ND
MCID: NRR002
MIFTS: 65

Norrie Disease (ND)

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

Aliases & Classifications for Norrie Disease

MalaCards integrated aliases for Norrie Disease:

Name: Norrie Disease 58 12 77 54 26 60 76 38 13 45 15 41
Atrophia Bulborum Hereditaria 58 12 54 26 60 76 30 6
Episkopi Blindness 58 12 54 26 60 76
Pseudoglioma 54 56 74
Anderson-Warburg Syndrome 54 26
Norrie-Warburg Syndrome 54 26
Norrie-Warburg Disease 12 60
Fetal Iritis Syndrome 54 26
Norrie Syndrome 54 26
Nd 58 76
Congenital Progressive Oculo-Acoustico-Cerebral Degeneration 26
Oligophrenia Microphthalmus 26
Whitnall-Norman Syndrome 26
Pseudoglioma Congenita 26
Norrie's Disease 26
Ndp 54

Characteristics:

Orphanet epidemiological data:

60
norrie disease
Inheritance: Not applicable,X-linked recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
x-linked recessive

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


HPO:

33
norrie disease:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Norrie Disease

OMIM : 58 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)

MalaCards based summary : Norrie Disease, also known as atrophia bulborum hereditaria, is related to osteoporosis-pseudoglioma syndrome and leukocoria. An important gene associated with Norrie Disease is NDP (Norrin Cystine Knot Growth Factor NDP), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling and Wnt / Hedgehog / Notch. The drugs Sodium Citrate and Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and cerebellum, and related phenotypes are macrotia and cataract

Disease Ontology : 12 A X-linked recessive disease characterized by 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, and that has material basis in mutation in the NDP gene on chromosome Xp11.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.  

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 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 top 50) (show all 332)
# Related Disease Score Top Affiliating Genes
1 osteoporosis-pseudoglioma syndrome 32.1 FZD4 LRP5 NDP
2 leukocoria 31.8 EFHC2 FZD4 LRP5 NDP
3 retinal telangiectasia 31.8 FZD4 NDP TSPAN12
4 retinal vascular disease 31.7 FZD4 LRP5 NDP TSPAN12
5 exudative vitreoretinopathy 1 30.4 FZD4 LRP5 NDP TSPAN12
6 exudative vitreoretinopathy 30.2 CRYZL1 FZD4 LRP5 NDP TSPAN12
7 retinal detachment 30.0 FZD4 LRP5 NDP TSPAN12
8 persistent hyperplastic primary vitreous 30.0 FZD4 NDP TSPAN12
9 coats disease 29.8 FZD4 LRP5 NDP TSPAN12
10 ndp-related retinopathies 12.5
11 atypical norrie disease due to monosomy xp11.3 12.3
12 persistent hyperplastic primary vitreous, autosomal recessive 11.4
13 ewing sarcoma 11.2
14 retinal disease 11.1
15 x-linked recessive disease 11.0
16 cerebral degeneration 10.6
17 horns in sheep 10.4
18 atypical depressive disorder 10.3 MAOA MAOB
19 exhibitionism 10.3 MAOA MAOB
20 nevus of ota 10.3
21 dependent personality disorder 10.3 MAOA MAOB
22 pathological gambling 10.3 MAOA MAOB
23 eye degenerative disease 10.3 EFHC2 FZD4
24 dystonia 1, torsion, autosomal dominant 10.2 MAOA MAOB
25 brunner syndrome 10.2 MAOA MAOB
26 lentigines 10.2
27 macular holes 10.2
28 epilepsy 10.2
29 paraphilia disorder 10.2 MAOA MAOB
30 brittle bone disorder 10.2
31 pure autonomic failure 10.1 MAOA MAOB
32 neurofibromatosis, type ii 10.1
33 newcastle disease 10.1
34 periodontitis 10.1
35 retinal artery occlusion 10.1
36 exudative vitreoretinopathy 2, x-linked 10.1
37 venous insufficiency 10.1
38 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.1
39 yemenite deaf-blind hypopigmentation syndrome 10.1
40 keloids 10.1
41 branch retinal artery occlusion 10.1
42 alzheimer disease 2 10.0
43 periodontitis, chronic 10.0
44 cataract 10.0
45 panner disease 10.0
46 antisocial personality disorder 10.0 MAOA MAOB
47 pyogenic granuloma 10.0
48 spondyloenchondrodysplasia 10.0
49 sclerosteosis 10.0 GREM1 GREM2 LRP5
50 breast cancer 10.0

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



Diseases related to Norrie Disease

Symptoms & Phenotypes for Norrie Disease

Human phenotypes related to Norrie Disease:

60 33 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000400
2 cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0000518
3 blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000618
4 abnormality of the retinal vasculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008046
5 microphthalmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000568
6 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
7 vascular neoplasm 60 33 hallmark (90%) Very frequent (99-80%) HP:0100742
8 hypoplasia of the iris 60 33 hallmark (90%) Very frequent (99-80%) HP:0007676
9 narrow nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000446
10 hypotelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000601
11 sclerocornea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000647
12 anterior chamber synechiae 60 33 hallmark (90%) Very frequent (99-80%) HP:0007833
13 neoplasm of the eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0100012
14 abnormal chorioretinal morphology 33 hallmark (90%) HP:0000532
15 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
16 stereotypy 60 33 frequent (33%) Frequent (79-30%) HP:0000733
17 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
18 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
19 intellectual disability, progressive 60 33 frequent (33%) Frequent (79-30%) HP:0006887
20 psychosis 60 33 frequent (33%) Frequent (79-30%) HP:0000709
21 retinal detachment 60 33 frequent (33%) Frequent (79-30%) HP:0000541
22 erectile abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0100639
23 venous insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0005293
24 remnants of the hyaloid vascular system 60 33 frequent (33%) Frequent (79-30%) HP:0007968
25 aplasia/hypoplasia of the lens 60 33 frequent (33%) Frequent (79-30%) HP:0008063
26 abnormal cochlea morphology 33 frequent (33%) HP:0000375
27 malar flattening 60 33 occasional (7.5%) Occasional (29-5%) HP:0000272
28 diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000819
29 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
30 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
31 muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001324
32 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
33 clonus 60 33 occasional (7.5%) Occasional (29-5%) HP:0002169
34 eeg abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0002353
35 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
36 developmental regression 60 33 occasional (7.5%) Occasional (29-5%) HP:0002376
37 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
38 self-injurious behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0100716
39 hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0000738
40 abnormality of the helix 60 33 occasional (7.5%) Occasional (29-5%) HP:0011039
41 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
42 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
43 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
44 hypertonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001276
45 delayed puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000823
46 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
47 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
48 attention deficit hyperactivity disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007018
49 abnormality of immune system physiology 60 33 occasional (7.5%) Occasional (29-5%) HP:0010978
50 protruding ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000411

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Norrie Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 CER1 FZD4 GREM2 LRP5 MAOA MAOB
2 cardiovascular system MP:0005385 9.97 CER1 DAND5 FZD4 LRP5 MAOA NDP
3 nervous system MP:0003631 9.81 CER1 FZD4 GREM1 LRP5 MAOA MAOB
4 hearing/vestibular/ear MP:0005377 9.65 FZD4 NDP OAT TSPAN12 WNT7A
5 pigmentation MP:0001186 9.26 FZD4 LRP5 NDP OAT
6 vision/eye MP:0005391 9.17 FZD4 GREM2 LRP5 NDP OAT TSPAN12

Drugs & Therapeutics for Norrie Disease

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium Citrate Approved, Investigational Not Applicable 68-04-2
2
Lithium carbonate Approved Not Applicable 554-13-2
3
Citric Acid Approved, Nutraceutical, Vet_approved Not Applicable 77-92-9 311
4 Antidepressive Agents Not Applicable
5 Antimanic Agents Not Applicable
6 Central Nervous System Depressants Not Applicable
7 Psychotropic Drugs Not Applicable
8 Citrate Not Applicable
9 Tranquilizing Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome Completed NCT01108068 Not Applicable Lithium
2 Growth Hormone for Osteoporosis Pseudoglioma Syndrome Withdrawn NCT01614171 Not Applicable

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 30 NDP

Anatomical Context for Norrie Disease

MalaCards organs/tissues related to Norrie Disease:

42
Eye, Retina, Cerebellum, Brain

Publications for Norrie Disease

Articles related to Norrie Disease:

(show top 50) (show all 161)
# Title Authors Year
1
Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease. ( 30640974 )
2019
2
Refractory epilepsy in Norrie disease. ( 29725776 )
2018
3
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. ( 29633608 )
2018
4
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. ( 29933759 )
2018
5
Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease. ( 30474316 )
2018
6
Prenatal diagnosis of Norrie disease based on ultrasound scan findings. ( 30125416 )
2018
7
The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease. ( 28742514 )
2017
8
Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease. ( 28575130 )
2017
9
Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation. ( 28394646 )
2017
10
A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease. ( 28922694 )
2017
11
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
12
Repair of Total Tractional Retinal Detachment in Norrie Disease: Report of Technique and Successful Surgical Outcome. ( 28297040 )
2017
13
Cochlear Implants and Psychiatric Assessments: a Norrie Disease Case Report. ( 28953773 )
2017
14
Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease. ( 29133643 )
2017
15
Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR. ( 27217716 )
2016
16
Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation. ( 30088388 )
2016
17
Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene. ( 26459204 )
2015
18
A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease. ( 26547627 )
2015
19
Epilepsy phenotypes in siblings with Norrie disease. ( 25944760 )
2015
20
Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study. ( 26011961 )
2014
21
Planned preterm delivery and treatment of retinal neovascularization in Norrie disease. ( 24529712 )
2014
22
A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease. ( 24801666 )
2014
23
Familial cases of Norrie disease detected by copy number analysis. ( 25023092 )
2014
24
Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal. ( 23201751 )
2013
25
A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family. ( 24392318 )
2013
26
Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease. ( 22563645 )
2012
27
Norrie disease: extraocular clinical manifestations in 56 patients. ( 22786811 )
2012
28
Norrie disease: first mutation report and prenatal diagnosis in an Indian family. ( 22674248 )
2012
29
A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy. ( 21960066 )
2011
30
Norrie disease vs familial exudative vitreoretinopathy. ( 21670366 )
2011
31
Expression of the Norrie disease gene (Ndp) in developing and adult mouse eye, ear, and brain. ( 21055480 )
2011
32
Preterm treatment of Norrie disease. ( 21813101 )
2011
33
Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy. ( 20491809 )
2010
34
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
35
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
36
In utero diagnosis of Norrie disease and early laser preserves visual acuity. ( 20938020 )
2010
37
A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease. ( 21179243 )
2010
38
Coats' Disease, Turner Syndrome, and von Willebrand Disease in a Patient with Wildtype Norrie Disease Pseudoglioma. ( 20411871 )
2010
39
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
40
Early vitrectomy effective for Norrie disease. ( 20385941 )
2010
41
Lens-sparing vitrectomy effective for reattachment of newly developed falciform retinal detachment in a patient with Norrie disease. ( 19365046 )
2009
42
Twenty years of audiology in a patient with Norrie disease. ( 18817988 )
2008
43
Gene symbol: NDP. Disease: Norrie disease. ( 18846645 )
2008
44
Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation. ( 18387409 )
2008
45
Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy. ( 17431911 )
2007
46
A characteristic phenotypic retinal appearance in Norrie disease. ( 17290208 )
2007
47
Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy. ( 17325173 )
2007
48
Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene. ( 17296899 )
2007
49
A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. ( 17334993 )
2007
50
The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease. ( 18097984 )
2007

Variations for Norrie Disease

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

76 (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 rs136949055
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 rs758550101
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 rs146085945
33 NDP p.Gly67Arg VAR_064009
34 NDP p.Phe89Leu VAR_064010 rs105752033
35 NDP p.Arg90Cys VAR_064011 rs105751879
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 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 NDP NM_000266.3(NDP): c.220C> T (p.Arg74Cys) single nucleotide variant Pathogenic rs727504031 GRCh37 Chromosome X, 43809227: 43809227
2 NDP NM_000266.3(NDP): c.220C> T (p.Arg74Cys) single nucleotide variant Pathogenic rs727504031 GRCh38 Chromosome X, 43949981: 43949981
3 NDP NM_000266.3(NDP): c.269G> C (p.Arg90Pro) single nucleotide variant Pathogenic rs104894867 GRCh37 Chromosome X, 43809178: 43809178
4 NDP NM_000266.3(NDP): c.269G> C (p.Arg90Pro) single nucleotide variant Pathogenic rs104894867 GRCh38 Chromosome X, 43949932: 43949932
5 NDP NM_000266.3(NDP): c.224C> G (p.Ser75Cys) single nucleotide variant Pathogenic rs104894868 GRCh37 Chromosome X, 43809223: 43809223
6 NDP NM_000266.3(NDP): c.224C> G (p.Ser75Cys) single nucleotide variant Pathogenic rs104894868 GRCh38 Chromosome X, 43949977: 43949977
7 NDP NM_000266.3(NDP): c.179T> A (p.Val60Glu) single nucleotide variant Pathogenic rs104894869 GRCh37 Chromosome X, 43809268: 43809268
8 NDP NM_000266.3(NDP): c.179T> A (p.Val60Glu) single nucleotide variant Pathogenic rs104894869 GRCh38 Chromosome X, 43950022: 43950022
9 NDP NM_000266.3(NDP): c.131A> G (p.Tyr44Cys) single nucleotide variant Pathogenic rs104894870 GRCh37 Chromosome X, 43817761: 43817761
10 NDP NM_000266.3(NDP): c.131A> G (p.Tyr44Cys) single nucleotide variant Pathogenic rs104894870 GRCh38 Chromosome X, 43958515: 43958515
11 NDP NM_000266.3(NDP): c.287G> A (p.Cys96Tyr) single nucleotide variant Pathogenic rs104894871 GRCh37 Chromosome X, 43809160: 43809160
12 NDP NM_000266.3(NDP): c.287G> A (p.Cys96Tyr) single nucleotide variant Pathogenic rs104894871 GRCh38 Chromosome X, 43949914: 43949914
13 NDP NM_000266.3(NDP): c.206G> C (p.Cys69Ser) single nucleotide variant Pathogenic rs104894872 GRCh37 Chromosome X, 43809241: 43809241
14 NDP NM_000266.3(NDP): c.206G> C (p.Cys69Ser) single nucleotide variant Pathogenic rs104894872 GRCh38 Chromosome X, 43949995: 43949995
15 NDP NM_000266.3(NDP): c.384C> A (p.Cys128Ter) single nucleotide variant Pathogenic rs104894873 GRCh37 Chromosome X, 43809063: 43809063
16 NDP NM_000266.3(NDP): c.384C> A (p.Cys128Ter) single nucleotide variant Pathogenic rs104894873 GRCh38 Chromosome X, 43949817: 43949817
17 NDP NM_000266.3(NDP): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28933685 GRCh37 Chromosome X, 43817891: 43817891
18 NDP NM_000266.3(NDP): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28933685 GRCh38 Chromosome X, 43958645: 43958645
19 NDP NM_000266.3(NDP): c.38T> G (p.Leu13Arg) single nucleotide variant Pathogenic rs104894879 GRCh37 Chromosome X, 43817854: 43817854
20 NDP NM_000266.3(NDP): c.38T> G (p.Leu13Arg) single nucleotide variant Pathogenic rs104894879 GRCh38 Chromosome X, 43958608: 43958608
21 NDP NM_000266.3(NDP): c.181C> T (p.Leu61Phe) single nucleotide variant Pathogenic rs104894880 GRCh37 Chromosome X, 43809266: 43809266
22 NDP NM_000266.3(NDP): c.181C> T (p.Leu61Phe) single nucleotide variant Pathogenic rs104894880 GRCh38 Chromosome X, 43950020: 43950020
23 NDP NDP, 1-BP DEL deletion Pathogenic
24 NDP NM_000266.3(NDP): c.313G> A (p.Ala105Thr) single nucleotide variant Pathogenic rs104894875 GRCh37 Chromosome X, 43809134: 43809134
25 NDP NM_000266.3(NDP): c.313G> A (p.Ala105Thr) single nucleotide variant Pathogenic rs104894875 GRCh38 Chromosome X, 43949888: 43949888
26 NDP NM_000266.3(NDP): c.288C> G (p.Cys96Trp) single nucleotide variant Pathogenic rs104894877 GRCh37 Chromosome X, 43809159: 43809159
27 NDP NM_000266.3(NDP): c.288C> G (p.Cys96Trp) single nucleotide variant Pathogenic rs104894877 GRCh38 Chromosome X, 43949913: 43949913
28 NDP NM_000266.3(NDP): c.134T> A (p.Val45Glu) single nucleotide variant Pathogenic rs137852221 GRCh37 Chromosome X, 43817758: 43817758
29 NDP NM_000266.3(NDP): c.134T> A (p.Val45Glu) single nucleotide variant Pathogenic rs137852221 GRCh38 Chromosome X, 43958512: 43958512
30 NDP NM_000266.3(NDP): c.218C> A (p.Ser73Ter) single nucleotide variant Pathogenic rs104894882 GRCh37 Chromosome X, 43809229: 43809229
31 NDP NM_000266.3(NDP): c.218C> A (p.Ser73Ter) single nucleotide variant Pathogenic rs104894882 GRCh38 Chromosome X, 43949983: 43949983
32 NDP NM_000266.3(NDP): c.302C> T (p.Ser101Phe) single nucleotide variant Pathogenic rs104894883 GRCh37 Chromosome X, 43809145: 43809145
33 NDP NM_000266.3(NDP): c.302C> T (p.Ser101Phe) single nucleotide variant Pathogenic rs104894883 GRCh38 Chromosome X, 43949899: 43949899
34 TSPAN12 NM_012338.3(TSPAN12): c.542G> T (p.Cys181Phe) single nucleotide variant Pathogenic rs878853243 GRCh37 Chromosome 7, 120446673: 120446673
35 TSPAN12 NM_012338.3(TSPAN12): c.542G> T (p.Cys181Phe) single nucleotide variant Pathogenic rs878853243 GRCh38 Chromosome 7, 120806619: 120806619
36 NDP NM_000266.3(NDP): c.268C> T (p.Arg90Cys) single nucleotide variant Likely pathogenic rs1057518793 GRCh38 Chromosome X, 43949933: 43949933
37 NDP NM_000266.3(NDP): c.268C> T (p.Arg90Cys) single nucleotide variant Likely pathogenic rs1057518793 GRCh37 Chromosome X, 43809179: 43809179

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

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.14 FZD4 LRP5 WNT7A
2 11.96 CUX1 GREM1 LRP5
3
Show member pathways
11.96 CER1 FZD4 LRP5 WNT7A
4 11.96 CER1 FZD4 LRP5 WNT7A
5 11.89 FZD4 LRP5 WNT7A
6
Show member pathways
11.69 CER1 FZD4 LRP5 WNT7A
7
Show member pathways
11.19 CER1 GREM1 GREM2
8
Show member pathways
11.07 MAOA MAOB
9
Show member pathways
11 FZD4 LRP5
10
Show member pathways
10.89 MAOA MAOB OAT
11
Show member pathways
10.61 MAOA MAOB
12 10.51 MAOA MAOB
13
Show member pathways
10.44 MAOA MAOB
14 10.25 FZD4 LRP5 WNT7A

GO Terms for Norrie Disease

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.02 FZD4 GREM1 NDP PLVAP WNT7A

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.92 FZD4 GREM1 LRP5 NDP WNT7A
2 regulation of signaling receptor activity GO:0010469 9.86 CER1 DAND5 NDP WNT7A
3 Wnt signaling pathway GO:0016055 9.65 FZD4 LRP5 NDP TSPAN12 WNT7A
4 non-canonical Wnt signaling pathway GO:0035567 9.55 FZD4 WNT7A
5 signal transduction involved in regulation of gene expression GO:0023019 9.54 CER1 DAND5
6 neurotransmitter catabolic process GO:0042135 9.51 MAOA MAOB
7 determination of heart left/right asymmetry GO:0061371 9.49 CER1 DAND5
8 dopamine catabolic process GO:0042420 9.48 MAOA MAOB
9 retina vasculature morphogenesis in camera-type eye GO:0061299 9.46 FZD4 NDP
10 canonical Wnt signaling pathway GO:0060070 9.46 FZD4 LRP5 NDP WNT7A
11 retinal blood vessel morphogenesis GO:0061304 9.43 FZD4 LRP5
12 sequestering of BMP in extracellular matrix GO:0035582 9.4 CER1 DAND5
13 extracellular matrix-cell signaling GO:0035426 9.37 FZD4 NDP
14 negative regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900176 9.32 CER1 DAND5
15 negative regulation of BMP signaling pathway GO:0030514 9.26 CER1 DAND5 GREM1 GREM2
16 determination of dorsal identity GO:0048263 8.8 CER1 GREM1 GREM2

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 9.87 CER1 FZD4 GREM1 GREM2 MAOB NDP
2 cytokine activity GO:0005125 9.55 CER1 GREM1 GREM2 NDP WNT7A
3 Wnt-protein binding GO:0017147 9.43 FZD4 LRP5
4 Wnt-activated receptor activity GO:0042813 9.43 FZD4 LRP5 TSPAN12
5 receptor ligand activity GO:0048018 9.4 GREM1 WNT7A
6 primary amine oxidase activity GO:0008131 9.37 MAOA MAOB
7 BMP binding GO:0036122 9.13 CER1 GREM1 GREM2
8 morphogen activity GO:0016015 8.8 CER1 DAND5 GREM1

Sources for Norrie Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....