CCD
MCID: CLD001
MIFTS: 62

Cleidocranial Dysplasia (CCD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cleidocranial Dysplasia

MalaCards integrated aliases for Cleidocranial Dysplasia:

Name: Cleidocranial Dysplasia 57 12 75 53 25 59 74 37 13 55 44 15 72
Cleidocranial Dysostosis 57 12 75 53 25 59 74 29 6
Clcd 57 53 74
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 57 6
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 57 6
Marie-Sainton Disease 12 53
Ccd 57 74
Cleidocranial Dysostosis; Clcd 57
Dysplasia, Cleidocranial 40
Dysplasia Cleidocranial 53
Dento-Osseous Dysplasia 25
Marie-Sainton Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
cleidocranial dysplasia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Europe),1-9/100000 (United States); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one third of patients represent new mutations


HPO:

32
cleidocranial dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:13994
OMIM 57 119600
KEGG 37 H00521
MeSH 44 D002973
NCIt 50 C75020
SNOMED-CT 68 65976001
ICD10 33 Q74.0
MESH via Orphanet 45 D002973
ICD10 via Orphanet 34 Q74.0
UMLS via Orphanet 73 C0008928
Orphanet 59 ORPHA1452
UMLS 72 C0008928

Summaries for Cleidocranial Dysplasia

Genetics Home Reference : 25 Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family. Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles ("cleido-" in the condition name refers to these bones). As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases can be made to meet in the middle of the body. Delayed maturation of the skull (cranium) is also characteristic of this condition, including delayed closing of the growth lines where the bones of the skull meet (sutures) and larger than normal spaces (fontanelles) between the skull bones that are noticeable as "soft spots" on the heads of infants. The fontanelles normally close in early childhood, but they may remain open throughout life in people with this disorder. Some individuals with cleidocranial dysplasia have extra pieces of bone called Wormian bones within the sutures. Affected individuals are often shorter than other members of their family at the same age. Many also have short, tapered fingers and broad thumbs; flat feet; bowed legs or knock knees; short shoulder blades (scapulae); and an abnormal curvature of the spine (scoliosis). Typical facial features include a wide, short skull (brachycephaly); a prominent forehead; wide-set eyes (hypertelorism); a flat nose; and a small upper jaw. Individuals with cleidocranial dysplasia often have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture, at a relatively early age. Women with cleidocranial dysplasia have an increased risk of requiring a cesarean section when delivering a baby, due to a narrow pelvis preventing passage of the infant's head. Dental abnormalities are very common in cleidocranial dysplasia and can include delayed loss of the primary (baby) teeth; delayed appearance of the secondary (adult) teeth; unusually shaped, peg-like teeth; misalignment of the teeth and jaws (malocclusion); and extra teeth, sometimes accompanied by cysts in the gums. In addition to skeletal and dental abnormalities, people with cleidocranial dysplasia may have hearing loss and are prone to sinus and ear infections. Some young children with this condition are mildly delayed in the development of motor skills such as crawling and walking, but intelligence is unaffected.

MalaCards based summary : Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to parietal foramina with cleidocranial dysplasia and hypophosphatasia. An important gene associated with Cleidocranial Dysplasia is RUNX2 (RUNX Family Transcription Factor 2), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and FGF signaling pathway. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include skull, clavicle and bone, and related phenotypes are hypertelorism and frontal bossing

Disease Ontology : 12 An osteochondrodysplasia that has material basis in mutations in the RUNX2 gene which results in undeveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull.

NIH Rare Diseases : 53 Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.

OMIM : 57 The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation. See 168550 for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (265800) and mandibuloacral dysplasia (248370) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis. Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder. (119600)

KEGG : 37
Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, delayed closure of the cranial sutures, and dental abnormalities resulted from defective intramembranous ossification. Mutations in RUNX2, which is involved in osteoblast differentiation, is the cause of the disease.

UniProtKB/Swiss-Prot : 74 Cleidocranial dysplasia: Autosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondral and intramembranous bone formation. Typical features include hypoplasia/aplasia of clavicles, patent fontanelles, wormian bones (additional cranial plates caused by abnormal ossification of the calvaria), supernumerary teeth, short stature, and other skeletal changes. In some cases defects in RUNX2 are exclusively associated with dental anomalies.

Wikipedia : 75 Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly... more...

Related Diseases for Cleidocranial Dysplasia

Diseases in the Cleidocranial Dysplasia family:

Cleidocranial Dysplasia, Recessive Form Cleidocranial Dysplasia Spectrum Disorder

Diseases related to Cleidocranial Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 185)
# Related Disease Score Top Affiliating Genes
1 parietal foramina with cleidocranial dysplasia 35.0 RUNX2 MSX2
2 hypophosphatasia 30.8 RUNX2 ALPL
3 parietal foramina 30.5 RUNX2 MSX2 CBFB
4 holoprosencephaly 3 30.2 SHH RUNX2
5 hypophosphatasia, adult 29.9 BGLAP ALPL
6 bone resorption disease 29.6 RUNX2 BGLAP
7 bone disease 28.6 RUNX2 FGFR2 COL10A1 BGLAP ALPL
8 cleidocranial dysplasia spectrum disorder 12.6
9 yunis-varon syndrome 12.5
10 central core disease of muscle 12.5
11 cleidocranial dysplasia, recessive form 12.4
12 cleidocranial dysplasia and isolated cranial ossification defect 12.3
13 congenital chloride diarrhea 12.0
14 oculodentodigital dysplasia 11.9
15 cerebral creatine deficiency syndrome 1 11.3
16 creatine deficiency syndromes 11.2
17 cerebral creatine deficiency syndrome 2 11.2
18 cerebral creatine deficiency syndrome 11.2
19 teeth, supernumerary 11.0
20 hypertelorism 10.5
21 scoliosis 10.4
22 dysostosis 10.4
23 core binding factor acute myeloid leukemia 10.4 RUNX2 CBFB
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
25 craniometaphyseal dysplasia, autosomal dominant 10.3 MSX2 COL10A1
26 metaphyseal chondrodysplasia, schmid type 10.3 RUNX2 COL10A1
27 rothmund-thomson syndrome 10.3
28 coxa vara 10.3
29 dental anomalies and short stature 10.3
30 leukemia, acute myeloid 10.3
31 branchiootic syndrome 1 10.3
32 limb ischemia 10.3
33 osteopetrosis 10.3
34 neurilemmoma 10.3
35 ischemia 10.3
36 spondylocarpotarsal synostosis syndrome 10.3 RUNX2 COL10A1
37 malignant hyperthermia 10.3
38 hair whorl 10.2
39 brachydactyly 10.2
40 myeloid leukemia 10.2
41 spondyloepiphyseal dysplasia congenita 10.2 RUNX2 COL10A1
42 malignant hyperthermia 1 10.2
43 pathologic nystagmus 10.2
44 oculodentodigital dysplasia, autosomal recessive 10.2
45 intraocular pressure quantitative trait locus 10.2
46 persistent hyperplastic primary vitreous 10.2
47 osteoporosis 10.1
48 otitis media 10.1
49 triiodothyronine receptor auxiliary protein 10.1
50 hypophosphatasia, infantile 10.1

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



Diseases related to Cleidocranial Dysplasia

Symptoms & Phenotypes for Cleidocranial Dysplasia

Human phenotypes related to Cleidocranial Dysplasia:

59 32 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
4 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
5 hypoplastic inferior ilia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008821
6 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
7 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
8 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
9 high, narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002705
10 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
11 wormian bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0002645
12 increased number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0011069
13 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
14 down-sloping shoulders 59 32 hallmark (90%) Very frequent (99-80%) HP:0200021
15 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
16 sloping forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000340
17 short clavicles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000894
18 hypoplasia of the zygomatic bone 32 hallmark (90%) HP:0010669
19 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
20 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
21 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
22 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
23 open bite 59 32 frequent (33%) Frequent (79-30%) HP:0010807
24 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
25 sinusitis 59 32 frequent (33%) Frequent (79-30%) HP:0000246
26 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
27 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
28 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
29 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
30 spina bifida occulta 59 32 frequent (33%) Frequent (79-30%) HP:0003298
31 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
32 abnormal sacrum morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005107
33 short face 59 32 frequent (33%) Frequent (79-30%) HP:0011219
34 decreased skull ossification 59 32 frequent (33%) Frequent (79-30%) HP:0004331
35 dimple chin 32 frequent (33%) HP:0010751
36 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
37 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
38 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
39 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
40 sleep apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0010535
41 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
42 glossoptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000162
43 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
44 abnormal thumb morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001172
45 broad forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000337
46 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
47 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
48 coxa vara 59 32 occasional (7.5%) Occasional (29-5%) HP:0002812
49 tapered finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0001182
50 dystrophic toenail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001810

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Skeletal Spine:
scoliosis
kyphosis
spondylolisthesis
spondylolysis

Skeletal Skull:
wormian bones
hypoplastic frontal sinuses
absent frontal sinuses
absent paranasal sinuses
large foramen magnum
more
Skeletal Hands:
brachydactyly
long second metacarpal
short middle phalanges of second and fifth fingers
cone-shaped phalangeal epiphyses

Neurologic Peripheral Nervous System:
syringomyelia

Head And Neck Head:
parietal bossing
delayed fontanelle closure
anterior fontanelle open in adults

Head And Neck Nose:
low nasal bridge

Skeletal:
osteosclerosis
increased bone fragility

Respiratory Airways:
respiratory distress in early infancy

Head And Neck Face:
frontal bossing
micrognathia
midface hypoplasia
metopic groove

Head And Neck Mouth:
cleft palate
narrow, high-arched palate

Skeletal Pelvis:
hypoplastic iliac wing
coxa vara
wide pubic symphysis
delayed mineralization of pubic bone
broad femoral head with short femoral neck

Chest Ribs Sternum Clavicles And Scapulae:
cervical ribs
aplastic clavicles
short ribs
small scapula
hypoplastic clavicles

Head And Neck Teeth:
delayed eruption of permanent teeth
enamel hypoplasia
delayed eruption of deciduous teeth
supernumerary teeth
retention cysts

Chest External Features:
abnormal facility in opposing the shoulders
narrow thorax

Head And Neck Ears:
deafness

Growth Height:
short stature, moderate

Clinical features from OMIM:

119600

MGI Mouse Phenotypes related to Cleidocranial Dysplasia:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.19 ALPL CBFB COL10A1 FGFR2 FIG4 MSX2
2 growth/size/body region MP:0005378 10.15 ALPL CBFB COL10A1 FGFR2 FIG4 MSX2
3 endocrine/exocrine gland MP:0005379 10.11 ALPL CBFB COL10A1 FGFR2 MSX2 RUNX2
4 immune system MP:0005387 10.11 ALPL CBFB COL10A1 FGFR2 FIG4 MSX2
5 behavior/neurological MP:0005386 10.1 ALPL COL10A1 FGFR2 FIG4 MSX2 RUNX3
6 cardiovascular system MP:0005385 10.09 ALPL CBFB FGFR2 FIG4 MSX2 RUNX2
7 hematopoietic system MP:0005397 10.08 ALPL CBFB COL10A1 FGFR2 FIG4 MSX2
8 digestive/alimentary MP:0005381 10.07 ALPL CBFB FGFR2 MSX2 RUNX2 RUNX3
9 limbs/digits/tail MP:0005371 10.06 ALPL CBFB COL10A1 FGFR2 FIG4 MSX2
10 mortality/aging MP:0010768 10.02 ALPL CBFB COL10A1 FGFR2 FIG4 MSX2
11 integument MP:0010771 9.98 CBFB FGFR2 FIG4 MSX2 RUNX2 RUNX3
12 nervous system MP:0003631 9.91 ALPL CBFB COL10A1 FGFR2 FIG4 MSX2
13 muscle MP:0005369 9.87 ALPL FGFR2 FIG4 MSX2 RUNX2 RUNX3
14 no phenotypic analysis MP:0003012 9.55 CBFB FGFR2 RUNX2 RUNX3 SHH
15 respiratory system MP:0005388 9.43 ALPL CBFB FGFR2 RUNX2 RUNX3 SHH
16 skeleton MP:0005390 9.28 ALPL CBFB COL10A1 FGFR2 FIG4 MSX2

Drugs & Therapeutics for Cleidocranial Dysplasia

Drugs for Cleidocranial Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224

Search NIH Clinical Center for Cleidocranial Dysplasia

Cochrane evidence based reviews: cleidocranial dysplasia

Genetic Tests for Cleidocranial Dysplasia

Genetic tests related to Cleidocranial Dysplasia:

# Genetic test Affiliating Genes
1 Cleidocranial Dysostosis 29 RUNX2

Anatomical Context for Cleidocranial Dysplasia

The Foundational Model of Anatomy Ontology organs/tissues related to Cleidocranial Dysplasia:

19
Skull, Clavicle

MalaCards organs/tissues related to Cleidocranial Dysplasia:

41
Bone, Eye, Liver, Bone Marrow, Myeloid, Heart, Kidney

Publications for Cleidocranial Dysplasia

Articles related to Cleidocranial Dysplasia:

(show top 50) (show all 864)
# Title Authors PMID Year
1
Dysregulation of chondrogenesis in human cleidocranial dysplasia. 9 38 8 71
15952089 2005
2
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 9 38 8 71
10545612 1999
3
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. 38 8 71
12424590 2002
4
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 38 8 71
9182765 1997
5
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. 9 38 8
20014132 2010
6
A Runx2 threshold for the cleidocranial dysplasia phenotype. 9 38 8
19028669 2009
7
Severe cleidocranial dysplasia can mimic hypophosphatasia. 9 38 8
12424591 2002
8
The presence of germ line mosaicism in cleidocranial dysplasia. 38 8
17539909 2007
9
Clarification of data reported in "cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group" (AJMG 139A:78-85). 38 8
16575894 2006
10
Cleidocranial Dysplasia Spectrum Disorder 38 71
20301686 2006
11
Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group. 38 8
16222673 2005
12
Cleidocranial dysplasia with new additional findings. 38 8
15287425 2004
13
New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia. 38 71
12081718 2002
14
A natural history of cleidocranial dysplasia. 38 8
11746020 2001
15
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 38 71
10521292 1999
16
Cleidocranial dysplasia: clinical and molecular genetics. 38 8
10204840 1999
17
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 38 71
9207800 1997
18
Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism? 38 8
9098480 1997
19
Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. 38 8
8782054 1996
20
Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. 38 8
8533817 1995
21
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. 38 8
7717404 1995
22
Cleidocranial dysplasia associated with a t(6;18)(p12;q24) translocation. 38 8
7747775 1995
23
Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. 38 8
7711736 1995
24
Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna. 38 8
8279481 1993
25
Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh). 38 8
8270769 1993
26
Abnormal ossification of the hyoid bone in cleidocranial dysplasia. 38 8
8348356 1993
27
Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia. 38 8
8362902 1993
28
Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. 38 8
1605259 1992
29
Intrafamilial variability in cleidocranial dysplasia: a three generation family. 38 8
1536165 1992
30
Somatic development in cleidocranial dysplasia. 38 8
2301472 1990
31
Animal model: skeletal anomalies in mice with cleidocranial dysplasia. 38 8
3605208 1987
32
Mandibular prognathism and apertognathia associated with cleidocranial dysostosis in a father and son. 38 8
271922 1977
33
Evidence for an autosomal recessive form of cleidocranial dysostosis. 38 8
1149318 1975
34
Cleidocranial dysostosis. 38 8
13930107 1963
35
Cleidocranial dysostosis. Report of six typical cases and one atypical case. 38 8
14453327 1962
36
The inheritance of cleidocranial dysostosis. 38 8
20285001 1946
37
A genetic linkage map of the mouse: current applications and future prospects. 8
8211130 1993
38
Gamma-ray-induced dominant mutations that cause skeletal abnormalities in mice. II. Description of proved mutations. 8
692541 1978
39
Familial generalized delayed eruption of the dentition with short stature. 8
1062752 1976
40
Osteo-dental dysplasia (cleido-cranial dysostosis); the "Arnold head". 8
14818746 1951
41
The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta. 9 38
20225274 2010
42
[Two novel RUNX2 gene mutations in two Chinese families with cleidocranial dysplasia]. 9 38
20376792 2010
43
Cleidocranial dysplasia: clinico-radiological illustration of a rare case. 9 38
20339249 2010
44
RUNX2 mutations in cleidocranial dysplasia patients. 9 38
19744171 2010
45
A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. 9 38
20082269 2010
46
The significance of RUNX2 in postnatal development of the mandibular condyle. 9 38
20135247 2010
47
Perspectives on RUNX genes: an update. 9 38
19830829 2009
48
The role of periodontal ligament cells in delayed tooth eruption in patients with cleidocranial dysostosis. 9 38
19960292 2009
49
Novel RUNX2 mutations in Chinese individuals with cleidocranial dysplasia. 9 38
19767586 2009
50
RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 9 38
19515746 2009

Variations for Cleidocranial Dysplasia

ClinVar genetic disease variations for Cleidocranial Dysplasia:

6 (show top 50) (show all 84)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RUNX2 NM_001024630.4(RUNX2) indel Pathogenic rs730880313 6:45390460-45390474 6:45422723-45422737
2 RUNX2 NM_001024630.4(RUNX2): c.891G> A (p.Trp297Ter) single nucleotide variant Pathogenic rs104893988 6:45480014-45480014 6:45512277-45512277
3 RUNX2 NM_001024630.4(RUNX2): c.231_260dup (p.Ala80_Ala89dup) duplication Pathogenic rs606231174 6:45390494-45390523 6:45422757-45422786
4 RUNX2 NM_001024630.4(RUNX2): c.524T> G (p.Met175Arg) single nucleotide variant Pathogenic rs104893989 6:45399700-45399700 6:45431963-45431963
5 RUNX2 NM_001024630.4(RUNX2): c.572G> A (p.Ser191Asn) single nucleotide variant Pathogenic rs104893990 6:45399748-45399748 6:45432011-45432011
6 RUNX2 NM_001024630.4(RUNX2): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs104893991 6:45405777-45405777 6:45438040-45438040
7 RUNX2 NM_001024630.4(RUNX2): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs104893992 6:45405776-45405776 6:45438039-45438039
8 RUNX2 NM_001024630.4(RUNX2): c.598A> G (p.Thr200Ala) single nucleotide variant Pathogenic rs104893993 6:45405701-45405701 6:45437964-45437964
9 RUNX2 NM_001024630.4(RUNX2): c.1565G> C (p.Ter522Ser) single nucleotide variant Pathogenic rs104893994 6:45515041-45515041 6:45547304-45547304
10 RUNX2 NM_001024630.4(RUNX2): c.506G> C (p.Arg169Pro) single nucleotide variant Pathogenic rs104893995 6:45399682-45399682 6:45431945-45431945
11 RUNX2 NM_001024630.4(RUNX2): c.1228dup (p.Leu410fs) duplication Pathogenic rs730880315 6:45514704-45514704 6:45546967-45546967
12 RUNX2 NM_001024630.4(RUNX2): c.1171C> T (p.Arg391Ter) single nucleotide variant Pathogenic rs397515537 6:45514647-45514647 6:45546910-45546910
13 RUNX2 NM_001024630.4(RUNX2): c.90dup (p.Ser31fs) duplication Pathogenic rs397515538 6:45390361-45390361 6:45422624-45422624
14 RUNX2 single nucleotide variant Pathogenic
15 RUNX2 NM_001024630.4(RUNX2): c.476G> A (p.Gly159Asp) single nucleotide variant Pathogenic rs864621970 6:45399652-45399652 6:45431915-45431915
16 RUNX2 NM_001024630.4(RUNX2): c.217del (p.Ala73fs) deletion Conflicting interpretations of pathogenicity rs1554384228 6:45390488-45390488 6:45422751-45422751
17 RUNX2 NM_001024630.4(RUNX2): c.233_234insAGGA (p.Ala79fs) insertion Uncertain significance rs1338909353 6:45390504-45390505 6:45422767-45422768
18 RUNX2 NM_001024630.4(RUNX2): c.159_173ACAGCAGCAGCAGCA[3] (p.Gln67_Gln71dup) short repeat Uncertain significance rs781355841 6:45390418-45390419 6:45422681-45422682
19 RUNX2 NM_001024630.4(RUNX2): c.-66-14G> T single nucleotide variant Uncertain significance rs768238770 6:45296384-45296384 6:45328647-45328647
20 RUNX2 NM_001024630.4(RUNX2): c.*591del deletion Uncertain significance rs886061494 6:45515633-45515633 6:45547896-45547896
21 RUNX2 NM_001024630.4(RUNX2): c.*608T> C single nucleotide variant Uncertain significance rs886061495 6:45515650-45515650 6:45547913-45547913
22 RUNX2 NM_001024630.4(RUNX2): c.*881A> G single nucleotide variant Uncertain significance rs886061498 6:45515923-45515923 6:45548186-45548186
23 RUNX2 NM_001024630.4(RUNX2): c.*967T> C single nucleotide variant Uncertain significance rs886061499 6:45516009-45516009 6:45548272-45548272
24 RUNX2 NM_001024630.4(RUNX2): c.*1415G> T single nucleotide variant Uncertain significance rs146749281 6:45516457-45516457 6:45548720-45548720
25 RUNX2 NM_001024630.4(RUNX2): c.*1549T> A single nucleotide variant Uncertain significance rs757660837 6:45516591-45516591 6:45548854-45548854
26 RUNX2 NM_001024630.4(RUNX2): c.*2890A> G single nucleotide variant Uncertain significance rs886061508 6:45517932-45517932 6:45550195-45550195
27 RUNX2 NM_001024630.4(RUNX2): c.*1278T> C single nucleotide variant Uncertain significance rs756225322 6:45516320-45516320 6:45548583-45548583
28 RUNX2 NM_001024630.4(RUNX2): c.*1455C> T single nucleotide variant Uncertain significance rs886061501 6:45516497-45516497 6:45548760-45548760
29 RUNX2 NM_001024630.4(RUNX2): c.*1684G> C single nucleotide variant Uncertain significance rs745340776 6:45516726-45516726 6:45548989-45548989
30 RUNX2 NM_001024630.4(RUNX2): c.*2612C> G single nucleotide variant Uncertain significance rs539989584 6:45517654-45517654 6:45549917-45549917
31 RUNX2 NM_001024630.4(RUNX2): c.*2697del deletion Uncertain significance rs886061506 6:45517739-45517739 6:45550002-45550002
32 RUNX2 NM_001024630.4(RUNX2): c.*3218A> G single nucleotide variant Uncertain significance rs554368801 6:45518260-45518260 6:45550523-45550523
33 RUNX2 NM_001024630.4(RUNX2): c.*3329T> C single nucleotide variant Uncertain significance rs886061509 6:45518371-45518371 6:45550634-45550634
34 RUNX2 NM_001024630.4(RUNX2): c.*3605C> T single nucleotide variant Uncertain significance rs562888619 6:45518647-45518647 6:45550910-45550910
35 RUNX2 NM_001024630.4(RUNX2): c.*2622G> C single nucleotide variant Uncertain significance rs886061504 6:45517664-45517664 6:45549927-45549927
36 RUNX2 NM_001024630.4(RUNX2): c.*2845A> C single nucleotide variant Uncertain significance rs558458433 6:45517887-45517887 6:45550150-45550150
37 RUNX2 NM_001024630.4(RUNX2): c.*794T> C single nucleotide variant Uncertain significance rs886061497 6:45515836-45515836 6:45548099-45548099
38 RUNX2 NM_001024630.4(RUNX2): c.*701C> G single nucleotide variant Uncertain significance rs886061496 6:45515743-45515743 6:45548006-45548006
39 RUNX2 NM_001024630.4(RUNX2): c.581-9T> C single nucleotide variant Uncertain significance rs374414428 6:45405675-45405675 6:45437938-45437938
40 RUNX2 NM_001024630.4(RUNX2): c.234G> A (p.Ala78=) single nucleotide variant Uncertain significance rs886061493 6:45390505-45390505 6:45422768-45422768
41 RUNX2 NM_001024630.4(RUNX2): c.*3642C> T single nucleotide variant Uncertain significance rs886061510 6:45518684-45518684 6:45550947-45550947
42 RUNX2 NM_001024630.4(RUNX2): c.-64T> C single nucleotide variant Uncertain significance rs750277342 6:45296400-45296400 6:45328663-45328663
43 RUNX2 NM_001024630.4(RUNX2): c.-40C> T single nucleotide variant Uncertain significance rs886061492 6:45296424-45296424 6:45328687-45328687
44 RUNX2 NM_001024630.4(RUNX2): c.*2318A> T single nucleotide variant Uncertain significance rs886061502 6:45517360-45517360 6:45549623-45549623
45 RUNX2 NM_001024630.4(RUNX2): c.*2435T> C single nucleotide variant Uncertain significance rs886061503 6:45517477-45517477 6:45549740-45549740
46 RUNX2 NM_001024630.4(RUNX2): c.*2689_*2692CTTT[2] short repeat Uncertain significance rs886061505 6:45517739-45517742 6:45550002-45550005
47 RUNX2 NM_001024630.4(RUNX2): c.*2786A> G single nucleotide variant Uncertain significance rs886061507 6:45517828-45517828 6:45550091-45550091
48 RUNX2 NM_001024630.4(RUNX2): c.1379C> T (p.Pro460Leu) single nucleotide variant Uncertain significance 6:45514855-45514855 6:45547118-45547118
49 RUNX2 NM_001024630.4(RUNX2): c.*1534T> C single nucleotide variant Likely benign rs140371943 6:45516576-45516576 6:45548839-45548839
50 RUNX2 NM_001024630.4(RUNX2): c.*2826G> A single nucleotide variant Likely benign rs537731522 6:45517868-45517868 6:45550131-45550131

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

74 (show all 47)
# Symbol AA change Variation ID SNP ID
1 RUNX2 p.Leu113Arg VAR_012132
2 RUNX2 p.Ser118Arg VAR_012133
3 RUNX2 p.Phe121Cys VAR_012134
4 RUNX2 p.Cys123Arg VAR_012135
5 RUNX2 p.Arg169Gln VAR_012137 rs104893995
6 RUNX2 p.Met175Arg VAR_012138 rs104893989
7 RUNX2 p.Arg190Gln VAR_012139 rs105752106
8 RUNX2 p.Arg190Trp VAR_012140
9 RUNX2 p.Ser191Asn VAR_012141 rs104893990
10 RUNX2 p.Arg193Cys VAR_012142
11 RUNX2 p.Phe197Ser VAR_012143
12 RUNX2 p.Leu199Phe VAR_012144
13 RUNX2 p.Thr200Ala VAR_012145 rs104893993
14 RUNX2 p.Thr205Arg VAR_012146
15 RUNX2 p.Gln209Arg VAR_012147
16 RUNX2 p.Arg225Gln VAR_012148 rs104893991
17 RUNX2 p.Arg225Trp VAR_012149 rs104893992
18 RUNX2 p.Gln53Leu VAR_064081
19 RUNX2 p.Ser118Asn VAR_064082
20 RUNX2 p.Arg131Cys VAR_064083
21 RUNX2 p.Arg131Gly VAR_064084
22 RUNX2 p.Arg131Ser VAR_064085
23 RUNX2 p.Leu136Pro VAR_064086
24 RUNX2 p.Val156Asp VAR_064087
25 RUNX2 p.Val156Gly VAR_064088
26 RUNX2 p.Arg169Pro VAR_064089 rs104893995
27 RUNX2 p.Met175Lys VAR_064090
28 RUNX2 p.Met175Val VAR_064091 rs201647225
29 RUNX2 p.Phe187Ser VAR_064092
30 RUNX2 p.Arg193Gln VAR_064093
31 RUNX2 p.Thr200Ile VAR_064094
32 RUNX2 p.Ile201Lys VAR_064095
33 RUNX2 p.Gln209His VAR_064096
34 RUNX2 p.Ala211Pro VAR_064097
35 RUNX2 p.Lys218Glu VAR_064098
36 RUNX2 p.Lys218Asn VAR_064099 rs752933596
37 RUNX2 p.Lys218Gln VAR_064100
38 RUNX2 p.Thr220Ile VAR_064101
39 RUNX2 p.Arg225Leu VAR_064102
40 RUNX2 p.Arg228Gly VAR_064103
41 RUNX2 p.Lys233Arg VAR_064104
42 RUNX2 p.Asp287Asn VAR_064105
43 RUNX2 p.Ala362Val VAR_064106
44 RUNX2 p.Thr420Ile VAR_064107
45 RUNX2 p.Thr420Asn VAR_064108
46 RUNX2 p.Arg186Thr VAR_079577
47 RUNX2 p.Arg193Gly VAR_079578

Copy number variations for Cleidocranial Dysplasia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 210237 6 29900000 45200000 Deletion RUNX2 Cleidocranial dysplasia
2 213416 6 45404031 45626797 Microdeletion RUNX2 Cleidocranial dysplasia

Expression for Cleidocranial Dysplasia

Search GEO for disease gene expression data for Cleidocranial Dysplasia.

Pathways for Cleidocranial Dysplasia

GO Terms for Cleidocranial Dysplasia

Cellular components related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.13 SHH COL10A1 ALPL
2 core-binding factor complex GO:0016513 8.62 RUNX3 CBFB

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

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.91 TCF7 SHH RUNX3 MSX2 FGFR2 CBFB
2 skeletal system development GO:0001501 9.71 RUNX2 COL10A1 BGLAP ALPL
3 positive regulation of cell division GO:0051781 9.68 SHH FGFR2
4 skeletal system morphogenesis GO:0048705 9.68 RUNX2 FGFR2
5 chondrocyte differentiation GO:0002062 9.68 RUNX3 RUNX2
6 bone mineralization GO:0030282 9.68 FGFR2 BGLAP
7 positive regulation of Wnt signaling pathway GO:0030177 9.67 SHH FGFR2
8 biomineral tissue development GO:0031214 9.67 BGLAP ALPL
9 midbrain development GO:0030901 9.67 SHH FGFR2
10 cell maturation GO:0048469 9.66 RUNX2 CBFB
11 embryonic cranial skeleton morphogenesis GO:0048701 9.66 RUNX2 FGFR2
12 bone morphogenesis GO:0060349 9.65 MSX2 FGFR2
13 embryonic organ development GO:0048568 9.65 SHH FGFR2
14 stem cell differentiation GO:0048863 9.65 RUNX2 MSX2
15 outflow tract septum morphogenesis GO:0003148 9.64 MSX2 FGFR2
16 embryonic hindlimb morphogenesis GO:0035116 9.64 SHH MSX2
17 positive regulation of mesenchymal cell proliferation GO:0002053 9.63 SHH FGFR2
18 endochondral ossification GO:0001958 9.63 RUNX2 ALPL
19 hair follicle morphogenesis GO:0031069 9.62 SHH FGFR2
20 embryonic pattern specification GO:0009880 9.62 SHH FGFR2
21 response to vitamin D GO:0033280 9.61 BGLAP ALPL
22 chondrocyte development GO:0002063 9.61 RUNX2 MSX2
23 regulation of osteoblast differentiation GO:0045667 9.6 RUNX2 FGFR2
24 branching involved in salivary gland morphogenesis GO:0060445 9.59 SHH FGFR2
25 limb bud formation GO:0060174 9.58 SHH FGFR2
26 lung-associated mesenchyme development GO:0060484 9.58 SHH FGFR2
27 lung lobe morphogenesis GO:0060463 9.56 SHH FGFR2
28 ossification GO:0001503 9.56 RUNX2 MSX2 CBFB BGLAP
29 endochondral bone growth GO:0003416 9.55 MSX2 FGFR2
30 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.54 SHH FGFR2
31 embryonic forelimb morphogenesis GO:0035115 9.54 SHH RUNX2 MSX2
32 branching involved in prostate gland morphogenesis GO:0060442 9.52 SHH FGFR2
33 positive regulation of CD8-positive, alpha-beta T cell differentiation GO:0043378 9.51 RUNX3 CBFB
34 embryonic digestive tract morphogenesis GO:0048557 9.5 TCF7 SHH FGFR2
35 negative regulation of CD4-positive, alpha-beta T cell differentiation GO:0043371 9.49 RUNX3 CBFB
36 prostate epithelial cord elongation GO:0060523 9.48 SHH FGFR2
37 mesenchymal cell proliferation involved in lung development GO:0060916 9.46 SHH FGFR2
38 odontogenesis GO:0042476 9.46 SHH MSX2 FGFR2 BGLAP
39 osteoblast differentiation GO:0001649 9.35 RUNX2 MSX2 CBFB BGLAP ALPL
40 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.27 RUNX2
41 osteoblast development GO:0002076 8.92 SHH RUNX2 MSX2 BGLAP

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

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 8.8 TCF7 RUNX2 MSX2

Sources for Cleidocranial Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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