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 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 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 clavicle, skull 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)
  • 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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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
Clavicle, Skull

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
Orthodontic and surgical management of cleidocranial dysplasia. (24228240)
2013
2
Cleidocranial dysplasia: complete clinical, radiological and histological profiles. (23519515)
2013
3
One in 10 million: a case of cleidocranial dysplasia and acute lymphoblastic leukaemia--more than just a coincidence? (22569278)
2012
4
A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene. (23220435)
2012
5
A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia. (21466863)
2011
6
Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia. (21131390)
2011
7
A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia. (22194205)
2011
8
RUNX2 analysis of Danish cleidocranial dysplasia families. (20560987)
2011
9
The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta. (20225274)
2010
10
Clinical and image features, and identification of pathogenic gene mutation of two cleidocranial dysplasia families]. (21215027)
2010
11
Cleidocranial dysplasia (CCD) causing respiratory distress syndrome in a newborn infant. A case report. (22470720)
2010
12
Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation. (20299969)
2010
13
Two novel RUNX2 gene mutations in two Chinese families with cleidocranial dysplasia]. (20376792)
2010
14
A family with cleidocranial dysplasia and crossed ectopic kidney in one child. (19774820)
2009
15
A Runx2 threshold for the cleidocranial dysplasia phenotype. (19028669)
2009
16
RUNX2 mutations in Chinese patients with cleidocranial dysplasia. (19515746)
2009
17
A novel RUNX2 mutation in cleidocranial dysplasia patients. (18777095)
2008
18
The presence of germ line mosaicism in cleidocranial dysplasia. (17539909)
2007
19
A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails. (18166138)
2007
20
Dental treatment strategies in a 40-year-old patient with cleidocranial dysplasia. (16682765)
2006
21
Cleidocranial dysplasia with bilateral polycystic ovarian disease and Mullerian abnormality of the uterus: a case report. (16630296)
2006
22
Morphologic characteristics of masseter muscle in cleidocranial dysplasia: a report of 3 cases. (15660090)
2005
23
Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature. (16143022)
2005
24
Early craniofacial signs of cleidocranial dysplasia. (14706028)
2004
25
Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations. (12732182)
2003
26
Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systematic review. (15070835)
2003
27
Cleidocranial dysplasia--a case revisited. (14648917)
2003
28
Oral pathology quiz #3. Cleidocranial dysplasia. (11889933)
2002
29
Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. (12196916)
2002
30
Radiological findings and molecular genetic confirmation of cleidocranial dysplasia. (12069472)
2002
31
Cleidocranial dysplasia--a case report. (12174715)
2002
32
Evidence of intrafamilial variability of CBFA1/RUNX2 expression in cleidocranial dysplasia--a family study. (12132307)
2002
33
Atypical expression of cleidocranial dysplasia: clinical and molecular-genetic analysis. (12416539)
2002
34
Hearing loss as a presenting symptom of cleidocranial dysplasia. (11698808)
2001
35
A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity. (11321595)
2000
36
A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia. (10962029)
2000
37
Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review. (10463294)
1998
38
Characteristics of jaw growth in cleidocranial dysplasia. (9527313)
1998
39
The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia. (9233771)
1997
40
Cleidocranial dysplasia: Part 2--Treatment protocol for the orthodontic and surgical modality. (9057617)
1997
41
Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. (8533817)
1995
42
Facial and dental anomalies in cleidocranial dysplasia: a study of 17 cases. (7748861)
1994
43
Cleidocranial dysplasia: craniofacial morphology in adult patients. (7852545)
1994
44
Cleidocranial Dysplasia (20301686)
1993
45
Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. (1605259)
1992
46
Management of a mandibular fracture in a patient with cleidocranial dysplasia: report of a case and review of the literature. (2005496)
1991
47
Cleidocranial dysplasia-treatment of dental problems: report a case. (6946090)
1981
48
Vertical maxillary deficiency with cleidocranial dysplasia. Diagnostic findings and surgical-orthodontic correction. (6933861)
1980
49
Cleidocranial dysplasia. (451212)
1979
50
Cleidocranial dysplasia (formerly cleidocranial dysostosis) with dental anomalies (two cases). (5173233)
1971

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
  • Lysates
  • 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