Details of Disease | DrugMAP

General Information of Disease (ID: DISLQBDE)

Disease Name	EEM syndrome
Synonyms	ectodermal dysplasia, ectrodactyly, and macular dystrophy; EEMS; ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome; ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome; EEM syndrome
Definition	EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DISLRS4M: Ectodermal dysplasia DISEYSYY: Hereditary macular dystrophy DISLQBDE: EEM syndrome
Disease Identifiers	MONDO ID MONDO_0009155 MESH ID C536190 UMLS CUI C1857041 OMIM ID 225280 MedGen ID 341679 Orphanet ID 1897 SNOMED CT ID 720856002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDH3	TTARMD9	Limited	Biomarker	[1]
CDH3	TTARMD9	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDH3	OTKNLQU7	Definitive	Autosomal recessive	[2]
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References

1	New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.BMC Med Genet. 2017 Jan 7;18(1):1. doi: 10.1186/s12881-016-0364-5.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.