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2 OMIM references -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
14 OMIM references -
17 associated genes
No signs/symptoms info
Craniometaphyseal dysplasia
Familial atrial fibrillation

ANKH ABCC9
GJA1 GATA4
GATA5
GATA6
GJA5
KCNA5
KCNE1
KCNE2
KCNJ2
KCNQ1
NKX2-5
NPPA
NUP155
PITX2
SCN1B
SCN2B
SCN5A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA1
(0.68)
GJA5



Citations in the biomedical literature:


Craniometaphyseal dysplasia
ANKH GJA1
Familial atrial fibrillation
ABCC9 GATA4 GATA5 GATA6 GJA5 KCNA5
KCNE1 KCNE2 KCNJ2 KCNQ1 NKX2-5 NPPA
NUP155 PITX2 SCN1B SCN2B SCN5A



Craniometaphyseal dysplasia
Familial atrial fibrillation

Synonym(s):
- CMD

Synonym(s):
(no synonyms)

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:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
14 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 atrial fibrillation

(no data available)