MCID: NRR002
MIFTS: 62

Norrie Disease

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Norrie Disease

MalaCards integrated aliases for Norrie Disease:

Name: Norrie Disease 54 12 50 24 25 56 71 13 14
Atrophia Bulborum Hereditaria 12 50 24 25 56 71 29
Episkopi Blindness 12 50 24 25 56 71
Pseudoglioma 50 24 52 69
Anderson-Warburg Syndrome 50 25
Norrie-Warburg Syndrome 50 25
Norrie-Warburg Disease 12 56
Fetal Iritis Syndrome 50 25
Norrie Syndrome 50 25
Congenital Progressive Oculo-Acoustico-Cerebral Degeneration 25
Oligophrenia Microphthalmus 25
Whitnall-Norman Syndrome 25
Pseudoglioma Congenita 25
Norrie's Disease 25
Ndp 50
Nd 71

Characteristics:

Orphanet epidemiological data:

56
norrie disease
Inheritance: Not applicable,X-linked recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
x-linked recessive

Miscellaneous:
eye involvement begins at birth, neurologic involvement begins later


HPO:

32
norrie disease:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Norrie Disease

NIH Rare Diseases : 50 norrie disease is an inheritedeye disorder that leads to blindness in male infants at birth or soon after birth. additional symptoms may occur in some cases, although this varies even among individuals in the same family. most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features. norrie disease is caused by mutations in the ndp gene. it is inherited in an x-linked recessive pattern. treatment is directed toward the specific symptoms present in each individual. the coordinated efforts of a team of specialists, including pediatricians, ophthalmologists, and audiologists may be needed. early intervention and special education services are important to ensure that children with norrie disease reach their full potential.   last updated: 3/11/2016

MalaCards based summary : Norrie Disease, also known as atrophia bulborum hereditaria, is related to osteoporosis-pseudoglioma syndrome and ndp-related retinopathies, and has symptoms including failure to thrive, scoliosis and optic atrophy. An important gene associated with Norrie Disease is NDP (NDP, Norrin Cystine Knot Growth Factor), and among its related pathways/superpathways are Wnt Signaling Pathway and Pluripotency and Wnt / Hedgehog / Notch. The drugs Antidepressive Agents and Antimanic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and cerebellum, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and cardiovascular system

UniProtKB/Swiss-Prot : 71 Norrie disease: Recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure.

Genetics Home Reference : 25 Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises (colored portions of the eyes) or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts (cloudiness in the lens of the eye) may eventually develop.

OMIM : 54
Norrie disease is an X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizures (Berger et al., 1992). Warburg (1966) noted confusion of the terms 'pseudoglioma' and microphthalmia with Norrie disease in the literature. 'Pseudoglioma' is a nonspecific term for any condition resembling retinoblastoma and can have diverse causes, including inflammation, hemorrhage, trauma, neoplasia, or congenital malformation, and often shows unilateral involvement. Thus, 'pseudoglioma' is not an acceptable clinical or pathologic diagnosis (Duke-Elder, 1958). (310600)

Disease Ontology : 12 A X-linked disease characterized by X-linked recessive inheritance of degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients that has material basis in mutation in the NDP gene on chromosome Xp11.

Wikipedia : 72 Norrie disease is a genetic disorder that primarily affects the eye and almost always leads to... more...

Related Diseases for Norrie Disease

Diseases related to Norrie Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
id Related Disease Score Top Affiliating Genes
1 osteoporosis-pseudoglioma syndrome 12.5
2 ndp-related retinopathies 12.2
3 atypical norrie disease due to monosomy xp11.3 12.0
4 ndp-related retinopathy of prematurity 11.8
5 persistent hyperplastic primary vitreous, autosomal recessive 10.8
6 conjunctival pigmentation 10.6 MAOA MAOB
7 multiple personality disorder 10.5 MAOA MAOB
8 pleurisy 10.5 MAOA MAOB
9 pyromania 10.5 MAOA MAOB
10 osteoporosis 10.5
11 amyloidosis, finnish type 10.4 MAOA MAOB
12 cerebral degeneration 10.4
13 cerebritis 10.4
14 pyogenic arthritis, pyoderma gangrenosum and acne 10.4 MAOA MAOB
15 parietal foramina 10.3 FZD4 NDP
16 hyperostosis, endosteal 10.3 FZD4 LRP5 NDP
17 astigmatism 10.3 FZD4 LRP5 NDP
18 exudative vitreoretinopathy 10.3
19 tongue disease 10.3 MAOA MAOB
20 retinitis 10.2
21 adult brain ependymoma 10.2 FZD4 NDP TSPAN12
22 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 10.1 FZD4 NDP TSPAN12
23 nevus of ota 10.1
24 aphasia 10.1 MAOA MAOB
25 scapuloperoneal myopathy 10.1 GREM1 GREM2 LRP5
26 vernal conjunctivitis 9.9 FZD4 LRP5 NDP TSPAN12
27 albinism, oculocutaneous, type ia 9.9 FZD4 LRP5 NDP TSPAN12
28 testicular granulosa cell tumor 9.9 FZD4 LRP5 NDP TSPAN12
29 venous insufficiency 9.8
30 epilepsy 9.8
31 retinal detachment 9.8
32 retinoschisis 9.8
33 incontinentia pigmenti 9.7
34 coats disease 9.7
35 pulmonary hypertension 9.7
36 persistent hyperplastic primary vitreous 9.7
37 turner syndrome 9.7
38 sleep disorder 9.7
39 moebius syndrome 9.7
40 prader-willi syndrome 9.7
41 x-linked familial exudative vitreoretinopathy 9.7
42 charcot-marie-tooth disease intermediate type 8.9 CRYZL1 FZD1 FZD4 LRP5 NDP TSPAN12
43 nystagmus 5, congenital, x-linked 5.2 CER1 CRYZL1 CUX1 EFHC2 FZD1 FZD4

Graphical network of the top 20 diseases related to Norrie Disease:



Diseases related to Norrie Disease

Symptoms & Phenotypes for Norrie Disease

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
optic atrophy
retinal detachment
microphthalmia
corneal opacities
cataract
more
Neurologic- Central Nervous System:
seizures (rare)
dementia (later onset)
mental retardation, progressive (50% of patients)

Neurologic- Behavioral Psychiatric Manifestations:
hallucinations
aggressive behavior
psychosis (25% of patients)

Head And Neck- Ears:
sensorineural deafness (onset in the second decade in 25 to 30% of patients)


Clinical features from OMIM:

310600

Human phenotypes related to Norrie Disease:

56 32 (show top 50) (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 occasional (7.5%) Occasional (29-5%) HP:0001508
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
4 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
5 retinal detachment 56 32 frequent (33%) Frequent (79-30%) HP:0000541
6 migraine 56 32 occasional (7.5%) Occasional (29-5%) HP:0002076
7 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 hypertonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001276
9 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
10 irritability 56 32 frequent (33%) Frequent (79-30%) HP:0000737
11 microphthalmia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000568
12 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
13 muscle weakness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001324
14 sclerocornea 56 32 hallmark (90%) Very frequent (99-80%) HP:0000647
15 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
16 hallucinations 56 32 occasional (7.5%) Occasional (29-5%) HP:0000738
17 clonus 56 32 occasional (7.5%) Occasional (29-5%) HP:0002169
18 blindness 56 32 hallmark (90%) Very frequent (99-80%) HP:0000618
19 cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0000518
20 autism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000717
21 thin vermilion border 56 32 occasional (7.5%) Occasional (29-5%) HP:0000233
22 cerebral cortical atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002120
23 delayed puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000823
24 psychosis 56 32 frequent (33%) Frequent (79-30%) HP:0000709
25 self-injurious behavior 56 32 occasional (7.5%) Occasional (29-5%) HP:0100716
26 diabetes mellitus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000819
27 hypotelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000601
28 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
29 developmental regression 56 32 occasional (7.5%) Occasional (29-5%) HP:0002376
30 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
31 anxiety 56 32 frequent (33%) Frequent (79-30%) HP:0000739
32 ectopia lentis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001083
33 malar flattening 56 32 occasional (7.5%) Occasional (29-5%) HP:0000272
34 hypoplasia of the iris 56 32 hallmark (90%) Very frequent (99-80%) HP:0007676
35 narrow nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000446
36 cachexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0004326
37 attention deficit hyperactivity disorder 56 32 occasional (7.5%) Occasional (29-5%) HP:0007018
38 macrotia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000400
39 sleep disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0002360
40 anterior chamber synechiae 56 32 hallmark (90%) Very frequent (99-80%) HP:0007833
41 eeg abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0002353
42 abnormality of the helix 56 32 occasional (7.5%) Occasional (29-5%) HP:0011039
43 stereotypy 56 32 frequent (33%) Frequent (79-30%) HP:0000733
44 abnormality of immune system physiology 56 32 occasional (7.5%) Occasional (29-5%) HP:0010978
45 protruding ear 56 32 occasional (7.5%) Occasional (29-5%) HP:0000411
46 aplasia/hypoplasia of the cerebellum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007360
47 abnormality of the retinal vasculature 56 32 hallmark (90%) Very frequent (99-80%) HP:0008046
48 intellectual disability, progressive 56 32 frequent (33%) Frequent (79-30%) HP:0006887
49 deeply set eye 56 32 hallmark (90%) Very frequent (99-80%) HP:0000490
50 vascular neoplasm 56 32 hallmark (90%) Very frequent (99-80%) HP:0100742

GenomeRNAi Phenotypes related to Norrie Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.17 FZD4 GREM2 MAOA OAT PLVAP TSPAN12

MGI Mouse Phenotypes related to Norrie Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 CER1 FZD1 FZD4 LRP5 MAOA NDP
2 nervous system MP:0003631 9.61 CER1 FZD1 FZD4 GREM1 LRP5 MAOA
3 hearing/vestibular/ear MP:0005377 9.55 FZD1 FZD4 NDP OAT TSPAN12
4 pigmentation MP:0001186 9.02 FZD4 LRP5 NDP OAT FZD1

Drugs & Therapeutics for Norrie Disease

Drugs for Norrie Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antidepressive Agents
2 Antimanic Agents
3 Central Nervous System Depressants
4 Lithium carbonate 554-13-2
5 Psychotropic Drugs
6 Tranquilizing Agents
7 Citrate Nutraceutical
8
Citric Acid Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome Completed NCT01108068 Lithium
2 Growth Hormone for Osteoporosis Pseudoglioma Syndrome Withdrawn NCT01614171

Search NIH Clinical Center for Norrie Disease

Genetic Tests for Norrie Disease

Genetic tests related to Norrie Disease:

id Genetic test Affiliating Genes
1 Atrophia Bulborum Hereditaria 29
2 Norrie Disease 24 NDP

Anatomical Context for Norrie Disease

MalaCards organs/tissues related to Norrie Disease:

39
Eye, Retina, Cerebellum, Brain

Publications for Norrie Disease

Articles related to Norrie Disease:

(show top 50) (show all 152)
id Title Authors Year
1
Repair of Total Tractional Retinal Detachment in Norrie Disease: Report of Technique and Successful Surgical Outcome. ( 28297040 )
2017
2
Cochlear Implants and Psychiatric Assessments: a Norrie Disease Case Report. ( 28953773 )
2017
3
Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation. ( 28394646 )
2017
4
A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease. ( 28922694 )
2017
5
Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease. ( 28575130 )
2017
6
The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease. ( 28742514 )
2017
7
Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR. ( 27217716 )
2016
8
Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene. ( 26459204 )
2015
9
A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease. ( 26547627 )
2015
10
Epilepsy phenotypes in siblings with Norrie disease. ( 25944760 )
2015
11
A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease. ( 24801666 )
2014
12
Planned preterm delivery and treatment of retinal neovascularization in Norrie disease. ( 24529712 )
2014
13
Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study. ( 26011961 )
2014
14
Familial cases of Norrie disease detected by copy number analysis. ( 25023092 )
2014
15
Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal. ( 23201751 )
2013
16
A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family. ( 24392318 )
2013
17
Norrie disease: first mutation report and prenatal diagnosis in an Indian family. ( 22674248 )
2012
18
Norrie disease: extraocular clinical manifestations in 56 patients. ( 22786811 )
2012
19
Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease. ( 22563645 )
2012
20
Norrie disease vs familial exudative vitreoretinopathy. ( 21670366 )
2011
21
Expression of the Norrie disease gene (Ndp) in developing and adult mouse eye, ear, and brain. ( 21055480 )
2011
22
A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy. ( 21960066 )
2011
23
Preterm treatment of Norrie disease. ( 21813101 )
2011
24
Early vitrectomy effective for Norrie disease. ( 20385941 )
2010
25
Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4. ( 20679667 )
2010
26
Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy. ( 20491809 )
2010
27
A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease. ( 21179243 )
2010
28
Coats' Disease, Turner Syndrome, and von Willebrand Disease in a Patient with Wildtype Norrie Disease Pseudoglioma. ( 20411871 )
2010
29
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. ( 20340138 )
2010
30
Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband. ( 20227630 )
2010
31
In utero diagnosis of Norrie disease and early laser preserves visual acuity. ( 20938020 )
2010
32
Lens-sparing vitrectomy effective for reattachment of newly developed falciform retinal detachment in a patient with Norrie disease. ( 19365046 )
2009
33
Gene symbol: NDP. Disease: Norrie disease. ( 18846645 )
2008
34
Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation. ( 18387409 )
2008
35
Twenty years of audiology in a patient with Norrie disease. ( 18817988 )
2008
36
Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy. ( 17431911 )
2007
37
The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease. ( 18097984 )
2007
38
Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy. ( 17325173 )
2007
39
A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. ( 17334993 )
2007
40
Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene. ( 17296899 )
2007
41
A characteristic phenotypic retinal appearance in Norrie disease. ( 17290208 )
2007
42
Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein. ( 15776010 )
2006
43
Gene symbol: NDP. Disease: Norrie disease. ( 17128466 )
2006
44
Voltage-dependent ion channels in the mouse RPE: comparison with Norrie disease mice. ( 16289664 )
2006
45
Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. ( 16970763 )
2006
46
Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction. ( 16035034 )
2005
47
Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice. ( 15716406 )
2005
48
Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR. ( 16163268 )
2005
49
Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature. ( 16123442 )
2005
50
Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. ( 16052165 )
2005

Variations for Norrie Disease

UniProtKB/Swiss-Prot genetic disease variations for Norrie Disease:

71 (show all 46)
id Symbol AA change Variation ID SNP ID
1 NDP p.Leu13Arg VAR_005478 rs104894879
2 NDP p.Cys39Arg VAR_005479
3 NDP p.Tyr44Cys VAR_005482 rs104894870
4 NDP p.Lys58Asn VAR_005483
5 NDP p.Val60Glu VAR_005484 rs104894869
6 NDP p.Leu61Phe VAR_005485 rs104894880
7 NDP p.Leu61Pro VAR_005486
8 NDP p.Ala63Asp VAR_005487
9 NDP p.Cys65Tyr VAR_005488
10 NDP p.Cys69Ser VAR_005489 rs104894872
11 NDP p.Cys65Trp VAR_005490
12 NDP p.Arg74Cys VAR_005491 rs727504031
13 NDP p.Ser75Cys VAR_005492 rs104894868
14 NDP p.Arg90Pro VAR_005494 rs104894867
15 NDP p.Cys96Tyr VAR_005496 rs104894871
16 NDP p.Ser101Phe VAR_005497 rs104894883
17 NDP p.Lys104Gln VAR_005498
18 NDP p.Arg121Gln VAR_005501
19 NDP p.Arg121Trp VAR_005502 rs104894878
20 NDP p.Ile123Asn VAR_005504
21 NDP p.Cys96Trp VAR_009275 rs104894877
22 NDP p.Leu16Pro VAR_016048
23 NDP p.Ser75Pro VAR_016049
24 NDP p.Ala105Thr VAR_016050 rs104894875
25 NDP p.Cys110Gly VAR_016051 rs104894876
26 NDP p.Arg38Cys VAR_063999
27 NDP p.His43Gln VAR_064001
28 NDP p.His43Arg VAR_064002
29 NDP p.Val45Glu VAR_064003 rs137852221
30 NDP p.Val45Met VAR_064004
31 NDP p.Cys55Arg VAR_064006
32 NDP p.Gly67Glu VAR_064008
33 NDP p.Gly67Arg VAR_064009
34 NDP p.Phe89Leu VAR_064010
35 NDP p.Arg90Cys VAR_064011
36 NDP p.Ser92Pro VAR_064012
37 NDP p.Cys95Phe VAR_064013
38 NDP p.Cys95Arg VAR_064014
39 NDP p.Arg97Pro VAR_064015
40 NDP p.Pro98Leu VAR_064016
41 NDP p.Lys104Asn VAR_064018
42 NDP p.Cys110Arg VAR_064020
43 NDP p.Gly112Glu VAR_064021
44 NDP p.Ala118Asp VAR_064023
45 NDP p.Cys126Ser VAR_064025
46 NDP p.Cys128Arg VAR_064026

ClinVar genetic disease variations for Norrie Disease:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1 NDP NM_000266.3(NDP): c.269G> C (p.Arg90Pro) single nucleotide variant Pathogenic rs104894867 GRCh37 Chromosome X, 43809178: 43809178
2 NDP NM_000266.3(NDP): c.224C> G (p.Ser75Cys) single nucleotide variant Pathogenic rs104894868 GRCh37 Chromosome X, 43809223: 43809223
3 NDP NM_000266.3(NDP): c.179T> A (p.Val60Glu) single nucleotide variant Pathogenic rs104894869 GRCh37 Chromosome X, 43809268: 43809268
4 NDP NM_000266.3(NDP): c.131A> G (p.Tyr44Cys) single nucleotide variant Pathogenic rs104894870 GRCh37 Chromosome X, 43817761: 43817761
5 NDP NM_000266.3(NDP): c.287G> A (p.Cys96Tyr) single nucleotide variant Pathogenic rs104894871 GRCh37 Chromosome X, 43809160: 43809160
6 NDP NM_000266.3(NDP): c.206G> C (p.Cys69Ser) single nucleotide variant Pathogenic rs104894872 GRCh37 Chromosome X, 43809241: 43809241
7 NDP NM_000266.3(NDP): c.384C> A (p.Cys128Ter) single nucleotide variant Pathogenic rs104894873 GRCh37 Chromosome X, 43809063: 43809063
8 NDP NM_000266.3(NDP): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28933685 GRCh37 Chromosome X, 43817891: 43817891
9 NDP NM_000266.3(NDP): c.38T> G (p.Leu13Arg) single nucleotide variant Pathogenic rs104894879 GRCh37 Chromosome X, 43817854: 43817854
10 NDP NM_000266.3(NDP): c.181C> T (p.Leu61Phe) single nucleotide variant Pathogenic rs104894880 GRCh37 Chromosome X, 43809266: 43809266
11 NDP NDP, 1-BP DEL deletion Pathogenic
12 NDP NM_000266.3(NDP): c.313G> A (p.Ala105Thr) single nucleotide variant Pathogenic rs104894875 GRCh37 Chromosome X, 43809134: 43809134
13 NDP NM_000266.3(NDP): c.288C> G (p.Cys96Trp) single nucleotide variant Pathogenic rs104894877 GRCh37 Chromosome X, 43809159: 43809159
14 NDP NM_000266.3(NDP): c.134T> A (p.Val45Glu) single nucleotide variant Pathogenic rs137852221 GRCh37 Chromosome X, 43817758: 43817758
15 NDP NM_000266.3(NDP): c.218C> A (p.Ser73Ter) single nucleotide variant Pathogenic rs104894882 GRCh37 Chromosome X, 43809229: 43809229
16 NDP NM_000266.3(NDP): c.302C> T (p.Ser101Phe) single nucleotide variant Pathogenic rs104894883 GRCh37 Chromosome X, 43809145: 43809145
17 NDP NM_000266.3(NDP): c.220C> T (p.Arg74Cys) single nucleotide variant Pathogenic rs727504031 GRCh37 Chromosome X, 43809227: 43809227
18 TSPAN12 NM_012338.3(TSPAN12): c.542G> T (p.Cys181Phe) single nucleotide variant Pathogenic rs878853243 GRCh37 Chromosome 7, 120446673: 120446673
19 NDP NM_000266.3(NDP): c.325C> T (p.Arg109Ter) single nucleotide variant Pathogenic rs886043023 GRCh37 Chromosome X, 43809122: 43809122
20 NDP NM_000266.3(NDP): c.155T> A (p.Leu52Ter) single nucleotide variant Pathogenic rs886043097 GRCh37 Chromosome X, 43817737: 43817737
21 NDP NM_000266.3(NDP): c.268C> T (p.Arg90Cys) single nucleotide variant Likely pathogenic rs1057518793 GRCh38 Chromosome X, 43949933: 43949933

Copy number variations for Norrie Disease from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 262568 X 37500000 47300000 Microdeletion Norrie disease
2 262569 X 37500000 47300000 Microdeletion Norrie disease

Expression for Norrie Disease

Search GEO for disease gene expression data for Norrie Disease.

Pathways for Norrie Disease

Pathways related to Norrie Disease according to GeneCards Suite gene sharing:

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.24 CER1 FZD1 FZD4 LRP5
2 11.96 CUX1 GREM1 LRP5
3 11.96 CER1 FZD1 FZD4 LRP5
4
Show member pathways
11.9 FZD1 FZD4 LRP5
5 11.87 FZD1 FZD4 LRP5
6 11.64 FZD1 FZD4 LRP5
7
Show member pathways
11.19 CER1 GREM1 GREM2
8
Show member pathways
11.08 MAOA MAOB
9
Show member pathways
11 FZD4 LRP5
10
Show member pathways
10.89 MAOA MAOB OAT
11 10.55 MAOA MAOB
12
Show member pathways
10.51 MAOA MAOB
13
Show member pathways
10.44 MAOA MAOB
14 10.25 FZD1 FZD4 LRP5

GO Terms for Norrie Disease

Cellular components related to Norrie Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.35 FZD1 FZD4 GREM1 NDP PLVAP
2 Wnt signalosome GO:1990909 8.62 FZD1 LRP5

Biological processes related to Norrie Disease according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.91 FZD1 FZD4 GREM1 LRP5 NDP
2 Wnt signaling pathway GO:0016055 9.73 FZD1 FZD4 LRP5 NDP
3 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.67 FZD1 FZD4 LRP5 NDP
4 canonical Wnt signaling pathway GO:0060070 9.62 FZD1 FZD4 LRP5 NDP
5 negative regulation of BMP signaling pathway GO:0030514 9.56 CER1 FZD1 GREM1 GREM2
6 beta-catenin destruction complex disassembly GO:1904886 9.52 FZD1 LRP5
7 neurotransmitter catabolic process GO:0042135 9.49 MAOA MAOB
8 cell migration involved in gastrulation GO:0042074 9.48 CER1 LRP5
9 dopamine catabolic process GO:0042420 9.46 MAOA MAOB
10 retinal blood vessel morphogenesis GO:0061304 9.4 FZD4 LRP5
11 retina vasculature morphogenesis in camera-type eye GO:0061299 9.33 FZD4 LRP5 NDP
12 determination of dorsal identity GO:0048263 9.13 CER1 GREM1 GREM2
13 extracellular matrix-cell signaling GO:0035426 8.8 FZD4 LRP5 NDP

Molecular functions related to Norrie Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.67 CER1 GREM1 GREM2 NDP
2 protein homodimerization activity GO:0042803 9.63 CER1 FZD4 GREM2 MAOB NDP PLVAP
3 frizzled binding GO:0005109 9.43 FZD1 NDP
4 Wnt-protein binding GO:0017147 9.43 FZD1 FZD4 LRP5
5 morphogen activity GO:0016015 9.4 CER1 GREM1
6 primary amine oxidase activity GO:0008131 9.32 MAOA MAOB
7 BMP binding GO:0036122 9.13 CER1 GREM1 GREM2
8 Wnt-activated receptor activity GO:0042813 8.92 FZD1 FZD4 LRP5 TSPAN12

Sources for Norrie Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....