Details of Disease

General Information of Disease (ID: DISDS4LE)

Disease Name Focal facial dermal dysplasia type IV
Synonyms focal Facial dermal dysplasia type 4; FFDD4; focal facial dermal dysplasia 4; FFDD type IV; focal facial preauricular dysplasia
Definition Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.
Disease Hierarchy
DISYK1OV: Focal facial dermal dysplasia
DISDS4LE: Focal facial dermal dysplasia type IV
Disease Identifiers
MONDO ID
MONDO_0013997
MESH ID
D000090303
UMLS CUI
C3554246
OMIM ID
614974
MedGen ID
767160
Orphanet ID
398189
SNOMED CT ID
789161001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP26C1 DEXNDR0 Strong Autosomal recessive [1]
CYP26C1 DEXNDR0 Strong GermlineCausalMutation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CYP26C1 OTJSM0V3 Strong Autosomal recessive [1]
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References

1 CYP26A1 and CYP26C1 cooperatively regulate anterior-posterior patterning of the developing brain and the production of migratory cranial neural crest cells in the mouse. Dev Biol. 2007 Feb 15;302(2):399-411. doi: 10.1016/j.ydbio.2006.09.045. Epub 2006 Sep 30.
2 Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet. 2013 Feb 15;22(4):696-703. doi: 10.1093/hmg/dds477. Epub 2012 Nov 16.