KEGG DISEASE: Cranioectodermal dysplasia

DISEASE: Cranioectodermal dysplasia

Entry

H00529                      Disease

Name

Cranioectodermal dysplasia

Description

Cranioectodermal dysplasia (CED) is a rare disorder characterized by defects of ectoderm-derived structures with typical craniofacial appearances, skeletal deformities and tubulointerstitial nephritis. The craniofacial features include dolichocephaly, sagittal craniosynostosis, and hypodontia.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00529  Cranioectodermal dysplasia

Gene

(CED1) IFT122 [HSA:55764] [KO:K19656]
(CED2) WDR35 [HSA:57539] [KO:K19674]
(CED3) IFT43 [HSA:112752] [KO:K19675]
(CED4) WDR19 [HSA:57728] [KO:K19671]
(CED5) IFT140 [HSA:9742] [KO:K19672]

Other DBs

ICD-11:

LD27.0Y

MeSH:

C562966

OMIM:

218330 613610 614099 614378 621180

Reference

PMID:21108387

Authors

Brugmann SA, Cordero DR, Helms JA

Title

Craniofacial ciliopathies: A new classification for craniofacial disorders.

Journal

Am J Med Genet A 152A:2995-3006 (2010)
DOI:10.1002/ajmg.a.33727

Reference

PMID:19760621

Authors

Konstantinidou AE, Fryssira H, Sifakis S, Karadimas C, Kaminopetros P, Agrogiannis G, Velonis S, Nikkels PG, Patsouris E

Title

Cranioectodermal dysplasia: a probable ciliopathy.

Journal

Am J Med Genet A 149A:2206-11 (2009)
DOI:10.1002/ajmg.a.33013

Reference

PMID:20493458 (CED1)

Authors

Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW

Title

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

Journal

Am J Hum Genet 86:949-56 (2010)
DOI:10.1016/j.ajhg.2010.04.012

Reference

PMID:20817137 (CED2)

Authors

Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG

Title

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Journal

Am J Hum Genet 87:418-23 (2010)
DOI:10.1016/j.ajhg.2010.08.004

Reference

PMID:21378380 (CED3)

Authors

Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R

Title

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.

Journal

J Med Genet 48:390-5 (2011)
DOI:10.1136/jmg.2011.088864

Reference

PMID:22019273 (CED4)

Authors

Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbo M, Filhol E, Bole-Feysot C, Nitschke P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rodahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH

Title

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19.

Journal

Am J Hum Genet 89:634-43 (2011)
DOI:10.1016/j.ajhg.2011.10.001

Reference

PMID:32007091 (CED5)

Authors

Walczak-Sztulpa J, Posmyk R, Bukowska-Olech EM, Wawrocka A, Jamsheer A, Oud MM, Schmidts M, Arts HH, Latos-Bielenska A, Wasilewska A

Title

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.

Journal

Orphanet J Rare Dis 15:36 (2020)
DOI:10.1186/s13023-020-1303-2

LinkDB

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