Details of Disease

General Information of Disease (ID: DIS5TX0M)

Disease Name Cranioectodermal dysplasia 3
Synonyms CRANIOECTODERMAL dysplasia 3; CED3; cranioectodermal dysplasia 3; cranioectodermal dysplasia caused by mutation in IFT43; Cranioectodermal dysplasia type 3; IFT43 cranioectodermal dysplasia
Definition Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.
Disease Hierarchy
DISW7Y64: Cranioectodermal dysplasia
DIS5TX0M: Cranioectodermal dysplasia 3
Disease Identifiers
MONDO ID
MONDO_0013573
UMLS CUI
C3279807
OMIM ID
614099
MedGen ID
481437

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANKH OTCN25R5 Definitive Biomarker [1]
IFT43 OTKWYQ5C Definitive Autosomal recessive [2]
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References

1 Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.J Bone Miner Res. 2009 Jul;24(7):1206-15. doi: 10.1359/jbmr.090218.
2 C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet. 2011 Jun;48(6):390-5. doi: 10.1136/jmg.2011.088864. Epub 2011 Mar 4.