Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cranioectodermal dysplasia 3

Cranioectodermal dysplasia 3 is an autosomal recessive disorder with congenital skeletal malformations and ectodermal defects. Ocular abnormalities include retinitis pigmentosa. The renal phenotype is a nephronophthisis. The disease is caused by mutations of the IFT43 gene.

Systematic

Cranioectodermal dysplasia
Cranioectodermal dysplasia 1
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 3
IFT43
Cranioectodermal dysplasia 4

References:

1.

Walczak-Sztulpa J et al. (2010) Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

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2.

Gilissen C et al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

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3.

Arts HH et al. (2011) C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.

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4.

OMIM.ORG article

Omim 614099 [^]
5.

Orphanet article

Orphanet ID 79373 [^]
Update: April 29, 2019