ND
MCID: NRR002
MIFTS: 60

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 57 12 73 20 43 58 72 36 13 44 15 39
Atrophia Bulborum Hereditaria 57 12 20 43 58 72 29 6
Episkopi Blindness 57 12 20 43 58 72
Pseudoglioma 20 54 70
Anderson-Warburg Syndrome 20 43
Norrie-Warburg Syndrome 20 43
Norrie-Warburg Disease 12 58
Fetal Iritis Syndrome 20 43
Norrie Syndrome 20 43
Nd 57 72
Congenital Progressive Oculo-Acoustico-Cerebral Degeneration 43
Oligophrenia Microphthalmus 43
Whitnall-Norman Syndrome 43
Pseudoglioma Congenita 43
Norrie's Disease 43
Ndp 20

Characteristics:

Orphanet epidemiological data:

58
norrie disease
Inheritance: Not applicable,X-linked recessive; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

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


HPO:

31
norrie disease:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Norrie Disease

MedlinePlus Genetics : 43 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.About 30 percent of individuals with Norrie disease develop progressive hearing loss, and 30 to 50 percent of people affected experience developmental delays in motor skills such as sitting up and walking. Other problems may include mild to moderate intellectual disability, often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction.

MalaCards based summary : Norrie Disease, also known as atrophia bulborum hereditaria, is related to persistent hyperplastic primary vitreous, autosomal recessive and osteoporosis-pseudoglioma syndrome. An important gene associated with Norrie Disease is NDP (Norrin Cystine Knot Growth Factor NDP), and among its related pathways/superpathways are 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 cataract and macrotia

Disease Ontology : 12 A syndrome 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.

GARD : 20 Norrie disease is an inherited eye 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.

OMIM® : 57 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) (Updated 05-Apr-2021)

KEGG : 36 Norrie disease is a severe X-linked recessive form of congenital blindness, which in about one-half of the cases is accompanied by mental retardation and deafness. Mutations in NDP have been reported.

UniProtKB/Swiss-Prot : 72 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 : 73 Norrie disease is a rare disease and genetic disorder that primarily affects the eyes and almost always... 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 148)
# Related Disease Score Top Affiliating Genes
1 persistent hyperplastic primary vitreous, autosomal recessive 32.2 TSPAN12 NDP-AS1 NDP
2 osteoporosis-pseudoglioma syndrome 32.0 NDP LRP5 FZD4 CTNNB1
3 exudative vitreoretinopathy 32.0 ZNF408 TSPAN12 PRSS23 NDP-AS1 NDP LRP5
4 retinal telangiectasia 31.8 TSPAN12 NDP FZD4
5 exudative vitreoretinopathy 3 31.8 TSPAN12 NDP LRP5 FZD4
6 exudative vitreoretinopathy 4 31.8 TSPAN12 NDP LRP5 FZD4
7 retinal detachment 31.2 ZNF408 TSPAN12 NDP-AS1 NDP LRP5 FZD4
8 vitreoretinopathy 31.2 ZNF408 TSPAN12 PRSS23 NDP-AS1 NDP LRP5
9 retinal vascular disease 31.0 ZNF408 TSPAN12 NDP LRP5 FZD4
10 exudative vitreoretinopathy 1 31.0 ZNF408 TSPAN12 PRSS23 NDP LRP5 FZD4
11 exudative vitreoretinopathy 2, x-linked 31.0 NDP-AS1 NDP LRP5 FZD4
12 coats disease 30.7 ZNF408 TSPAN12 PRSS23 NDP LRP5 FZD4
13 leukocoria 30.7 ZNF408 TSPAN12 NDP LRP5 FZD4 EFHC2
14 persistent hyperplastic primary vitreous 30.4 ZNF408 TSPAN12 NDP-AS1 NDP LRP5 FZD4
15 atypical norrie disease due to xp11.3 microdeletion 11.3
16 osteoporosis 11.0
17 pathologic nystagmus 11.0
18 x-linked monogenic disease 10.8
19 x-linked recessive disease 10.8
20 ischemic neuropathy 10.8
21 vitreous disease 10.8
22 yemenite deaf-blind hypopigmentation syndrome 10.7
23 bone mineral density quantitative trait locus 8 10.7
24 bone mineral density quantitative trait locus 15 10.7
25 branchiootic syndrome 1 10.5
26 cerebral degeneration 10.5
27 barbiturate abuse 10.4 MAOB MAOA
28 voyeurism 10.4 MAOA GPHA2
29 atypical depressive disorder 10.4 MAOB MAOA
30 bestiality 10.4 MAOA GREM1
31 autosomal recessive disease 10.3
32 sclerosteosis 1 10.3 LRP5 DAND5
33 pure autonomic failure 10.3 MAOB MAOA
34 sensorineural hearing loss 10.3
35 eye disease 10.3
36 sclerosteosis 10.3 LRP5 GREM2 GREM1 CTNNB1
37 peripheral retinal degeneration 10.3 ZNF408 TSPAN12
38 serotonin syndrome 10.3 MAOB MAOA
39 brittle bone disorder 10.3
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
41 impulse control disorder 10.2 MAOB MAOA
42 blind hypotensive eye 10.2
43 vascular disease 10.2
44 juvenile primary osteoporosis 10.2
45 fundus dystrophy 10.2 ZNF408 TSPAN12 PRSS23 OAT LRP5 FZD4
46 oral squamous cell carcinoma 10.1
47 retinoschisis 1, x-linked, juvenile 10.1
48 alacrima, achalasia, and mental retardation syndrome 10.1
49 microphthalmia 10.1
50 epilepsy 10.1

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:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
3 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
4 abnormal retinal vascular morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008046
5 hypoplasia of the iris 58 31 hallmark (90%) Very frequent (99-80%) HP:0007676
6 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
7 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
8 sclerocornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000647
9 narrow nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000446
10 hypotelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000601
11 anterior chamber synechiae 58 31 hallmark (90%) Very frequent (99-80%) HP:0007833
12 neoplasm of the eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0100012
13 vascular neoplasm 58 31 hallmark (90%) Very frequent (99-80%) HP:0100742
14 abnormal chorioretinal morphology 31 hallmark (90%) HP:0000532
15 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
16 stereotypy 58 31 frequent (33%) Frequent (79-30%) HP:0000733
17 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
18 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
19 intellectual disability, progressive 58 31 frequent (33%) Frequent (79-30%) HP:0006887
20 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
21 erectile dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0100639
22 psychosis 58 31 frequent (33%) Frequent (79-30%) HP:0000709
23 abnormal cochlea morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000375
24 venous insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0005293
25 remnants of the hyaloid vascular system 58 31 frequent (33%) Frequent (79-30%) HP:0007968
26 aplasia/hypoplasia of the lens 58 31 frequent (33%) Frequent (79-30%) HP:0008063
27 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
28 clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002169
29 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
30 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
31 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
32 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
33 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
34 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
35 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
36 abnormality of the helix 58 31 occasional (7.5%) Occasional (29-5%) HP:0011039
37 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
38 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
39 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
40 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
41 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
42 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
43 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
44 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
45 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
46 abnormality of immune system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010978
47 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
48 ectopia lentis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001083
49 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
50 cachexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004326

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
cataract
optic atrophy
retinal detachment
microphthalmia
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Norrie Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 CER1 CTNNB1 DAND5 FZD4 GREM2 LMO2
2 pigmentation MP:0001186 9.02 CTNNB1 FZD4 LRP5 NDP OAT

Drugs & Therapeutics for Norrie Disease

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational 68-04-2
2
Lithium carbonate Approved 554-13-2
3
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
4 Citrate
5 Psychotropic Drugs
6 Antidepressive Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Trial of Lithium Carbonate for Treatment of Osteoporosis Pseudoglioma Syndrome Completed NCT01108068 Lithium
2 Trial of 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 29 NDP

Anatomical Context for Norrie Disease

MalaCards organs/tissues related to Norrie Disease:

40
Eye, Retina, Cerebellum, Bone, Brain, Endothelial, Bone Marrow

Publications for Norrie Disease

Articles related to Norrie Disease:

(show top 50) (show all 297)
# Title Authors PMID Year
1
A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. 61 6 57
17334993 2007
2
Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families. 6 57 61
7814011 1995
3
Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. 61 57 6
1303264 1992
4
Mutations in the candidate gene for Norrie disease. 61 57 6
1307245 1992
5
Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively. 57 6
8990009 1997
6
Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. 6 61
10484772 1999
7
Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy. 61 6
9382152 1997
8
Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency. 6 61
9143918 1997
9
Norrie disease. Diagnosis of a simplex case by DNA analysis. 61 6
8790105 1996
10
Mutations in the Norrie disease gene: a new mutation in a Japanese family. 57 61
7662640 1995
11
Missense mutations in the NDP gene in patients with a less severe course of Norrie disease. 61 57
7795608 1995
12
Mutations in the Norrie disease gene. 57 61
7627181 1995
13
A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease. 61 6
8069314 1994
14
Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. 61 57
8298646 1993
15
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. 61 57
8252044 1993
16
Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease). 61 57
1453434 1992
17
Isolation of a candidate gene for Norrie disease by positional cloning. 57 61
1303235 1992
18
Characterization of a YAC containing part or all of the Norrie disease locus. 61 57
1303171 1992
19
The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3. 61 57
1301161 1992
20
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. 61 57
1308352 1992
21
Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp. 57 61
1733838 1992
22
Physical fine-mapping of a deletion spanning the Norrie gene. 57 61
2606473 1989
23
Norrie disease gene is distinct from the monoamine oxidase genes. 57 61
2773935 1989
24
Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease. 61 57
2596510 1989
25
Duplicate report crossing over in Norrie disease family. 57 61
2764042 1989
26
Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe. 61 57
2568328 1989
27
Monoamine oxidase deficiency in males with an X chromosome deletion. 57 61
2483108 1989
28
Prenatal exclusion of Norrie disease with flanking DNA markers. 61 57
3068991 1988
29
First demonstration of recombination between the gene for Norrie disease and probe L1.28. 61 57
3189417 1988
30
Recombinational event between Norrie disease and DXS7 loci. 57 61
2900708 1988
31
Norrie disease resulting from a gene deletion: clinical features and DNA studies. 61 57
3162283 1988
32
Further linkage data on Norrie disease. 57 61
3565487 1987
33
Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease. 61 57
3502689 1986
34
Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis. 61 57
2998655 1985
35
Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome. 57 61
2998969 1985
36
Manifesting heterozygosity in Norrie's disease? 57
8110678 1993
37
Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant. 6
8240113 1993
38
Characterization of a mutation within the NDP gene in a family with a manifesting female carrier. 6
8268931 1993
39
Norrie's disease in an Asian family. 57
3342220 1988
40
Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency. 57
3964631 1986
41
Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation. 57
3947601 1986
42
Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome. 57
3857130 1985
43
Norrie's disease. 57
6890861 1982
44
A presumptive new variant of Norrie's disease. 57
572429 1979
45
Norrie's disease--an x-linked syndrome of retinal malformation, mental retardation and deafness. 57
4992907 1971
46
Genetic linkage studies in a Negro kindred with Norrie's disease. 57
5307229 1969
47
NORRIE'S DISEASE AND THE XG BLOOD GROUP SYSTEM: LINKAGE DATA. 57
14300021 1965
48
Norie's disease (atrofia bulborum hereditaria). 57
13998843 1963
49
Episkopi blindness; hereditary blindness in a Greek Cypriot family. 57
13662558 1959
50
Congenital sexlinked pseudoglioma and grave mental deficiency. 57
13372212 1956

Variations for Norrie Disease

ClinVar genetic disease variations for Norrie Disease:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDP-AS1 , NDP NM_000266.4(NDP):c.269G>C (p.Arg90Pro) SNV Pathogenic 10679 rs104894867 GRCh37: X:43809178-43809178
GRCh38: X:43949932-43949932
2 NDP-AS1 , NDP NM_000266.4(NDP):c.224C>G (p.Ser75Cys) SNV Pathogenic 10680 rs104894868 GRCh37: X:43809223-43809223
GRCh38: X:43949977-43949977
3 NDP-AS1 , NDP NM_000266.4(NDP):c.179T>A (p.Val60Glu) SNV Pathogenic 10681 rs104894869 GRCh37: X:43809268-43809268
GRCh38: X:43950022-43950022
4 NDP-AS1 , NDP NM_000266.4(NDP):c.131A>G (p.Tyr44Cys) SNV Pathogenic 10682 rs104894870 GRCh37: X:43817761-43817761
GRCh38: X:43958515-43958515
5 NDP-AS1 , NDP NM_000266.4(NDP):c.287G>A (p.Cys96Tyr) SNV Pathogenic 10683 rs104894871 GRCh37: X:43809160-43809160
GRCh38: X:43949914-43949914
6 NDP-AS1 , NDP NM_000266.4(NDP):c.206G>C (p.Cys69Ser) SNV Pathogenic 10685 rs104894872 GRCh37: X:43809241-43809241
GRCh38: X:43949995-43949995
7 NDP-AS1 , NDP NM_000266.4(NDP):c.1A>G (p.Met1Val) SNV Pathogenic 10687 rs28933685 GRCh37: X:43817891-43817891
GRCh38: X:43958645-43958645
8 NDP NDP, 1-BP DEL Deletion Pathogenic 10692 GRCh37:
GRCh38:
9 NDP-AS1 , NDP NM_000266.4(NDP):c.313G>A (p.Ala105Thr) SNV Pathogenic 10693 rs104894875 GRCh37: X:43809134-43809134
GRCh38: X:43949888-43949888
10 NDP-AS1 , NDP NM_000266.4(NDP):c.384C>A (p.Cys128Ter) SNV Pathogenic 10686 rs104894873 GRCh37: X:43809063-43809063
GRCh38: X:43949817-43949817
11 TSPAN12 NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) SNV Pathogenic 236067 rs878853243 GRCh37: 7:120446673-120446673
GRCh38: 7:120806619-120806619
12 FZD4 , PRSS23 NM_012193.4(FZD4):c.313A>G (p.Met105Val) SNV Pathogenic 224624 rs80358284 GRCh37: 11:86663485-86663485
GRCh38: 11:86952443-86952443
13 NDP-AS1 , NDP NM_000266.4(NDP):c.38T>G (p.Leu13Arg) SNV Pathogenic 10689 rs104894879 GRCh37: X:43817854-43817854
GRCh38: X:43958608-43958608
14 NDP-AS1 , NDP NM_000266.4(NDP):c.181C>T (p.Leu61Phe) SNV Pathogenic 10690 rs104894880 GRCh37: X:43809266-43809266
GRCh38: X:43950020-43950020
15 NDP-AS1 , NDP NM_000266.4(NDP):c.288C>G (p.Cys96Trp) SNV Pathogenic 10696 rs104894877 GRCh37: X:43809159-43809159
GRCh38: X:43949913-43949913
16 NDP-AS1 , NDP NM_000266.4(NDP):c.134T>A (p.Val45Glu) SNV Pathogenic 10697 rs137852221 GRCh37: X:43817758-43817758
GRCh38: X:43958512-43958512
17 NDP-AS1 , NDP NM_000266.4(NDP):c.218C>A (p.Ser73Ter) SNV Pathogenic 10698 rs104894882 GRCh37: X:43809229-43809229
GRCh38: X:43949983-43949983
18 NDP-AS1 , NDP NM_000266.4(NDP):c.302C>T (p.Ser101Phe) SNV Pathogenic 10699 rs104894883 GRCh37: X:43809145-43809145
GRCh38: X:43949899-43949899
19 NDP-AS1 , NDP NM_000266.4(NDP):c.220C>T (p.Arg74Cys) SNV Pathogenic 167326 rs727504031 GRCh37: X:43809227-43809227
GRCh38: X:43949981-43949981
20 NDP-AS1 , NDP NM_000266.4(NDP):c.269G>A (p.Arg90His) SNV Likely pathogenic 812352 rs104894867 GRCh37: X:43809178-43809178
GRCh38: X:43949932-43949932
21 NDP-AS1 , NDP NM_000266.4(NDP):c.268C>T (p.Arg90Cys) SNV Likely pathogenic 373948 rs1057518793 GRCh37: X:43809179-43809179
GRCh38: X:43949933-43949933

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

72 (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

Copy number variations for Norrie Disease from CNVD:

7
# CNVD ID Chromosome 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

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

# Name GO ID Score Top Affiliating Genes
1 Wnt signalosome GO:1990909 8.62 LRP5 CTNNB1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 canonical Wnt signaling pathway GO:0060070 9.69 LRP5 FZD4 CTNNB1
2 negative regulation of BMP signaling pathway GO:0030514 9.63 GREM1 DAND5 CER1
3 positive regulation of DNA-binding transcription factor activity GO:0051091 9.62 NDP LRP5 FZD4 CTNNB1
4 positive regulation of mesenchymal cell proliferation GO:0002053 9.59 LRP5 CTNNB1
5 negative regulation of chondrocyte differentiation GO:0032331 9.58 GREM1 CTNNB1
6 anterior/posterior axis specification GO:0009948 9.58 CTNNB1 CER1
7 signal transduction involved in regulation of gene expression GO:0023019 9.57 DAND5 CER1
8 gastrulation with mouth forming second GO:0001702 9.56 LRP5 CTNNB1
9 neurotransmitter catabolic process GO:0042135 9.55 MAOB MAOA
10 Wnt signaling pathway GO:0016055 9.55 TSPAN12 NDP LRP5 FZD4 CTNNB1
11 dopamine catabolic process GO:0042420 9.54 MAOB MAOA
12 cell migration involved in gastrulation GO:0042074 9.52 LRP5 CER1
13 determination of heart left/right asymmetry GO:0061371 9.49 DAND5 CER1
14 retinal blood vessel morphogenesis GO:0061304 9.48 LRP5 FZD4
15 determination of dorsal identity GO:0048263 9.43 GREM1 CER1
16 sequestering of BMP in extracellular matrix GO:0035582 9.4 DAND5 CER1
17 sequestering of BMP from receptor via BMP binding GO:0038098 9.37 GREM2 GREM1
18 negative regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900176 9.26 DAND5 CER1
19 retina vasculature morphogenesis in camera-type eye GO:0061299 9.13 NDP LRP5 FZD4
20 extracellular matrix-cell signaling GO:0035426 8.8 NDP LRP5 FZD4

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.62 NDP GREM2 GREM1 CER1
2 Wnt-activated receptor activity GO:0042813 9.33 TSPAN12 LRP5 FZD4
3 primary amine oxidase activity GO:0008131 9.26 MAOB MAOA
4 BMP binding GO:0036122 9.13 GREM2 GREM1 CER1
5 morphogen activity GO:0016015 8.8 GREM1 DAND5 CER1

Sources for Norrie Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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