Details of Disease | DrugMAP

General Information of Disease (ID: DISOCDDU)

Disease Name	Norrie disease
Synonyms	NDP; nd; Norrie syndrome; pseudoglioma; Norrie-Warburg syndrome; fetal iritis syndrome; foetal iritis syndrome; Anderson-Warburg syndrome; ND; Norrie disease; Norrie-Warburg disease; atrophia bulborum hereditaria; Episkopi blindness; Norrie disease, X-linked recessive
Definition	A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.
Disease Hierarchy	DIST86NS: Congenital vitreoretinal dysplasia DISOCDDU: Norrie disease
Disease Identifiers	MONDO ID MONDO_0010691 MESH ID C537849 UMLS CUI C0266526 OMIM ID 310600 MedGen ID 75615 HPO ID HP:6000262 Orphanet ID 649 SNOMED CT ID 15228007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MAOA	TT3WG5C	moderate	Genetic Variation	[1]
MAOB	TTGP7BY	moderate	Genetic Variation	[1]
KIR2DL1	TT4UXPE	Strong	Genetic Variation	[2]
OAT	TTTSCQ2	Strong	Genetic Variation	[3]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C9	OT7I5FDX	Strong	Biomarker	[4]
CMAS	OTFQJG3C	Strong	Biomarker	[5]
EFHC2	OTI459M8	Strong	Genetic Variation	[6]
FZD4	OTGLZIE0	Strong	Biomarker	[7]
HMCES	OTVRDL6U	Strong	Biomarker	[8]
NDP	OTGDJ4US	Definitive	X-linked	[9]
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⏷ Show the Full List of 6 DOT(s)

References

1	Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.J Med Genet. 2010 Nov;47(11):786-90. doi: 10.1136/jmg.2010.079301. Epub 2010 Aug 2.
2	X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.Hum Mol Genet. 1993 Aug;2(8):1295-7. doi: 10.1093/hmg/2.8.1295.
3	Ornithine aminotransferase (OAT): recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus.Genomics. 1990 Jan;6(1):123-8. doi: 10.1016/0888-7543(90)90456-5.
4	Deficiency of complement defense protein CD59 may contribute to neurodegeneration in Alzheimer's disease.J Neurosci. 2000 Oct 15;20(20):7505-9. doi: 10.1523/JNEUROSCI.20-20-07505.2000.
5	Nutritional dwarfing: a growth abnormality associated with reduced erythrocyte Na+,K(+)-ATPase activity.Am J Clin Nutr. 1991 Dec;54(6):997-1004. doi: 10.1093/ajcn/54.6.997.
6	Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.Am J Med Genet A. 2007 May 1;143A(9):916-20. doi: 10.1002/ajmg.a.31521.
7	Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.Invest Ophthalmol Vis Sci. 2019 Jan 2;60(1):93-97. doi: 10.1167/iovs.18-25142.
8	The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.Hum Mol Genet. 1992 May;1(2):83-9. doi: 10.1093/hmg/1.2.83.
9	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.