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2 OMIM references -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
17 signs/symptoms
Craniometaphyseal dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia

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
Ehlers-Danlos syndrome with periventricular heterotopia
FLNA



Craniometaphyseal dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia

Synonym(s):
- CMD

Synonym(s):
- EDS with periventricular heterotopia

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic 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:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: x-linked dominant

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

Craniometaphyseal dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia

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
- Gastric / pyloric stenosis
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Herniae
- Scoliosis
- X-linked dominant inheritance

Frequent
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Cardiac valvulopathy
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Patent ductus arteriosus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Structural anomalies of the nervous system
- Thin skin

Occasional
- Aortic root dilatation / dilation / aneurysm
- Patella dislocation
- Shoulder dislocation