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Ectodermal dysplasia-syndactyly syndrome

Disease ID:1270
Name:Ectodermal dysplasia-syndactyly syndrome
Associated with:1 target
Description
A rare autosomal recessive disorder that is characterised by sparse to absent scalp hair, eyebrows, and eyelashes, cutaneous syndactyly and teeth abnormalities.
Database Links
OMIM: 613573
Orphanet: ORPHA247820

Targets

nectin cell adhesion molecule 4
Role:  Homozygous or compound heterozygous mutation in the NECTIN4 gene cause EDSS1.
References:  1-2

Ligands

No ligand related data available for Ectodermal dysplasia-syndactyly syndrome

References

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1. Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M et al.. (2010) Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Am. J. Hum. Genet., 87 (2): 265-73. [PMID:20691405]

2. Jelani M, Chishti MS, Ahmad W. (2011) Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1). J. Hum. Genet., 56 (5): 352-7. [PMID:21346770]