MCID: CRN012
MIFTS: 46

Craniometaphyseal Dysplasia

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

Aliases & Classifications for Craniometaphyseal Dysplasia

MalaCards integrated aliases for Craniometaphyseal Dysplasia:

Name: Craniometaphyseal Dysplasia 54 12 23 25 56 29 13 14
Craniometaphyseal Dysplasia, Autosomal Dominant 23 50 24 71 29 69
Cmdj 50 24 25 71
Cmdd 50 25 71
Craniometaphyseal Dysplasia, Jackson Type 24 25
Craniometaphyseal Dysplasia Jackson Type 50 71
Cmd 50 25
Craniometaphyseal Dysplasia, Autosomal Recessive Type 69
Autosomal Recessive Craniometaphyseal Dysplasia 25
Autosomal Dominant Craniometaphyseal Dysplasia 25
Jackson Type 23
Cmdr 25

Characteristics:

Orphanet epidemiological data:

56
craniometaphyseal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
see )


HPO:

32
craniometaphyseal dysplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is close to 100% in both genders. males and females are equally affected...

Classifications:



Summaries for Craniometaphyseal Dysplasia

NIH Rare Diseases : 50 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.  last updated: 4/11/2016

MalaCards based summary : Craniometaphyseal Dysplasia, also known as craniometaphyseal dysplasia, autosomal dominant, is related to craniometaphyseal dysplasia, autosomal recessive and muscular dystrophy, congenital, and has symptoms including visual impairment, depressed nasal bridge and hypertelorism. An important gene associated with Craniometaphyseal Dysplasia is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator). Affiliated tissues include bone, and related phenotypes are Decreased viability and craniofacial

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 25 Craniometaphyseal dysplasia is a rare condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal.

OMIM : 54
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)

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.

Wikipedia : 72 Craniometaphyseal Dysplasia Autosomal Dominant is a disorder is a rare skeletal disorder that results... more...

GeneReviews: NBK1461

Related Diseases for Craniometaphyseal Dysplasia

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



Diseases related to Craniometaphyseal Dysplasia

Symptoms & Phenotypes for Craniometaphyseal Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
hypertelorism

Head And Neck- Face:
prognathism
facial palsy

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

Skeletal- Pelvis:
normal pelvis

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

Respiratory- Nasopharynx:
nasal obstruction leading to mouth breathing

Skeletal- Spine:
normal spine

Head And Neck- Head:
macrocephaly

Growth- Height:
normal stature

Head And Neck- Ears:
mixed hearing loss

Neurologic- Central Nervous System:
facial palsy

Head And Neck- Teeth:
teeth malalignment

Skeletal- Skull:
sclerotic skull base
sclerotic calvarium
obliteration of sinuses


Clinical features from OMIM:

123000

Human phenotypes related to Craniometaphyseal Dysplasia:

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
3 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
4 telecanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000506
5 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
6 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
7 skeletal dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0002652
8 osteopetrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0011002
9 facial palsy 56 32 occasional (7.5%) Occasional (29-5%) HP:0010628
10 craniofacial hyperostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004493
11 conductive hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000405
12 macrocephaly 32 HP:0000256
13 calvarial osteosclerosis 32 HP:0005450
14 metaphyseal widening 32 HP:0003016
15 bony paranasal bossing 32 HP:0004407
16 nasal obstruction 32 HP:0001742
17 sclerosis of skull base 32 HP:0002694
18 mandibular prognathia 32 HP:0000303
19 abnormality of the metaphyses 56 Very frequent (99-80%)
20 abnormality of pelvic girdle bone morphology 32 HP:0002644
21 abnormality of the vertebral column 32 HP:0000925
22 misalignment of teeth 32 HP:0000692
23 abnormality of the cranial nerves 56 Occasional (29-5%)
24 mixed hearing impairment 32 HP:0000410
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
28 abnormality of the metaphysis 32 hallmark (90%) HP:0000944

GenomeRNAi Phenotypes related to Craniometaphyseal Dysplasia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.17 GJA1 LOXL2 PSMA6 SP7
2 Decreased viability GR00381-A-1 9.17 LOXL2 PSMA6
3 Decreased viability GR00381-A-2 9.17 LOXL2

MGI Mouse Phenotypes related to Craniometaphyseal Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.85 ACVR1 ANKH BMP1 COL10A1 DLL3 GJA1
2 limbs/digits/tail MP:0005371 9.8 ACVR1 ANKH BMP1 COL10A1 DLL3 GJA1
3 mortality/aging MP:0010768 9.76 ACVR1 ANKH BMP1 COL10A1 DLL3 GJA1
4 hearing/vestibular/ear MP:0005377 9.62 ACVR1 ANKH DLL3 GJA1
5 muscle MP:0005369 9.35 ACVR1 ANKH BMP1 DLL3 GJA1
6 skeleton MP:0005390 9.17 ACVR1 ANKH BMP1 COL10A1 DLL3 GJA1

Drugs & Therapeutics for Craniometaphyseal Dysplasia

Interventional clinical trials:


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

Search NIH Clinical Center for Craniometaphyseal Dysplasia

Genetic Tests for Craniometaphyseal Dysplasia

Genetic tests related to Craniometaphyseal Dysplasia:

id Genetic test Affiliating Genes
1 Craniometaphyseal Dysplasia, Autosomal Dominant 29 24 ANKH
2 Craniometaphyseal Dysplasia 29

Anatomical Context for Craniometaphyseal Dysplasia

MalaCards organs/tissues related to Craniometaphyseal Dysplasia:

39
Bone

Publications for Craniometaphyseal Dysplasia

Articles related to Craniometaphyseal Dysplasia:

(show top 50) (show all 92)
id Title Authors Year
1
Craniometaphyseal Dysplasia: A review and novel oral manifestation. ( 28706789 )
2017
2
Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features. ( 26820766 )
2016
3
Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia. ( 27784318 )
2016
4
Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis. ( 27594963 )
2016
5
Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature. ( 25890400 )
2015
6
Dental Anomalies Associated with Craniometaphyseal Dysplasia. ( 24663682 )
2014
7
Infant with persistent nasal obstruction. Craniometaphyseal dysplasia (CMD). ( 25188335 )
2014
8
Dental abnormalities in a mouse model for craniometaphyseal dysplasia. ( 23160629 )
2013
9
Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia. ( 24219578 )
2013
10
Chiari type I malformation caused by craniometaphyseal dysplasia. ( 24356723 )
2013
11
Craniometaphyseal dysplasia. ( 23529266 )
2013
12
Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia. ( 23421944 )
2013
13
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. ( 23951358 )
2013
14
Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia. ( 22150416 )
2012
15
Intracranial hypertension in two cases of craniometaphyseal dysplasia: differing surgical options. ( 21806345 )
2011
16
A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD). ( 21149338 )
2011
17
Cardiopulmonary arrest caused by craniometaphyseal dysplasia. ( 21328078 )
2011
18
Enabling an unimpeded surgical approach to the skull base in patients with cranial hyperostosis, exemplarily demonstrated for craniometaphyseal dysplasia. ( 21495823 )
2011
19
Craniometaphyseal dysplasia-induced hearing loss. ( 20351609 )
2011
20
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. ( 21465646 )
2011
21
Craniometaphyseal dysplasia unnoticed until 19 years of age: First diagnosed from facial nerve paralysis. ( 21227606 )
2011
22
Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia. ( 20186813 )
2010
23
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. ( 20358596 )
2010
24
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. ( 19449425 )
2009
25
Craniometaphyseal dysplasia: a case report. ( 19426903 )
2009
26
Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia. ( 19257826 )
2009
27
Foramen magnum decompression and expansile duroplasty for acquired Chiari type I malformation in craniometaphyseal dysplasia. ( 18224526 )
2008
28
Optic nerve sheath fenestration and bilateral expansile cranioplasty for raised intracranial pressure in craniometaphyseal dysplasia: a case report. ( 18205007 )
2008
29
Chiari malformation caused by craniometaphyseal dysplasia: case report and review of literature. ( 18493899 )
2008
30
Progressive facial disfigurement and deafness in craniometaphyseal dysplasia. ( 17202639 )
2006
31
Craniofacial surgery for craniometaphyseal dysplasia. ( 16679657 )
2006
32
Craniometaphyseal dysplasia. ( 16012045 )
2005
33
Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome. ( 15533982 )
2004
34
Craniometaphyseal dysplasia: a case report and review of medical and surgical management. ( 12745166 )
2003
35
Craniometaphyseal dysplasia: ophthalmic features and management. ( 12908537 )
2003
36
Craniometaphyseal dysplasia: a case report and review of medical and surgical management. ( 12560153 )
2003
37
Autosomal dominant craniometaphyseal dysplasia with atypical features. ( 11987949 )
2002
38
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. ( 11326338 )
2001
39
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. ( 11326272 )
2001
40
Refinement of the chromosome 5p locus for craniometaphyseal dysplasia. ( 11409866 )
2001
41
Craniometaphyseal dysplasia: case report. ( 11210264 )
2000
42
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
43
Tooth eruption in a patient with craniometaphyseal dysplasia: case report. ( 11016689 )
2000
44
28-year follow-up of the craniofacial findings in a patient with craniometaphyseal dysplasia. ( 10508997 )
1999
45
Temporal aspects in craniometaphyseal dysplasia: autosomal recessive type. ( 9508244 )
1998
46
Craniometaphyseal dysplasia in six generations of a German kindred. ( 9605583 )
1998
47
Foramen magnum decompression for cervicomedullary encroachment in craniometaphyseal dysplasia: case report. ( 9316062 )
1997
48
The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. ( 9382103 )
1997
49
Bilateral choanal narrowing as a presentation of craniometaphyseal dysplasia. ( 9210083 )
1997
50
Craniometaphyseal dysplasia as a rare cause of a severe neonatal nasal obstruction. ( 8770684 )
1996

Variations for Craniometaphyseal Dysplasia

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

71
id 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:

6
id 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.1165G> A (p.Gly389Arg) single nucleotide variant Pathogenic rs28939080 GRCh37 Chromosome 5, 14713753: 14713753
3 ANKH ANKH, IVS9, A-G, -4 single nucleotide variant Pathogenic
4 ANKH NM_054027.4(ANKH): c.1123_1125delTCC (p.Ser375del) deletion Pathogenic rs121908406 GRCh37 Chromosome 5, 14716831: 14716833
5 ANKH NM_054027.4(ANKH): c.1015T> C (p.Cys339Arg) single nucleotide variant Pathogenic rs267606656 GRCh37 Chromosome 5, 14716941: 14716941
6 ANKH NM_054027.4(ANKH): c.1172T> C (p.Leu391Pro) single nucleotide variant Pathogenic rs267606658 GRCh37 Chromosome 5, 14713746: 14713746
7 ANKH NM_054027.4(ANKH): c.1001T> G (p.Leu334Arg) single nucleotide variant Pathogenic rs267606657 GRCh37 Chromosome 5, 14741946: 14741946
8 GJA1 NM_000165.4(GJA1): c.716G> A (p.Arg239Gln) single nucleotide variant Pathogenic rs764670582 GRCh37 Chromosome 6, 121768709: 121768709

Expression for Craniometaphyseal Dysplasia

Search GEO for disease gene expression data for Craniometaphyseal Dysplasia.

Pathways for Craniometaphyseal Dysplasia

GO Terms for Craniometaphyseal Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 8.8 BMP1 COL10A1 LOXL2

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

id Name GO ID Score Top Affiliating Genes
1 endothelial cell migration GO:0043542 8.96 CALCA LOXL2
2 skeletal system development GO:0001501 8.92 ANKH BMP1 COL10A1 DLL3

Sources for Craniometaphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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