CMDR
MCID: CRN240
MIFTS: 24

Craniometaphyseal Dysplasia, Autosomal Recessive (CMDR)

Categories: Bone 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 58 76 13
Craniometaphyseal Dysplasia, Autosomal Recessive Type 54 30 6 74
Cmdr 58 54 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
see )


HPO:

33
craniometaphyseal dysplasia, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Craniometaphyseal Dysplasia, Autosomal Recessive

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 (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)

MalaCards based summary : Craniometaphyseal Dysplasia, Autosomal Recessive, also known as craniometaphyseal dysplasia, autosomal recessive type, 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). Affiliated tissues include bone, and related phenotypes are macrocephaly and hypertelorism

NIH Rare Diseases : 54 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 : 76 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 11.9
2 vaccinia 10.4

Symptoms & Phenotypes for Craniometaphyseal Dysplasia, Autosomal Recessive

Human phenotypes related to Craniometaphyseal Dysplasia, Autosomal Recessive:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 hypertelorism 33 HP:0000316
3 facial palsy 33 HP:0010628
4 coarse facial features 33 HP:0000280
5 mandibular prognathia 33 HP:0000303
6 wide nasal bridge 33 HP:0000431
7 optic atrophy 33 HP:0000648
8 broad alveolar ridges 33 HP:0000187
9 abnormality of the thorax 33 HP:0000765
10 telecanthus 33 HP:0000506
11 metaphyseal dysplasia 33 HP:0100255
12 flared metaphysis 33 HP:0003015
13 facial hyperostosis 33 HP:0005465
14 delayed eruption of permanent teeth 33 HP:0000696
15 mixed hearing impairment 33 HP:0000410
16 nasal obstruction 33 HP:0001742
17 club-shaped distal femur 33 HP:0006384
18 bony paranasal bossing 33 HP:0004407
19 abnormality of the nasopharynx 33 HP:0001739
20 patchy sclerosis of finger phalanx 33 HP:0009772

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
facial palsy
normal intelligence

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

Head And Neck Eyes:
hypertelorism
optic atrophy
dystopia canthorum

Head And Neck Face:
coarse facial features

Head And Neck Nose:
broad nasal bridge
bony paranasal bossing

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

Drugs & Therapeutics for Craniometaphyseal Dysplasia, Autosomal Recessive

Search Clinical Trials , 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 Type 30 GJA1

Anatomical Context for Craniometaphyseal Dysplasia, Autosomal Recessive

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

42
Bone

Publications for Craniometaphyseal Dysplasia, Autosomal Recessive

Articles related to Craniometaphyseal Dysplasia, Autosomal Recessive:

# Title Authors Year
1
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. ( 23951358 )
2013
2
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
3
Temporal aspects in craniometaphyseal dysplasia: autosomal recessive type. ( 9508244 )
1998

Variations for Craniometaphyseal Dysplasia, Autosomal Recessive

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

76
# Symbol AA change Variation ID SNP ID
1 GJA1 p.Arg239Gln VAR_070441 rs764670582

ClinVar genetic disease variations for Craniometaphyseal Dysplasia, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA1 NM_000165.5(GJA1): c.716G> A (p.Arg239Gln) single nucleotide variant Likely pathogenic rs764670582 GRCh37 Chromosome 6, 121768709: 121768709
2 GJA1 NM_000165.5(GJA1): c.716G> A (p.Arg239Gln) single nucleotide variant Likely pathogenic rs764670582 GRCh38 Chromosome 6, 121447563: 121447563

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

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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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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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