Details of Disease | DrugMAP

General Information of Disease (ID: DISW7Y64)

Disease Name	Cranioectodermal dysplasia
Synonyms	Sensenbrenner syndrome; Levin syndrome; CED; cranioectodermal dysplasia
Definition	Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
Disease Hierarchy	DIS8FENM: Craniosynostosis syndrome, autosomal recessive DISZ75RJ: Inherited renal tubular disease DISY2RES: Short rib-polydactyly syndrome DISLRS4M: Ectodermal dysplasia DISEUVBK: Syndromic craniosynostosis DISW7Y64: Cranioectodermal dysplasia
Disease Identifiers	MONDO ID MONDO_0009032 UMLS CUI C4551571 MedGen ID 1641011 Orphanet ID 1515 SNOMED CT ID 254093009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WDR19	OTP5X5WA	Supportive	Autosomal recessive	[1]
WDR35	OTAFVPBO	Supportive	Autosomal recessive	[1]
SPAG17	OTUF58WZ	Limited	Genetic Variation	[2]
IFT122	OTSK3OAD	Supportive	Autosomal recessive	[1]
IFT43	OTKWYQ5C	Supportive	Autosomal recessive	[1]
IFT52	OTFIVV9A	Supportive	Autosomal recessive	[3]
DPH1	OT0QU3JY	Strong	Genetic Variation	[4]
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⏷ Show the Full List of 7 DOT(s)

References

1	Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Epub 2012 Jul 12.
2	Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.Eur J Med Genet. 2018 Mar;61(3):161-167. doi: 10.1016/j.ejmg.2017.11.011. Epub 2017 Nov 23.
3	A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. Clin Genet. 2016 Dec;90(6):536-539. doi: 10.1111/cge.12762. Epub 2016 Mar 15.
4	Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. Hum Mutat. 2015 Oct;36(10):1015-9. doi: 10.1002/humu.22843. Epub 2015 Aug 17.