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EEM syndrome
1 OMIM reference -
1 associated gene
19 connected diseases
16 signs/symptoms
Disease Type of connection
Hypotrichosis with juvenile macular degeneration
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Congenital nephrotic syndrome, Finnish type
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial gastric cancer
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Gastric linitis plastica
Lethal acantholytic epidermolysis bullosa
Naxos disease
Growth delay due to insulin-like growth factor I resistance
Uveal coloboma - cleft lip and palate - intellectual deficit
Synonym(s):
- Ectodermal dysplasia - ectrodactyly - macular dystrophy
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CDH3 P22223114021
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