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FLASH GENE

Symbol

NDP

contributors: shn - updated : 24-05-2017

HGNC name	Norrie disease (pseudoglioma)
HGNC id	7678

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ND , EVR2 , COATS

related resource

Retinal Information Network

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     partly deleted in several typical Norrie Disease patients

Susceptibility

to retinopathy of prematurity (ROP)

Variant & Polymorphism other	deletion within the non-coding region was associated with only mild-regressed ROP (Dickinson 2006)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	NDP mutant mice develop retrolental structures in the vitreous body and show an overall disorganization of the retinal ganglion cell layer
	Norrin-/y mice have a leaky and aberrant retinal vasculature