM27 755.59
NCIt39 C75020
SNOMED-CT56 65976001, 240193006
Orphanet48 1452
MESH via Orphanet34 D002973
ICD10 via Orphanet26 Q74.0
UMLS via Orphanet62 C0008928

Summaries for Cleidocranial Dysplasia

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NIH Rare Diseases:42 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 in the runx2 gene. last updated: 12/26/2012

MalaCards based summary: Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to hypophosphatasia and metaphyseal dysplasia, and has symptoms including hypertelorism, micrognathia and abnormality of the clavicles. An important gene associated with Cleidocranial Dysplasia is RUNX2 (runt-related transcription factor 2), and among its related pathways are Interleukin-11 Signaling Pathway and Regulation of nuclear SMAD2/3 signaling. The compounds fibroin and polycaprolactone have been mentioned in the context of this disorder. Affiliated tissues include clavicle, skull and bone, and related mouse phenotypes are no phenotypic analysis and respiratory system.

Disease Ontology:8 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:21 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:46 The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia... (119600) more...

GeneReviews summary for ccd

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 80)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatasia31.3ALPL
2metaphyseal dysplasia30.9COL10A1
3myeloid leukemia30.7CBFB, RUNX1
4osteogenesis imperfecta30.6ALPL, BGLAP
5osteopetrosis30.5RUNX2, BGLAP
6leukemia29.2RUNX3, RUNX1, RUNX2, SMAD3, VEGFB, CBFB
7parietal foramina with cleidocranial dysplasia10.6
8paget disease of bone10.5ALPL
9cleidocranial dysplasia recessive form10.5
10schizencephaly10.4SHH
11yunis-varon syndrome10.4
12saethre-chotzen syndrome10.4BGLAP, MSX2
13renal dysplasia10.4BMP2
14osteitis fibrosa10.4ALPL, BGLAP
15osteomyelitis10.4BMP2
16limb ischemia10.4
17ischemia10.4
18renal osteodystrophy10.3ALPL, BGLAP
19hypophosphatemia10.3ALPL, BGLAP
20marchiafava bignami disease10.3ALPL, BGLAP, RUNX2
21synostosis10.3SHH, MSX2
22acute myelomonocytic leukemia10.3RUNX1, CBFB
23osteomalacia10.3ALPL, BGLAP
24hyperostosis, endosteal10.3ALPL, BMP2
25skeletal dysplasia multi-gene panels10.3RUNX2, MMP13, COL10A1
26fibrous dysplasia10.2RUNX2, BGLAP, MSX2, ALPL
27hyperphosphatemia10.2ALPL, BMP2, RUNX2
28osseous heteroplasia, progressive10.2RUNX2, BGLAP, BMP2
29pycnodysostosis10.2
30hypogonadotropism10.2
31sensorineural hearing loss10.2
32hypogonadism10.2
33periodontitis10.2
34osteonecrosis10.2BGLAP, BMP2, ALPL
35rickets10.2BGLAP, ALPL
36malignant peripheral nerve sheath tumor10.2MMP13, BMP2
37arthropathy10.1ALPL, BMP2, MMP13
38spondylo-megaepiphyseal-metaphyseal dysplasia10.1
39holoprosencephaly10.1
40thalassemia10.1
41syringomyelia10.1
42cleft lip10.1
43von willebrand's disease10.1
44congenital hypothyroidism10.1
45dysostosis10.1
46ehlers-danlos syndrome10.1
47hypothyroidism10.1
48ovarian disease10.1
49psoriasis10.1
50atlantoaxial subluxation10.1

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:

 48 (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 82)
id Description Frequency HPO Source Accession
1 hypertelorism hallmark (90%) HP:0000316
2 micrognathia hallmark (90%) HP:0000347
3 abnormality of the clavicles 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 the epiphyses occasional (7.5%) HP:0005930
34 autosomal dominant inheritance HP:0000006
35 cleft palate HP:0000175
36 narrow palate HP:0000189
37 high palate HP:0000218
38 parietal bossing HP:0000242
39 malar flattening HP:0000272
40 hypertelorism HP:0000316
41 micrognathia HP:0000347
42 hearing impairment HP:0000365
43 delayed eruption of primary teeth HP:0000680
44 delayed eruption of permanent teeth HP:0000696
45 short ribs HP:0000773
46 narrow chest HP:0000774
47 hypoplastic scapulae HP:0000882
48 cervical ribs HP:0000891
49 short clavicles HP:0000894
50 brachydactyly syndrome HP:0001156
51 frontal bossing HP:0002007
52 neonatal respiratory distress HP:0002643
53 wormian bones HP:0002645
54 scoliosis HP:0002650
55 increased susceptibility to fractures HP:0002659
56 thickened calvaria HP:0002684
57 absent frontal sinuses HP:0002688
58 absent paranasal sinuses HP:0002689
59 large foramen magnum HP:0002700
60 hypoplastic frontal sinuses HP:0002738
61 kyphosis HP:0002808
62 coxa vara HP:0002812
63 hypoplastic iliac wings HP:0002866
64 wide pubic symphysis HP:0003183
65 spondylolisthesis HP:0003302
66 spondylolysis HP:0003304
67 syringomyelia HP:0003396
68 short middle phalanx of the 5th finger HP:0004220
69 persistent open anterior fontanelle HP:0004474
70 abnormal facility in opposing the shoulders HP:0005259
71 depressed nasal bridge HP:0005280
72 long second metacarpal HP:0006040
73 hypoplasia of dental enamel HP:0006297
74 aplastic clavicles HP:0006660
75 delayed pubic bone ossification HP:0008788
76 moderately short stature HP:0008848
77 short middle phalanx of the 2nd finger HP:0009577
78 cone-shaped epiphyses of the phalanges of the hand HP:0010230
79 increased bone mineral density HP:0011001
80 increased number of teeth HP:0011069
81 midface retrusion HP:0011800
82 short femoral neck HP:0100864

Drugs & Therapeutics for Cleidocranial Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Cleidocranial Dysplasia

Search NIH Clinical Center for Cleidocranial Dysplasia

Genetic Tests for Cleidocranial Dysplasia

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Genetic tests related to Cleidocranial Dysplasia:

id Genetic test Affiliating Genes
1 Cleidocranial Dysplasia20 RUNX2
2 Cleidocranial Dysostosis22

Anatomical Context for Cleidocranial Dysplasia

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MalaCards organs/tissues related to Cleidocranial Dysplasia:

31
Bone, Kidney, Uterus, Myeloid, B cells

FMA organs/tissues related to Cleidocranial Dysplasia:

14
Clavicle, Skull

Animal Models for Cleidocranial Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Cleidocranial Dysplasia:

35 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.8RUNX3, RUNX1, RUNX2, SHH, CBFB
2MP:00053888.4RUNX1, RUNX2, SHH, CBFB, ALPL, RUNX3
3MP:00053698.2ALPL, RUNX3, RUNX2, SMAD1, SHH, TGFA
4MP:00020068.0RUNX1, SMAD1, SMAD3, SHH, CBFB
5MP:00053797.9SMAD1, RUNX2, SMAD3, SHH, MSX2, TGFA
6MP:00053717.8RUNX2, SMAD3, SHH, MMP13, MSX2, BMP2
7MP:00053917.6SHH, CBFB, MSX2, TGFA, VEGFB, SMAD3
8MP:00053977.6RUNX1, RUNX2, SMAD3, SHH, COL10A1, ALPL
9MP:00053807.5ALPL, BMP2, RUNX1, SMAD1, SMAD3, SHH
10MP:00107717.4RUNX3, RUNX1, RUNX2, SHH, TGFA, MMP13
11MP:00053817.3RUNX3, CBFB, ALPL, RUNX2, SMAD1, SMAD3
12MP:00053827.3ALPL, SHH, TGFA, SMAD3, COL10A1, BMP2
13MP:00053877.1RUNX2, ALPL, COL10A1, RUNX1, MSX2, CBFB
14MP:00053866.9COL10A1, TCTE1, SHH, MSX2, VEGFB, SMAD3
15MP:00053896.8SHH, BMP2, TCTE1, TGFA, SMAD1, SMAD3
16MP:00053846.8COL10A1, SMAD1, RUNX1, RUNX2, SMAD3, SHH
17MP:00053766.2RUNX3, ALPL, BMP2, CBFB, MMP13, SHH
18MP:00053906.1BMP2, CBFB, MMP13, TGFA, SMAD3, SMAD1
19MP:00036316.1RUNX3, CBFB, BMP2, COL10A1, MSX2, SHH
20MP:00053786.0CBFB, RUNX1, SMAD1, BMP2, COL10A1, ALPL
21MP:00107686.0MSX2, ALPL, COL10A1, BMP2, CBFB, SHH
22MP:00053855.8SMAD1, SHH, RUNX1, TGFA, MMP13, CBFB

Publications for Cleidocranial Dysplasia

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Articles related to Cleidocranial Dysplasia:

(show top 50)    (show all 250)
idTitleAuthorsYear
1
Restorative treatment strategies for patients with cleidocranial dysplasia. (25677164)
2015
2
Cleidocranial dysplasia with bilateral posterior glenohumeral dislocation: a case-report. (25592053)
2015
3
Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia. (25755819)
2015
4
Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia. (25209980)
2014
5
Cleidocranial dysplasia: a case report illustrating diagnostic clinical and radiological findings. (25121071)
2014
6
Clinical and Radiological Evaluation of Cleidocranial Dysplasia in Two Trinidadian Siblings. (25781294)
2014
7
RUNX2 mutations in cleidocranial dysplasia. (24222232)
2013
8
Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience. (23102800)
2013
9
Cleidocranial dysplasia syndrome: clinical characteristics and mutation study of a Chinese family. (24260595)
2013
10
Cleidocranial dysplasia: oral features and genetic analysis of 11 patients. (22023169)
2012
11
One in 10 million: a case of cleidocranial dysplasia and acute lymphoblastic leukaemia--more than just a coincidence? (22569278)
2012
12
A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia. (21466863)
2011
13
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
14
Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia. (21040462)
2010
15
RUNX2 mutations in cleidocranial dysplasia patients. (19744171)
2010
16
Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia. (20702542)
2010
17
Anesthetic management of a patient with cleidocranial dysplasia undergoing various obstetric procedures. (19945847)
2010
18
A family with cleidocranial dysplasia and crossed ectopic kidney in one child. (19774820)
2009
19
Multiple unerupted teeth. Cleidocranial dysplasia. (19284203)
2008
20
Cleidocranial dysplasia: a case report. (18408272)
2008
21
A novel RUNX2 mutation in cleidocranial dysplasia patients. (18777095)
2008
22
The presence of germ line mosaicism in cleidocranial dysplasia. (17539909)
2007
23
A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia. (17522365)
2007
24
Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. (16270353)
2006
25
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations. (16463420)
2006
26
Morphologic characteristics of masseter muscle in cleidocranial dysplasia: a report of 3 cases. (15660090)
2005
27
Cleidocranial dysplasia with new additional findings. (15287425)
2004
28
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. (14571277)
2003
29
General practitioner's radiology case 4. Cleidocranial dysplasia. (12428530)
2002
30
Oral pathology quiz #3. Cleidocranial dysplasia. (11889933)
2002
31
Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip. (11459326)
2001
32
Cleidocranial dysplasia. (11832626)
2001
33
A RUNX2/PEBP2alphaA/CBFA1 mutation in cleidocranial dysplasia revealing the link between the gene and Smad. (11368305)
2001
34
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. (10980549)
2000
35
A stop codon mutation in the CBFA 1 gene causes cleidocranial dysplasia. (11083386)
2000
36
Cleidocranial dysplasia: modern concepts of treatment and a report of an orthodontic resistant case requiring a restorative solution. (10765791)
1999
37
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. (10521292)
1999
38
Anomalies of craniofacial skeleton and teeth in cleidocranial dysplasia. (10416150)
1999
39
Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice. (9286593)
1997
40
Multiple supernumerary teeth in association with cleidocranial dysplasia. (9161213)
1996
41
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. (7717404)
1995
42
Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh). (8270769)
1993
43
Cleidocranial Dysplasia (20301686)
1993
44
Craniofacial abnormalities in 52 school-age and adult patients with cleidocranial dysplasia. (8325973)
1993
45
Intrafamilial variability in cleidocranial dysplasia: a three generation family. (1536165)
1992
46
Progressive development of supernumerary teeth in cleidocranial dysplasia. (2775702)
1989
47
Cleidocranial dysplasia?an enigma among anomalies. (18796963)
1988
48
Two siblings with cleidocranial dysplasia associated with atresia ani and psoriasis-like lesions: a new syndrome? (7215385)
1981
49
Cleidocranial dysplasia-treatment of dental problems: report a case. (6946090)
1981
50
Combined surgical and orthodontic management of the oral abnormalities in children with cleidocranial dysplasia. (100437)
1978

Variations for Cleidocranial Dysplasia

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

63 (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 12)
id Gene Variation Type Significance SNP ID Assembly Location
1RUNX2NM_001024630.3(RUNX2): c.1171C> T (p.Arg391Ter)single nucleotide variantPathogenicrs397515537GRCh37Chr 6, 45514647: 45514647
2RUNX2NM_001024630.3(RUNX2): c.90dupC (p.Ser31Leufs)duplicationPathogenicrs397515538GRCh37Chr 6, 45390361: 45390361
3RUNX2RUNX2, 16-BP INSinsertionPathogenic
4RUNX2NM_001024630.3(RUNX2): c.891G> A (p.Trp297Ter)single nucleotide variantPathogenicrs104893988GRCh37Chr 6, 45480014: 45480014
5RUNX2NM_001024630.3(RUNX2): c.524T> G (p.Met175Arg)single nucleotide variantPathogenicrs104893989GRCh37Chr 6, 45399700: 45399700
6RUNX2NM_001024630.3(RUNX2): c.572G> A (p.Ser191Asn)single nucleotide variantPathogenicrs104893990GRCh37Chr 6, 45399748: 45399748
7RUNX2NM_001024630.3(RUNX2): c.674G> A (p.Arg225Gln)single nucleotide variantPathogenicrs104893991GRCh37Chr 6, 45405777: 45405777
8RUNX2NM_001024630.3(RUNX2): c.673C> T (p.Arg225Trp)single nucleotide variantPathogenicrs104893992GRCh37Chr 6, 45405776: 45405776
9RUNX2NM_001024630.3(RUNX2): c.598A> G (p.Thr200Ala)single nucleotide variantPathogenicrs104893993GRCh37Chr 6, 45405701: 45405701
10RUNX2NM_001024630.3(RUNX2): c.1565G> C (p.Ter522Ser)single nucleotide variantPathogenicrs104893994GRCh37Chr 6, 45515041: 45515041
11RUNX2NM_001024630.3(RUNX2): c.506G> C (p.Arg169Pro)single nucleotide variantPathogenicrs104893995GRCh37Chr 6, 45399682: 45399682
12RUNX2RUNX2, 1-BP INS, 1228CinsertionPathogenic

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

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0BGLAP, RUNX2
29.5CBFB, SMAD3, RUNX2
39.5SMAD3, BGLAP, RUNX2
4
Show member pathways
BMP receptor signaling36
BMP signalling and regulation36
BMP Signalling Pathway36
9.4BMP2, RUNX2, SMAD1
59.4SMAD3, MMP13, ALPL
69.3RUNX3, SMAD3, SMAD1
79.3BGLAP, MMP13, SHH, RUNX2
89.2SMAD1, RUNX2, RUNX1
99.2BMP2, SMAD3, COL10A1
109.1BMP2, SMAD3, SMAD1
119.1SMAD3, SMAD1, BMP2
12
Show member pathways
9.1SMAD1, BMP2, SMAD3
139.1BMP2, SMAD1, SMAD3
149.1ALPL, COL10A1, RUNX3, MMP13, RUNX2
159.1SMAD3, SMAD1, RUNX2, RUNX3
169.1RUNX3, RUNX2, SMAD1, SMAD3
17
Show member pathways
8.8TGFA, SMAD3, RUNX1
18
Show member pathways
8.7BMP2, TGFA, VEGFB
198.4SMAD3, SMAD1, RUNX2, RUNX1, RUNX3
208.4BMP2, SHH, VEGFB, SMAD1
21
Show member pathways
8.4VEGFB, TGFA, BMP2, COL10A1
22
Show member pathways
8.3BMP2, MMP13, TGFA, VEGFB
237.2BMP2, TGFA, SHH, VEGFB, RUNX1, SMAD3

Compounds for genes affiliated with Cleidocranial Dysplasia

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

(show all 47)
idCompoundScoreTop Affiliating Genes
1fibroin4410.1BMP2, RUNX2
2polycaprolactone4410.1RUNX2, BMP2
3alizarin red s4410.1BGLAP, BMP2
4clodronate44 50 1112.1BGLAP, MMP13
5tio24410.1BMP2, BGLAP
6polyglycolic acid4410.0BMP2, BGLAP
7chitosan449.9BMP2, BGLAP
8titanium449.9BMP2, RUNX2, BGLAP
9cyproteroneacetate449.8BGLAP, TGFA
10alginate449.8BMP2, BGLAP, MMP13
11zoledronic acid449.7BGLAP, BMP2
12alizarin449.7RUNX2, BGLAP, BMP2, ALPL
13tetracycline44 1110.7BMP2, MMP13, BGLAP
14alendronate44 50 1111.6BGLAP, MMP13, BMP2, RUNX2
15raloxifene44 50 28 1112.6BMP2, TGFA, BGLAP
16azathioprine44 1 50 1112.5TGFA, BMP2, BGLAP
17prednisolone44 28 1111.5BGLAP, MMP13, RUNX1
181,25 dihydroxy vitamin d3449.4BMP2, SMAD3, BGLAP, RUNX2
19calcitriol44 60 24 1112.4TGFA, BGLAP, BMP2
20retinoid449.4BMP2, RUNX2, MMP13
21hydroxyapatite449.4BMP2, ALPL, RUNX2, BGLAP, MMP13
22ribonucleic acid449.3RUNX2, TGFA, MMP13, BMP2
23gnrh449.3BGLAP, SMAD3, TGFA
24dihydrotestosterone44 28 24 1112.1BMP2, SMAD3, BGLAP, TGFA
25procollagen449.1BMP2, RUNX2, BGLAP, SMAD3, MMP13
26ascorbic acid44 2410.1RUNX2, BGLAP, TGFA, MMP13, BMP2
27sb 20358044 6010.1BMP2, MMP13, SMAD3, BGLAP, RUNX2
28pge2449.0BGLAP, RUNX2, BMP2, TGFA, MMP13
29matrigel449.0SMAD3, TGFA, MMP13, BMP2
30butyrate448.9RUNX2, SMAD3, RUNX1, TGFA
31cysteine448.9BMP2, TGFA, BGLAP, MMP13, ALPL
32tgf beta1448.8SMAD3, BMP2, MMP13, TGFA, RUNX2
33etoposide44 50 60 1111.8SMAD3, TGFA, RUNX1
34thymidine44 249.8RUNX2, BMP2, MMP13, TGFA, SMAD3
35cycloheximide448.8BMP2, RUNX2, MMP13, TGFA, SMAD3
36testosterone44 60 24 1111.8BGLAP, BMP2, SMAD3, TGFA
37alanine448.8TGFA, SMAD3, RUNX2, BGLAP, BMP2
38steroid448.7BMP2, TGFA, RUNX2, MSX2
39vitamin d448.7RUNX2, BGLAP, ALPL, SMAD3, TGFA, BMP2
40estrogen448.5MMP13, TGFA, BMP2, BGLAP, RUNX2, SMAD3
41pd 98,059448.4TGFA, SMAD1, RUNX2, BMP2, MMP13, SMAD3
42heparin44 28 24 1111.4MMP13, TGFA, VEGFB, BGLAP, BMP2
43retinoic acid44 248.9TGFA, RUNX3, RUNX1, RUNX2, BGLAP, MMP13
44oligonucleotide447.5BMP2, TGFA, SMAD3, RUNX2, RUNX1, MSX2
45serine447.2BGLAP, RUNX2, RUNX1, RUNX3, SMAD1, SMAD3
46tyrosine447.0RUNX1, RUNX2, VEGFB, TGFA, MMP13, BMP2
47vegf446.9SMAD3, RUNX3, RUNX1, RUNX2, BGLAP, VEGFB

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
1nuclear inner membraneGO:00056379.5SMAD3, SMAD1
2transcription factor complexGO:00056679.0RUNX2, SMAD1, SMAD3, MSX2
3extracellular spaceGO:00056157.4ALPL, BMP2, MMP13, TGFA, SHH, VEGFB
4nucleusGO:00056346.8RUNX3, RUNX1, RUNX2, SMAD1, SMAD3, SHH

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

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1chondrocyte developmentGO:000206310.4MSX2, RUNX2
2response to vitamin DGO:003328010.3BGLAP, ALPL
3osteoblast fate commitmentGO:000205110.3SMAD1, RUNX2
4regulation of odontogenesis of dentin-containing toothGO:004248710.2BMP2, RUNX2
5cell maturationGO:004846910.2RUNX3, RUNX2, CBFB
6endochondral ossificationGO:000195810.1ALPL, RUNX2, COL10A1
7embryonic forelimb morphogenesisGO:003511510.1MSX2, SHH, RUNX2
8telencephalon regionalizationGO:002197810.1SHH, BMP2
9embryonic hindlimb morphogenesisGO:003511610.0MSX2, SHH
10positive regulation of chondrocyte differentiationGO:003233210.0RUNX2, SMAD3
11hindbrain developmentGO:003090210.0SMAD1, SHH
12signal transduction involved in regulation of gene expressionGO:002301910.0SMAD3, MSX2
13positive regulation of cartilage developmentGO:006103610.0BMP2, SMAD1
14peripheral nervous system neuron developmentGO:00489359.9RUNX1, RUNX3
15definitive hemopoiesisGO:00602169.9CBFB, RUNX1
16embryonic cranial skeleton morphogenesisGO:00487019.9RUNX2, SMAD3
17embryonic foregut morphogenesisGO:00486179.9SMAD3, SHH
18primary miRNA processingGO:00310539.9SMAD1, SMAD3
19SMAD protein complex assemblyGO:00071839.9SMAD1, SMAD3
20myeloid cell differentiationGO:00300999.9RUNX1, CBFB
21positive regulation of Wnt signaling pathwayGO:00301779.9SHH, BMP2
22pericardium developmentGO:00600399.9BMP2, SMAD3
23thyroid gland developmentGO:00308789.9SHH, SMAD3
24positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:019015229.8SMAD1, RUNX2, BMP2
25cellular response to BMP stimulusGO:00717739.8SMAD1, BMP2, RUNX2
26odontogenesis of dentin-containing toothGO:00424759.8RUNX2, SHH, BMP2
27bone mineralizationGO:00302829.8MMP13, BMP2, BGLAP
28cartilage developmentGO:00512169.8SMAD1, MMP13, COL10A1
29midbrain developmentGO:00309019.8SMAD1, SHH
30BMP signaling pathwayGO:00305099.8RUNX2, SMAD1, BMP2
31cellular response to organic cyclic compoundGO:00714079.8BMP2, ALPL
32positive regulation of epithelial to mesenchymal transitionGO:00107189.7SMAD3, BMP2
33bone developmentGO:00603489.7BGLAP, SMAD1
34positive regulation of bone mineralizationGO:00305019.6BMP2, SMAD3
35hair follicle morphogenesisGO:00310699.6SHH, RUNX1, RUNX3
36embryonic pattern specificationGO:00098809.6SHH, SMAD3, SMAD1
37positive regulation of osteoblast differentiationGO:00456699.6RUNX2, SMAD1, MSX2, BMP2
38ureteric bud developmentGO:00016579.5SMAD1, SMAD3
39osteoblast differentiationGO:00016499.5BMP2, MSX2, BGLAP, RUNX2, CBFB
40chondrocyte differentiationGO:00020629.5RUNX3, BMP2
41wound healingGO:00420609.4TGFA, SMAD1, SMAD3
42osteoblast developmentGO:00020769.3RUNX2, BGLAP, SMAD3, SHH, MSX2
43positive regulation of cell divisionGO:00517819.2VEGFB, TGFA, SHH
44negative regulation of transcription from RNA polymerase II promoterGO:00001229.0MSX2, SHH, BMP2, SMAD3, RUNX3
45skeletal system developmentGO:00015019.0ALPL, RUNX1, BGLAP, BMP2, COL10A1
46in utero embryonic developmentGO:00017018.9SMAD3, RUNX1, BMP2
47response to drugGO:00424938.8SMAD1, BGLAP, VEGFB, TGFA
48positive regulation of transcription, DNA-templatedGO:00458938.7RUNX2, SMAD3, RUNX1, BMP2, SHH
49negative regulation of apoptotic processGO:00430668.7SMAD3, VEGFB, TGFA, MSX2
50positive regulation of transcription from RNA polymerase II promoterGO:00459448.3CBFB, SMAD1, SMAD3, BMP2, RUNX1, SHH

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activityGO:00306189.6SMAD3, SMAD1
2co-SMAD bindingGO:00704109.5SMAD3, SMAD1
3repressing transcription factor bindingGO:00704919.3RUNX2, RUNX1
4calcium ion bindingGO:00055098.9MMP13, SHH, BGLAP, RUNX1
5growth factor activityGO:00080838.6VEGFB, TGFA, BMP2
6sequence-specific DNA binding transcription factor activityGO:00037008.3RUNX3, RUNX1, RUNX2, SMAD1, SMAD3, CBFB
7protein bindingGO:00055155.7ALPL, RUNX3, RUNX1, RUNX2, SMAD1, SMAD3

Sources for Cleidocranial Dysplasia

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet