CMDD
MCID: CRN052
MIFTS: 61

Craniometaphyseal Dysplasia, Autosomal Dominant (CMDD)

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

Aliases & Classifications for Craniometaphyseal Dysplasia, Autosomal Dominant

MalaCards integrated aliases for Craniometaphyseal Dysplasia, Autosomal Dominant:

Name: Craniometaphyseal Dysplasia, Autosomal Dominant 56 24 52 73 29 6 71
Craniometaphyseal Dysplasia 56 12 25 58 36 29 13 6 15
Cmdd 56 52 25 73
Cmdj 56 52 25 73
Cmd 56 52 25
Craniometaphyseal Dysplasia, Jackson Type 56 25
Craniometaphyseal Dysplasia Jackson Type 52 73
Craniometaphyseal Dysplasia, Autosomal Recessive Type 71
Dysplasia, Craniometaphyseal, Autosomal Dominant 39
Craniometaphyseal Dysplasia, Jackson Type; Cmdj 56
Autosomal Recessive Craniometaphyseal Dysplasia 25
Autosomal Dominant Craniometaphyseal Dysplasia 25
Cmdr 25

Characteristics:

Orphanet epidemiological data:

58
craniometaphyseal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
see )


HPO:

31
craniometaphyseal dysplasia, autosomal dominant:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is 100%. males and females are equally affected.

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080033
OMIM 56 123000
KEGG 36 H00491
ICD10 via Orphanet 33 Q78.8
UMLS via Orphanet 72 C3887594
Orphanet 58 ORPHA1522
MedGen 41 C1852502
UMLS 71 C1852502 C2931244

Summaries for Craniometaphyseal Dysplasia, Autosomal Dominant

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. Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excess bone formation in the jaw can delay teething (dentition) or result in absent (non-erupting) teeth. Infants with craniometaphyseal dysplasia may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can pinch (compress) the nerves that extend from the brain to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly long bones in the legs. The ends of these bones are wider and appear less dense than usual in people with this condition. There are two types of craniometaphyseal dysplasia, which are distinguished by their pattern of inheritance and genetic cause. They are known as the autosomal dominant and autosomal recessive types.

MalaCards based summary : Craniometaphyseal Dysplasia, Autosomal Dominant, also known as craniometaphyseal dysplasia, is related to chondrocalcinosis 2 and familial calcium pyrophosphate deposition. An important gene associated with Craniometaphyseal Dysplasia, Autosomal Dominant is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Development Slit-Robo signaling. The drugs Aluminum hydroxide and Emtricitabine have been mentioned in the context of this disorder. Affiliated tissues include skull, bone and eye, and related phenotypes are craniofacial hyperostosis and depressed nasal bridge

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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Craniometaphyseal dysplasia, caused by mutations in ANKH, is a very rare condition characterized by progressive hyperostosis of cranial bones and malformations of metaphyseal long bones.

UniProtKB/Swiss-Prot : 73 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 : 74 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 195)
# Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 2 31.1 OTULIN ANKH
2 familial calcium pyrophosphate deposition 31.1 OTULIN LOC100130744 ANKH
3 hyperostosis 30.6 GJA1 ANKH ALPL
4 craniodiaphyseal dysplasia 30.5 TCIRG1 CLCN7 ANKH
5 oculodentodigital dysplasia 30.3 GJC1 GJA4 GJA3 GJA1
6 chondrocalcinosis 30.2 OTULIN ENPP1 ANKH ALPL
7 hypophosphatemia 30.0 ENPP1 BGLAP ALPL
8 osteopetrosis 29.7 TNFSF11 TCIRG1 RUNX2 OSTM1 CLCN7 BGLAP
9 rickets 29.4 IBSP ENPP1 BGLAP ALPL
10 fibrous dysplasia 29.4 TNFSF11 RUNX2 IBSP BGLAP
11 ankylosis 29.3 TNFSF11 SP7 RUNX2 IBSP ENPP1 BGLAP
12 bone resorption disease 29.3 TNFSF11 SP7 RUNX2 IBSP BGLAP
13 endosteal hyperostosis, autosomal dominant 29.2 TNFSF11 TCIRG1 SP7 OSTM1 IBSP CLCN7
14 odontochondrodysplasia 28.4 TNFSF11 SP7 RUNX2 IBSP CLCN7 BGLAP
15 bone disease 28.4 TNFSF11 SP7 RUNX2 OSTM1 IBSP CLCN7
16 muscular dystrophy, congenital, lmna-related 12.4
17 muscular dystrophy, congenital, merosin-positive 11.7
18 congenital muscular dystrophy due to dystroglycanopathy 11.6
19 muscular dystrophy-dystroglycanopathy , type a, 4 11.5
20 salih myopathy 11.5
21 cardiomyopathy, dilated, 1a 11.4
22 congenital disorder of glycosylation, type iu 11.3
23 collagen vi related muscular dystrophy 11.3
24 congenital muscular dystrophy with cerebellar involvement 11.3
25 congenital muscular dystrophy with intellectual disability 11.3
26 congenital muscular dystrophy without intellectual disability 11.3
27 craniometaphyseal dysplasia, autosomal recessive 11.3
28 campomelic dysplasia 11.2
29 ullrich congenital muscular dystrophy 1 11.2
30 barth syndrome 11.2
31 cardiomyopathy, dilated, 2c 11.2
32 muscular dystrophy-dystroglycanopathy 11.2
33 vaccinia 10.6
34 metaphyseal dysplasia 10.6
35 muscular dystrophy 10.6
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
37 overgrowth syndrome 10.4
38 cleft palate, isolated 10.4
39 dwarfism 10.3
40 hereditary lymphedema ic 10.3 GJC1 GJA3 GJA1
41 osteopetrosis, autosomal recessive 1 10.3 TCIRG1 CLCN7
42 hypertelorism 10.3
43 secondary hyperparathyroidism 10.3
44 hyperparathyroidism 10.3
45 clcn7-related osteopetrosis 10.3
46 chiari malformation 10.3
47 hallermann-streiff syndrome 10.3 GJC1 GJA3 GJA1
48 axial osteomalacia 10.3 TCIRG1 OSTM1 CLCN7
49 fibrogenesis imperfecta ossium 10.3 TCIRG1 OSTM1 CLCN7
50 autosomal recessive malignant osteopetrosis 10.3 TNFSF11 TCIRG1 CLCN7

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:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 craniofacial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004493
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
6 osteopetrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011002
7 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
8 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
9 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
10 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
11 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
12 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
13 macrocephaly 31 HP:0000256
14 mandibular prognathia 31 HP:0000303
15 abnormal cranial nerve morphology 58 Occasional (29-5%)
16 abnormality of pelvic girdle bone morphology 31 HP:0002644
17 abnormality of the vertebral column 31 HP:0000925
18 misalignment of teeth 31 HP:0000692
19 mixed hearing impairment 31 HP:0000410
20 metaphyseal widening 31 HP:0003016
21 nasal obstruction 31 HP:0001742
22 sclerosis of skull base 31 HP:0002694
23 calvarial osteosclerosis 31 HP:0005450
24 club-shaped distal femur 31 HP:0006384
25 erlenmeyer flask deformity of the femurs 31 HP:0004975
26 abnormality of the nasopharynx 31 HP:0001739
27 bony paranasal bossing 31 HP:0004407

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism

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 Head:
macrocephaly

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:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.32 ALPL ANKH CLCN7 COPS3 DRG2 ENPP1
2 homeostasis/metabolism MP:0005376 10.28 ALPL ANKH BGLAP CLCN7 DRG2 ENPP1
3 cellular MP:0005384 10.25 ALPL ANKH BGLAP CLCN7 ENPP1 GJA1
4 craniofacial MP:0005382 10.24 ALPL ANKH CLCN7 ENPP1 GJA1 IBSP
5 hematopoietic system MP:0005397 10.23 ALPL ANKH BGLAP CLCN7 GJA1 GJC1
6 immune system MP:0005387 10.18 ALPL ANKH BGLAP CLCN7 ENPP1 GJA1
7 mortality/aging MP:0010768 10.17 ALPL ANKH CLCN7 COPS3 ENPP1 GJA1
8 limbs/digits/tail MP:0005371 10.15 ALPL ANKH CLCN7 DRG2 ENPP1 GJA1
9 muscle MP:0005369 9.91 ALPL ANKH ENPP1 GJA1 GJA4 GJC1
10 skeleton MP:0005390 9.8 ALPL ANKH BGLAP CLCN7 DRG2 ENPP1
11 respiratory system MP:0005388 9.76 ALPL ANKH CLCN7 GJA1 GJA4 RUNX2
12 vision/eye MP:0005391 9.23 CLCN7 ENPP1 GJA1 GJA3 GJC1 OSTM1

Drugs & Therapeutics for Craniometaphyseal Dysplasia, Autosomal Dominant

Drugs for Craniometaphyseal Dysplasia, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aluminum hydroxide Approved, Investigational Phase 2 21645-51-2
2
Emtricitabine Approved, Investigational Phase 2 143491-57-0 60877
3
Tenofovir Experimental, Investigational Phase 2 147127-20-6 464205
4 Vaccines Phase 2
5 Immunologic Factors Phase 2
6 Reverse Transcriptase Inhibitors Phase 2
7 polysaccharide-K Phase 2
8 Immunoglobulins Phase 1
9 Antibodies Phase 1
10 Antibodies, Monoclonal Phase 1
11 Poly ICLC Phase 1
12 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Immunogenicity Following Further Boosting With HIV-1 MVA-CMDR Vaccine to HIVIS03 Volunteers Who Were Primed With HIV-1 DNA Low Dose Intradermally or 'Standard' Dose Intramuscularly and Boosted With MVA-CMDR Vaccine Completed NCT01461447 Phase 1, Phase 2
2 A Phase IIb Three-arm, Two-stage HIV Prophylactic Vaccine Trial With a Second Randomisation to Compare TAF/FTC to TDF/FTC as Pre-exposure Prophylaxis Not yet recruiting NCT04066881 Phase 2 Control PrEP:TDF/FTC once daily (weeks 0-26);Experimental PrEP:TAF/FTC once daily (weeks 0-26)
3 Phase I Study to Evaluate the Safety/Immunogenicity of Boost Immunizations With MVA-CMDR in Healthy Volunteers Previously Immunized With Anti-DEC-205 Monoclonal Antibody Targeted HIV Gag p24 Vaccine Plus Poly-ICLC (RV 365 / WRAIR #2006) Completed NCT01889719 Phase 1
4 A Phase I Double-Blind, Randomized, Dose Escalating, Placebo-Controlled, Study of Safety and Immunogenicity of WRAIR/NIH Live Recombinant MVA-CMDR (HIV-1 CM235 Env/ CM240 Gag/Pol) Administered by Intramuscular (IM) or Intradermal (ID) Route In HIV-Uninfected Adults Completed NCT00376090 Phase 1
5 A Phase I Study of the Safety and Immunogenicity of PENNVAX-G DNA (ENV & GAG) Administered by Intramuscular Biojector 2000 or CELLECTRA Intramuscular Electroporation Device Followed by MVA-CMDR (HIV-1 CM235 ENV/CM240 GAG/POL) Boost in Healthy, HIV Uninfected Adults Completed NCT01260727 Phase 1
6 A Phase I Trial to Assess Safety and Immunogenicity of i.d. DNA Priming and i.m. MVA Boosting in Healthy Volunteers in Mozambique and to Develop Further HIV Vaccine Trial Capacity Building in Mozambique Completed NCT01407497 Phase 1
7 A Phase 1 Randomized, Double-Blind, Placebo Controlled Clinical Trial to Evaluate the Safety and Immunogenicity of 3 Different HIV-1 DNA Priming Regimens (Nat-B Env, CON-S Env, and Mosaic Env) With MVA-CMDR Boosts in Healthy, HIV-1-Uninfected Adults Active, not recruiting NCT02296541 Phase 1
8 Phase I, Proof of Concept, Open-Label, Randomized Clinical Trial to Evaluate the Safety and Effects of Using Prime-boost HIVIS DNA and MVA-CMDR Vaccine Regimens With or Without Toll-like Receptor 4 Agonist on HIV Reservoirs in Perinatally HIV Infected Children and Youth Not yet recruiting NCT04301154 Phase 1
9 Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms 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 29 ANKH
2 Craniometaphyseal Dysplasia 29

Anatomical Context for Craniometaphyseal Dysplasia, Autosomal Dominant

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

19
Skull

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

40
Bone, Eye, Brain

Publications for Craniometaphyseal Dysplasia, Autosomal Dominant

Articles related to Craniometaphyseal Dysplasia, Autosomal Dominant:

(show top 50) (show all 155)
# Title Authors PMID Year
1
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 56 6 24 61
20358596 2010
2
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. 24 56 6 61
19449425 2009
3
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. 61 56 24 6
11326338 2001
4
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. 6 24 56 61
11326272 2001
5
Dominant craniometaphyseal dysplasia--a family study over five generations. 6 56 61
2712793 1989
6
Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump. 56 24 61
7678608 1993
7
Craniometaphyseal dysplasia--variability of expression within a large family. 56 24 61
421364 1979
8
[CRANIOMETAPHYSIAL DYSPLASIA (PYLE)]. 6 56
14322785 1965
9
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. 6 61
23951358 2013
10
Craniometaphyseal Dysplasia, Autosomal Dominant 6 61
20301634 2007
11
Refinement of the chromosome 5p locus for craniometaphyseal dysplasia. 56 61
11409866 2001
12
Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. 6 61
11146471 2000
13
The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. 61 56
9382103 1997
14
Craniometaphyseal dysplasia (CMD), autosomal dominant form. 56 61
7616544 1995
15
Autosomal dominant craniometaphyseal dysplasia. Clinical variability. 56 61
6831758 1983
16
Craniometaphyseal dysplasia: the first successful surgical treatment for associated hearing loss. 56 61
7266214 1981
17
Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia. 61 24
30356088 2018
18
Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features. 24 61
26820766 2016
19
Infant with persistent nasal obstruction. Craniometaphyseal dysplasia (CMD). 24 61
25188335 2014
20
Dental Anomalies Associated with Craniometaphyseal Dysplasia. 61 24
24663682 2014
21
Chiari type I malformation caused by craniometaphyseal dysplasia. 61 24
24356723 2013
22
Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia. 24 61
22150416 2012
23
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. 24 61
20943778 2011
24
Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia. 61 24
20186813 2010
25
Craniometaphyseal dysplasia: a case report. 61 24
19426903 2009
26
Craniometaphyseal dysplasia: a case report and review of medical and surgical management. 61 24
12560153 2003
27
Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred. 61 24
11343343 2001
28
Tooth eruption in a patient with craniometaphyseal dysplasia: case report. 61 24
11016689 2000
29
Bilateral choanal narrowing as a presentation of craniometaphyseal dysplasia. 24 61
9210083 1997
30
Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. 24 61
8733453 1996
31
Craniometaphyseal dysplasia as a rare cause of a severe neonatal nasal obstruction. 24 61
8770684 1996
32
Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice. 56
1997203 1991
33
Sequential expression of phenotype markers for osteoclasts during differentiation of precursors for multinucleated cells formed in long-term human marrow cultures. 56
1701138 1990
34
Treatment of craniometaphyseal dysplasia with calcitriol. 24 61
3351684 1988
35
Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: therapeutic effect of calcitonin. 61 24
3351685 1988
36
Cranial metaphyseal dysplasia. Otolaryngologic aspects. 56
4703537 1973
37
Familial metaphyseal dysplasia? 56
4195162 1970
38
Familial metaphyseal dysplasia. 56
4194833 1970
39
[Familial cranio-metaphyseal dysplasia]. 56
5973274 1966
40
[Familial metaphysial dysplasia: Plye's disease]. 56
13944163 1963
41
Cranial manifestations of familial metaphyseal dysplasia. 56
13297995 1956
42
Can acetazolamide be used to treat diseases involving increased bone mineral density? 24
27904825 2016
43
Timing, rates and spectra of human germline mutation. 24
26656846 2016
44
Role of the mouse ank gene in control of tissue calcification and arthritis. 24
10894769 2000
45
Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia. 61
32366894 2020
46
Cochlear Implantation in Craniometaphyseal Dysplasia. 61
31834875 2020
47
Craniometaphyseal dysplasia: Report of 2 cases with an emphasis on panoramic imaging features. 61
30607353 2018
48
Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia. 61
29444796 2018
49
Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts. 61
29056330 2017
50
Craniometaphyseal Dysplasia: A review and novel oral manifestation. 61
28706789 2017

Variations for Craniometaphyseal Dysplasia, Autosomal Dominant

ClinVar genetic disease variations for Craniometaphyseal Dysplasia, Autosomal Dominant:

6 (show top 50) (show all 229) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANKH NM_054027.6(ANKH):c.1126_1128TTC[1] (p.Phe377del)short repeat Pathogenic 5191 rs121908405 5:14716825-14716827 5:14716716-14716718
2 ANKH NM_054027.6(ANKH):c.1165G>A (p.Gly389Arg)SNV Pathogenic 5192 rs28939080 5:14713753-14713753 5:14713644-14713644
3 ANKH NM_054027.6(ANKH):c.1142-4A>GSNV Pathogenic 5193 5:14713780-14713780 5:14713671-14713671
4 ANKH NM_054027.6(ANKH):c.1124_1126del (p.Ser375del)deletion Pathogenic 5194 rs121908406 5:14716830-14716832 5:14716721-14716723
5 ANKH NM_054027.6(ANKH):c.1015T>C (p.Cys339Arg)SNV Pathogenic 5200 rs267606656 5:14716941-14716941 5:14716832-14716832
6 ANKH NM_054027.6(ANKH):c.1172T>C (p.Leu391Pro)SNV Pathogenic 5201 rs267606658 5:14713746-14713746 5:14713637-14713637
7 ANKH NM_054027.6(ANKH):c.1001T>G (p.Leu334Arg)SNV Pathogenic 5202 rs267606657 5:14741946-14741946 5:14741837-14741837
8 ANKH NM_054027.6(ANKH):c.1141+5A>GSNV Conflicting interpretations of pathogenicity 199179 rs187972211 5:14716810-14716810 5:14716701-14716701
9 ANKH NM_054027.6(ANKH):c.1000C>G (p.Leu334Val)SNV Conflicting interpretations of pathogenicity 904041 5:14741947-14741947 5:14741838-14741838
10 ANKH NM_054027.6(ANKH):c.937G>A (p.Val313Met)SNV Uncertain significance 904042 5:14742010-14742010 5:14741901-14741901
11 ANKH NM_054027.6(ANKH):c.897G>A (p.Val299=)SNV Uncertain significance 904824 5:14745997-14745997 5:14745888-14745888
12 ANKH NM_054027.6(ANKH):c.600C>T (p.Gly200=)SNV Uncertain significance 904225 5:14751265-14751265 5:14751156-14751156
13 ANKH NM_054027.6(ANKH):c.*2017G>ASNV Uncertain significance 906055 5:14709289-14709289 5:14709180-14709180
14 ANKH NM_054027.6(ANKH):c.*1894T>CSNV Uncertain significance 907063 5:14709412-14709412 5:14709303-14709303
15 ANKH NM_054027.6(ANKH):c.*1772C>TSNV Uncertain significance 903685 5:14709534-14709534 5:14709425-14709425
16 ANKH NM_054027.6(ANKH):c.*1754G>ASNV Uncertain significance 903686 5:14709552-14709552 5:14709443-14709443
17 ANKH NM_054027.6(ANKH):c.*1753C>TSNV Uncertain significance 903687 5:14709553-14709553 5:14709444-14709444
18 ANKH NM_054027.6(ANKH):c.*1646A>GSNV Uncertain significance 905607 5:14709660-14709660 5:14709551-14709551
19 ANKH NM_054027.6(ANKH):c.*1490T>CSNV Uncertain significance 905608 5:14709816-14709816 5:14709707-14709707
20 ANKH NM_054027.6(ANKH):c.*1470G>ASNV Uncertain significance 905609 5:14709836-14709836 5:14709727-14709727
21 ANKH NM_054027.6(ANKH):c.*1451T>CSNV Uncertain significance 906120 5:14709855-14709855 5:14709746-14709746
22 ANKH NM_054027.6(ANKH):c.*1423G>ASNV Uncertain significance 906121 5:14709883-14709883 5:14709774-14709774
23 ANKH NM_054027.6(ANKH):c.*1372C>ASNV Uncertain significance 906122 5:14709934-14709934 5:14709825-14709825
24 ANKH NM_054027.6(ANKH):c.*1137A>CSNV Uncertain significance 903766 5:14710169-14710169 5:14710060-14710060
25 ANKH NM_054027.6(ANKH):c.*999T>CSNV Uncertain significance 905680 5:14710307-14710307 5:14710198-14710198
26 ANKH NM_054027.6(ANKH):c.*833T>CSNV Uncertain significance 906192 5:14710473-14710473 5:14710364-14710364
27 ANKH NM_054027.6(ANKH):c.*700G>ASNV Uncertain significance 903843 5:14710606-14710606 5:14710497-14710497
28 ANKH NM_054027.6(ANKH):c.*309G>CSNV Uncertain significance 906253 5:14710997-14710997 5:14710888-14710888
29 ANKH NM_054027.6(ANKH):c.*256G>ASNV Uncertain significance 907247 5:14711050-14711050 5:14710941-14710941
30 ANKH NM_054027.6(ANKH):c.*147T>ASNV Uncertain significance 907248 5:14711159-14711159 5:14711050-14711050
31 ANKH NM_054027.6(ANKH):c.*96T>CSNV Uncertain significance 907249 5:14711210-14711210 5:14711101-14711101
32 ANKH NM_054027.6(ANKH):c.*30C>TSNV Uncertain significance 903904 5:14711276-14711276 5:14711167-14711167
33 ANKH NM_054027.6(ANKH):c.*6006A>TSNV Uncertain significance 904414 5:14705300-14705300 5:14705191-14705191
34 ANKH NM_054027.6(ANKH):c.*5980C>ASNV Uncertain significance 904415 5:14705326-14705326 5:14705217-14705217
35 ANKH NM_054027.6(ANKH):c.*5930C>TSNV Uncertain significance 905213 5:14705376-14705376 5:14705267-14705267
36 ANKH NM_054027.6(ANKH):c.*5906T>CSNV Uncertain significance 905214 5:14705400-14705400 5:14705291-14705291
37 ANKH NM_054027.6(ANKH):c.*5900T>CSNV Uncertain significance 905215 5:14705406-14705406 5:14705297-14705297
38 ANKH NM_054027.6(ANKH):c.*5899A>GSNV Uncertain significance 906804 5:14705407-14705407 5:14705298-14705298
39 ANKH NM_054027.6(ANKH):c.*5887G>CSNV Uncertain significance 907799 5:14705419-14705419 5:14705310-14705310
40 ANKH NM_054027.6(ANKH):c.*5062A>GSNV Uncertain significance 905264 5:14706244-14706244 5:14706135-14706135
41 ANKH NM_054027.6(ANKH):c.*4982T>CSNV Uncertain significance 906862 5:14706324-14706324 5:14706215-14706215
42 ANKH NM_054027.6(ANKH):c.*4811A>GSNV Uncertain significance 906863 5:14706495-14706495 5:14706386-14706386
43 ANKH NM_054027.6(ANKH):c.*4777C>ASNV Uncertain significance 906864 5:14706529-14706529 5:14706420-14706420
44 ANKH NM_054027.6(ANKH):c.*4635A>CSNV Uncertain significance 907853 5:14706671-14706671 5:14706562-14706562
45 ANKH NM_054027.6(ANKH):c.*4610C>ASNV Uncertain significance 904540 5:14706696-14706696 5:14706587-14706587
46 ANKH NM_054027.6(ANKH):c.*6368G>ASNV Uncertain significance 906739 5:14704938-14704938 5:14704829-14704829
47 ANKH NM_054027.6(ANKH):c.*6235G>ASNV Uncertain significance 906740 5:14705071-14705071 5:14704962-14704962
48 ANKH NM_054027.6(ANKH):c.*5579G>ASNV Uncertain significance 905262 5:14705727-14705727 5:14705618-14705618
49 ANKH NM_054027.6(ANKH):c.*3752G>ASNV Uncertain significance 904617 5:14707554-14707554 5:14707445-14707445
50 ANKH NM_054027.6(ANKH):c.*3567G>CSNV Uncertain significance 905921 5:14707739-14707739 5:14707630-14707630

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

73
# 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

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

Cellular components related to Craniometaphyseal Dysplasia, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.7 TNFSF11 TCIRG1 GJA4 GJA3 GJA1 ENPP1
2 lysosomal membrane GO:0005765 9.56 TCIRG1 OSTM1 ENPP1 CLCN7
3 gap junction GO:0005921 9.26 GJC1 GJA4 GJA3 GJA1
4 connexin complex GO:0005922 8.92 GJC1 GJA4 GJA3 GJA1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.97 GJC1 GJA4 GJA3 GJA1 CLCN7 ANKH
2 cell-cell signaling GO:0007267 9.87 GJC1 GJA4 GJA3 GJA1
3 ion transmembrane transport GO:0034220 9.83 TCIRG1 OSTM1 GJC1 GJA1 CLCN7
4 skeletal system development GO:0001501 9.78 RUNX2 BGLAP ANKH ALPL
5 bone development GO:0060348 9.71 TNFSF11 GJA1 BGLAP
6 bone resorption GO:0045453 9.61 TNFSF11 TCIRG1
7 osteoblast development GO:0002076 9.61 RUNX2 BGLAP
8 response to vitamin D GO:0033280 9.6 BGLAP ALPL
9 regulation of osteoclast differentiation GO:0045670 9.59 TNFSF11 BGLAP
10 regulation of osteoblast differentiation GO:0045667 9.58 TCIRG1 RUNX2
11 response to pH GO:0009268 9.58 GJA1 CLCN7
12 atrial cardiac muscle cell action potential GO:0086014 9.56 GJC1 GJA1
13 cell communication GO:0007154 9.56 GJC1 GJA4 GJA3 GJA1
14 gap junction assembly GO:0016264 9.55 GJC1 GJA1
15 osteoblast differentiation GO:0001649 9.55 SP7 RUNX2 IBSP BGLAP ALPL
16 osteoclast differentiation GO:0030316 9.54 TNFSF11 TCIRG1 OSTM1
17 tooth eruption GO:0044691 9.52 TNFSF11 TCIRG1
18 endothelium development GO:0003158 9.51 GJA4 GJA1
19 regulation of bone mineralization GO:0030500 9.5 ENPP1 BGLAP ANKH
20 osteoclast proliferation GO:0002158 9.46 TNFSF11 TCIRG1
21 inorganic diphosphate transport GO:0030505 9.4 ENPP1 ANKH
22 ossification GO:0001503 9.35 TNFSF11 TCIRG1 RUNX2 IBSP BGLAP
23 biomineral tissue development GO:0031214 8.92 IBSP ENPP1 BGLAP ALPL

Molecular functions related to Craniometaphyseal Dysplasia, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction hemi-channel activity GO:0055077 8.96 GJA3 GJA1
2 gap junction channel activity GO:0005243 8.92 GJC1 GJA4 GJA3 GJA1

Sources for Craniometaphyseal Dysplasia, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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