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2 OMIM references -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
5 OMIM references -
5 associated genes
No signs/symptoms info
Craniometaphyseal dysplasia
Autosomal dominant progressive external ophthalmoplegia

ANKH C10ORF2
GJA1 POLG
POLG2
RRM2B
SLC25A4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA1
(0.63)
SLC25A4



Citations in the biomedical literature:


Craniometaphyseal dysplasia
ANKH GJA1
Autosomal dominant progressive external ophthalmoplegia
C10ORF2 POLG POLG2 RRM2B SLC25A4



Craniometaphyseal dysplasia
Autosomal dominant progressive external ophthalmoplegia

Synonym(s):
- CMD

Synonym(s):
- adPEO

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

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

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:
5 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


Autosomal dominant progressive external ophthalmoplegia

(no data available)