Details of Disease

General Information of Disease (ID: DISN81L4)

Disease Name Cranioectodermal dysplasia 1
Synonyms
Levin syndrome 1; Sensenbrenner syndrome; cranioectodermal dysplasia type 1; cranioectodermal dysplasia 1; CED1; cranioectodermal dysplasia caused by mutation in IFT122; IFT122 cranioectodermal dysplasia
Definition Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.
Disease Hierarchy
DISW7Y64: Cranioectodermal dysplasia
DISN81L4: Cranioectodermal dysplasia 1
Disease Identifiers
MONDO ID
MONDO_0021093
MESH ID
C562966
UMLS CUI
C0432235
OMIM ID
218330
MedGen ID
96586

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SPAG17 OTUF58WZ Limited Genetic Variation [1]
IFT52 OTFIVV9A moderate Genetic Variation [2]
DPH1 OT0QU3JY Strong Genetic Variation [3]
IFT43 OTKWYQ5C Strong Biomarker [4]
IFT122 OTSK3OAD Definitive Autosomal recessive [5]
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References

1 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.
2 Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.Hum Mol Genet. 2019 Aug 15;28(16):2720-2737. doi: 10.1093/hmg/ddz091.
3 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.
4 [Clinical features and mutational analysis of a case with Sensenbrenner syndrome].Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):426-428. doi: 10.3760/cma.j.issn.1003-9406.2018.03.027.
5 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.