CMDD
MCID: CRN052
MIFTS: 51

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 57 24 53 75 29 6 73
Craniometaphyseal Dysplasia 57 12 24 25 59 37 29 13 6 15
Cmdd 57 53 25 75
Cmdj 57 53 25 75
Cmd 57 53 25
Craniometaphyseal Dysplasia, Jackson Type 57 25
Craniometaphyseal Dysplasia Jackson Type 53 75
Craniometaphyseal Dysplasia, Autosomal Recessive Type 73
Dysplasia, Craniometaphyseal, Autosomal Recessive 40
Dysplasia, Craniometaphyseal, Autosomal Dominant 40
Craniometaphyseal Dysplasia, Jackson Type; Cmdj 57
Autosomal Recessive Craniometaphyseal Dysplasia 25
Autosomal Dominant Craniometaphyseal Dysplasia 25
Jackson Type 24
Cmdr 25

Characteristics:

Orphanet epidemiological data:

59
craniometaphyseal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
see )


HPO:

32
craniometaphyseal dysplasia, autosomal dominant:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 : 53 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 and ankylosis. 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 facial palsy

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 : 25 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 : 57 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 : 75 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 : 76 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 53)
# Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 30.2 OTULIN ANKH
2 ankylosis 30.1 SP7 ANKH ACVR1
3 muscular dystrophy, congenital, lmna-related 12.1
4 muscular dystrophy, congenital, merosin-positive 11.5
5 cardiomyopathy, dilated, 1a 11.2
6 collagen vi related muscular dystrophy 11.2
7 congenital muscular dystrophy with cerebellar involvement 11.1
8 congenital muscular dystrophy with intellectual disability 11.1
9 congenital muscular dystrophy without intellectual disability 11.1
10 craniometaphyseal dysplasia, autosomal recessive 11.1
11 campomelic dysplasia 11.0
12 barth syndrome 11.0
13 muscular dystrophy-dystroglycanopathy , type a, 4 11.0
14 epileptic encephalopathy, early infantile, 36 11.0
15 salih myopathy 11.0
16 congenital disorder of glycosylation, type iu 11.0
17 muscular dystrophy-dystroglycanopathy 11.0
18 congenital muscular dystrophy due to dystroglycanopathy 11.0
19 muscular dystrophy 10.5
20 vaccinia 10.4
21 pyle disease 10.3
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
23 osteopetrosis 10.2
24 chondrocalcinosis 2 10.1 OTULIN ANKH
25 joint disorders 10.1
26 multiple sclerosis 10.0
27 3-methylglutaconic aciduria, type iii 10.0
28 hydrocephalus 10.0
29 rickets 10.0
30 secondary hyperparathyroidism of renal origin 10.0
31 hyperparathyroidism 10.0
32 hyperostosis 10.0
33 intracranial hypertension 10.0
34 chiari malformation 10.0
35 frontometaphyseal dysplasia 10.0
36 retinal detachment 9.9
37 cerebellar hypoplasia 9.9
38 b-cell lymphomas 9.9
39 dilated cardiomyopathy 9.9
40 mantle cell lymphoma 9.9
41 lymphoma 9.9
42 ptosis 9.9
43 microcephaly 9.9
44 disease of mental health 9.9
45 congenital muscular dystrophy type 1a 9.9
46 dwarfism 9.9
47 indolent b cell lymphoma 9.9
48 fibromyalgia 9.9
49 myositis ossificans 9.9 BMP1 ACVR1
50 osteochondrodysplasia 9.9 SP7 ANKH

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Craniometaphyseal Dysplasia, Autosomal Dominant:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
3 skeletal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002652
4 craniofacial hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004493
5 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
6 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
7 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
8 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
9 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
10 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
11 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
12 osteopetrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011002
13 macrocephaly 32 HP:0000256
14 mandibular prognathia 32 HP:0000303
15 abnormality of pelvic girdle bone morphology 32 HP:0002644
16 abnormality of the vertebral column 32 HP:0000925
17 misalignment of teeth 32 HP:0000692
18 abnormality of the cranial nerves 59 Occasional (29-5%)
19 metaphyseal widening 32 HP:0003016
20 sclerosis of skull base 32 HP:0002694
21 mixed hearing impairment 32 HP:0000410
22 nasal obstruction 32 HP:0001742
23 calvarial osteosclerosis 32 HP:0005450
24 bony paranasal bossing 32 HP:0004407
25 abnormality of the nasopharynx 32 HP:0001739
26 erlenmeyer flask deformity of the femurs 32 HP:0004975
27 club-shaped distal femur 32 HP:0006384

MGI Mouse Phenotypes related to Craniometaphyseal Dysplasia, Autosomal Dominant:

46 (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

Search Clinical Trials , 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 29 ANKH
2 Craniometaphyseal Dysplasia 29

Anatomical Context for Craniometaphyseal Dysplasia, Autosomal Dominant

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

41
Bone, B Cells

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

19
Skull

Publications for Craniometaphyseal Dysplasia, Autosomal Dominant

Articles related to Craniometaphyseal Dysplasia, Autosomal Dominant:

(show top 50) (show all 97)
# Title Authors Year
1
Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia. ( 29444796 )
2018
2
Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia. ( 30356088 )
2018
3
An atypical case of craniometaphyseal dysplasia. Case report and surgical treatment. ( 29299192 )
2017
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
Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis. ( 27594963 )
2016
7
Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia. ( 27784318 )
2016
8
Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features. ( 26820766 )
2016
9
Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature. ( 25890400 )
2015
10
Dental Anomalies Associated with Craniometaphyseal Dysplasia. ( 24663682 )
2014
11
Infant with persistent nasal obstruction. Craniometaphyseal dysplasia (CMD). ( 25188335 )
2014
12
Chiari type I malformation caused by craniometaphyseal dysplasia. ( 24356723 )
2013
13
Dental abnormalities in a mouse model for craniometaphyseal dysplasia. ( 23160629 )
2013
14
Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia. ( 23421944 )
2013
15
Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia. ( 24219578 )
2013
16
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. ( 23951358 )
2013
17
Craniometaphyseal dysplasia. ( 23529266 )
2013
18
Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia. ( 22150416 )
2012
19
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. ( 21465646 )
2011
20
Craniometaphyseal dysplasia unnoticed until 19 years of age: First diagnosed from facial nerve paralysis. ( 21227606 )
2011
21
A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD). ( 21149338 )
2011
22
Cardiopulmonary arrest caused by craniometaphyseal dysplasia. ( 21328078 )
2011
23
Intracranial hypertension in two cases of craniometaphyseal dysplasia: differing surgical options. ( 21806345 )
2011
24
Enabling an unimpeded surgical approach to the skull base in patients with cranial hyperostosis, exemplarily demonstrated for craniometaphyseal dysplasia. ( 21495823 )
2011
25
Craniometaphyseal dysplasia-induced hearing loss. ( 20351609 )
2011
26
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. ( 20358596 )
2010
27
Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia. ( 20186813 )
2010
28
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. ( 19449425 )
2009
29
Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia. ( 19257826 )
2009
30
Craniometaphyseal dysplasia: a case report. ( 19426903 )
2009
31
Optic nerve sheath fenestration and bilateral expansile cranioplasty for raised intracranial pressure in craniometaphyseal dysplasia: a case report. ( 18205007 )
2008
32
Foramen magnum decompression and expansile duroplasty for acquired Chiari type I malformation in craniometaphyseal dysplasia. ( 18224526 )
2008
33
Chiari malformation caused by craniometaphyseal dysplasia: case report and review of literature. ( 18493899 )
2008
34
Progressive facial disfigurement and deafness in craniometaphyseal dysplasia. ( 17202639 )
2006
35
Craniofacial surgery for craniometaphyseal dysplasia. ( 16679657 )
2006
36
Craniometaphyseal dysplasia. ( 16012045 )
2005
37
Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome. ( 15533982 )
2004
38
Craniometaphyseal dysplasia: a case report and review of medical and surgical management. ( 12560153 )
2003
39
Craniometaphyseal dysplasia: a case report and review of medical and surgical management. ( 12745166 )
2003
40
Craniometaphyseal dysplasia: ophthalmic features and management. ( 12908537 )
2003
41
Autosomal dominant craniometaphyseal dysplasia with atypical features. ( 11987949 )
2002
42
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. ( 11326272 )
2001
43
Refinement of the chromosome 5p locus for craniometaphyseal dysplasia. ( 11409866 )
2001
44
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. ( 11326338 )
2001
45
Craniometaphyseal dysplasia: case report. ( 11210264 )
2000
46
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
47
Tooth eruption in a patient with craniometaphyseal dysplasia: case report. ( 11016689 )
2000
48
28-year follow-up of the craniofacial findings in a patient with craniometaphyseal dysplasia. ( 10508997 )
1999
49
Craniometaphyseal dysplasia in six generations of a German kindred. ( 9605583 )
1998
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:

75
# 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 309)
# 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 GJA1 NM_000165.4(GJA1): c.716G> A (p.Arg239Gln) single nucleotide variant Likely pathogenic rs764670582 GRCh37 Chromosome 6, 121768709: 121768709
15 GJA1 NM_000165.4(GJA1): c.716G> A (p.Arg239Gln) single nucleotide variant Likely pathogenic rs764670582 GRCh38 Chromosome 6, 121447563: 121447563
16 ANKH NM_054027.4(ANKH): c.1237G> A (p.Ala413Thr) single nucleotide variant Likely benign rs112513380 GRCh37 Chromosome 5, 14713681: 14713681
17 ANKH NM_054027.4(ANKH): c.1237G> A (p.Ala413Thr) single nucleotide variant Likely benign rs112513380 GRCh38 Chromosome 5, 14713572: 14713572
18 ANKH NM_054027.4(ANKH): c.102G> A (p.Leu34=) single nucleotide variant Benign/Likely benign rs116591972 GRCh37 Chromosome 5, 14769295: 14769295
19 ANKH NM_054027.4(ANKH): c.102G> A (p.Leu34=) single nucleotide variant Benign/Likely benign rs116591972 GRCh38 Chromosome 5, 14769186: 14769186
20 ANKH NM_054027.4(ANKH): c.*5459C> T single nucleotide variant Likely benign rs79739542 GRCh37 Chromosome 5, 14705847: 14705847
21 ANKH NM_054027.4(ANKH): c.*5459C> T single nucleotide variant Likely benign rs79739542 GRCh38 Chromosome 5, 14705738: 14705738
22 ANKH NM_054027.4(ANKH): c.*5034delA deletion Uncertain significance rs541644826 GRCh37 Chromosome 5, 14706272: 14706272
23 ANKH NM_054027.4(ANKH): c.*5034delA deletion Uncertain significance rs541644826 GRCh38 Chromosome 5, 14706163: 14706163
24 ANKH NM_054027.4(ANKH): c.*4958T> C single nucleotide variant Likely benign rs187771198 GRCh37 Chromosome 5, 14706348: 14706348
25 ANKH NM_054027.4(ANKH): c.*4958T> C single nucleotide variant Likely benign rs187771198 GRCh38 Chromosome 5, 14706239: 14706239
26 ANKH NM_054027.4(ANKH): c.*4268C> A single nucleotide variant Likely benign rs150706862 GRCh37 Chromosome 5, 14707038: 14707038
27 ANKH NM_054027.4(ANKH): c.*4268C> A single nucleotide variant Likely benign rs150706862 GRCh38 Chromosome 5, 14706929: 14706929
28 ANKH NM_054027.4(ANKH): c.*4219T> C single nucleotide variant Likely benign rs147322366 GRCh37 Chromosome 5, 14707087: 14707087
29 ANKH NM_054027.4(ANKH): c.*4219T> C single nucleotide variant Likely benign rs147322366 GRCh38 Chromosome 5, 14706978: 14706978
30 ANKH NM_054027.4(ANKH): c.*3900T> C single nucleotide variant Benign rs76635089 GRCh37 Chromosome 5, 14707406: 14707406
31 ANKH NM_054027.4(ANKH): c.*3900T> C single nucleotide variant Benign rs76635089 GRCh38 Chromosome 5, 14707297: 14707297
32 ANKH NM_054027.4(ANKH): c.*3706G> A single nucleotide variant Benign rs25992 GRCh37 Chromosome 5, 14707600: 14707600
33 ANKH NM_054027.4(ANKH): c.*3706G> A single nucleotide variant Benign rs25992 GRCh38 Chromosome 5, 14707491: 14707491
34 ANKH NM_054027.4(ANKH): c.*3698T> A single nucleotide variant Likely benign rs563873078 GRCh37 Chromosome 5, 14707608: 14707608
35 ANKH NM_054027.4(ANKH): c.*3698T> A single nucleotide variant Likely benign rs563873078 GRCh38 Chromosome 5, 14707499: 14707499
36 ANKH NM_054027.4(ANKH): c.*3420T> C single nucleotide variant Likely benign rs79059123 GRCh37 Chromosome 5, 14707886: 14707886
37 ANKH NM_054027.4(ANKH): c.*3420T> C single nucleotide variant Likely benign rs79059123 GRCh38 Chromosome 5, 14707777: 14707777
38 ANKH NM_054027.4(ANKH): c.*2974G> A single nucleotide variant Likely benign rs182073449 GRCh37 Chromosome 5, 14708332: 14708332
39 ANKH NM_054027.4(ANKH): c.*2974G> A single nucleotide variant Likely benign rs182073449 GRCh38 Chromosome 5, 14708223: 14708223
40 ANKH NM_054027.4(ANKH): c.*2236G> A single nucleotide variant Likely benign rs201439698 GRCh37 Chromosome 5, 14709070: 14709070
41 ANKH NM_054027.4(ANKH): c.*2236G> A single nucleotide variant Likely benign rs201439698 GRCh38 Chromosome 5, 14708961: 14708961
42 ANKH NM_054027.4(ANKH): c.*2200T> C single nucleotide variant Likely benign rs191334359 GRCh37 Chromosome 5, 14709106: 14709106
43 ANKH NM_054027.4(ANKH): c.*2200T> C single nucleotide variant Likely benign rs191334359 GRCh38 Chromosome 5, 14708997: 14708997
44 ANKH NM_054027.4(ANKH): c.*1814G> A single nucleotide variant Likely benign rs183138464 GRCh37 Chromosome 5, 14709492: 14709492
45 ANKH NM_054027.4(ANKH): c.*1814G> A single nucleotide variant Likely benign rs183138464 GRCh38 Chromosome 5, 14709383: 14709383
46 ANKH NM_054027.4(ANKH): c.*1668A> C single nucleotide variant Uncertain significance rs886060079 GRCh37 Chromosome 5, 14709638: 14709638
47 ANKH NM_054027.4(ANKH): c.*1668A> C single nucleotide variant Uncertain significance rs886060079 GRCh38 Chromosome 5, 14709529: 14709529
48 ANKH NM_054027.4(ANKH): c.*1322_*1325delATTT deletion Uncertain significance rs886060081 GRCh38 Chromosome 5, 14709872: 14709875
49 ANKH NM_054027.4(ANKH): c.*1322_*1325delATTT deletion Uncertain significance rs886060081 GRCh37 Chromosome 5, 14709981: 14709984
50 ANKH NM_054027.4(ANKH): c.*1211delA deletion Uncertain significance rs886060082 GRCh37 Chromosome 5, 14710095: 14710095

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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