Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 2
Craniometaphyseal dysplasia
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

ANKH CTNNA3
GJA1 DSC2
DSG2
DSP
JUP
LMNA
PKP2
RYR2
TGFB3
TMEM43
TTN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA1
GJA1
(0.63)
(0.56)
TMEM43
DSC2



Citations in the biomedical literature:


Craniometaphyseal dysplasia
ANKH GJA1
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
CTNNA3 DSC2 DSG2 DSP JUP LMNA
PKP2 RYR2 TGFB3 TMEM43 TTN



Craniometaphyseal dysplasia
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

Synonym(s):
- CMD

Synonym(s):
- Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
- Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form
- Familial isolated arrhythmogenic ventricular dysplasia, classic form

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

Craniometaphyseal dysplasia

Very frequent
- Autosomal dominant inheritance
- Broad nasal root
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Depressed nasal bridge
- Hypertelorism
- Metaphyseal anomaly
- Osteosclerosis / osteopetrosis / bone condensation

Frequent
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Telecanthus / canthal dystopy

Occasional
- Conductive deafness / hearing loss
- Cranial nerve anomalies
- Facial palsy
- Sensorineural deafness / hearing loss
- Visual loss / blindness / amblyopia


Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

(no data available)