CLCD
MCID: CLD001
MIFTS: 77

Cleidocranial Dysplasia (CLCD) malady

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

Summaries for Cleidocranial Dysplasia

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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: Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to hypophosphatasia and osteosclerosis, and has symptoms including apnea/sleep apnea, scoliosis and cleft palate without cleft lip/submucosal cleft palate/bifid uvula. 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:9 An osteochondrodysplasia that has material basis in mutations in the runx2 gene which results in underveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull.

Genetics Home Reference:22 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.

Wikipedia:66 Cleidocranial dysostosis, also called Cleidocranial dysplasia or Mutational dysostosis, is a hereditary... more...

Description from OMIM:48 119600,216330

GeneReviews summary for ccd

Aliases & Classifications for Cleidocranial Dysplasia

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 23GTR, 21GeneTests, 59SNOMED-CT, 36MeSH, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
cleidocranial dysplasia:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

cleidocranial dysplasia 9 10 20 44 22 48 11 46 50 63
cleidocranial dysostosis 20 44 23 22 50
dysplasia cleidocranial 44 21
marie-sainton disease 9 44
marie-sainton syndrome 22
clcd 44


External Ids:

Disease Ontology9 DOID:13994
NCIt41 C75020
SNOMED-CT59 240193006, 65976001
MESH via Orphanet37 D002973
ICD10 via Orphanet27 Q74.0
SNOMED-CT via Orphanet60 65976001
UMLS via Orphanet64 C0008928

Related Diseases for Cleidocranial Dysplasia

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18GeneCards, 19GeneDecks
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Diseases related to Cleidocranial Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatasia30.7ALPL
2osteosclerosis30.4ALPL, BMP2
3osteogenesis imperfecta30.4ALPL, BGLAP
4metaphyseal dysplasia30.3COL10A1
5osteopetrosis30.3RUNX2, BGLAP
6myeloid leukemia30.3CBFB, RUNX1
7leukemia29.9RUNX3, RUNX1, RUNX2, SMAD3, VEGFB, CBFB
8parietal foramina with cleidocranial dysplasia10.4
9yunis varon syndrome10.3
10limb ischemia10.3
11ischemia10.3
12cleidocranial dysplasia recessive form10.3
13cleidocranial dysplasia, forme fruste, with brachydactyly10.3
14cleidocranial dysplasia, forme fruste, dental anomalies only10.3
15hypogonadotropism10.2
16sensorineural hearing loss10.2
17pycnodysostosis10.2
18hypogonadism10.2
19intellectual disability10.2
20periodontitis10.2
21paget's disease of bone10.1ALPL
22syringomyelia10.1
23cleft lip10.1
24holoprosencephaly10.1
25von willebrand's disease10.1
26congenital hypothyroidism10.1
27beta thalassemia10.1
28acute myeloid leukemia10.1
29dysostosis10.1
30hypothyroidism10.1
31ovarian disease10.1
32psoriasis10.1
33thalassemia10.1
34spondylo-megaepiphyseal-metaphyseal dysplasia10.1
35short stature10.1
36atlantoaxial subluxation10.1
37schizencephaly10.1SHH
38saethre-chotzen syndrome10.1BGLAP, MSX2
39renal dysplasia10.1BMP2
40osteitis fibrosa10.1ALPL, BGLAP
41osteomyelitis10.1BMP2
42renal osteodystrophy10.1ALPL, BGLAP
43hypophosphatemia10.1ALPL, BGLAP
44synostosis10.1SHH, MSX2
45acute myelomonocytic leukemia10.1RUNX1, CBFB
46osteomalacia10.1ALPL, BGLAP
47skeletal dysplasias10.1RUNX2, MMP13, COL10A1
48fibrous dysplasia10.1RUNX2, BGLAP, MSX2, ALPL
49hyperphosphatemia10.0ALPL, BMP2, RUNX2
50progressive osseous heteroplasia10.0RUNX2, BGLAP, BMP2

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



Diseases related to cleidocranial dysplasia

Symptoms for Cleidocranial Dysplasia

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

119600

Clinical features from OMIM:

119600,216330

Symptoms:

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

Drugs & Therapeutics for Cleidocranial Dysplasia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Cleidocranial Dysplasia

Drug clinical trials:

Search ClinicalTrials for Cleidocranial Dysplasia

Search NIH Clinical Center for Cleidocranial Dysplasia

Search CenterWatch for Cleidocranial Dysplasia

Genetic Tests for Cleidocranial Dysplasia

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21GeneTests, 23GTR
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Genetic tests related to Cleidocranial Dysplasia:

id Genetic test Affiliating Genes
1 Cleidocranial Dysplasia21 RUNX2
2 Cleidocranial Dysostosis23

Anatomical Context for Cleidocranial Dysplasia

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34MalaCards, 15FMA
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MalaCards organs/tissues related to Cleidocranial Dysplasia:

34
Bone, Myeloid, Uterus, Kidney, B cells

FMA organs/tissues related to Cleidocranial Dysplasia:

15
Clavicle, Skull

Animal Models for Cleidocranial Dysplasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Cleidocranial Dysplasia:

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

Publications for Cleidocranial Dysplasia

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53PubMed
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Articles related to Cleidocranial Dysplasia:

(show top 50)    (show all 226)
idTitleAuthorsYear
1
RUNX2 mutations in cleidocranial dysplasia. (24222232)
2013
2
Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience. (23102800)
2013
3
Cleidocranial dysplasia syndrome: clinical characteristics and mutation study of a Chinese family. (24260595)
2013
4
Novel RUNX2 frameshift mutations in Chinese patients with cleidocranial dysplasia. (23659235)
2013
5
Cleidocranial dysplasia: oral features and genetic analysis of 11 patients. (22023169)
2012
6
One in 10 million: a case of cleidocranial dysplasia and acute lymphoblastic leukaemia--more than just a coincidence? (22569278)
2012
7
A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia. (21466863)
2011
8
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
9
Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia. (21040462)
2010
10
RUNX2 mutations in cleidocranial dysplasia patients. (19744171)
2010
11
Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia. (20702542)
2010
12
Anesthetic management of a patient with cleidocranial dysplasia undergoing various obstetric procedures. (19945847)
2010
13
A family with cleidocranial dysplasia and crossed ectopic kidney in one child. (19774820)
2009
14
Multiple unerupted teeth. Cleidocranial dysplasia. (19284203)
2008
15
Cleidocranial dysplasia: a case report. (18408272)
2008
16
A novel RUNX2 mutation in cleidocranial dysplasia patients. (18777095)
2008
17
The presence of germ line mosaicism in cleidocranial dysplasia. (17539909)
2007
18
A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia. (17522365)
2007
19
Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. (16270353)
2006
20
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations. (16463420)
2006
21
Morphologic characteristics of masseter muscle in cleidocranial dysplasia: a report of 3 cases. (15660090)
2005
22
Dysregulation of chondrogenesis in human cleidocranial dysplasia. (15952089)
2005
23
Cleidocranial dysplasia with new additional findings. (15287425)
2004
24
Early craniofacial signs of cleidocranial dysplasia. (14706028)
2004
25
Treatment of a patient with cleidocranial dysplasia using osseointegrated implants: a patient report. (15101601)
2004
26
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. (14571277)
2003
27
General practitioner's radiology case 4. Cleidocranial dysplasia. (12428530)
2002
28
Oral pathology quiz #3. Cleidocranial dysplasia. (11889933)
2002
29
Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip. (11459326)
2001
30
Cleidocranial dysplasia. (11832626)
2001
31
A RUNX2/PEBP2alphaA/CBFA1 mutation in cleidocranial dysplasia revealing the link between the gene and Smad. (11368305)
2001
32
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. (10980549)
2000
33
A stop codon mutation in the CBFA 1 gene causes cleidocranial dysplasia. (11083386)
2000
34
Cleidocranial dysplasia: modern concepts of treatment and a report of an orthodontic resistant case requiring a restorative solution. (10765791)
1999
35
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. (10521292)
1999
36
Anomalies of craniofacial skeleton and teeth in cleidocranial dysplasia. (10416150)
1999
37
Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review. (10463294)
1998
38
Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice. (9286593)
1997
39
Multiple supernumerary teeth in association with cleidocranial dysplasia. (9161213)
1996
40
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. (7717404)
1995
41
Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. (8533817)
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cleidocranial Dysplasia:

65 (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:

1 (show all 12)
id Gene Name 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cleidocranial Dysplasia

Search GEO for disease gene expression data for Cleidocranial Dysplasia.

Pathways for genes affiliated with Cleidocranial Dysplasia

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Sources:
51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 56Reactome, 5Cell Signaling Technology, 31KEGG, 58SinoBiological, 55R&D Systems, 54QIAGEN
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Pathways related to Cleidocranial Dysplasia according to GeneCards/GeneDecks:

(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 signaling39
BMP signalling and regulation39
BMP Signalling Pathway39
9.4BMP2, SMAD1, RUNX2
59.4SMAD3, MMP13, ALPL
69.3SMAD3, SMAD1, RUNX3
79.3MMP13, SHH, BGLAP, RUNX2
89.2RUNX1, RUNX2, SMAD1
99.2SMAD3, BMP2, COL10A1
109.1BMP2, SMAD3, SMAD1
119.1BMP2, SMAD3, SMAD1
12
Show member pathways
9.1SMAD1, SMAD3, BMP2
139.1SMAD1, SMAD3, BMP2
149.1ALPL, COL10A1, MMP13, RUNX2, RUNX3
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
198.4RUNX3, RUNX1, RUNX2, SMAD1, SMAD3
208.4SMAD1, VEGFB, SHH, BMP2
21
Show member pathways
8.4COL10A1, BMP2, TGFA, VEGFB
22
Show member pathways
8.3VEGFB, TGFA, MMP13, BMP2
237.2RUNX1, SMAD3, VEGFB, SHH, TGFA, BMP2

Compounds for genes affiliated with Cleidocranial Dysplasia

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46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 3BitterDB, 62Tocris Bioscience, 25HMDB
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Compounds related to Cleidocranial Dysplasia according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1fibroin4610.1BMP2, RUNX2
2polycaprolactone4610.1RUNX2, BMP2
3alizarin red s4610.1BMP2, BGLAP
4clodronate46 52 1212.1MMP13, BGLAP
5tio24610.1BGLAP, BMP2
6polyglycolic acid4610.0BGLAP, BMP2
7chitosan469.9BMP2, BGLAP
8titanium469.9BMP2, BGLAP, RUNX2
9cyproteroneacetate469.8BGLAP, TGFA
10alginate469.8BMP2, MMP13, BGLAP
11zoledronic acid469.7BGLAP, BMP2
12alizarin469.7RUNX2, BGLAP, BMP2, ALPL
13tetracycline46 1210.7BGLAP, MMP13, BMP2
14alendronate46 52 1211.6RUNX2, BGLAP, MMP13, BMP2
15raloxifene46 52 30 1212.6BMP2, TGFA, BGLAP
16azathioprine46 3 52 1212.5BMP2, TGFA, BGLAP
17prednisolone46 30 1211.5MMP13, BGLAP, RUNX1
181,25 dihydroxy vitamin d3469.4RUNX2, BGLAP, SMAD3, BMP2
19calcitriol46 62 25 1212.4BMP2, TGFA, BGLAP
20retinoid469.4BMP2, MMP13, RUNX2
21hydroxyapatite469.4ALPL, BMP2, MMP13, BGLAP, RUNX2
22ribonucleic acid469.3RUNX2, TGFA, MMP13, BMP2
23gnrh469.3BGLAP, SMAD3, TGFA
24dihydrotestosterone46 30 25 1212.1BGLAP, SMAD3, TGFA, BMP2
25procollagen469.1RUNX2, BGLAP, SMAD3, MMP13, BMP2
26ascorbic acid46 2510.1BMP2, MMP13, TGFA, BGLAP, RUNX2
27sb 20358046 6210.1RUNX2, BGLAP, SMAD3, MMP13, BMP2
28pge2469.0RUNX2, BGLAP, TGFA, MMP13, BMP2
29matrigel469.0SMAD3, TGFA, MMP13, BMP2
30butyrate468.9TGFA, SMAD3, RUNX2, RUNX1
31cysteine468.9BGLAP, TGFA, MMP13, BMP2, ALPL
32tgf beta1468.8RUNX2, SMAD3, TGFA, MMP13, BMP2
33etoposide46 52 62 1211.8TGFA, SMAD3, RUNX1
34thymidine46 259.8RUNX2, SMAD3, TGFA, MMP13, BMP2
35cycloheximide468.8RUNX2, SMAD3, TGFA, MMP13, BMP2
36testosterone46 62 25 1211.8BMP2, TGFA, SMAD3, BGLAP
37alanine468.8RUNX2, BGLAP, SMAD3, TGFA, BMP2
38steroid468.7RUNX2, TGFA, MSX2, BMP2
39vitamin d468.7RUNX2, BGLAP, SMAD3, TGFA, BMP2, ALPL
40estrogen468.5RUNX2, BGLAP, SMAD3, TGFA, MMP13, BMP2
41pd 98,059468.4RUNX2, SMAD1, SMAD3, TGFA, MMP13, BMP2
42heparin46 30 25 1211.4BGLAP, VEGFB, TGFA, MMP13, BMP2
43retinoic acid46 258.9RUNX3, RUNX1, RUNX2, BGLAP, TGFA, MMP13
44oligonucleotide467.5ALPL, RUNX3, RUNX1, RUNX2, SMAD3, TGFA
45serine467.3RUNX3, RUNX1, RUNX2, BGLAP, SMAD1, SMAD3
46tyrosine467.0RUNX1, RUNX2, SMAD1, SMAD3, VEGFB, TGFA
47vegf466.9RUNX3, RUNX1, RUNX2, BGLAP, SMAD3, VEGFB

GO Terms for genes affiliated with Cleidocranial Dysplasia

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Sources:
17Gene Ontology
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Cellular components related to Cleidocranial Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear inner membraneGO:0056379.5SMAD1, SMAD3
2transcription factor complexGO:0056679.0SMAD1, SMAD3, MSX2, RUNX2
3extracellular spaceGO:0056157.4ALPL, BGLAP, VEGFB, SHH, TGFA, MMP13
4nucleusGO:0056346.8SHH, MSX2, CBFB, TGFA, SMAD3, RUNX3

Biological processes related to Cleidocranial Dysplasia according to GeneCards/GeneDecks:

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1chondrocyte developmentGO:00206310.4RUNX2, MSX2
2response to vitamin DGO:03328010.3ALPL, BGLAP
3osteoblast fate commitmentGO:00205110.3RUNX2, SMAD1
4regulation of odontogenesis of dentin-containing toothGO:04248710.2RUNX2, BMP2
5cell maturationGO:04846910.2CBFB, RUNX2, RUNX3
6endochondral ossificationGO:00195810.1ALPL, COL10A1, RUNX2
7embryonic forelimb morphogenesisGO:03511510.1RUNX2, SHH, MSX2
8telencephalon regionalizationGO:02197810.1SHH, BMP2
9embryonic hindlimb morphogenesisGO:03511610.0SHH, MSX2
10positive regulation of chondrocyte differentiationGO:03233210.0RUNX2, SMAD3
11hindbrain developmentGO:03090210.0SHH, SMAD1
12signal transduction involved in regulation of gene expressionGO:02301910.0SMAD3, MSX2
13positive regulation of cartilage developmentGO:06103610.0BMP2, SMAD1
14peripheral nervous system neuron developmentGO:0489359.9RUNX3, RUNX1
15definitive hemopoiesisGO:0602169.9CBFB, RUNX1
16embryonic cranial skeleton morphogenesisGO:0487019.9SMAD3, RUNX2
17embryonic foregut morphogenesisGO:0486179.9SHH, SMAD3
18primary miRNA processingGO:0310539.9SMAD3, SMAD1
19SMAD protein complex assemblyGO:0071839.9SMAD3, SMAD1
20myeloid cell differentiationGO:0300999.9RUNX1, CBFB
21positive regulation of Wnt signaling pathwayGO:0301779.9BMP2, SHH
22pericardium developmentGO:0600399.9SMAD3, BMP2
23thyroid gland developmentGO:0308789.9SHH, SMAD3
24positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:19015229.8BMP2, SMAD1, RUNX2
25cellular response to BMP stimulusGO:0717739.8BMP2, SMAD1, RUNX2
26odontogenesis of dentin-containing toothGO:0424759.8RUNX2, SHH, BMP2
27bone mineralizationGO:0302829.8BGLAP, MMP13, BMP2
28cartilage developmentGO:0512169.8SMAD1, MMP13, COL10A1
29BMP signaling pathwayGO:0305099.8BMP2, SMAD1, RUNX2
30cellular response to organic cyclic compoundGO:0714079.8BMP2, ALPL
31midbrain developmentGO:0309019.8SHH, SMAD1
32positive regulation of epithelial to mesenchymal transitionGO:0107189.7BMP2, SMAD3
33bone developmentGO:0603489.7BGLAP, SMAD1
34positive regulation of bone mineralizationGO:0305019.6SMAD3, BMP2
35hair follicle morphogenesisGO:0310699.6SHH, RUNX1, RUNX3
36embryonic pattern specificationGO:0098809.6SMAD1, SMAD3, SHH
37positive regulation of osteoblast differentiationGO:0456699.6RUNX2, SMAD1, MSX2, BMP2
38ureteric bud developmentGO:0016579.5SMAD3, SMAD1
39osteoblast differentiationGO:0016499.5RUNX2, BGLAP, CBFB, MSX2, BMP2
40chondrocyte differentiationGO:0020629.5BMP2, RUNX3
41wound healingGO:0420609.4TGFA, SMAD3, SMAD1
42osteoblast developmentGO:0020769.3MSX2, SHH, SMAD3, BGLAP, RUNX2
43positive regulation of cell divisionGO:0517819.2TGFA, SHH, VEGFB
44negative regulation of transcription from RNA polymerase II promoterGO:0001229.0RUNX3, SMAD3, SHH, MSX2, BMP2
45skeletal system developmentGO:0015019.0RUNX1, BGLAP, BMP2, COL10A1, ALPL
46in utero embryonic developmentGO:0017019.0BMP2, SMAD3, RUNX1
47response to drugGO:0424938.8TGFA, VEGFB, SMAD1, BGLAP
48positive regulation of transcription, DNA-templatedGO:0458938.7RUNX1, RUNX2, SMAD3, SHH, BMP2
49negative regulation of apoptotic processGO:0430668.7MSX2, TGFA, VEGFB, SMAD3
50positive regulation of transcription from RNA polymerase II promoterGO:0459448.3RUNX1, SMAD1, SMAD3, SHH, CBFB, BMP2

Molecular functions related to Cleidocranial Dysplasia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activityGO:0306189.6SMAD3, SMAD1
2co-SMAD bindingGO:0704109.5SMAD3, SMAD1
3repressing transcription factor bindingGO:0704919.3RUNX2, RUNX1
4calcium ion bindingGO:0055098.9MMP13, SHH, BGLAP, RUNX1
5growth factor activityGO:0080838.6VEGFB, TGFA, BMP2
6sequence-specific DNA binding transcription factor activityGO:0037008.3RUNX3, RUNX1, RUNX2, SMAD1, SMAD3, CBFB
7protein bindingGO:0055155.7ALPL, RUNX3, RUNX1, RUNX2, SMAD1, SMAD3

Products for genes affiliated with Cleidocranial Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cleidocranial Dysplasia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet