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2 OMIM references -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
9 associated genes
13 signs/symptoms
Craniometaphyseal dysplasia
Tetralogy of Fallot

ANKH CITED2
GJA1 GATA4
GATA5
GATA6
GDF1
GJA5
JAG1
NKX2-5
ZFPM2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Craniometaphyseal dysplasia
ANKH GJA1
Tetralogy of Fallot
CITED2 GATA4 GATA5 GATA6 GDF1 GJA5
JAG1 NKX2-5 ZFPM2



Craniometaphyseal dysplasia
Tetralogy of Fallot

Synonym(s):
- CMD

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac 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: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D013771


COMMON
SIGNS
- Autosomal dominant inheritance


Craniometaphyseal dysplasia
Tetralogy of Fallot

Very frequent
- 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
- Broad forehead
- Clinodactyly of fifth finger
- Intrauterine growth retardation
- Long / large / bulbous nose
- Short hand / brachydactyly

Frequent
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Dolichocephaly / scaphocephaly
- Flat supraorbital ridge
- Proptosis / exophthalmos
- Tetralogy of Fallot / trilogy of Fallot
- Thin / retracted lips
- Undescended / ectopic testes / cryptorchidia / unfixed testes