Abstract is: Norrie disease is a rare disease and genetic disorder that primarily affects the eyes and almost always leads to blindness. It is caused by mutations in the Norrin cystine knot growth factor (NDP) gene, which is located on the X chromosome. In addition to the congenital ocular symptoms, the majority of patients experience a progressive hearing loss starting mostly in their 2nd decade of life, and some may have learning difficulties among other additional characteristics. Patients with Norrie disease may develop cataracts, leukocoria (where the pupils appear white when light is shone on them), along with other developmental issues in the eye, such as shrinking of the globe and the wasting away of the iris. Around 30 to 50% of them will also have developmental delay or learning difficulties, psychotic-like features, incoordination of movements or behavioral abnormalities. Most patients are born with normal hearing; however, the onset of hearing loss is very common in early adolescence. About 15% of patients are estimated to develop all the features of the disease. Due to the X-linked recessive pattern of inheritance, Norrie disease affects almost entirely males. Only in very rare cases, females have been diagnosed with Norrie disease; cases of symptomatic female carriers have been reported. It is a very rare disorder that is not associated with any specific ethnic or racial groups, with cases reported worldwide (including cases in North America, South America, Europe, Asia and Australasia). While more than 400 cases have been described, the prevalence and incidence of the disease still remains unknown.
| rare disease | Q929833 |
| class of disease | Q112193867 |
| developmental defect during embryogenesis | Q55788864 |
| head and neck disease | Q55789477 |
| syndrome | Q179630 |
| eye disease | Q3041498 |
| X-linked intellectual disability | Q8041560 |
| X-linked recessive disease | Q55010090 |
| syndromic developmental defect of the eye | Q55785336 |
| syndromic genetic deafness | Q55788734 |
| syndromic cataract | Q55789221 |
| congenital vitreoretinal dysplasia | Q55789243 |
| P699 | Disease Ontology ID | DOID:0060844 |
| P557 | DiseasesDB | 31165 |
| P2888 | exact match | http://identifiers.org/doid/DOID:0060844 |
| http://purl.obolibrary.org/obo/DOID_0060844 | ||
| http://www.orpha.net/ORDO/Orphanet_649 | ||
| P646 | Freebase ID | /m/06b03_ |
| P4317 | GARD rare disease ID | 7224 |
| P7464 | Genetics Home Reference Conditions ID | norrie-disease |
| P4229 | ICD-10-CM | H35.5 |
| P7807 | ICD-11 (foundation) | 676214590 |
| P493 | ICD-9 ID | 743.8 |
| P1692 | ICD-9-CM | 743.8 |
| P665 | KEGG ID | H02045 |
| P244 | Library of Congress authority ID | sh85092442 |
| P486 | MeSH descriptor ID | C537849 |
| P6366 | Microsoft Academic ID | 2776719946 |
| P5270 | Mondo ID | MONDO_0010691 |
| P8189 | National Library of Israel J9U ID | 987007533973205171 |
| P1748 | NCI Thesaurus ID | C118634 |
| P492 | OMIM ID | 310600 |
| 310600 | ||
| P1550 | Orphanet ID | 649 |
| P2892 | UMLS CUI | C0266526 |
| P11430 | UniProt disease ID | DI-02079 |
| P11143 | WikiProjectMed ID | Norrie disease |
| P2293 | genetic association | NDP | Q18029892 |
| P1995 | health specialty | medical genetics | Q1071953 |
| P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
| Q44081324 | A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants |
| Q41370464 | A bidirectional YAC walk from the Norrie disease (NDP) locus |
| Q79750931 | A characteristic phenotypic retinal appearance in Norrie disease |
| Q34332614 | A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease |
| Q24321645 | A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy |
| Q43007288 | A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy. |
| Q37417793 | A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family |
| Q94558774 | A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease |
| Q50101851 | A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits. |
| Q30349856 | A novel missense Norrie disease mutation associated with a severe ocular phenotype. |
| Q51906317 | A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. |
| Q41731241 | A novel mutation in the Norrie disease gene |
| Q34373965 | A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif |
| Q52053323 | Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report. |
| Q48067506 | An animal model for Norrie disease (ND): gene targeting of the mouse ND gene |
| Q60641469 | Analysis of the monoamine oxidase genes and the Norrie disease gene locus in narcolepsy |
| Q36589668 | Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene |
| Q36823037 | Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp). |
| Q31158406 | Characterization of a YAC containing part or all of the Norrie disease locus |
| Q33594688 | Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease) |
| Q67484964 | Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes |
| Q70109865 | Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome |
| Q42948954 | Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4 |
| Q84093606 | Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma |
| Q47612218 | Cochlear Implants and Psychiatric Assessments: a Norrie Disease Case Report |
| Q46418416 | Comparative genomics on Norrie disease gene |
| Q55043734 | Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy. |
| Q46665450 | Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation |
| Q42572327 | De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity |
| Q55421889 | Dendrobium nobile Lindley and its bibenzyl component moscatilin are able to protect retinal cells from ischemia/hypoxia by dowregulating placental growth factor and upregulating Norrie disease protein. |
| Q41580640 | Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning |
| Q90831961 | Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation |
| Q62089537 | Duplicate report crossing over in Norrie disease family |
| Q45269945 | Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice. |
| Q73828629 | Evaluation of the norrie disease gene in a family with incontinentia pigmenti |
| Q34700708 | Expression of the Norrie disease gene (Ndp) in developing and adult mouse eye, ear, and brain |
| Q50633114 | Familial cases of Norrie disease detected by copy number analysis. |
| Q28513611 | Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction |
| Q46595466 | First demonstration of recombination between the gene for Norrie disease and probe L1.28. |
| Q79384142 | Gene symbol: NDP. Disease: Norrie disease |
| Q33675793 | Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome |
| Q46703669 | Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR. |
| Q91036922 | Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease |
| Q31106006 | Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells |
| Q50772780 | Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal. |
| Q73521323 | Histopathological and immunohistochemical findings associated with a null mutation in the Norrie disease gene |
| Q52596981 | Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family. |
| Q48000151 | Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy |
| Q34426271 | Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity |
| Q73324728 | Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy |
| Q57304785 | Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families |
| Q102327872 | Impact of sight and hearing loss in patients with Norrie disease: advantages of Dual Sensory clinics in patient care |
| Q42862008 | In utero diagnosis of Norrie disease and early laser preserves visual acuity |
| Q72867941 | In-utero diagnosis of Norrie disease by ultrasonography |
| Q73806482 | Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity |
| Q77537915 | Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene |
| Q52517555 | Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family. |
| Q49171307 | Isolated Norrie disease in a female caused by a balanced translocation t(X,6). |
| Q33188641 | Isolation and characterization of a candidate gene for Norrie disease |
| Q31158480 | Isolation of a candidate gene for Norrie disease by positional cloning |
| Q67482936 | Isolation of a candidate gene for Norrie disease by positional cloning |
| Q68072729 | Keratotorus in Norrie disease |
| Q52541618 | Lack of association of the Norrie disease gene with retinoschisis phenotype. |
| Q71696588 | Lectin-histochemical study of O-linked glycoconjugates in dysplastic retina of Norrie disease |
| Q30502692 | Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase |
| Q34163954 | Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus |
| Q67737752 | Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp |
| Q60641504 | Localization of human monoamine oxidase-A gene to Xp11.23-11.4 by in situ hybridization: Implications for norrie disease |
| Q48133081 | Localization of the Norrie disease gene mRNA by in situ hybridization |
| Q52060270 | Marked amine and amine metabolite changes in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase. |
| Q28367938 | Migrainous brain stem disturbance in Norrie disease: case report |
| Q70821102 | Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy |
| Q73407181 | Missense mutations in norrie disease gene are not associated with advanced stages of retinopathy of prematurity in Kuwaiti arabs |
| Q24337005 | Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure |
| Q36915072 | Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR |
| Q34565859 | Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity |
| Q34301524 | Mutations in the Norrie disease gene |
| Q37313620 | Mutations in the Norrie disease gene: a new mutation in a Japanese family |
| Q40934945 | Norrie disease and MAO genes: nearest neighbors |
| Q50499284 | Norrie disease and exudative vitreoretinopathy in families with affected female carriers. |
| Q43007518 | Norrie disease and peripheral venous insufficiency |
| Q43590019 | Norrie disease as part of a complex syndrome explained by a submicroscopic deletion of the X chromosome |
| Q41769898 | Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis |
| Q35197383 | Norrie disease gene is distinct from the monoamine oxidase genes. |
| Q50511676 | Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency. |
| Q64094044 | Norrie disease gene polymorphism in Indonesian infants with retinopathy of prematurity |
| Q46624875 | Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. |
| Q48297214 | Norrie disease gene: characterization of deletions and possible function |
| Q52195556 | Norrie disease in a family with a manifesting female carrier. |
| Q34231849 | Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins |
| Q73960070 | Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix |
| Q33592428 | Norrie disease resulting from a gene deletion: clinical features and DNA studies |
| Q84353198 | Norrie disease vs familial exudative vitreoretinopathy |
| Q57250616 | Norrie disease: Extraocular clinical manifestations in 56 patients |
| Q62089538 | Norrie disease: Linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe |
| Q50430567 | Norrie disease: first mutation report and prenatal diagnosis in an Indian family. |
| Q93272171 | Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease |
| Q42661428 | Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy |
| Q50521873 | Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families. |
| Q43897401 | Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy |
| Q35590323 | Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family |
| Q34327766 | Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene. |
| Q94546406 | Ocular manifestations of Norrie disease |
| Q51006076 | Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene. |
| Q43450526 | Ornithine aminotransferase (OAT): recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus |
| Q33195205 | Overproduction and partial purification of the Norrie disease gene product, norrin, from a recombinant baculovirus |
| Q43117774 | Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. |
| Q50512238 | Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin. |
| Q46388418 | Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein |
| Q70140927 | Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase |
| Q53366502 | Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation. |
| Q100943642 | Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report |
| Q91039925 | Prenatal diagnosis of Norrie disease based on ultrasound findings |
| Q93358720 | Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease |
| Q39566051 | Prenatal exclusion of Norrie disease with flanking DNA markers |
| Q84667206 | Preterm treatment of Norrie disease |
| Q43540814 | Recombinational event between Norrie disease and DXS7 loci |
| Q88564155 | Refractory epilepsy in Norrie disease |
| Q36309304 | Repair of Total Tractional Retinal Detachment in Norrie Disease: Report of Technique and Successful Surgical Outcome |
| Q67887695 | Restriction enzyme analysis of Norrie disease pedigrees |
| Q52576988 | Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene. |
| Q43130566 | Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband |
| Q77518908 | Retinal vasculature changes in Norrie disease mice |
| Q73707164 | Retinopathy of prematurity: mutations in the Norrie disease gene and the risk of progression to advanced stages |
| Q36850487 | Retinoschisislike alterations in the mouse eye caused by gene targeting of the Norrie disease gene. |
| Q46670237 | Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature |
| Q51966365 | Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype. |
| Q74351776 | Study of the Norrie disease gene in 2 patients with bilateral persistent hyperplastic primary vitreous |
| Q31157639 | The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3. |
| Q44680267 | The ocular pathology of Norrie disease in a fetus of 11 weeks' gestational age |
| Q54446672 | Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome. |
| Q43598048 | Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier |
| Q57258216 | Two new missense mutations (A105T and C110G) in the Norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy |
| Q50977579 | Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype. |
| Q85214391 | Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study |
| Q40372539 | Voltage-dependent ion channels in the mouse RPE: comparison with Norrie disease mice |
| Q34409633 | X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein |
| Q43561540 | X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci? |
| Q70484932 | X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus |
| Q85406414 | [Analysis of gene mutation in a Chinese family with Norrie disease] |
| Q86013025 | [Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease] |
| Q91573066 | [Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease] |
| Q92548457 | [Norrie disease caused by a c.361C>T missense variant of the NDP gene in a pedigree] |
| Q56725380 | Maria Bitner-Glindzicz | field of work | P101 |
| Q18029892 | NDP | genetic association | P2293 |
| Arabic (ar / Q13955) | مرض نوري | wikipedia |
| Norrie-Syndrom | wikipedia | |
| Norrie disease | wikipedia | |
| Enfermedad de Norrie | wikipedia | |
| Persian (fa / Q9168) | بیماری نوری | wikipedia |
| Norrien tauti | wikipedia | |
| Sindrome di Norrie | wikipedia |
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