Details of Disease | DrugMAP

General Information of Disease (ID: DISZFJUT)

Disease Name	Ectodermal dysplasia-syndactyly syndrome
Synonyms	ectodermal dysplasia-syndactyly syndrome 1; EDSS1; EDSS; ectodermal dysplasia-syndactyly syndrome type 1
Definition	Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.
Disease Hierarchy	DISLRS4M: Ectodermal dysplasia DISZFJUT: Ectodermal dysplasia-syndactyly syndrome
Disease Identifiers	MONDO ID MONDO_0013311 UMLS CUI C4749852 MedGen ID 1648397 Orphanet ID 247820 SNOMED CT ID 771335004

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	Supportive	Autosomal recessive	[1]
NECTIN4	TTPO9EG	Strong	Genetic Variation	[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	Supportive	Autosomal recessive	[1]
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References

1	Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Am J Hum Genet. 2010 Aug 13;87(2):265-73. doi: 10.1016/j.ajhg.2010.07.003.
2	A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1.Ann Hum Genet. 2015 Mar;79(2):92-8. doi: 10.1111/ahg.12094. Epub 2014 Dec 22.