ODCs

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1 OMIM reference -
1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
2 associated genes
10 signs/symptoms

EEM syndrome

Lethal acantholytic epidermolysis bullosa

CDH3	(UniProt - OMIM)		DSP	(UniProt - OMIM)
			JUP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CDH3	(0.74)	JUP

Citations in the biomedical literature:

EEM syndrome		Lethal acantholytic epidermolysis bullosa
	Synonym(s): - Ectodermal dysplasia - ectrodactyly - macular dystrophy		Synonym(s): - LAEB

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare skin 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: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535493


COMMON SIGNS	- Autosomal recessive inheritance

EEM syndrome		Lethal acantholytic epidermolysis bullosa
	Very frequent - 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		Very frequent - Absent / small fingernails / anonychia of hands - Alopecia - Chronic skin infection / ulcerations / ulcers / cancrum - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Premature eruption of teeth / natal teeth - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Cardiomyopathy / hypertrophic / dilated - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis