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1 OMIM reference -
1 associated gene
16 signs/symptoms
PROTEIN INTERACTIONS: 1
2 associated genes
No signs/symptoms info
EEM syndrome
Hepatocellular carcinoma, childhood-onset

CDH3 CTNNB1
MET


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDH3
(0.86)
CTNNB1



Citations in the biomedical literature:


EEM syndrome
CDH3
Hepatocellular carcinoma, childhood-onset
CTNNB1 MET



EEM syndrome
Hepatocellular carcinoma, childhood-onset

Synonym(s):
- Ectodermal dysplasia - ectrodactyly - macular dystrophy

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic

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

EEM syndrome

Very frequent
- Autosomal recessive inheritance
- Decreased body hair / axillar / pubic hairlessness
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Macular dystrophy / absence / hypoplasia of the macula
- Oligodactyly / ectrodactyly of fingers
- Retinitis pigmentosa / retinal pigmentary changes
- Retinopathy
- Tooth shape anomaly

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Absent / decreased / thin eyebrows
- Anodontia / oligodontia / hypodontia
- Anomalies of eyes and vision
- Complete / partial microdontia
- Multiple caries
- Syndactyly of fingers / interdigital palm

Occasional
- Strabismus / squint


Hepatocellular carcinoma, childhood-onset

(no data available)