CLCD
MCID: CLD001
MIFTS: 78

Cleidocranial Dysplasia (CLCD) malady

Bone diseases, Fetal diseases categories

Summaries for Cleidocranial Dysplasia

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to hypophosphatasia and ischemia, and has symptoms including sloping forehead, large fontanelle/delayed fontanelle closure and supernumerary teeth/polyodontia. 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 Regulation of nuclear SMAD2/3 signaling. The compounds cycloheximide and fibroin have been mentioned in the context of this disorder. Affiliated tissues include skull, clavicle and bone, and related mouse phenotypes are limbs/digits/tail and respiratory system.

Disease Ontology:8 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: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.

Wikipedia:63 Cleidocranial dysostosis, also called Cleidocranial dysplasia or Mutational dysostosis, is a hereditary... more...

Description from OMIM:46 119600,216330

GeneReviews summary for ccd

Aliases & Classifications for Cleidocranial Dysplasia

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
cleidocranial dysplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

cleidocranial dysplasia 8 9 19 42 21 46 10 44 48 60
cleidocranial dysostosis 19 42 22 21 48
dysplasia cleidocranial 42 20
marie-sainton disease 8 42
marie-sainton syndrome 21
clcd 42


External Ids:

Disease Ontology8 DOID:13994
NCIt39 C75020
SNOMED-CT56 65976001, 240193006
MESH via Orphanet35 D002973
ICD10 via Orphanet26 Q74.0
SNOMED-CT via Orphanet57 65976001
UMLS via Orphanet61 C0008928

Related Diseases for Cleidocranial Dysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Cleidocranial Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatasia30.4ALPL
2ischemia30.4VEGFB
3osteogenesis imperfecta30.2ALPL, BGLAP
4osteosclerosis30.2ALPL, BMP2
5myeloid leukemia30.1CBFB, RUNX1
6cleft lip30.1TGFA, SHH
7leukemia30.0RUNX3, RUNX2, RUNX1, BMP2, VEGFB, CBFB
8yunis varon syndrome10.3
9parietal foramina with cleidocranial dysplasia10.3
10cleidocranial dysplasia recessive form10.2
11cleidocranial dysplasia, forme fruste, with brachydactyly10.2
12cleidocranial dysplasia, forme fruste, dental anomalies only10.2
13sensorineural hearing loss10.1
14osteopetrosis10.1
15hypogonadotropism10.1
16pycnodysostosis10.1
17hypogonadism10.1
18intellectual disability10.1
19periodontitis10.1
20syringomyelia10.1
21von willebrand's disease10.1
22congenital hypothyroidism10.1
23newborn respiratory distress syndrome10.1
24beta thalassemia10.1
25acute myeloid leukemia10.1
26acute leukemia10.1
27holoprosencephaly10.1
28dysostosis10.1
29hypothyroidism10.1
30metaphyseal dysplasia10.1
31ovarian disease10.1
32psoriasis10.1
33thalassemia10.1
34pancreatitis10.0ALPL
35hyperostosis10.0BGLAP
36gingivitis10.0MMP13
37inflammatory bowel disease10.0ALPL
38parathyroid adenoma10.0ALPL
39galactosemia10.0ALPL
40brachydactyly10.0RUNX2
41basal cell carcinoma10.0SHH
42acrocephalosyndactylia10.0MSX2
43saethre-chotzen syndrome10.0MSX2, BGLAP
44hyperparathyroidism10.0ALPL, BGLAP
45fibrodysplasia ossificans progressiva10.0BMP2
46renal dysplasia10.0BMP2
47synostosis10.0MSX2, SHH
48short stature10.0BGLAP, COL10A1
49osteitis fibrosa10.0ALPL, BGLAP
50skeletal dysplasias10.0MMP13, RUNX2, COL10A1

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



Diseases related to cleidocranial dysplasia

Clinical Features for Cleidocranial Dysplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

119600,216330

Clinical synopsis from OMIM:

119600

Symptoms:

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

Drugs & Therapeutics for Cleidocranial Dysplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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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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32MalaCards, 14FMA
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MalaCards organs/tissues related to Cleidocranial Dysplasia:

32
Bone, Myeloid, Uterus, Kidney, B cells

FMA organs/tissues related to Cleidocranial Dysplasia:

14
Skull, Clavicle

Animal Models for Cleidocranial Dysplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cleidocranial Dysplasia:

36 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.1COL10A1, CBFB, MSX2
2MP:00053889.6ALPL, CBFB, RUNX2, RUNX3
3MP:00053799.4RUNX3, RUNX2, MSX2, SMAD3, ALPL
4MP:00053919.1RUNX2, VEGFB, MSX2, TGFA
5MP:00053698.9RUNX3, RUNX2, SHH, MSX2, ALPL, TGFA
6MP:00107718.8RUNX3, RUNX1, MMP13, MSX2, SMAD3, TGFA
7MP:00030128.4RUNX3, RUNX2, RUNX1, FZR1, SHH, CBFB
8MP:00020068.3RUNX1, FZR1, SHH, CBFB, SMAD1, SMAD3
9MP:00053898.1RUNX2, BMP2, VEGFB, TCTE1, SMAD1, SMAD3
10MP:00053828.0COL10A1, RUNX2, BMP2, SHH, CBFB, MSX2
11MP:00053818.0RUNX3, RUNX2, BMP2, SHH, CBFB, MSX2
12MP:00053807.9RUNX1, BMP2, FZR1, SHH, CBFB, MSX2
13MP:00036317.9COL10A1, RUNX1, BMP2, FZR1, VEGFB, CBFB
14MP:00053977.9COL10A1, RUNX3, RUNX2, RUNX1, FZR1, SHH
15MP:00053877.8RUNX1, RUNX2, RUNX3, COL10A1, SHH, CBFB
16MP:00053867.5COL10A1, RUNX3, RUNX1, FZR1, SHH, VEGFB
17MP:00053847.3BMP2, RUNX1, RUNX2, RUNX3, COL10A1, FZR1
18MP:00053907.1TGFA, COL10A1, RUNX3, RUNX2, RUNX1, BMP2
19MP:00053767.0RUNX3, RUNX2, RUNX1, BMP2, FZR1, SHH
20MP:00107686.9BMP2, RUNX1, RUNX2, RUNX3, COL10A1, FZR1
21MP:00053856.6SHH, FZR1, BMP2, RUNX1, RUNX2, VEGFB
22MP:00053786.6FZR1, BMP2, RUNX1, RUNX2, RUNX3, COL10A1

Publications for Cleidocranial Dysplasia

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50PubMed
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Articles related to Cleidocranial Dysplasia:

(show top 50)    (show all 226)
idTitleAuthorsYear
1
A novel in-frame deletion of the RUNX2 gene causes a classic form of cleidocranial dysplasia. (23558979)
2014
2
Cleidocranial dysplasia with hearing loss. (23633875)
2013
3
RUNX2 gene status in a cleidocranial dysplasia patient without supernumerary teeth. (23188595)
2013
4
Clinical spectrum of cleidocranial dysplasia in a family with twins. (23782374)
2013
5
Tooth eruption: altered gene expression in the dental follicle of patients with cleidocranial dysplasia. (23311656)
2013
6
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
7
Treatment of a patient with cleidocranial dysplasia using a single-stage implant protocol. (22003879)
2011
8
Effect of strontium on human Runx2+/- osteoblasts from a patient with cleidocranial dysplasia. (21236248)
2011
9
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia. (21734816)
2011
10
RUNX2 mutations in cleidocranial dysplasia patients. (19744171)
2010
11
Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia. (20702542)
2010
12
A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. (20082269)
2010
13
Cleidocranial dysplasia: etiology and stomatognathic and craniofacial abnormalities. (20357738)
2010
14
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. (20648631)
2010
15
Cleidocranial dysplasia: report of 3 cases and literature review. (18832541)
2009
16
Cleidocranial dysplasia: a case report. (18408272)
2008
17
Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia. (18696259)
2008
18
Cleidocranial dysplasia. (18285740)
2008
19
Mutations in the RUNX2 gene in Chinese patients with cleidocranial dysplasia. (18316777)
2008
20
Cleidocranial dysplasia in a young girl. (18940133)
2008
21
Titanium screw anchorage for traction of many impacted teeth in a patient with cleidocranial dysplasia. (17482089)
2007
22
Cleidocranial dysplasia - review with an emphasis on otological and audiological manifestations. (17239447)
2007
23
Cleidocranial dysplasia--a late diagnosis. (16756237)
2006
24
Gene mutation detection in a cleidocranial dysplasia family]. (16329826)
2005
25
Cleidocranial dysplasia with new additional findings. (15287425)
2004
26
Bone scintigraphy in cleidocranial dysplasia. (14688607)
2004
27
Second-trimester nasal bone hypoplasia/aplasia associated with cleidocranial dysplasia. (15164420)
2004
28
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. (14571277)
2003
29
Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip. (11459326)
2001
30
Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia. (11768584)
2001
31
RUNX genes, neoplasia, and cleidocranial dysplasia. (11754042)
2001
32
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. (10980549)
2000
33
The 'chef's hat' appearance of the femoral head in cleidocranial dysplasia. (10813178)
2000
34
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. (10521292)
1999
35
Anomalies of craniofacial skeleton and teeth in cleidocranial dysplasia. (10416150)
1999
36
Delayed dental maturation in cleidocranial dysplasia. (9795736)
1998
37
Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism? (9098480)
1997
38
Cleidocranial dysplasia: Part 1--General principles of the orthodontic and surgical treatment modality. (9009920)
1997
39
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. (9182765)
1997
40
Multiple supernumerary teeth in association with cleidocranial dysplasia. (9161213)
1996
41
Cleidocranial dysplasia. (8613321)
1995
42
Craniofacial growth in cleidocranial dysplasia--a roentgencephalometric study. (7601912)
1995
43
Craniofacial abnormalities in 52 school-age and adult patients with cleidocranial dysplasia. (8325973)
1993
44
Abnormal ossification of the hyoid bone in cleidocranial dysplasia. (8348356)
1993
45
Dental treatment strategies in cleidocranial dysplasia. (1554531)
1992
46
Development of the dentition in cleidocranial dysplasia. (2341976)
1990
47
Cleidocranial dysplasia in the South Western Cape: preliminary report. (3272970)
1988
48
Animal model: skeletal anomalies in mice with cleidocranial dysplasia. (3605208)
1987
49
Cleidocranial dysplasia. A family study. (455907)
1979
50
Cleidocranial dysplasia. (4461089)
1974

Genetic Variations for Cleidocranial Dysplasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cleidocranial Dysplasia:

62 (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

Expression for genes affiliated with Cleidocranial Dysplasia

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1BioGPS, 15Gene 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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37NCBI BioSystems Database, 53Reactome, 4Cell Signaling Technology, 12EMD Millipore, 29KEGG, 52R&D Systems
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Compounds for genes affiliated with Cleidocranial Dysplasia

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Cleidocranial Dysplasia according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.4RUNX2
2fibroin4410.3BMP2, RUNX2
3polycaprolactone4410.2RUNX2, BMP2
4alizarin red s4410.1BMP2, BGLAP
5tio24410.0BGLAP, BMP2
6titanium449.9BMP2, RUNX2, BGLAP
7alginate449.8MMP13, BMP2, BGLAP
8polyglycolic acid449.7BMP2, BGLAP
9alizarin449.7ALPL, BMP2, RUNX2, BGLAP
10heparin44 28 11 2412.7BGLAP, BMP2, MMP13
11alendronate44 49 1111.7MMP13, BMP2, RUNX2, BGLAP
121,25 dihydroxy vitamin d3449.5BGLAP, RUNX2, BMP2, SMAD3
13raloxifene44 28 49 1112.5TGFA, BMP2, BGLAP
14tetracycline44 1110.5BGLAP, BMP2, MMP13
15hydroxyapatite449.5BGLAP, RUNX2, BMP2, MMP13, ALPL
16ribonucleic acid449.3RUNX2, BMP2, MMP13, TGFA
17sb 20358044 5910.3SMAD3, MMP13, BMP2, RUNX2, BGLAP
18matrigel449.2TGFA, SMAD3, MMP13, BMP2
19tgf beta1449.2RUNX2, BMP2, MMP13, SMAD3, TGFA
20dihydrotestosterone44 28 11 2412.2BGLAP, BMP2, SMAD3, TGFA
21prednisolone44 28 1111.1MMP13, RUNX1, BGLAP
22azathioprine44 49 2 1112.1TGFA, BMP2, BGLAP
23ascorbic acid44 2410.1BGLAP, RUNX2, BMP2, MMP13, TGFA
24butyrate449.1TGFA, SMAD3, RUNX1, RUNX2
25thymidine44 2410.0TGFA, SMAD3, MMP13, BMP2, RUNX2
26pd 98,059448.9RUNX2, BMP2, MMP13, SMAD1, SMAD3, TGFA
27vitamin d448.8BGLAP, RUNX2, BMP2, SMAD3, ALPL, TGFA
28tyrosine448.8RUNX1, BMP2, VEGFB, SMAD1, TGFA
29serine448.6BGLAP, RUNX3, RUNX2, BMP2, FZR1, MMP13
30retinoic acid44 249.3BGLAP, RUNX3, RUNX2, RUNX1, BMP2, MMP13
31oligonucleotide448.2RUNX3, RUNX2, RUNX1, BMP2, MMP13, MSX2
32vegf447.7BGLAP, RUNX3, RUNX2, RUNX1, BMP2, VEGFB

GO Terms for genes affiliated with Cleidocranial Dysplasia

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16Gene Ontology
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Cellular components related to Cleidocranial Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.4SMAD3, SMAD1, MSX2, RUNX2
2extracellular spaceGO:0056157.9TGFA, BGLAP, BMP2, SHH, VEGFB, MMP13
3nucleusGO:0056345.5RUNX3, RUNX2, RUNX1, FZR1, SHH, NFYB

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

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1osteoblast fate commitmentGO:00205110.3RUNX2, SMAD1
2regulation of odontogenesis of dentin-containing toothGO:04248710.3RUNX2, BMP2
3telencephalon regionalizationGO:02197810.2BMP2, SHH
4chondrocyte developmentGO:00206310.2RUNX2, MSX2
5cell maturationGO:04846910.2CBFB, RUNX2, RUNX3
6embryonic forelimb morphogenesisGO:03511510.2MSX2, SHH, RUNX2
7primary miRNA processingGO:03105310.2SMAD1, SMAD3
8SMAD protein complex assemblyGO:00718310.1SMAD3, SMAD1
9peripheral nervous system neuron developmentGO:04893510.1RUNX3, RUNX1
10positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:190152210.1SMAD1, BMP2, RUNX2
11pericardium developmentGO:06003910.1BMP2, SMAD3
12positive regulation of cartilage developmentGO:06103610.1BMP2, SMAD1
13cellular response to BMP stimulusGO:07177310.1RUNX2, BMP2, SMAD1
14embryonic foregut morphogenesisGO:04861710.0SHH, SMAD3
15BMP signaling pathwayGO:03050910.0SMAD1, BMP2, RUNX2
16odontogenesis of dentin-containing toothGO:04247510.0SHH, BMP2, RUNX2
17hair follicle morphogenesisGO:03106910.0RUNX3, RUNX1, SHH
18response to vitamin DGO:03328010.0ALPL, BGLAP
19definitive hemopoiesisGO:06021610.0CBFB, RUNX1
20positive regulation of chondrocyte differentiationGO:0323329.9RUNX2, SMAD3
21embryonic pattern specificationGO:0098809.9SMAD3, SMAD1, SHH
22lens fiber cell differentiationGO:0703069.9FZR1, SMAD3
23positive regulation of osteoblast differentiationGO:0456699.9SMAD1, MSX2, BMP2, RUNX2
24bone mineralizationGO:0302829.9BGLAP, BMP2, MMP13
25thyroid gland developmentGO:0308789.8SMAD3, SHH
26hindbrain developmentGO:0309029.8SMAD1, SHH
27wound healingGO:0420609.6TGFA, SMAD3, SMAD1
28myeloid cell differentiationGO:0300999.6CBFB, RUNX1
29positive regulation of cell divisionGO:0517819.6TGFA, VEGFB, SHH
30osteoblast differentiationGO:0016499.5BGLAP, RUNX2, BMP2, CBFB, MSX2
31osteoblast developmentGO:0020769.5SMAD3, MSX2, SHH, RUNX2, BGLAP
32negative regulation of transcription from RNA polymerase II promoterGO:0001229.4RUNX3, BMP2, SHH, MSX2, SMAD3
33skeletal system developmentGO:0015019.3COL10A1, BGLAP, RUNX1, BMP2, ALPL
34response to drugGO:0424939.0BGLAP, VEGFB, SMAD1, TGFA
35positive regulation of transcription from RNA polymerase II promoterGO:0459449.0RUNX1, BMP2, SHH, CBFB, SMAD1, SMAD3
36positive regulation of transcription, DNA-dependentGO:0458938.7RUNX2, RUNX1, BMP2, SHH, NFYB, SMAD3

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activityGO:0306189.7SMAD1, SMAD3
2co-SMAD bindingGO:0704109.5SMAD3, SMAD1
3repressing transcription factor bindingGO:0704919.4NFYB, RUNX1, RUNX2
4protein heterodimerization activityGO:0469828.7NFYB, VEGFB, BMP2, RUNX1
5sequence-specific DNA binding transcription factor activityGO:0037008.3RUNX3, RUNX2, RUNX1, NFYB, CBFB, SMAD1
6protein bindingGO:0055155.9RUNX3, RUNX2, RUNX1, BMP2, FZR1, SHH

Products for genes affiliated with Cleidocranial Dysplasia

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Cleidocranial Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet