CLCD1
MCID: CLD021
MIFTS: 66

Cleidocranial Dysplasia 1 (CLCD1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Cleidocranial Dysplasia 1

MalaCards integrated aliases for Cleidocranial Dysplasia 1:

Name: Cleidocranial Dysplasia 1 57
Cleidocranial Dysplasia 57 11 19 42 58 75 73 12 53 43 14 71
Cleidocranial Dysostosis 57 11 19 42 58 75 73 28 5
Clcd 57 19 73
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 57 28
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 57 28
Marie-Sainton Disease 11 19
Ccd 57 73
Dysplasia, Cleidocranial 38
Dysplasia Cleidocranial 19
Dento-Osseous Dysplasia 42
Marie-Sainton Syndrome 42
Clcd1 57

Characteristics:


Inheritance:

Cleidocranial Dysplasia 1: Autosomal dominant 57
Cleidocranial Dysplasia: Autosomal dominant 58

Prevelance:

Cleidocranial Dysplasia: 1-9/1000000 (Worldwide, Europe) 1-9/100000 (United States) 58

Age Of Onset:

Cleidocranial Dysplasia: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
one third of patients represent new mutations


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Cleidocranial Dysplasia 1

MedlinePlus Genetics: 42 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; 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 1, also known as cleidocranial dysplasia, is related to parietal foramina with cleidocranial dysplasia and trichodentoosseous syndrome. An important gene associated with Cleidocranial Dysplasia 1 is RUNX2 (RUNX Family Transcription Factor 2), and among its related pathways/superpathways are Gene expression (Transcription) and TGF-beta receptor signaling in skeletal dysplasias. Affiliated tissues include clavicle, skull and bone, and related phenotypes are frontal bossing and skeletal dysplasia

GARD: 19 Cleidocranial dysplasia (CCD) affects the development of the bones, skull, and teeth. Signs and symptoms include underdeveloped or absent collarbones (clavicles), dental abnormalities, and delayed closing of the spaces between the skull bones (fontanels). Other symptoms may include decreased bone density (osteopenia), hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. People with CCD may develop curvature of the spine (scoliosis), osteoporosis, and may be shorter than average. CCD occurs due to a RUNX2 gene that is not working correctly and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies, and genetic testings.

UniProtKB/Swiss-Prot: 73 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.

OMIM®: 57 The main clinical features of cleidocranial dysplasia (CLCD) 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. (119600) (Updated 08-Dec-2022)

Orphanet: 58 Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

Disease Ontology: 11 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.

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

Related Diseases for Cleidocranial Dysplasia 1

Diseases in the Cleidocranial Dysplasia, Recessive Form family:

Cleidocranial Dysplasia 1 Cleidocranial Dysplasia 2
Cleidocranial Dysplasia Spectrum Disorder

Diseases related to Cleidocranial Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 324)
# Related Disease Score Top Affiliating Genes
1 parietal foramina with cleidocranial dysplasia 33.1 RUNX2 MSX2
2 trichodentoosseous syndrome 32.7 MSX2 DLX5 DLX3
3 brachydactyly 30.7 SOX9 RUNX2 IHH BMP2
4 scoliosis 30.6 TNFSF11 SOX9 RUNX2 COL10A1 BGLAP
5 parietal foramina 30.5 RUNX2 NELL1 MSX2 IBSP DLX5
6 hypophosphatasia 30.5 SPP1 RUNX2 BGLAP ALPL
7 synostosis 30.4 RUNX2 NELL1 MSX2 IHH BMP2
8 root resorption 30.4 TNFSF11 SPP1 RUNX2
9 osteomalacia 30.4 TNFSF11 BGLAP ALPL
10 endosteal hyperostosis, autosomal dominant 30.3 TNFSF11 SP7 SOX9 IBSP BMP2
11 dental caries 30.3 SPP1 IBSP DLX3 BMP2
12 chondrosarcoma 30.2 SOX9 RUNX2 COL10A1 BMP2
13 rickets 30.2 SPP1 IBSP BGLAP ALPL
14 fibrous dysplasia 30.1 TNFSF11 SPP1 IBSP BGLAP
15 tooth agenesis 30.0 RUNX2 MSX2 DLX5 DLX3 BMP2
16 bone disease 30.0 TNFSF11 SPP1 SP7 RUNX2 IBSP COL10A1
17 dysostosis 29.9 RUNX2 MSX2 IHH
18 cleft palate, isolated 29.9 SP7 SOX9 RUNX2 MSX2 IHH IBSP
19 osteoporosis 29.7 TNFSF11 SPP1 SP7 SOX9 RUNX2 NELL1
20 craniosynostosis 29.6 SPP1 SP7 SOX9 RUNX2 NELL1 MSX2
21 brittle bone disorder 29.5 TNFSF11 SPP1 SP7 SOX9 RUNX2 MSX2
22 osteochondrodysplasia 29.1 TNFSF11 SPP1 SP7 SOX9 RUNX3 RUNX2
23 central core disease of muscle 11.7
24 congenital chloride diarrhea 11.4
25 oculodentodigital dysplasia 11.4
26 cleidocranial dysplasia, recessive form 11.2
27 cleidocranial dysplasia and isolated cranial ossification defect 11.1
28 cerebral creatine deficiency syndrome 1 11.1
29 cardiac diverticulum 11.1
30 cleidocranial dysplasia 2 11.0
31 creatine deficiency disorders 10.7
32 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 10.4 RUNX2 LOC109611589
33 periodontitis 10.4 TNFSF11 RUNX2 BGLAP
34 ossification of the posterior longitudinal ligament of spine 10.4 RUNX2 BMP2 BGLAP
35 camurati-engelmann disease 10.4 SP7 RUNX2 BGLAP
36 osteogenesis imperfecta, type xxi 10.4 SPP1 BGLAP
37 chronic apical periodontitis 10.4 TNFSF11 RUNX2
38 extraosseous osteosarcoma 10.4 SP7 BGLAP
39 hyperostosis 10.4 SPP1 COL10A1 ALPL
40 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.4
41 dentin dysplasia 10.4 SPP1 MSX2 IBSP
42 hypercementosis 10.4 IBSP ALPL
43 osseous heteroplasia, progressive 10.3 RUNX2 BMP2 BGLAP
44 apert syndrome 10.3 RUNX2 MSX2 IHH
45 hypertelorism, microtia, facial clefting syndrome 10.3 TNFSF11 MSX2
46 arterial calcification of infancy 10.3 SPP1 RUNX2 MSX2 ALPL
47 fibrodysplasia ossificans progressiva 10.3 SP7 RUNX2 BMP2
48 fibrosarcomatous osteosarcoma 10.3 DLX5 BGLAP
49 phosphorus metabolism disease 10.3 SPP1 RUNX2 BGLAP ALPL
50 syngnathia 10.3 MSX2 DLX5

Graphical network of the top 20 diseases related to Cleidocranial Dysplasia 1:



Diseases related to Cleidocranial Dysplasia 1

Symptoms & Phenotypes for Cleidocranial Dysplasia 1

Human phenotypes related to Cleidocranial Dysplasia 1:

58 30 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
2 skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002652
3 hypoplastic inferior ilia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008821
4 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
5 recurrent respiratory infections 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002205
6 carious teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000670
7 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
8 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
9 high, narrow palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002705
10 hypoplasia of the zygomatic bone 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010669
11 down-sloping shoulders 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200021
12 large fontanelles 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000239
13 narrow chest 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000774
14 wormian bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002645
15 sloping forehead 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000340
16 short clavicles 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000894
17 supernumerary tooth 30 Hallmark (90%) HP:0011069
18 abnormal dental enamel morphology 30 Hallmark (90%) HP:0000682
19 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
20 depressed nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0005280
21 chronic otitis media 58 30 Frequent (33%) Frequent (79-30%)
HP:0000389
22 open bite 58 30 Frequent (33%) Frequent (79-30%)
HP:0010807
23 mandibular prognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000303
24 sinusitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000246
25 osteoporosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000939
26 brachydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001156
27 delayed eruption of teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000684
28 spina bifida occulta 58 30 Frequent (33%) Frequent (79-30%)
HP:0003298
29 midface retrusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0011800
30 abnormal sacrum morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0005107
31 short face 58 30 Frequent (33%) Frequent (79-30%)
HP:0011219
32 decreased skull ossification 58 30 Frequent (33%) Frequent (79-30%)
HP:0004331
33 abnormal metacarpal morphology 30 Frequent (33%) HP:0005916
34 dimple chin 30 Frequent (33%) HP:0010751
35 abnormal rib morphology 30 Frequent (33%) HP:0000772
36 macrocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000256
37 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
38 sleep apnea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010535
39 brachycephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000248
40 genu valgum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002857
41 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
42 clinodactyly of the 5th finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004209
43 recurrent fractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002757
44 broad forehead 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000337
45 glossoptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000162
46 coxa vara 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002812
47 tapered finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001182
48 dystrophic toenail 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001810
49 hypoplastic scapulae 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000882
50 abnormal thumb morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001172

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Face:
frontal bossing
micrognathia
midface hypoplasia
metopic groove

Head And Neck Eyes:
hypertelorism

Skeletal Hands:
brachydactyly
long second metacarpal
short middle phalanges of second and fifth fingers
cone-shaped phalangeal epiphyses

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

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

Skeletal Spine:
scoliosis
kyphosis
spondylolisthesis
spondylolysis

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

Skeletal Skull:
wormian bones
hypoplastic frontal sinuses
absent frontal sinuses
absent paranasal sinuses
large foramen magnum
more
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Cleidocranial Dysplasia 1:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.37 ALPL BMP2 CBFB COL10A1 DLX3 DLX5
2 limbs/digits/tail MP:0005371 10.32 ALPL BMP2 CBFB COL10A1 DLX5 IBSP
3 nervous system MP:0003631 10.28 ALPL BMP2 CBFB COL10A1 DLX5 IHH
4 craniofacial MP:0005382 10.25 ALPL BMP2 CBFB COL10A1 DLX5 IBSP
5 endocrine/exocrine gland MP:0005379 10.22 ALPL BGLAP CBFB COL10A1 DLX3 IHH
6 muscle MP:0005369 10.18 ALPL DLX5 IHH MSX2 RUNX2 RUNX3
7 cellular MP:0005384 10.15 ALPL BGLAP BMP2 CBFB COL10A1 DLX5
8 digestive/alimentary MP:0005381 10.13 ALPL BMP2 CBFB DLX5 IBSP IHH
9 embryo MP:0005380 10.11 ALPL BMP2 CBFB DLX3 DLX5 IHH
10 immune system MP:0005387 10.1 ALPL BGLAP BMP2 CBFB COL10A1 IBSP
11 skeleton MP:0005390 10.06 ALPL BGLAP BMP2 CBFB COL10A1 DLX5
12 respiratory system MP:0005388 10 ALPL CBFB DLX5 IHH NELL1 RUNX2
13 hematopoietic system MP:0005397 9.77 ALPL BGLAP BMP2 CBFB COL10A1 IBSP
14 mortality/aging MP:0010768 9.53 ALPL BMP2 CBFB COL10A1 DLX3 DLX5

Drugs & Therapeutics for Cleidocranial Dysplasia 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cleidocranial Dysplasia (CCD): From Genotype to Phenotype and Considerations for Care Enrolling by invitation NCT05368064

Search NIH Clinical Center for Cleidocranial Dysplasia 1

Cochrane evidence based reviews: cleidocranial dysplasia

Genetic Tests for Cleidocranial Dysplasia 1

Genetic tests related to Cleidocranial Dysplasia 1:

# Genetic test Affiliating Genes
1 Cleidocranial Dysostosis 28 RUNX2
2 Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 28
3 Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 28

Anatomical Context for Cleidocranial Dysplasia 1

Organs/tissues related to Cleidocranial Dysplasia 1:

FMA: Clavicle, Skull
MalaCards : Bone, Bone Marrow, Myeloid, Uterus, Spleen, Kidney, Heart

Publications for Cleidocranial Dysplasia 1

Articles related to Cleidocranial Dysplasia 1:

(show top 50) (show all 1006)
# Title Authors PMID Year
1
Dysregulation of chondrogenesis in human cleidocranial dysplasia. 53 62 57 5
15952089 2005
2
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 53 62 57 5
10545612 1999
3
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. 62 57 5
12424590 2002
4
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 62 57 5
9182765 1997
5
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. 53 62 57
20014132 2010
6
Novel RUNX2 mutations in Chinese individuals with cleidocranial dysplasia. 53 62 5
19767586 2009
7
A Runx2 threshold for the cleidocranial dysplasia phenotype. 53 62 57
19028669 2009
8
Severe cleidocranial dysplasia can mimic hypophosphatasia. 53 62 57
12424591 2002
9
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey. 62 5
33987976 2021
10
Identification of RUNX2 variants associated with cleidocranial dysplasia. 62 5
31548836 2019
11
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 62 5
28738062 2017
12
Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia. 62 5
20702542 2010
13
The presence of germ line mosaicism in cleidocranial dysplasia. 62 57
17539909 2007
14
Clarification of data reported in "cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group" (AJMG 139A:78-85). 62 57
16575894 2006
15
Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group. 62 57
16222673 2005
16
Cleidocranial dysplasia with new additional findings. 62 57
15287425 2004
17
New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia. 62 5
12081718 2002
18
A natural history of cleidocranial dysplasia. 62 57
11746020 2001
19
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 62 5
10521292 1999
20
Cleidocranial dysplasia: clinical and molecular genetics. 62 57
10204840 1999
21
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 62 5
9207800 1997
22
Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism? 62 57
9098480 1997
23
Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. 62 57
8782054 1996
24
Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. 62 57
8533817 1995
25
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. 62 57
7717404 1995
26
Cleidocranial dysplasia associated with a t(6;18)(p12;q24) translocation. 62 57
7747775 1995
27
Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. 62 57
7711736 1995
28
Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh). 62 57
8270769 1993
29
Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna. 62 57
8279481 1993
30
Abnormal ossification of the hyoid bone in cleidocranial dysplasia. 62 57
8348356 1993
31
Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia. 62 57
8362902 1993
32
Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. 62 57
1605259 1992
33
Intrafamilial variability in cleidocranial dysplasia: a three generation family. 62 57
1536165 1992
34
Somatic development in cleidocranial dysplasia. 62 57
2301472 1990
35
Animal model: skeletal anomalies in mice with cleidocranial dysplasia. 62 57
3605208 1987
36
Cleidocranial dysostosis and syringomyelia. Review of the literature and case report. 62 57
3791747 1987
37
Mandibular prognathism and apertognathia associated with cleidocranial dysostosis in a father and son. 62 57
271922 1977
38
Evidence for an autosomal recessive form of cleidocranial dysostosis. 62 57
1149318 1975
39
Cleidocranial dysostosis. 62 57
13930107 1963
40
Cleidocranial dysostosis. Report of six typical cases and one atypical case. 62 57
14453327 1962
41
The inheritance of cleidocranial dysostosis. 62 57
20285001 1946
42
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication. 5
29891876 2018
43
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 5
26380986 2015
44
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. 5
23290074 2013
45
A genetic linkage map of the mouse: current applications and future prospects. 57
8211130 1993
46
Gamma-ray-induced dominant mutations that cause skeletal abnormalities in mice. II. Description of proved mutations. 57
692541 1978
47
Familial generalized delayed eruption of the dentition with short stature. 57
1062752 1976
48
Osteo-dental dysplasia (cleido-cranial dysostosis); the "Arnold head". 57
14818746 1951
49
The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta. 53 62
20225274 2010
50
[Two novel RUNX2 gene mutations in two Chinese families with cleidocranial dysplasia]. 53 62
20376792 2010

Variations for Cleidocranial Dysplasia 1

ClinVar genetic disease variations for Cleidocranial Dysplasia 1:

5 (show top 50) (show all 155)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RUNX2, LOC109611589 NM_001024630.4(RUNX2):c.189_203delinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG (p.Glu72fs) INDEL Pathogenic
9295 rs730880313 GRCh37: 6:45390460-45390474
GRCh38: 6:45422723-45422737
2 RUNX2 NM_001024630.4(RUNX2):c.891G>A (p.Trp297Ter) SNV Pathogenic
9296 rs104893988 GRCh37: 6:45480014-45480014
GRCh38: 6:45512277-45512277
3 RUNX2 NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg) SNV Pathogenic
9298 rs104893989 GRCh37: 6:45399700-45399700
GRCh38: 6:45431963-45431963
4 RUNX2 NM_001024630.4(RUNX2):c.572G>A (p.Ser191Asn) SNV Pathogenic
9299 rs104893990 GRCh37: 6:45399748-45399748
GRCh38: 6:45432011-45432011
5 RUNX2 NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) SNV Pathogenic
9302 rs104893991 GRCh37: 6:45405777-45405777
GRCh38: 6:45438040-45438040
6 RUNX2 NM_001024630.4(RUNX2):c.1565G>C (p.Ter522Ser) SNV Pathogenic
9305 rs104893994 GRCh37: 6:45515041-45515041
GRCh38: 6:45547304-45547304
7 RUNX2 NM_001024630.4(RUNX2):c.506G>C (p.Arg169Pro) SNV Pathogenic
9306 rs104893995 GRCh37: 6:45399682-45399682
GRCh38: 6:45431945-45431945
8 RUNX2 NM_001024630.4(RUNX2):c.1228dup (p.Leu410fs) DUP Pathogenic
9307 rs730880315 GRCh37: 6:45514701-45514702
GRCh38: 6:45546964-45546965
9 RUNX2 NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter) SNV Pathogenic
65625 rs397515537 GRCh37: 6:45514647-45514647
GRCh38: 6:45546910-45546910
10 RUNX2 NM_001024630.4(RUNX2):c.476G>A (p.Gly159Asp) SNV Pathogenic
208165 rs864621970 GRCh37: 6:45399652-45399652
GRCh38: 6:45431915-45431915
11 RUNX2 SNV Pathogenic
437934 GRCh37:
GRCh38: 6:45512244-45512244
12 RUNX2 NM_001024630.4(RUNX2):c.738C>T (p.Leu246=) SNV Pathogenic
694720 rs1582169095 GRCh37: 6:45459730-45459730
GRCh38: 6:45491993-45491993
13 RUNX2 NM_001024630.4(RUNX2):c.371C>A (p.Ser124Ter) SNV Pathogenic
802220 rs1582095109 GRCh37: 6:45390642-45390642
GRCh38: 6:45422905-45422905
14 RUNX2 NM_001024630.4(RUNX2):c.577C>T (p.Arg193Ter) SNV Pathogenic
829868 rs1582105417 GRCh37: 6:45399753-45399753
GRCh38: 6:45432016-45432016
15 RUNX2 NM_001024630.4(RUNX2):c.1191del (p.Phe398fs) DEL Pathogenic
978473 rs1802417423 GRCh37: 6:45514666-45514666
GRCh38: 6:45546929-45546929
16 RUNX2 NM_001024630.4(RUNX2):c.1281del (p.Gly428fs) DEL Pathogenic
916705 rs1802421481 GRCh37: 6:45514754-45514754
GRCh38: 6:45547017-45547017
17 RUNX2 NM_001024630.4(RUNX2):c.443_454delinsG (p.Val148fs) INDEL Pathogenic
916706 rs1798551566 GRCh37: 6:45399619-45399630
GRCh38: 6:45431882-45431893
18 RUNX2, SUPT3H NM_001024630.4(RUNX2):c.29dup (p.Thr11fs) DUP Pathogenic
916707 rs1786864520 GRCh37: 6:45296491-45296492
GRCh38: 6:45328754-45328755
19 RUNX2 NM_001024630.4(RUNX2):c.594_595delinsG (p.Thr198_Leu199insTer) INDEL Pathogenic
916708 rs1798733144 GRCh37: 6:45405697-45405698
GRCh38: 6:45437960-45437961
20 RUNX2 NM_001024630.4(RUNX2):c.636dup (p.Tyr213fs) DUP Pathogenic
978698 rs1798735440 GRCh37: 6:45405737-45405738
GRCh38: 6:45438000-45438001
21 RUNX2 NM_001024630.4(RUNX2):c.1081C>T (p.Gln361Ter) SNV Pathogenic
1185697 GRCh37: 6:45513013-45513013
GRCh38: 6:45545276-45545276
22 RUNX2 NM_001024630.4(RUNX2):c.901C>T (p.Gln301Ter) SNV Pathogenic
1185698 GRCh37: 6:45480024-45480024
GRCh38: 6:45512287-45512287
23 RUNX2 NM_001024630.4(RUNX2):c.739del (p.Ser247fs) DEL Pathogenic
1185699 GRCh37: 6:45459731-45459731
GRCh38: 6:45491994-45491994
24 RUNX2 NM_001024630.4(RUNX2):c.581-1G>A SNV Pathogenic
1686134 GRCh37: 6:45405683-45405683
GRCh38: 6:45437946-45437946
25 RUNX2 NM_001024630.4(RUNX2):c.407_411del (p.Leu136fs) DEL Pathogenic
1691336 GRCh37: 6:45390675-45390679
GRCh38: 6:45422938-45422942
26 RUNX2 NM_001024630.4(RUNX2):c.884del (p.Pro295fs) DEL Pathogenic
1698804 GRCh37: 6:45480004-45480004
GRCh38: 6:45512267-45512267
27 RUNX2 NM_001024630.4(RUNX2):c.506G>A (p.Arg169Gln) SNV Pathogenic
1698843 GRCh37: 6:45399682-45399682
GRCh38: 6:45431945-45431945
28 RUNX2 NM_001024630.4(RUNX2):c.360C>A (p.Asn120Lys) SNV Pathogenic
1708145 GRCh37: 6:45390631-45390631
GRCh38: 6:45422894-45422894
29 RUNX2 NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp) SNV Pathogenic
9303 rs104893992 GRCh37: 6:45405776-45405776
GRCh38: 6:45438039-45438039
30 RUNX2 NM_001024630.4(RUNX2):c.424-1G>C SNV Pathogenic
1712334 GRCh37: 6:45399599-45399599
GRCh38: 6:45431862-45431862
31 RUNX2 NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala) SNV Pathogenic
9304 rs104893993 GRCh37: 6:45405701-45405701
GRCh38: 6:45437964-45437964
32 RUNX2 NM_001024630.4(RUNX2):c.539C>A (p.Ala180Glu) SNV Pathogenic
1175725 GRCh37: 6:45399715-45399715
GRCh38: 6:45431978-45431978
33 RUNX2 NM_001024630.4(RUNX2):c.1205dup (p.Pro403fs) DUP Pathogenic
9301 rs730880314 GRCh37: 6:45514677-45514678
GRCh38: 6:45546940-45546941
34 RUNX2 NM_001024630.4(RUNX2):c.1379dup (p.Asp463fs) DUP Pathogenic
9300 rs1582232661 GRCh37: 6:45514853-45514854
GRCh38: 6:45547116-45547117
35 RUNX2 NM_001024630.4(RUNX2):c.483_485del (p.Asp161del) DEL Likely Pathogenic
1162204 GRCh37: 6:45399657-45399659
GRCh38: 6:45431920-45431922
36 RUNX2, LOC109611589 NM_001024630.4(RUNX2):c.203delinsCG (p.Gln68fs) INDEL Likely Pathogenic
916702 rs1798243790 GRCh37: 6:45390474-45390474
GRCh38: 6:45422737-45422737
37 RUNX2 NM_001024630.4(RUNX2):c.505C>T (p.Arg169Trp) SNV Likely Pathogenic
916703 rs1203066173 GRCh37: 6:45399681-45399681
GRCh38: 6:45431944-45431944
38 RUNX2 NM_001024630.4(RUNX2):c.1088G>T (p.Gly363Val) SNV Likely Pathogenic
916704 rs1802414251 GRCh37: 6:45514564-45514564
GRCh38: 6:45546827-45546827
39 RUNX2 NM_001024630.4(RUNX2):c.423+2del DEL Likely Pathogenic
978697 rs1798262516 GRCh37: 6:45390696-45390696
GRCh38: 6:45422959-45422959
40 RUNX2 NM_001024630.4(RUNX2):c.569G>A (p.Arg190Gln) SNV Likely Pathogenic
381546 rs1057521068 GRCh37: 6:45399745-45399745
GRCh38: 6:45432008-45432008
41 RUNX2 NM_001024630.4(RUNX2):c.90del (p.Ser31fs) DEL Likely Pathogenic
929063 rs397515538 GRCh37: 6:45390355-45390355
GRCh38: 6:45422618-45422618
42 RUNX2, LOC109611589 NM_001024630.4(RUNX2):c.211C>T (p.Gln71Ter) SNV Likely Pathogenic
976311 rs774631263 GRCh37: 6:45390482-45390482
GRCh38: 6:45422745-45422745
43 RUNX2 NM_001024630.4(RUNX2):c.523A>G (p.Met175Val) SNV Conflicting Interpretations Of Pathogenicity
911156 rs201647225 GRCh37: 6:45399699-45399699
GRCh38: 6:45431962-45431962
44 RUNX2 NM_001024630.4(RUNX2):c.298C>A (p.Arg100Ser) SNV Uncertain Significance
911154 rs754711247 GRCh37: 6:45390569-45390569
GRCh38: 6:45422832-45422832
45 RUNX2 NM_001024630.4(RUNX2):c.481G>A (p.Asp161Asn) SNV Uncertain Significance
911155 rs1477047335 GRCh37: 6:45399657-45399657
GRCh38: 6:45431920-45431920
46 RUNX2 NM_001024630.4(RUNX2):c.685+5G>A SNV Uncertain Significance
916701 rs1798738030 GRCh37: 6:45405793-45405793
GRCh38: 6:45438056-45438056
47 RUNX2 NM_001024630.4(RUNX2):c.*1174A>C SNV Uncertain Significance
911224 rs765793000 GRCh37: 6:45516216-45516216
GRCh38: 6:45548479-45548479
48 RUNX2 NM_001024630.4(RUNX2):c.*1376C>T SNV Uncertain Significance
911225 rs1253474691 GRCh37: 6:45516418-45516418
GRCh38: 6:45548681-45548681
49 RUNX2 NM_001024630.4(RUNX2):c.613A>G (p.Thr205Ala) SNV Uncertain Significance
911356 rs762910660 GRCh37: 6:45405716-45405716
GRCh38: 6:45437979-45437979
50 RUNX2 NM_001024630.4(RUNX2):c.938C>A (p.Pro313Gln) SNV Uncertain Significance
911357 rs535706340 GRCh37: 6:45480061-45480061
GRCh38: 6:45512324-45512324

UniProtKB/Swiss-Prot genetic disease variations for Cleidocranial Dysplasia 1:

73 (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 rs1057521068
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 1 from CNVD:

6
# CNVD ID Chromosome 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 1

Search GEO for disease gene expression data for Cleidocranial Dysplasia 1.

Pathways for Cleidocranial Dysplasia 1

Pathways related to Cleidocranial Dysplasia 1 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 SPP1 SP7 SOX9 RUNX3 RUNX2 MSX2
2
Show member pathways
11.8 SPP1 RUNX3 RUNX2
3
Show member pathways
11.8 SPP1 SOX9 RUNX3 RUNX2 IHH COL10A1
4 11.74 SOX9 MSX2 DLX5
5
Show member pathways
11.69 SPP1 RUNX2 BMP2
6 11.61 TNFSF11 SP7 RUNX2 BMP2
7 11.48 SPP1 SP7 SOX9 RUNX2 MSX2 BMP2
9
Show member pathways
11.44 SP7 RUNX2 IHH CBFB BGLAP
10 11.4 SPP1 RUNX2 BGLAP
11 11.3 RUNX2 IBSP BGLAP
12 11.28 TNFSF11 SPP1 RUNX2 BGLAP
13 11.15 SP7 RUNX2 ALPL
14 11.04 BMP2 IHH SOX9
16 10.69 TNFSF11 SPP1 RUNX2 IHH IBSP BGLAP
17 10.62 RUNX2 BMP2
18
Show member pathways
10.57 RUNX2 CBFB

GO Terms for Cleidocranial Dysplasia 1

Cellular components related to Cleidocranial Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 core-binding factor complex GO:0016513 8.92 RUNX3 CBFB

Biological processes related to Cleidocranial Dysplasia 1 according to GeneCards Suite gene sharing:

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.55 TNFSF11 SP7 SOX9 RUNX2 IHH DLX5
2 positive regulation of DNA-templated transcription GO:0045893 10.46 BMP2 CBFB DLX5 RUNX2 RUNX3 SOX9
3 regulation of DNA-templated transcription GO:0006355 10.38 SUPT3H SOX9 RUNX3 RUNX2 MSX2 DLX5
4 cell differentiation GO:0030154 10.33 TNFSF11 SPP1 SOX9 RUNX2 NELL1 DLX5
5 positive regulation of epithelial cell proliferation GO:0050679 10.18 SOX9 RUNX2 IHH DLX5
6 positive regulation of osteoblast differentiation GO:0045669 10.17 BMP2 MSX2 NELL1 RUNX2
7 odontogenesis of dentin-containing tooth GO:0042475 10.14 RUNX2 DLX3 BMP2
8 stem cell differentiation GO:0048863 10.13 RUNX2 MSX2 BGLAP
9 cell maturation GO:0048469 10.09 RUNX2 IHH CBFB
10 BMP signaling pathway GO:0030509 10.09 RUNX2 MSX2 DLX5 DLX3 BMP2
11 bone development GO:0060348 10.08 TNFSF11 BMP2 BGLAP
12 endochondral ossification GO:0001958 10.08 RUNX2 DLX5 ALPL
13 response to organic cyclic compound GO:0014070 10.08 ALPL BGLAP SOX9 SP7
14 gene expression GO:0010467 10.08 SP7 SOX9 RUNX2 DLX3 BMP2
15 cellular response to BMP stimulus GO:0071773 10.06 SOX9 RUNX2 DLX5 BMP2
16 regulation of cell differentiation GO:0045595 10.04 SOX9 RUNX3 RUNX2
17 skeletal system development GO:0001501 10.03 ALPL BGLAP BMP2 COL10A1 DLX5 IHH
18 response to vitamin D GO:0033280 10.02 SPP1 BGLAP ALPL
19 osteoblast development GO:0002076 10.01 RUNX2 MSX2 BGLAP
20 mesenchymal cell apoptotic process GO:0097152 9.99 SOX9 MSX2
21 cellular response to growth factor stimulus GO:0071363 9.99 MSX2 IBSP BMP2 BGLAP
22 positive regulation of epithelial cell differentiation GO:0030858 9.98 SOX9 BMP2
23 proteoglycan metabolic process GO:0006029 9.97 IHH BMP2
24 cellular response to zinc ion starvation GO:0034224 9.97 SP7 BGLAP
25 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.97 BMP2 DLX5 RUNX2
26 chondrocyte differentiation GO:0002062 9.97 SOX9 RUNX3 RUNX2 IHH BMP2
27 response to sodium phosphate GO:1904383 9.96 RUNX2 ALPL
28 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.96 BMP2 RUNX2
29 BMP signaling pathway involved in heart development GO:0061312 9.96 BMP2 MSX2
30 chondrocyte development GO:0002063 9.96 SOX9 RUNX2 MSX2
31 bone mineralization GO:0030282 9.96 SOX9 IBSP BMP2 BGLAP ALPL
32 positive regulation of CD8-positive, alpha-beta T cell differentiation GO:0043378 9.94 RUNX3 CBFB
33 chondrocyte differentiation involved in endochondral bone morphogenesis GO:0003413 9.93 SOX9 IHH
34 negative regulation of CD4-positive, alpha-beta T cell differentiation GO:0043371 9.93 CBFB RUNX3
35 cementum mineralization GO:0071529 9.92 ALPL SP7
36 cartilage development GO:0051216 9.92 SOX9 MSX2 IHH BMP2
37 response to macrophage colony-stimulating factor GO:0036005 9.85 ALPL BGLAP SPP1
38 ossification GO:0001503 9.83 BGLAP BMP2 CBFB DLX5 IBSP IHH
39 biomineral tissue development GO:0031214 9.8 SPP1 IBSP BGLAP ALPL
40 embryo development GO:0009790 9.68 DLX5 DLX3
41 osteoblast differentiation GO:0001649 9.66 ALPL BGLAP BMP2 CBFB DLX5 IBSP

Molecular functions related to Cleidocranial Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 9.4 SOX9 RUNX3 RUNX2 MSX2 DLX5 DLX3

Sources for Cleidocranial Dysplasia 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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