Norrie disease

General Information (adopted from Orphanet):

Synonyms, Signs: ND
Norrie-Warburg disease
episkopi blindness
atrophia bulborum hereditaria
Number of Symptoms 86
OrphanetNr: 649
OMIM Id: 310600
ICD-10: H35.5
UMLs: C0266526
MeSH: C537849
MedDRA: 10069760
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 300 cases [Orphanet]
Inheritance: X-linked recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital vitreoretinal dysplasia
 -Rare eye disease
 -Rare genetic disease
Syndromic cataract
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100639) Erectile abnormalities Frequent [Orphanet] 15 / 7739
2
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
3
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
4
 (HPO:0000601) Hypotelorism Very frequent [Orphanet] 83 / 7739
5
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
6
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
7
 (HPO:0000568) Microphthalmia 183 / 7739
8
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
9
 (HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
10
 (HPO:0008053) Aplasia/Hypoplasia of the iris Very frequent [Orphanet] 38 / 7739
11
 (HPO:0100012) Neoplasm of the eye Very frequent [Orphanet] 2 / 7739
12
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
13
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
14
 (HPO:0004327) Abnormality of the vitreous humor Frequent [Orphanet] 14 / 7739
15
 (HPO:0000517) Abnormality of the lens Frequent [Orphanet] 12 / 7739
16
 (HPO:0000647) Sclerocornea Very frequent [Orphanet] 25 / 7739
17
 (HPO:0007957) Corneal opacity 84 / 7739
18
 (HPO:0007676) Hypoplasia of the iris 22 / 7739
19
 (HPO:0000648) Optic atrophy 238 / 7739
20
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
21
 (HPO:0008052) Retinal fold 4 / 7739
22
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
23
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
24
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
25
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
26
 (HPO:0000615) Abnormality of the pupil Occasional [Orphanet] 39 / 7739
27
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
28
 (HPO:0000618) Blindness 124 / 7739
29
 (HPO:0008046) Abnormality of the retinal vasculature Very frequent [Orphanet] 41 / 7739
30
 (HPO:0000594) Shallow anterior chamber 8 / 7739
31
 (HPO:0001083) Ectopia lentis Occasional [Orphanet] 45 / 7739
32
 (HPO:0000541) Retinal detachment Frequent [Orphanet] 87 / 7739
33
 (HPO:0007973) Retinal dysplasia 27 / 7739
34
 (HPO:0011484) Posterior synechiae of the anterior chamber Very frequent [Orphanet] 5 / 7739
35
 (HPO:0011390) Morphological abnormality of the inner ear Frequent [Orphanet] 21 / 7739
36
 (HPO:0011039) Abnormality of the helix Occasional [Orphanet] 33 / 7739
37
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
38
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
39
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
40
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
41
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
42
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
43
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
44
 (HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
45
 (HPO:0000709) Psychosis 61 / 7739
46
 (HPO:0001347) Hyperreflexia Occasional [Orphanet] 363 / 7739
47
 (HPO:0000726) Dementia 131 / 7739
48
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
49
 (HPO:0000718) Aggressive behavior 109 / 7739
50
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
51
 (HPO:0000738) Hallucinations Occasional [Orphanet] 60 / 7739
52
 (HPO:0002360) Sleep disturbance Occasional [Orphanet] 113 / 7739
53
 (HPO:0000733) Stereotypy Frequent [Orphanet] 58 / 7739
54
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
55
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
56
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
57
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
58
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
59
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
60
 (HPO:0004305) Involuntary movements Occasional [Orphanet] 50 / 7739
61
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
62
 (HPO:0000819) Diabetes mellitus Occasional [Orphanet] 131 / 7739
63
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
64
 (HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
65
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
66
 (HPO:0005293) Venous insufficiency Frequent [Orphanet] 27 / 7739
67
 (HPO:0100742) Vascular neoplasm Very frequent [Orphanet] 3 / 7739
68
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
69
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
70
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
71
 (OMIM) Phthisical globe 1 / 7739
72
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
73
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
74
 (HPO:0010662) Abnormality of the diencephalon Occasional [Orphanet] 6 / 7739
75
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
76
 (OMIM) Hyperplastic vitreous 1 / 7739
77
 (OMIM) Retinal folds 1 / 7739
78
 (OMIM) Vitreal opacities 1 / 7739
79
 (OMIM) Iris synechiae 1 / 7739
80
 (HPO:0002363) Abnormality of brainstem morphology Occasional [Orphanet] 14 / 7739
81
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
82
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
83
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
84
 (OMIM) Intraocular retrolental masses, bilateral ('pseudoglioma') 1 / 7739
85
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
86
 (OMIM) Histopathology shows rosettes of immature retinal cells in vascular connective tissue 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Warburg (1961) reported 7 cases of a hereditary degenerative disease in 7 generations of a Danish family. The proband was a 12-month-old boy who was normal except for lens opacities found at initial examination at 3 months of ...
Genotype-Phenotype Correlations OMIM Walker et al. (1997) described 2 mutations in exon 3 of the NDP gene, a nonsense (S73X; 300658.0020) and a missense (S101F; 300658.0021) mutation, associated with severe and less severe ocular phenotype, respectively. Affected individuals in both families ...
Molecular genetics OMIM Berger et al. (1992) cloned the NDP gene and identified small deletions within the gene in several patients with Norrie disease. Berger et al. (1992) identified 11 different mutations in the NDP gene (see, e.g., 300658.0001; 300658.0002) in ...