Details of Disease

General Information of Disease (ID: DISHCH8Y)

• Disease Name: Cleft lip/palate-ectodermal dysplasia syndrome
• Synonyms: cleft lip-palate-ectodermal dysplasia syndrome; autosomal recessive ectodermal dysplasia; orofacial cleft 7; cleft lip/palate-syndactyly-pili torti; ectodermal dysplasia, margarita Island type; cleft lip with or without cleft palate, nonsyndromic, 7; Bustos Simosa pinto Cisternas syndrome; ectodermal dysplasia, type 4; ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly; CLPED1; CLEPD; Zlotogora syndrome; ectodermal dysplasia type 4; ED4; ectodermal dysplasia margarita island type; ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly; Zlotogora-Ogur syndrome; cleft lip/palate-ectodermal dysplasia syndrome; Zlotogora-Zilberman-Tenenbaum syndrome; margarita type of ectodermal dysplasia; cleft lip/palate-syndactyly-pili torti syndrome; syndactyly-ectodermal dysplasia-cleft/lip palate
• Definition: An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
• Disease Hierarchy:
  DISCPWH9: Autosomal recessive disease
  DISLRS4M: Ectodermal dysplasia
  DIST1HG6: Orofacial cleft
  DISHCH8Y: Cleft lip/palate-ectodermal dysplasia syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009151
  MESH ID: C536726
  UMLS CUI: C2931488
  OMIM ID: 225060
  MedGen ID: 444067
  Orphanet ID: 3253
  SNOMED CT ID: 716248001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NECTIN1	OTTE5ZR6	Strong	Autosomal recessive	[1]

References

• [1] Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet. 2000 Aug;25(4):427-30. doi: 10.1038/78119.