CLCD
MCID: CLD001
MIFTS: 68

Cleidocranial Dysplasia (CLCD) malady

Bone, Fetal categories

Summaries for Cleidocranial Dysplasia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 osteogenesis imperfecta, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, frontal bossing/prominent forehead and hypertelorism. 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 kidney, 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:64 Cleidocranial dysostosis, also called Cleidocranial dysplasia or Mutational dysostosis, is a hereditary... more...

Description from OMIM:47 119600,216330

GeneReviews summary for ccd

Aliases & Classifications for Cleidocranial Dysplasia

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 21 47 10 45 49 61
cleidocranial dysostosis 19 43 22 21 49
dysplasia cleidocranial 43 20
marie-sainton disease 8 43
marie-sainton syndrome 21
clcd 43


External Ids:

Disease Ontology8 DOID:13994
NCIt40 C75020
SNOMED-CT57 65976001, 240193006
MESH via Orphanet36 D002973
ICD10 via Orphanet26 Q74.0
SNOMED-CT via Orphanet58 65976001
UMLS via Orphanet62 C0008928

Related Diseases for Cleidocranial Dysplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

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
1hypophosphatasia30.5ALPL
2osteogenesis imperfecta30.2ALPL, BGLAP
3short stature30.1BGLAP, COL10A1
4yunis varon syndrome10.3
5parietal foramina with cleidocranial dysplasia10.3
6cleidocranial dysplasia recessive form10.2
7cleidocranial dysplasia, forme fruste, with brachydactyly10.2
8cleidocranial dysplasia, forme fruste, dental anomalies only10.2
9sensorineural hearing loss10.2
10osteopetrosis10.2
11pycnodysostosis10.2
12micro syndrome10.2
13epilepsy telangiectasia10.2
14prognathism mandibular10.2
15syringomyelia10.1
16congenital hypothyroidism10.1
17newborn respiratory distress syndrome10.1
18beta thalassemia10.1
19acute myeloid leukemia10.1
20n syndrome10.1
21acute leukemia10.1
22holoprosencephaly10.1
23thalassemia10.1
24char syndrome10.1
25neonatal hypothyroidism10.1
26respiratory distress syndrome, infant10.1
27spondylo-megaepiphyseal-metaphyseal dysplasia10.1
28thalassemia minor10.1
29atlantoaxial subluxation10.1
30pancreatitis10.0ALPL
31hyperostosis10.0BGLAP
32gingivitis10.0MMP13
33inflammatory bowel disease10.0ALPL
34parathyroid adenoma10.0ALPL
35galactosemia10.0ALPL
36brachydactyly10.0RUNX2
37basal cell carcinoma10.0SHH
38acrocephalosyndactylia10.0MSX2
39ischemia10.0VEGFB
40saethre-chotzen syndrome10.0BGLAP, MSX2
41hyperparathyroidism10.0BGLAP, ALPL
42fibrodysplasia ossificans progressiva10.0BMP2
43renal dysplasia10.0BMP2
44synostosis10.0SHH, MSX2
45osteitis fibrosa10.0ALPL, BGLAP
46osteosclerosis10.0ALPL, BMP2
47skeletal dysplasias10.0MMP13, RUNX2, COL10A1
48myeloid leukemia10.0RUNX1, CBFB
49fibrous dysplasia10.0RUNX2, MSX2, ALPL, BGLAP
50acute myelomonocytic leukemia10.0CBFB, RUNX1

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



Diseases related to cleidocranial dysplasia

Clinical Features for Cleidocranial Dysplasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

119600,216330

Clinical synopsis from OMIM:

119600

Symptoms:

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

Drugs & Therapeutics for Cleidocranial Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Cleidocranial Dysplasia:

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

Anatomical Context for Cleidocranial Dysplasia

Sources:
14FMA, 33MalaCards
See all sources

MalaCards organs/tissues related to Cleidocranial Dysplasia:

33
Kidney, Uterus, Skeletal muscle, Myeloid, T cells, B lymphoblasts, B cells

FMA organs/tissues related to Cleidocranial Dysplasia:

14
Skull, Clavicle

Animal Models for Cleidocranial Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Cleidocranial Dysplasia:

37 (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

Sources:
51PubMed
See all sources

Articles related to Cleidocranial Dysplasia:

(show top 50)    (show all 226)
idTitleAuthorsYear
1
Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience. (23102800)
2013
2
Cleidocranial dysplasia syndrome: clinical characteristics and mutation study of a Chinese family. (24260595)
2013
3
Cleidocranial dysplasia with hearing loss. (23633875)
2013
4
Hypodontia and delayed dentition as the primary manifestation of cleidocranial dysplasia presenting with a diagnostic dilemma. (23320199)
2012
5
General anesthesia in a patient with cleidocranial dysplasia. (23634574)
2012
6
Advantages of cone beam computed tomography (CBCT) in the orthodontic treatment planning of cleidocranial dysplasia patients: a case report. (21352577)
2011
7
RUNX2 mutations in cleidocranial dysplasia patients. (19744171)
2010
8
Effect of cleidocranial dysplasia-related novel mutation of RUNX2 on characteristics of dental pulp cells and tooth development. (20872798)
2010
9
Cleidocranial dysplasia: etiology and stomatognathic and craniofacial abnormalities. (20357738)
2010
10
Cleidocranial dysplasia: a case report. (21274329)
2010
11
Clinical spectrum of cleidocranial dysplasia: a case report. (19063717)
2008
12
Cleidocranial dysplasia in a mother and her two children. (18818114)
2008
13
Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation. (17973689)
2007
14
Atlantoaxial subluxation-induced myelopathy in cleidocranial dysplasia. Case report. (17688067)
2007
15
Cleidocranial dysplasia - review with an emphasis on otological and audiological manifestations. (17239447)
2007
16
Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. (16270353)
2006
17
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations. (16463420)
2006
18
Three-dimensional ultrasound in the prenatal diagnosis of cleidocranial dysplasia associated with B-cell immunodeficiency. (16619383)
2006
19
Clarification of data reported in "cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group" (AJMG 139A:78-85). (16575894)
2006
20
Two independent rare events--a mutation in the RUNX2 gene and a de novo balanced translocation--in a fetus with cleidocranial dysplasia: pitfall in prenatal diagnosis. (16865744)
2006
21
Bone scintigraphy in cleidocranial dysplasia. (14688607)
2004
22
Cleidocranial dysplasia. (15235173)
2004
23
Prenatal exclusion of cleidocranial dysplasia. (14634985)
2003
24
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia. (12815605)
2003
25
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. (12424590)
2002
26
Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip. (11459326)
2001
27
Cleidocranial dysplasia. (11832626)
2001
28
An assessment of root cementum in cleidocranial dysplasia. (11510638)
2001
29
A natural history of cleidocranial dysplasia. (11746020)
2001
30
A case of cleidocranial dysplasia confirmed by 3D CT of the cranium. (10730665)
2000
31
Early prenatal ultrasound diagnosis of cleidocranial dysplasia. (10776001)
2000
32
Cleidocranial dysplasia: modern concepts of treatment and a report of an orthodontic resistant case requiring a restorative solution. (10765791)
1999
33
Cleidocranial dysplasia: clinical and molecular genetics. (10204840)
1999
34
Use of selectively colored stereolithography for diagnosis of impacted supernumerary teeth for a patient with cleidocranial dysplasia. (9743649)
1998
35
Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia. (9268099)
1997
36
Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism? (9098480)
1997
37
Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. (9182764)
1997
38
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. (9207800)
1997
39
Multiple supernumerary teeth in association with cleidocranial dysplasia. (9161213)
1996
40
Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. (8782054)
1996
41
Cleidocranial dysplasia and syringomyelia. Case report. (9049895)
1996
42
Cleidocranial dysplasia in mice. (8702161)
1996
43
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. (7717404)
1995
44
Histological observations of teeth and peridental tissues in cleidocranial dysplasia imply increased activity of odontogenic epithelium and abnormal bone remodeling. (8719350)
1995
45
Dental development and molar root length in children with cleidocranial dysplasia. (7603902)
1995
46
Development of the skull in infants with cleidocranial dysplasia. (8325972)
1993
47
Surgical management of a patient with cleidocranial dysplasia: a case report. (1440132)
1992
48
Progressive development of supernumerary teeth in cleidocranial dysplasia. (2775702)
1989
49
Cleidocranial dysplasia: case report. (6419174)
1983
50
Two siblings with cleidocranial dysplasia associated with atresia ani and psoriasis-like lesions: a new syndrome? (7215385)
1981

Genetic Variations for Cleidocranial Dysplasia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Cleidocranial Dysplasia:

63 (show all 45)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 54Reactome, 4Cell Signaling Technology, 12EMD Millipore, 30KEGG, 53R&D Systems
See all sources

Compounds for genes affiliated with Cleidocranial Dysplasia

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Cleidocranial Dysplasia according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1cycloheximide4510.4RUNX2
2fibroin4510.3BMP2, RUNX2
3polycaprolactone4510.2RUNX2, BMP2
4alizarin red s4510.1BMP2, BGLAP
5tio24510.0BGLAP, BMP2
6titanium459.9BMP2, RUNX2, BGLAP
7alginate459.8MMP13, BMP2, BGLAP
8polyglycolic acid459.7BMP2, BGLAP
9alizarin459.7ALPL, BMP2, RUNX2, BGLAP
10heparin45 29 11 2412.7BGLAP, BMP2, MMP13
11alendronate45 50 1111.7MMP13, BMP2, RUNX2, BGLAP
121,25 dihydroxy vitamin d3459.5BGLAP, RUNX2, BMP2, SMAD3
13raloxifene45 29 50 1112.5TGFA, BMP2, BGLAP
14tetracycline45 1110.5BGLAP, BMP2, MMP13
15hydroxyapatite459.5BGLAP, RUNX2, BMP2, MMP13, ALPL
16ribonucleic acid459.3RUNX2, BMP2, MMP13, TGFA
17sb 20358045 6010.3SMAD3, MMP13, BMP2, RUNX2, BGLAP
18matrigel459.2TGFA, SMAD3, MMP13, BMP2
19tgf beta1459.2RUNX2, BMP2, MMP13, SMAD3, TGFA
20dihydrotestosterone45 29 11 2412.2BGLAP, BMP2, SMAD3, TGFA
21prednisolone45 29 1111.1MMP13, RUNX1, BGLAP
22azathioprine45 50 2 1112.1TGFA, BMP2, BGLAP
23ascorbic acid45 2410.1BGLAP, RUNX2, BMP2, MMP13, TGFA
24butyrate459.1TGFA, SMAD3, RUNX1, RUNX2
25thymidine45 2410.0TGFA, SMAD3, MMP13, BMP2, RUNX2
26pd 98,059458.9RUNX2, BMP2, MMP13, SMAD1, SMAD3, TGFA
27vitamin d458.8BGLAP, RUNX2, BMP2, SMAD3, ALPL, TGFA
28tyrosine458.8RUNX1, BMP2, VEGFB, SMAD1, TGFA
29serine458.6BGLAP, RUNX3, RUNX2, BMP2, FZR1, MMP13
30retinoic acid45 249.3BGLAP, RUNX3, RUNX2, RUNX1, BMP2, MMP13
31oligonucleotide458.2RUNX3, RUNX2, RUNX1, BMP2, MMP13, MSX2
32vegf457.7BGLAP, RUNX3, RUNX2, RUNX1, BMP2, VEGFB

GO Terms for genes affiliated with Cleidocranial Dysplasia

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cleidocranial Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet