CMDD
MCID: CRN052
MIFTS: 49

Craniometaphyseal Dysplasia, Autosomal Dominant (CMDD)

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

Aliases & Classifications for Craniometaphyseal Dysplasia, Autosomal Dominant

MalaCards integrated aliases for Craniometaphyseal Dysplasia, Autosomal Dominant:

Name: Craniometaphyseal Dysplasia, Autosomal Dominant 58 25 54 76 30 6 74
Craniometaphyseal Dysplasia 58 12 25 26 60 38 30 13 6 15
Cmdd 58 54 26 76
Cmdj 58 54 26 76
Cmd 58 54 26
Craniometaphyseal Dysplasia, Jackson Type 58 26
Craniometaphyseal Dysplasia Jackson Type 54 76
Craniometaphyseal Dysplasia, Autosomal Recessive Type 74
Dysplasia, Craniometaphyseal, Autosomal Recessive 41
Dysplasia, Craniometaphyseal, Autosomal Dominant 41
Craniometaphyseal Dysplasia, Jackson Type; Cmdj 58
Autosomal Recessive Craniometaphyseal Dysplasia 26
Autosomal Dominant Craniometaphyseal Dysplasia 26
Jackson Type 25
Cmdr 26

Characteristics:

Orphanet epidemiological data:

60
craniometaphyseal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
see )


HPO:

33
craniometaphyseal dysplasia, autosomal dominant:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is close to 100% in both genders. males and females are equally affected...

Classifications:



Summaries for Craniometaphyseal Dysplasia, Autosomal Dominant

NIH Rare Diseases : 54 Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves. If untreated, compression of the cranial nerves can be disabling. The condition is caused by mutations in the ANKH gene. As the name suggests, it is inherited in an autosomal dominant manner. Treatment may include surgery to reduce compression of cranial nerves and recontouring of the facial bones. 

MalaCards based summary : Craniometaphyseal Dysplasia, Autosomal Dominant, also known as craniometaphyseal dysplasia, is related to chondrocalcinosis 2 and chondrocalcinosis. An important gene associated with Craniometaphyseal Dysplasia, Autosomal Dominant is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator). Affiliated tissues include bone, b cells and skull, and related phenotypes are hypertelorism and craniofacial hyperostosis

Disease Ontology : 12 An osteosclerosis that has material basis in mutations in the ANKH gene which results in progressive thickening located in skull and abnormally shaped ends of long bones in the limbs.

Genetics Home Reference : 26 Craniometaphyseal dysplasia is a rare condition characterized by thickening (overgrowth) of bones in the skull (cranium) and abnormalities in a region at the end of long bones known as the metaphysis. The abnormal bone growth continues throughout life. Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal.

OMIM : 58 Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997). The delineation of separate autosomal dominant and autosomal recessive (CMDR; 218400) forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous. (123000)

UniProtKB/Swiss-Prot : 76 Craniometaphyseal dysplasia, autosomal dominant: An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy.

Wikipedia : 77 Craniometaphyseal dysplasia is a rare skeletal disorder that results from a mutation in the ANKH or GJA1... more...

GeneReviews: NBK1461

Related Diseases for Craniometaphyseal Dysplasia, Autosomal Dominant

Diseases in the Craniometaphyseal Dysplasia, Autosomal Dominant family:

Craniometaphyseal Dysplasia, Autosomal Recessive

Diseases related to Craniometaphyseal Dysplasia, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 2 30.6 ANKH OTULIN
2 chondrocalcinosis 30.3 ANKH OTULIN
3 ankylosis 30.1 ACVR1 ANKH SP7
4 muscular dystrophy, congenital, lmna-related 12.2
5 muscular dystrophy, congenital, merosin-positive 11.5
6 cardiomyopathy, dilated, 1a 11.3
7 collagen vi related muscular dystrophy 11.2
8 congenital muscular dystrophy with cerebellar involvement 11.2
9 congenital muscular dystrophy with intellectual disability 11.2
10 congenital muscular dystrophy without intellectual disability 11.2
11 craniometaphyseal dysplasia, autosomal recessive 11.2
12 campomelic dysplasia 11.0
13 barth syndrome 11.0
14 cardiomyopathy, dilated, 2c 11.0
15 muscular dystrophy-dystroglycanopathy , type a, 4 11.0
16 salih myopathy 11.0
17 congenital disorder of glycosylation, type iu 11.0
18 muscular dystrophy-dystroglycanopathy 11.0
19 congenital muscular dystrophy due to dystroglycanopathy 11.0
20 dpm2-cdg 11.0
21 muscular dystrophy 10.5
22 vaccinia 10.4
23 pyle disease 10.3
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
25 osteopetrosis 10.2
26 intracranial hypertension 10.2
27 joint disorders 10.1
28 multiple sclerosis 10.0
29 3-methylglutaconic aciduria, type iii 10.0
30 hydrocephalus 10.0
31 cardiac arrest 10.0
32 rickets 10.0
33 secondary hyperparathyroidism 10.0
34 hyperparathyroidism 10.0
35 hyperostosis 10.0
36 myotonic dystrophy 10.0
37 chiari malformation 10.0
38 frontometaphyseal dysplasia 10.0
39 retinal detachment 10.0
40 cerebellar hypoplasia 10.0
41 muscular dystrophy-dystroglycanopathy , type a, 1 10.0
42 muscular dystrophy-dystroglycanopathy , type b, 1 10.0
43 dilated cardiomyopathy 10.0
44 mantle cell lymphoma 10.0
45 lymphoma 10.0
46 ptosis 10.0
47 synovitis 10.0
48 fibromyalgia 10.0
49 microcephaly 10.0
50 bowenoid papulosis 10.0

Graphical network of the top 20 diseases related to Craniometaphyseal Dysplasia, Autosomal Dominant:



Diseases related to Craniometaphyseal Dysplasia, Autosomal Dominant

Symptoms & Phenotypes for Craniometaphyseal Dysplasia, Autosomal Dominant

Human phenotypes related to Craniometaphyseal Dysplasia, Autosomal Dominant:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 craniofacial hyperostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004493
3 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
4 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
5 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
6 osteopetrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0011002
7 skeletal dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002652
8 telecanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000506
9 facial palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0010628
10 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
11 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
12 conductive hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000405
13 macrocephaly 33 HP:0000256
14 mandibular prognathia 33 HP:0000303
15 abnormality of pelvic girdle bone morphology 33 HP:0002644
16 abnormality of the vertebral column 33 HP:0000925
17 misalignment of teeth 33 HP:0000692
18 abnormality of the cranial nerves 60 Occasional (29-5%)
19 metaphyseal widening 33 HP:0003016
20 sclerosis of skull base 33 HP:0002694
21 mixed hearing impairment 33 HP:0000410
22 nasal obstruction 33 HP:0001742
23 club-shaped distal femur 33 HP:0006384
24 calvarial osteosclerosis 33 HP:0005450
25 bony paranasal bossing 33 HP:0004407
26 abnormality of the nasopharynx 33 HP:0001739
27 erlenmeyer flask deformity of the femurs 33 HP:0004975

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Head And Neck Face:
facial palsy
prognathism

Skeletal Spine:
normal spine

Head And Neck Ears:
mixed hearing loss

Head And Neck Teeth:
teeth malalignment

Skeletal Skull:
sclerotic skull base
sclerotic calvarium
obliteration of sinuses

Skeletal Limbs:
widened metaphyses
'erlenmeyer flask' deformity of distal femur (childhood)
club-shaped distal femur (adulthood)

Head And Neck Eyes:
hypertelorism

Neurologic Central Nervous System:
facial palsy

Growth Height:
normal stature

Head And Neck Nose:
bony paranasal bossing (often regresses with age)

Respiratory Nasopharynx:
nasal obstruction leading to mouth breathing

Skeletal Pelvis:
normal pelvis

Clinical features from OMIM:

123000

MGI Mouse Phenotypes related to Craniometaphyseal Dysplasia, Autosomal Dominant:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.08 ACVR1 ANKH BMP1 COL10A1 DLL3 GJA1
2 cellular MP:0005384 10.04 ACVR1 ANKH ATP6V0D2 COL10A1 GJA1 OTULIN
3 growth/size/body region MP:0005378 10.03 ACVR1 ANKH BMP1 COL10A1 DLL3 GJA1
4 cardiovascular system MP:0005385 9.99 ACVR1 ANKH BMP1 GJA1 MSX2 OTULIN
5 embryo MP:0005380 9.93 ACVR1 BMP1 DLL3 GJA1 MSX2 OTULIN
6 hematopoietic system MP:0005397 9.91 ANKH ATP6V0D2 BMP1 COL10A1 GJA1 MSX2
7 immune system MP:0005387 9.87 ACVR1 ANKH ATP6V0D2 BMP1 COL10A1 GJA1
8 limbs/digits/tail MP:0005371 9.86 ACVR1 ANKH BMP1 COL10A1 DLL3 GJA1
9 mortality/aging MP:0010768 9.81 ACVR1 ANKH BMP1 COL10A1 DLL3 GJA1
10 hearing/vestibular/ear MP:0005377 9.8 ACVR1 ANKH DLL3 GJA1 MSX2
11 muscle MP:0005369 9.43 ACVR1 ANKH BMP1 DLL3 GJA1 MSX2
12 skeleton MP:0005390 9.32 ACVR1 ANKH ATP6V0D2 BMP1 COL10A1 DLL3

Drugs & Therapeutics for Craniometaphyseal Dysplasia, Autosomal Dominant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) Recruiting NCT01630460

Search NIH Clinical Center for Craniometaphyseal Dysplasia, Autosomal Dominant

Genetic Tests for Craniometaphyseal Dysplasia, Autosomal Dominant

Genetic tests related to Craniometaphyseal Dysplasia, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Craniometaphyseal Dysplasia, Autosomal Dominant 30 ANKH
2 Craniometaphyseal Dysplasia 30

Anatomical Context for Craniometaphyseal Dysplasia, Autosomal Dominant

MalaCards organs/tissues related to Craniometaphyseal Dysplasia, Autosomal Dominant:

42
Bone, B Cells

The Foundational Model of Anatomy Ontology organs/tissues related to Craniometaphyseal Dysplasia, Autosomal Dominant:

20
Skull

Publications for Craniometaphyseal Dysplasia, Autosomal Dominant

Articles related to Craniometaphyseal Dysplasia, Autosomal Dominant:

(show top 50) (show all 98)
# Title Authors Year
1
Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia. ( 30356088 )
2018
2
Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia. ( 29444796 )
2018
3
Craniometaphyseal dysplasia: Report of 2 cases with an emphasis on panoramic imaging features. ( 30607353 )
2018
4
Craniometaphyseal Dysplasia: A review and novel oral manifestation. ( 28706789 )
2017
5
Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts. ( 29056330 )
2017
6
An atypical case of craniometaphyseal dysplasia. Case report and surgical treatment. ( 29299192 )
2017
7
Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features. ( 26820766 )
2016
8
Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis. ( 27594963 )
2016
9
Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia. ( 27784318 )
2016
10
Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature. ( 25890400 )
2015
11
Dental Anomalies Associated with Craniometaphyseal Dysplasia. ( 24663682 )
2014
12
Infant with persistent nasal obstruction. Craniometaphyseal dysplasia (CMD). ( 25188335 )
2014
13
Chiari type I malformation caused by craniometaphyseal dysplasia. ( 24356723 )
2013
14
Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia. ( 24219578 )
2013
15
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. ( 23951358 )
2013
16
Craniometaphyseal dysplasia. ( 23529266 )
2013
17
Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia. ( 23421944 )
2013
18
Dental abnormalities in a mouse model for craniometaphyseal dysplasia. ( 23160629 )
2013
19
Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia. ( 22150416 )
2012
20
Enabling an unimpeded surgical approach to the skull base in patients with cranial hyperostosis, exemplarily demonstrated for craniometaphyseal dysplasia. ( 21495823 )
2011
21
Intracranial hypertension in two cases of craniometaphyseal dysplasia: differing surgical options. ( 21806345 )
2011
22
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. ( 21465646 )
2011
23
Cardiopulmonary arrest caused by craniometaphyseal dysplasia. ( 21328078 )
2011
24
Craniometaphyseal dysplasia unnoticed until 19 years of age: First diagnosed from facial nerve paralysis. ( 21227606 )
2011
25
A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD). ( 21149338 )
2011
26
Craniometaphyseal dysplasia-induced hearing loss. ( 20351609 )
2011
27
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. ( 20358596 )
2010
28
Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia. ( 20186813 )
2010
29
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. ( 19449425 )
2009
30
Craniometaphyseal dysplasia: a case report. ( 19426903 )
2009
31
Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia. ( 19257826 )
2009
32
Chiari malformation caused by craniometaphyseal dysplasia: case report and review of literature. ( 18493899 )
2008
33
Foramen magnum decompression and expansile duroplasty for acquired Chiari type I malformation in craniometaphyseal dysplasia. ( 18224526 )
2008
34
Optic nerve sheath fenestration and bilateral expansile cranioplasty for raised intracranial pressure in craniometaphyseal dysplasia: a case report. ( 18205007 )
2008
35
Progressive facial disfigurement and deafness in craniometaphyseal dysplasia. ( 17202639 )
2006
36
Craniofacial surgery for craniometaphyseal dysplasia. ( 16679657 )
2006
37
Craniometaphyseal dysplasia. ( 16012045 )
2005
38
Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome. ( 15533982 )
2004
39
Craniometaphyseal dysplasia: ophthalmic features and management. ( 12908537 )
2003
40
Craniometaphyseal dysplasia: a case report and review of medical and surgical management. ( 12745166 )
2003
41
Craniometaphyseal dysplasia: a case report and review of medical and surgical management. ( 12560153 )
2003
42
Autosomal dominant craniometaphyseal dysplasia with atypical features. ( 11987949 )
2002
43
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. ( 11326272 )
2001
44
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. ( 11326338 )
2001
45
Refinement of the chromosome 5p locus for craniometaphyseal dysplasia. ( 11409866 )
2001
46
Tooth eruption in a patient with craniometaphyseal dysplasia: case report. ( 11016689 )
2000
47
Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. ( 11146471 )
2000
48
Craniometaphyseal dysplasia: case report. ( 11210264 )
2000
49
28-year follow-up of the craniofacial findings in a patient with craniometaphyseal dysplasia. ( 10508997 )
1999
50
Temporal aspects in craniometaphyseal dysplasia: autosomal recessive type. ( 9508244 )
1998

Variations for Craniometaphyseal Dysplasia, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Craniometaphyseal Dysplasia, Autosomal Dominant:

76
# Symbol AA change Variation ID SNP ID
1 ANKH p.Trp292Arg VAR_012192
2 ANKH p.Cys331Arg VAR_012193
3 ANKH p.Gly389Arg VAR_012198 rs28939080

ClinVar genetic disease variations for Craniometaphyseal Dysplasia, Autosomal Dominant:

6 (show top 50) (show all 307)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANKH NM_054027.4(ANKH): c.1129_1131delTTC (p.Phe377del) deletion Pathogenic rs121908405 GRCh37 Chromosome 5, 14716825: 14716827
2 ANKH NM_054027.4(ANKH): c.1129_1131delTTC (p.Phe377del) deletion Pathogenic rs121908405 GRCh38 Chromosome 5, 14716716: 14716718
3 ANKH NM_054027.4(ANKH): c.1165G> A (p.Gly389Arg) single nucleotide variant Pathogenic rs28939080 GRCh37 Chromosome 5, 14713753: 14713753
4 ANKH NM_054027.4(ANKH): c.1165G> A (p.Gly389Arg) single nucleotide variant Pathogenic rs28939080 GRCh38 Chromosome 5, 14713644: 14713644
5 ANKH ANKH, IVS9, A-G, -4 single nucleotide variant Pathogenic
6 ANKH NM_054027.4(ANKH): c.1123_1125delTCC (p.Ser375del) deletion Pathogenic rs121908406 GRCh37 Chromosome 5, 14716831: 14716833
7 ANKH NM_054027.4(ANKH): c.1123_1125delTCC (p.Ser375del) deletion Pathogenic rs121908406 GRCh38 Chromosome 5, 14716722: 14716724
8 ANKH NM_054027.4(ANKH): c.1015T> C (p.Cys339Arg) single nucleotide variant Pathogenic rs267606656 GRCh37 Chromosome 5, 14716941: 14716941
9 ANKH NM_054027.4(ANKH): c.1015T> C (p.Cys339Arg) single nucleotide variant Pathogenic rs267606656 GRCh38 Chromosome 5, 14716832: 14716832
10 ANKH NM_054027.4(ANKH): c.1172T> C (p.Leu391Pro) single nucleotide variant Pathogenic rs267606658 GRCh37 Chromosome 5, 14713746: 14713746
11 ANKH NM_054027.4(ANKH): c.1172T> C (p.Leu391Pro) single nucleotide variant Pathogenic rs267606658 GRCh38 Chromosome 5, 14713637: 14713637
12 ANKH NM_054027.4(ANKH): c.1001T> G (p.Leu334Arg) single nucleotide variant Pathogenic rs267606657 GRCh37 Chromosome 5, 14741946: 14741946
13 ANKH NM_054027.4(ANKH): c.1001T> G (p.Leu334Arg) single nucleotide variant Pathogenic rs267606657 GRCh38 Chromosome 5, 14741837: 14741837
14 ANKH NM_054027.4(ANKH): c.1237G> A (p.Ala413Thr) single nucleotide variant Likely benign rs112513380 GRCh37 Chromosome 5, 14713681: 14713681
15 ANKH NM_054027.4(ANKH): c.1237G> A (p.Ala413Thr) single nucleotide variant Likely benign rs112513380 GRCh38 Chromosome 5, 14713572: 14713572
16 ANKH NM_054027.4(ANKH): c.102G> A (p.Leu34=) single nucleotide variant Benign/Likely benign rs116591972 GRCh37 Chromosome 5, 14769295: 14769295
17 ANKH NM_054027.4(ANKH): c.102G> A (p.Leu34=) single nucleotide variant Benign/Likely benign rs116591972 GRCh38 Chromosome 5, 14769186: 14769186
18 ANKH NM_054027.4(ANKH): c.-87T> A single nucleotide variant Uncertain significance rs886060204 GRCh38 Chromosome 5, 14871534: 14871534
19 ANKH NM_054027.4(ANKH): c.-87T> A single nucleotide variant Uncertain significance rs886060204 GRCh37 Chromosome 5, 14871643: 14871643
20 ANKH NM_054027.4(ANKH): c.-273_-271delCCG deletion Uncertain significance rs531421951 GRCh38 Chromosome 5, 14871718: 14871720
21 ANKH NM_054027.4(ANKH): c.-273_-271delCCG deletion Uncertain significance rs531421951 GRCh37 Chromosome 5, 14871827: 14871829
22 ANKH NM_054027.5(ANKH): c.-273_-271dup duplication Likely benign rs531421951 GRCh38 Chromosome 5, 14871718: 14871720
23 ANKH NM_054027.5(ANKH): c.-273_-271dup duplication Likely benign rs531421951 GRCh37 Chromosome 5, 14871827: 14871829
24 ANKH NM_054027.4(ANKH): c.*5895C> A single nucleotide variant Likely benign rs141264056 GRCh38 Chromosome 5, 14705302: 14705302
25 ANKH NM_054027.4(ANKH): c.*5459C> T single nucleotide variant Likely benign rs79739542 GRCh37 Chromosome 5, 14705847: 14705847
26 ANKH NM_054027.4(ANKH): c.*5459C> T single nucleotide variant Likely benign rs79739542 GRCh38 Chromosome 5, 14705738: 14705738
27 ANKH NM_054027.4(ANKH): c.*5034delA deletion Uncertain significance rs541644826 GRCh37 Chromosome 5, 14706272: 14706272
28 ANKH NM_054027.4(ANKH): c.*5034delA deletion Uncertain significance rs541644826 GRCh38 Chromosome 5, 14706163: 14706163
29 ANKH NM_054027.4(ANKH): c.*4958T> C single nucleotide variant Likely benign rs187771198 GRCh37 Chromosome 5, 14706348: 14706348
30 ANKH NM_054027.4(ANKH): c.*4958T> C single nucleotide variant Likely benign rs187771198 GRCh38 Chromosome 5, 14706239: 14706239
31 ANKH NM_054027.4(ANKH): c.*4268C> A single nucleotide variant Likely benign rs150706862 GRCh37 Chromosome 5, 14707038: 14707038
32 ANKH NM_054027.4(ANKH): c.*4268C> A single nucleotide variant Likely benign rs150706862 GRCh38 Chromosome 5, 14706929: 14706929
33 ANKH NM_054027.4(ANKH): c.*4219T> C single nucleotide variant Likely benign rs147322366 GRCh37 Chromosome 5, 14707087: 14707087
34 ANKH NM_054027.4(ANKH): c.*4219T> C single nucleotide variant Likely benign rs147322366 GRCh38 Chromosome 5, 14706978: 14706978
35 ANKH NM_054027.4(ANKH): c.*3900T> C single nucleotide variant Benign rs76635089 GRCh38 Chromosome 5, 14707297: 14707297
36 ANKH NM_054027.4(ANKH): c.*3900T> C single nucleotide variant Benign rs76635089 GRCh37 Chromosome 5, 14707406: 14707406
37 ANKH NM_054027.4(ANKH): c.*3706G> A single nucleotide variant Benign rs25992 GRCh38 Chromosome 5, 14707491: 14707491
38 ANKH NM_054027.4(ANKH): c.*3706G> A single nucleotide variant Benign rs25992 GRCh37 Chromosome 5, 14707600: 14707600
39 ANKH NM_054027.4(ANKH): c.*3698T> A single nucleotide variant Likely benign rs563873078 GRCh38 Chromosome 5, 14707499: 14707499
40 ANKH NM_054027.4(ANKH): c.*3698T> A single nucleotide variant Likely benign rs563873078 GRCh37 Chromosome 5, 14707608: 14707608
41 ANKH NM_054027.4(ANKH): c.*3420T> C single nucleotide variant Likely benign rs79059123 GRCh38 Chromosome 5, 14707777: 14707777
42 ANKH NM_054027.4(ANKH): c.*3420T> C single nucleotide variant Likely benign rs79059123 GRCh37 Chromosome 5, 14707886: 14707886
43 ANKH NM_054027.4(ANKH): c.*2974G> A single nucleotide variant Likely benign rs182073449 GRCh38 Chromosome 5, 14708223: 14708223
44 ANKH NM_054027.4(ANKH): c.*2974G> A single nucleotide variant Likely benign rs182073449 GRCh37 Chromosome 5, 14708332: 14708332
45 ANKH NM_054027.4(ANKH): c.*2236G> A single nucleotide variant Likely benign rs201439698 GRCh37 Chromosome 5, 14709070: 14709070
46 ANKH NM_054027.4(ANKH): c.*2236G> A single nucleotide variant Likely benign rs201439698 GRCh38 Chromosome 5, 14708961: 14708961
47 ANKH NM_054027.4(ANKH): c.*2200T> C single nucleotide variant Likely benign rs191334359 GRCh37 Chromosome 5, 14709106: 14709106
48 ANKH NM_054027.4(ANKH): c.*2200T> C single nucleotide variant Likely benign rs191334359 GRCh38 Chromosome 5, 14708997: 14708997
49 ANKH NM_054027.4(ANKH): c.*1814G> A single nucleotide variant Likely benign rs183138464 GRCh37 Chromosome 5, 14709492: 14709492
50 ANKH NM_054027.4(ANKH): c.*1814G> A single nucleotide variant Likely benign rs183138464 GRCh38 Chromosome 5, 14709383: 14709383

Expression for Craniometaphyseal Dysplasia, Autosomal Dominant

Search GEO for disease gene expression data for Craniometaphyseal Dysplasia, Autosomal Dominant.

Pathways for Craniometaphyseal Dysplasia, Autosomal Dominant

GO Terms for Craniometaphyseal Dysplasia, Autosomal Dominant

Biological processes related to Craniometaphyseal Dysplasia, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 9.43 BMP1 MSX2
2 osteoblast differentiation GO:0001649 9.43 GJA1 MSX2 SP7
3 embryonic digit morphogenesis GO:0042733 9.4 GJA1 MSX2
4 outflow tract septum morphogenesis GO:0003148 9.37 ACVR1 MSX2
5 regulation of bone mineralization GO:0030500 9.32 ANKH GJA1
6 BMP signaling pathway involved in heart development GO:0061312 9.16 ACVR1 MSX2
7 positive regulation of osteoblast differentiation GO:0045669 9.13 ACVR1 GJA1 MSX2
8 skeletal system development GO:0001501 8.92 ANKH BMP1 COL10A1 DLL3

Sources for Craniometaphyseal Dysplasia, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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