Details of Disease | DrugMAP

General Information of Disease (ID: DISKDRMB)

Disease Name	IFT140-related recessive ciliopathy
Synonyms	retinitis pigmentosa 80; short-rib thoracic dysplasia 9 with or without polydactyly; IFT140-related recessive ciliopathy
Definition	Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.
Disease Hierarchy	DIS10G4I: Ciliopathy DISKDRMB: IFT140-related recessive ciliopathy

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IFT140	OT6KO5FH	Definitive	Autosomal recessive	[1]
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References

1	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.