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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
16 signs/symptoms

Pilomatrixoma

EEM syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Pilomatrixoma		EEM syndrome
	Synonym(s): - Epithelioma calcificans of Malherbe - Pilomatricoma		Synonym(s): - Ectodermal dysplasia - ectrodactyly - macular dystrophy

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

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

	Epidemiological data: (no data available)		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 - 1 MeSH reference: D018296		External references: 1 OMIM reference - 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
Pilomatrixoma
(no data available)