Details of Disease

General Information of Disease (ID: DISVDQEA)

Disease Name Ectodermal dysplasia-syndactyly syndrome 1
Synonyms EDSS1; ectodermal dysplasia-syndactyly syndrome 1; ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4; NECTIN4 ectodermal dysplasia-syndactyly syndrome
Definition Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.
Disease Hierarchy
DISZFJUT: Ectodermal dysplasia-syndactyly syndrome
DISVDQEA: Ectodermal dysplasia-syndactyly syndrome 1
Disease Identifiers
MONDO ID
MONDO_0024565
UMLS CUI
C3150807
OMIM ID
613573
MedGen ID
462157

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
NECTIN4 TTPO9EG Strong Biomarker [1]
NECTIN4 TTPO9EG 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
NECTIN4 OTJSFW1L Definitive Autosomal recessive [2]
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References

1 A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.Int J Dermatol. 2018 Feb;57(2):223-226. doi: 10.1111/ijd.13862. Epub 2017 Dec 19.
2 [Association of ectodermal dysplasia and syndactylia]. Ann Dermatol Venereol. 1991;118(2):107-10.