Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
4 OMIM references -
1 associated gene
6 signs/symptoms
Craniometaphyseal dysplasia
Chronic intestinal pseudoobstruction

ANKH FLNA
GJA1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Craniometaphyseal dysplasia
ANKH GJA1
Chronic intestinal pseudoobstruction
FLNA



Craniometaphyseal dysplasia
Chronic intestinal pseudoobstruction

Synonym(s):
- CMD

Synonym(s):
- CIPO

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
(no data available)

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the digestive 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:
4 OMIM references -
No MeSH references

Craniometaphyseal dysplasia
Chronic intestinal pseudoobstruction

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


Very frequent
- Intestinal / colonic anomaly

Frequent
- Gastric / pyloric stenosis
- Intestinal / gut / bowel malrotation
- Structural anomalies of the nervous system

Occasional
- Patent ductus arteriosus
- Platelets shape anomalies