Craniometaphyseal Dysplasia, Autosomal Recessive (CMDR)

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

Aliases & Classifications for Craniometaphyseal Dysplasia, Autosomal Recessive

MalaCards integrated aliases for Craniometaphyseal Dysplasia, Autosomal Recessive:

Name: Craniometaphyseal Dysplasia, Autosomal Recessive 57 72 29 13 6
Cmdr 57 20 72
Craniometaphyseal Dysplasia, Autosomal Recessive Type 20 70
Dysplasia, Craniometaphyseal, Autosomal Recessive 39
Autosomal Recessive Craniometaphyseal Dysplasia 12



57 (Updated 05-Apr-2021)
autosomal recessive

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craniometaphyseal dysplasia, autosomal recessive:
Inheritance autosomal recessive inheritance


External Ids:

Disease Ontology 12 DOID:0080802
OMIM® 57 218400
OMIM Phenotypic Series 57 PS123000
MedGen 41 C2931244
UMLS 70 C2931244

Summaries for Craniometaphyseal Dysplasia, Autosomal Recessive

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 (CMDD; 123000) and autosomal recessive 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, whereas the recessive form is rare, severe, and possibly heterogeneous. (218400) (Updated 05-Apr-2021)

MalaCards based summary : Craniometaphyseal Dysplasia, Autosomal Recessive, also known as cmdr, is related to craniometaphyseal dysplasia, autosomal dominant and vaccinia. An important gene associated with Craniometaphyseal Dysplasia, Autosomal Recessive is GJA1 (Gap Junction Protein Alpha 1). The drugs Aluminum hydroxide and Emtricitabine have been mentioned in the context of this disorder. Related phenotypes are macrocephaly and facial palsy

Disease Ontology : 12 A craniometaphyseal dysplasia that has material basis in homozygous mutation in the GJA1 gene on chromosome 6q22.

GARD : 20 Autosomal recessive 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 bone in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves. The condition is caused by mutations in the GJA1 gene. As the name suggests, it is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive, and may include surgery to relieve cranial pressure and correct facial deformities.

UniProtKB/Swiss-Prot : 72 Craniometaphyseal dysplasia, autosomal recessive: 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.

Related Diseases for Craniometaphyseal Dysplasia, Autosomal Recessive

Diseases in the Craniometaphyseal Dysplasia, Autosomal Dominant family:

Craniometaphyseal Dysplasia, Autosomal Recessive

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

# Related Disease Score Top Affiliating Genes
1 craniometaphyseal dysplasia, autosomal dominant 11.3
2 vaccinia 10.3

Symptoms & Phenotypes for Craniometaphyseal Dysplasia, Autosomal Recessive

Human phenotypes related to Craniometaphyseal Dysplasia, Autosomal Recessive:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 facial palsy 31 HP:0010628
3 coarse facial features 31 HP:0000280
4 hypertelorism 31 HP:0000316
5 mandibular prognathia 31 HP:0000303
6 wide nasal bridge 31 HP:0000431
7 optic atrophy 31 HP:0000648
8 telecanthus 31 HP:0000506
9 mixed hearing impairment 31 HP:0000410
10 metaphyseal dysplasia 31 HP:0100255
11 broad alveolar ridges 31 HP:0000187
12 delayed eruption of permanent teeth 31 HP:0000696
13 flared metaphysis 31 HP:0003015
14 nasal obstruction 31 HP:0001742
15 facial hyperostosis 31 HP:0005465
16 club-shaped distal femur 31 HP:0006384
17 abnormal thorax morphology 31 HP:0000765
18 abnormal nasopharynx morphology 31 HP:0001739
19 bony paranasal bossing 31 HP:0004407
20 patchy sclerosis of finger phalanx 31 HP:0009772

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:

Head And Neck Face:
coarse facial features

Head And Neck Teeth:
delayed eruption of permanent teeth

Skeletal Limbs:
metaphyseal flaring
gene valgum
dense diaphyses
club-shaped distal femora
humeri, radii, ulnae bowing

Respiratory Nasopharynx:
nasal obstruction leading to mouth breathing

Chest Ribs Sternum Clavicles And Scapulae:
mild anterior rib widening

Skeletal Hands:
metacarpal sclerosis
phalangeal sclerosis

Neurologic Central Nervous System:
facial palsy
normal intelligence

Head And Neck Eyes:
optic atrophy
dystopia canthorum

Head And Neck Nose:
bony paranasal bossing
broad nasal bridge

Head And Neck Ears:
mixed hearing loss

Head And Neck Mouth:
widened alveolar ridges

Skeletal Skull:
hyperostosis of cranial vault
enlarged mandible
hyperostosis of facial bones
obliteration of paranasal sinuses and mastoid

Clinical features from OMIM®:

218400 (Updated 05-Apr-2021)

Drugs & Therapeutics for Craniometaphyseal Dysplasia, Autosomal Recessive

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Aluminum hydroxide Approved, Investigational Phase 2 21645-51-2
Emtricitabine Approved, Investigational Phase 2 143491-57-0 60877
Tenofovir Experimental, Investigational Phase 2 147127-20-6 464205
4 Vaccines Phase 2
5 Immunologic Factors Phase 2
6 polysaccharide-K Phase 2
7 Reverse Transcriptase Inhibitors Phase 2
8 Antibodies Phase 1
9 Immunoglobulins Phase 1
10 Antibodies, Monoclonal Phase 1
11 Poly ICLC 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 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
5 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 Completed NCT02296541 Phase 1
6 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
7 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

Search NIH Clinical Center for Craniometaphyseal Dysplasia, Autosomal Recessive

Genetic Tests for Craniometaphyseal Dysplasia, Autosomal Recessive

Genetic tests related to Craniometaphyseal Dysplasia, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Craniometaphyseal Dysplasia, Autosomal Recessive 29 GJA1

Anatomical Context for Craniometaphyseal Dysplasia, Autosomal Recessive

Publications for Craniometaphyseal Dysplasia, Autosomal Recessive

Articles related to Craniometaphyseal Dysplasia, Autosomal Recessive:

(show all 36)
# Title Authors PMID Year
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. 6 57
23951358 2013
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 57
11146471 2000
Temporal aspects in craniometaphyseal dysplasia: autosomal recessive type. 57 61
9508244 1998
The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. 57
9382103 1997
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? 57
1956063 1991
Cervical spinal deformity in craniometaphyseal dysplasia. 57
3810462 1987
Autosomal recessive craniometaphyseal dysplasia. 57
7395899 1980
Craniometaphyseal dysplasia. 57
18170910 1974
Craniofacial surgery in craniometaphyseal dysplasia. 57
6021432 1967
Familial osteodystrophy of the skull and face. 57
13438973 1957
[Osseous leontiasis in the child; probable partial osteopetrosis]. 57
13335888 1956
Lt. Cmdr. Laura M. Cobb (1892-1981): Chief navy nurse who oversaw medical care in WWII civilian concentration camps. 61
32633202 2020
Induction of Identical IgG HIV-1 Envelope Epitope Recognition Patterns After Initial HIVIS-DNA/MVA-CMDR Immunization and a Late MVA-CMDR Boost. 61
32411138 2020
Controlled microwave derivatization reaction for reproducible trace analysis of budesonide in human plasma. 61
30598143 2019
Multivariate Cluster-Based Multifactor Dimensionality Reduction to Identify Genetic Interactions for Multiple Quantitative Phenotypes. 61
31380425 2019
Regulatory T cell abundance and activation status before and after priming with HIVIS-DNA and boosting with MVA-HIV/rgp140/GLA-AF may impact the magnitude of the vaccine-induced immune responses. 61
30121146 2018
The Impact of Well-Field Configuration on Contaminant Mass Removal and Plume Persistence for Homogeneous versus Layered Systems. 61
29755199 2017
Safety and Immunogenicity of PENNVAX-G DNA Prime Administered by Biojector 2000 or CELLECTRA Electroporation Device With Modified Vaccinia Ankara-CMDR Boost. 61
28968759 2017
Preferential Targeting of Conserved Gag Regions after Vaccination with a Heterologous DNA Prime-Modified Vaccinia Virus Ankara Boost HIV-1 Vaccine Regimen. 61
28701395 2017
CMDR based differential evolution identifies the epistatic interaction in genome-wide association studies. 61
28379338 2017
The impact of well-field configuration and permeability heterogeneity on contaminant mass removal and plume persistence. 61
28342351 2017
HIVIS-DNA or HIVISopt-DNA priming followed by CMDR vaccinia-based boosts induce both humoral and cellular murine immune responses to HIV. 61
28721397 2017
Significance of groundwater flux on contaminant concentration and mass discharge in the nonaqueous phase liquid (NAPL) contaminated zone. 61
27500747 2016
Combating multidrug-resistant Gram-negative bacteria with structurally nanoengineered antimicrobial peptide polymers. 61
27617798 2016
HIV-DNA Given with or without Intradermal Electroporation Is Safe and Highly Immunogenic in Healthy Swedish HIV-1 DNA/MVA Vaccinees: A Phase I Randomized Trial. 61
26121679 2015
Characterizing long-term contaminant mass discharge and the relationship between reductions in discharge and reductions in mass for DNAPL source areas. 61
23528743 2013
Immunization with multiple vaccine modalities induce strong HIV-specific cellular and humoral immune responses. 61
23035853 2012
An epirubicin-conjugated nanocarrier with MRI function to overcome lethal multidrug-resistant bladder cancer. 61
22374456 2012
Inclusion of a CRF01_AE HIV envelope protein boost with a DNA/MVA prime-boost vaccine: Impact on humoral and cellular immunogenicity and viral load reduction after SHIV-E challenge. 61
22234262 2012
Heterologous prime-boost regimens using rAd35 and rMVA vectors elicit stronger cellular immune responses to HIV proteins than homologous regimens. 61
23049876 2012
Phase I safety and immunogenicity evaluation of MVA-CMDR, a multigenic, recombinant modified vaccinia Ankara-HIV-1 vaccine candidate. 61
21085591 2010
Design and evaluation of multi-gene, multi-clade HIV-1 MVA vaccines. 61
19654066 2009
Gateways to clinical trials. 61
19536362 2009
Intrinsic MDR-1 gene and P-glycoprotein expression in human melanoma cell lines. 61
7960246 1994
Up and comers: Lt. Cmdr. Robert J. Burg, Maura Loughlin Carley, Pete Delgado, John P. Glaser, Glen Nessel, Kevin Potter, Laura J. Redoutey, Vicki Romero, Nancy Schlichting, Paul Viviano, Greg Wozniak, Lorraine Zippiroli. 61
10160762 1991
[Not Available]. 61
27237487 1989

Variations for Craniometaphyseal Dysplasia, Autosomal Recessive

ClinVar genetic disease variations for Craniometaphyseal Dysplasia, Autosomal Recessive:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJA1 NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) SNV Pathogenic 64622 rs764670582 GRCh37: 6:121768709-121768709
GRCh38: 6:121447563-121447563

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

# Symbol AA change Variation ID SNP ID
1 GJA1 p.Arg239Gln VAR_070441 rs764670582

Expression for Craniometaphyseal Dysplasia, Autosomal Recessive

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

Pathways for Craniometaphyseal Dysplasia, Autosomal Recessive

GO Terms for Craniometaphyseal Dysplasia, Autosomal Recessive

Sources for Craniometaphyseal Dysplasia, Autosomal Recessive

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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