Details of Disease | DrugMAP

General Information of Disease (ID: DISI0OIU)

Disease Name	Obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome
Synonyms	retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness
Definition	OBSOLETE. Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.\|Reason: out of scope. Requested by ClinGen retinal experts to obsolete this term.
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISI0OIU: Obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RPGR	TTHBDA9	Strong	X-linked	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RPGR	OTJ7O69I	Strong	X-linked	[1]
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References

1	RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet. 2003 Aug;40(8):609-15. doi: 10.1136/jmg.40.8.609.