Details of Disease

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.