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2 OMIM references -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 2
7 OMIM references -
7 associated genes
No signs/symptoms info
Craniometaphyseal dysplasia
Pulverulent cataract

ANKH CRYBB1
GJA1 CRYGC
GJA3
GJA8
LIM2
MAF
VIM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA1
GJA1
(0.73)
(0.7)
GJA3
VIM



Citations in the biomedical literature:


Craniometaphyseal dysplasia
ANKH GJA1
Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM



Craniometaphyseal dysplasia
Pulverulent cataract

Synonym(s):
- CMD

Synonym(s):
- Dusty cataract

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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:
7 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


Pulverulent cataract

(no data available)