MCID: NRR002
MIFTS: 61

Norrie Disease

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

Aliases & Classifications for Norrie Disease

MalaCards integrated aliases for Norrie Disease:

Name: Norrie Disease 53 12 72 49 24 55 71 13 41 14
Atrophia Bulborum Hereditaria 53 12 49 24 55 71 28
Episkopi Blindness 53 12 49 24 55 71
Pseudoglioma 49 51 69
Anderson-Warburg Syndrome 49 24
Norrie-Warburg Syndrome 49 24
Norrie-Warburg Disease 12 55
Fetal Iritis Syndrome 49 24
Norrie Syndrome 49 24
Nd 53 71
Congenital Progressive Oculo-Acoustico-Cerebral Degeneration 24
Oligophrenia Microphthalmus 24
Whitnall-Norman Syndrome 24
Pseudoglioma Congenita 24
Norrie's Disease 24
Ndp 49

Characteristics:

Orphanet epidemiological data:

55
norrie disease
Inheritance: Not applicable,X-linked recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
x-linked recessive

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


HPO:

31
norrie disease:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Norrie Disease

NIH Rare Diseases : 49 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 exudative vitreoretinopathy 1, and has symptoms including cachexia, seizures and muscle weakness. An important gene associated with Norrie Disease is NDP (NDP, Norrin Cystine Knot Growth Factor), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Histidine metabolism. The drugs Citric Acid and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and cerebellum, and related phenotypes are cardiovascular system and pigmentation

OMIM : 53 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)

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 : 24 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.

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)
# Related Disease Score Top Affiliating Genes
1 osteoporosis-pseudoglioma syndrome 34.2 FZD4 LRP5 NDP
2 exudative vitreoretinopathy 1 30.1 FZD4 LRP5 NDP TSPAN12
3 persistent hyperplastic primary vitreous 30.0 FZD4 NDP
4 coats disease 29.7 FZD4 NDP TSPAN12
5 exudative vitreoretinopathy 29.7 CRYZL1 FZD4 LRP5 NDP TSPAN12
6 retinal detachment 29.6 FZD4 LRP5 NDP TSPAN12
7 ndp-related retinopathies 12.1
8 atypical norrie disease due to monosomy xp11.3 12.1
9 persistent hyperplastic primary vitreous, autosomal recessive 11.3
10 osteoporosis 10.6
11 bone mineral density quantitative trait locus 8 10.6
12 bone mineral density quantitative trait locus 15 10.6
13 cerebral degeneration 10.5
14 cerebritis 10.5
15 atypical depressive disorder 10.4 MAOA MAOB
16 exhibitionism 10.4 MAOA MAOB
17 dependent personality disorder 10.3 MAOA MAOB
18 pathological gambling 10.3 MAOA MAOB
19 dystonia 1, torsion, autosomal dominant 10.3 MAOA MAOB
20 retinitis 10.3
21 antisocial personality disorder 10.2 MAOA MAOB
22 nevus of ota 10.2
23 paraphilia disorder 10.1 MAOA MAOB
24 retinal telangiectasia 10.0 FZD4 NDP TSPAN12
25 pure autonomic failure 10.0 MAOA MAOB
26 sclerosteosis 10.0 GREM1 GREM2 LRP5
27 eye degenerative disease 9.9 EFHC2 FZD4
28 retinoschisis 1, x-linked, juvenile 9.9
29 venous insufficiency 9.9
30 epilepsy 9.9
31 retinal vascular disease 9.9 FZD4 LRP5 NDP TSPAN12
32 leukocoria 9.8 EFHC2 FZD4 NDP
33 migraine with or without aura 1 9.8
34 moebius syndrome 9.8
35 prader-willi syndrome 9.8
36 exudative vitreoretinopathy 2, x-linked 9.8
37 incontinentia pigmenti 9.8
38 aging 9.8
39 branchiootic syndrome 1 9.8
40 pulmonary hypertension 9.8
41 von willebrand's disease 9.8
42 turner syndrome 9.8
43 sleep disorder 9.8

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:

53
Head And Neck Eyes:
cataract
optic atrophy
microphthalmia
retinal detachment
retinal dysplasia
more
Neurologic Central Nervous System:
dementia (later onset)
seizures (rare)
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:

55 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0004326
2 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
3 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
4 clonus 55 31 occasional (7.5%) Occasional (29-5%) HP:0002169
5 malar flattening 55 31 occasional (7.5%) Occasional (29-5%) HP:0000272
6 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
7 diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000819
8 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
9 failure to thrive 55 31 occasional (7.5%) Occasional (29-5%) HP:0001508
10 eeg abnormality 55 31 occasional (7.5%) Occasional (29-5%) HP:0002353
11 sleep disturbance 55 31 occasional (7.5%) Occasional (29-5%) HP:0002360
12 developmental regression 55 31 occasional (7.5%) Occasional (29-5%) HP:0002376
13 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
14 self-injurious behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0100716
15 macrotia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000400
16 cataract 55 31 hallmark (90%) Very frequent (99-80%) HP:0000518
17 hallucinations 55 31 occasional (7.5%) Occasional (29-5%) HP:0000738
18 abnormality of the helix 55 31 occasional (7.5%) Occasional (29-5%) HP:0011039
19 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
20 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
21 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
22 blindness 55 31 hallmark (90%) Very frequent (99-80%) HP:0000618
23 hypertonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001276
24 stereotypy 55 31 frequent (33%) Frequent (79-30%) HP:0000733
25 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
26 irritability 55 31 frequent (33%) Frequent (79-30%) HP:0000737
27 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
28 autism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000717
29 attention deficit hyperactivity disorder 55 31 occasional (7.5%) Occasional (29-5%) HP:0007018
30 anxiety 55 31 frequent (33%) Frequent (79-30%) HP:0000739
31 abnormality of immune system physiology 55 31 occasional (7.5%) Occasional (29-5%) HP:0010978
32 protruding ear 55 31 occasional (7.5%) Occasional (29-5%) HP:0000411
33 migraine 55 31 occasional (7.5%) Occasional (29-5%) HP:0002076
34 cerebral cortical atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002120
35 aplasia/hypoplasia of the cerebellum 55 31 occasional (7.5%) Occasional (29-5%) HP:0007360
36 abnormality of the retinal vasculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0008046
37 intellectual disability, progressive 55 31 frequent (33%) Frequent (79-30%) HP:0006887
38 microphthalmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000568
39 deeply set eye 55 31 hallmark (90%) Very frequent (99-80%) HP:0000490
40 psychosis 55 31 frequent (33%) Frequent (79-30%) HP:0000709
41 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
42 retinal detachment 55 31 frequent (33%) Frequent (79-30%) HP:0000541
43 vascular neoplasm 55 31 hallmark (90%) Very frequent (99-80%) HP:0100742
44 ectopia lentis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001083
45 hypoplasia of the iris 55 31 hallmark (90%) Very frequent (99-80%) HP:0007676
46 abnormality of the diencephalon 55 31 occasional (7.5%) Occasional (29-5%) HP:0010662
47 erectile abnormalities 55 31 frequent (33%) Frequent (79-30%) HP:0100639
48 thin vermilion border 55 31 occasional (7.5%) Occasional (29-5%) HP:0000233
49 narrow nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000446
50 hypotelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000601

MGI Mouse Phenotypes related to Norrie Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 CER1 DAND5 FZD4 LRP5 MAOA NDP
2 pigmentation MP:0001186 8.92 FZD4 LRP5 NDP OAT

Drugs & Therapeutics for Norrie Disease

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

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

Interventional clinical trials:


# 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

Cochrane evidence based reviews: norrie disease

Genetic Tests for Norrie Disease

Genetic tests related to Norrie Disease:

# Genetic test Affiliating Genes
1 Atrophia Bulborum Hereditaria 28 NDP

Anatomical Context for Norrie Disease

MalaCards organs/tissues related to Norrie Disease:

38
Eye, Retina, Cerebellum, Brain

Publications for Norrie Disease

Articles related to Norrie Disease:

(show top 50) (show all 154)
# Title Authors Year
1
Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease. ( 28575130 )
2017
2
Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease. ( 29133643 )
2017
3
Cochlear Implants and Psychiatric Assessments: a Norrie Disease Case Report. ( 28953773 )
2017
4
A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease. ( 28922694 )
2017
5
Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation. ( 28394646 )
2017
6
Repair of Total Tractional Retinal Detachment in Norrie Disease: Report of Technique and Successful Surgical Outcome. ( 28297040 )
2017
7
A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits. ( 29321361 )
2017
8
The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease. ( 28742514 )
2017
9
Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR. ( 27217716 )
2016
10
A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease. ( 26547627 )
2015
11
Epilepsy phenotypes in siblings with Norrie disease. ( 25944760 )
2015
12
Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene. ( 26459204 )
2015
13
Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study. ( 26011961 )
2014
14
Planned preterm delivery and treatment of retinal neovascularization in Norrie disease. ( 24529712 )
2014
15
Familial cases of Norrie disease detected by copy number analysis. ( 25023092 )
2014
16
A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease. ( 24801666 )
2014
17
Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal. ( 23201751 )
2013
18
A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family. ( 24392318 )
2013
19
Norrie disease: first mutation report and prenatal diagnosis in an Indian family. ( 22674248 )
2012
20
Norrie disease: extraocular clinical manifestations in 56 patients. ( 22786811 )
2012
21
Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease. ( 22563645 )
2012
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
Expression of the Norrie disease gene (Ndp) in developing and adult mouse eye, ear, and brain. ( 21055480 )
2011
25
Norrie disease vs familial exudative vitreoretinopathy. ( 21670366 )
2011
26
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
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
Early vitrectomy effective for Norrie disease. ( 20385941 )
2010
30
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
31
Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy. ( 20491809 )
2010
32
In utero diagnosis of Norrie disease and early laser preserves visual acuity. ( 20938020 )
2010
33
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
34
Lens-sparing vitrectomy effective for reattachment of newly developed falciform retinal detachment in a patient with Norrie disease. ( 19365046 )
2009
35
Gene symbol: NDP. Disease: Norrie disease. ( 18846645 )
2008
36
Twenty years of audiology in a patient with Norrie disease. ( 18817988 )
2008
37
Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation. ( 18387409 )
2008
38
The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease. ( 18097984 )
2007
39
Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene. ( 17296899 )
2007
40
A characteristic phenotypic retinal appearance in Norrie disease. ( 17290208 )
2007
41
Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy. ( 17431911 )
2007
42
A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. ( 17334993 )
2007
43
Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy. ( 17325173 )
2007
44
Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein. ( 15776010 )
2006
45
Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. ( 16970763 )
2006
46
Gene symbol: NDP. Disease: Norrie disease. ( 17128466 )
2006
47
Voltage-dependent ion channels in the mouse RPE: comparison with Norrie disease mice. ( 16289664 )
2006
48
Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. ( 16052165 )
2005
49
Audiologic features of Norrie disease. ( 16134349 )
2005
50
Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature. ( 16123442 )
2005

Variations for Norrie Disease

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

71 (show all 46)
# 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 rs1057518793Norrie
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)
# 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
# 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

GO Terms for Norrie Disease

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA binding transcription factor activity GO:0051091 9.7 FZD4 LRP5 NDP
2 canonical Wnt signaling pathway GO:0060070 9.69 FZD4 LRP5 NDP
3 negative regulation of BMP signaling pathway GO:0030514 9.56 CER1 DAND5 GREM1 GREM2
4 signal transduction involved in regulation of gene expression GO:0023019 9.54 CER1 DAND5
5 neurotransmitter catabolic process GO:0042135 9.49 MAOA MAOB
6 cell migration involved in gastrulation GO:0042074 9.48 CER1 LRP5
7 determination of heart left/right asymmetry GO:0061371 9.46 CER1 DAND5
8 dopamine catabolic process GO:0042420 9.43 MAOA MAOB
9 retinal blood vessel morphogenesis GO:0061304 9.4 FZD4 LRP5
10 sequestering of BMP in extracellular matrix GO:0035582 9.37 CER1 DAND5
11 retina vasculature morphogenesis in camera-type eye GO:0061299 9.33 FZD4 LRP5 NDP
12 negative regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900176 9.32 CER1 DAND5
13 determination of dorsal identity GO:0048263 9.13 CER1 GREM1 GREM2
14 extracellular matrix-cell signaling GO:0035426 8.8 FZD4 LRP5 NDP

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.7 CER1 FZD4 GREM1 GREM2 MAOB NDP
2 cytokine activity GO:0005125 9.67 CER1 GREM1 GREM2 NDP
3 Wnt-activated receptor activity GO:0042813 9.43 FZD4 LRP5 TSPAN12
4 Wnt-protein binding GO:0017147 9.4 FZD4 LRP5
5 primary amine oxidase activity GO:0008131 9.32 MAOA MAOB
6 BMP binding GO:0036122 9.13 CER1 GREM1 GREM2
7 morphogen activity GO:0016015 8.8 CER1 DAND5 GREM1

Sources for Norrie Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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