RP46
MCID: RTN130
MIFTS: 40

Retinitis Pigmentosa 46 (RP46)

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

Aliases & Classifications for Retinitis Pigmentosa 46

MalaCards integrated aliases for Retinitis Pigmentosa 46:

Name: Retinitis Pigmentosa 46 57 12 72 29 13 6 15 70
Rp46 57 12 72
Retinitis Pigmentosa, Autosomal Recessive, Idh3b-Related 57
Retinitis Pigmentosa Autosomal Recessive Idh3b-Related 72
Retinitis Pigmentosa, Type 46 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
some patients also exhibit early-onset subcapsular cataracts


HPO:

31
retinitis pigmentosa 46:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110409
OMIM® 57 612572
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C2675496
UMLS 70 C2675496

Summaries for Retinitis Pigmentosa 46

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 46: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 46, also known as rp46, is related to pulmonary valve insufficiency and b-cell growth factor. An important gene associated with Retinitis Pigmentosa 46 is IDH3B (Isocitrate Dehydrogenase (NAD(+)) 3 Non-Catalytic Subunit Beta), and among its related pathways/superpathways are Allograft rejection and T cell receptor signaling pathway. Affiliated tissues include retina, eye and bone, and related phenotypes are abnormality of retinal pigmentation and rod-cone dystrophy

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the IDH3B on chromosome 20p13.

OMIM® : 57 Retinitis pigmentosa-46 (RP46) is characterized by night blindness, loss of peripheral vision, and reduced visual acuity. Funduscopic findings are typical of RP, including pale optic discs, attenuated retinal vessels, and intraretinal pigment deposits. Electroretinography shows substantial loss of rod and cone photoreceptor function (Hartong et al., 2008). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. (612572) (Updated 05-Apr-2021)

Related Diseases for Retinitis Pigmentosa 46

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 46 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 276)
# Related Disease Score Top Affiliating Genes
1 pulmonary valve insufficiency 10.2 PDE5A FBN1
2 b-cell growth factor 10.2 IL4 IFNG
3 tricuspid valve disease 10.2 PDE5A FBN1
4 atopic keratoconjunctivitis 10.2 IL4 IFNG
5 tricuspid valve insufficiency 10.2 PDE5A FBN1
6 toxic oil syndrome 10.2 IL4 IFNG
7 orofacial granulomatosis 10.2 IL4 IFNG
8 pemphigoid 10.2 IL4 IFNG
9 eales disease 10.2 IL4 IFNG
10 vernal conjunctivitis 10.2 IL4 IFNG
11 scleredema adultorum 10.1 FBN1 CD8A
12 penicillin allergy 10.1 IL4 IFNG
13 acute graft versus host disease 10.1 IL4 IFNG
14 urinary schistosomiasis 10.1 IL4 IFNG
15 scleritis 10.1 IL4 IFNG
16 latex allergy 10.1 IL4 IFNG
17 clonorchiasis 10.1 IFNG CTSB
18 elephantiasis 10.0 IL4 CD4
19 chronic inflammatory demyelinating polyneuritis 10.0 IFNG CD8A
20 blepharoconjunctivitis 10.0 IL4 CD4
21 loiasis 10.0 IL4 CD4
22 mikulicz disease 10.0 IL4 CD4
23 far eastern spotted fever 10.0 IFNG CD8A
24 meconium aspiration syndrome 10.0 PDE5A IFNG
25 adiaspiromycosis 10.0 FBN1 CD4
26 trichinosis 10.0 IL4 CD4
27 orbital disease 10.0 FBN1 CD4
28 timothy grass allergy 10.0 IL4 CD4
29 mite infestation 10.0 IL4 CD4
30 intrinsic asthma 10.0 IL4 CD4
31 eczema herpeticum 10.0 IL4 IFNG
32 autoimmune vasculitis 10.0 IL4 CD4
33 tick infestation 10.0 IL4 CD4
34 legume allergy 10.0 IL4 CD4
35 fruit allergy 10.0 IL4 CD4
36 chronic conjunctivitis 10.0 IL4 CD4
37 panophthalmitis 9.9 IFNG CD4
38 ocular tuberculosis 9.9 IFNG CD4
39 pericardial tuberculosis 9.9 IFNG CD4
40 penicilliosis 9.9 IFNG CD4
41 suppurative lymphadenitis 9.9 IFNG CD4
42 opportunistic bacterial infectious disease 9.9 IFNG CD4
43 nocardiosis 9.9 IFNG CD4
44 gastrointestinal tuberculosis 9.9 IFNG CD4
45 intestinal tuberculosis 9.9 IFNG CD4
46 lymph node tuberculosis 9.9 IFNG CD4
47 arteriosclerosis 9.9 IL4 IFNG FBN1
48 lung abscess 9.9 IFNG CD4
49 abdominal tuberculosis 9.9 IFNG CD4
50 microscopic colitis 9.9 IL4 IFNG

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 46:



Diseases related to Retinitis Pigmentosa 46

Symptoms & Phenotypes for Retinitis Pigmentosa 46

Human phenotypes related to Retinitis Pigmentosa 46:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of retinal pigmentation 31 HP:0007703
2 rod-cone dystrophy 31 HP:0000510
3 optic disc pallor 31 HP:0000543
4 constriction of peripheral visual field 31 HP:0001133
5 attenuation of retinal blood vessels 31 HP:0007843
6 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
reduced visual acuity
pale optic discs
impaired dark adaptation
concentrically constricted visual fields
attenuated arterioles
more

Clinical features from OMIM®:

612572 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 46 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with imatinib mesylate GR00181-A 8.8 CTSB IL4 NKRF

MGI Mouse Phenotypes related to Retinitis Pigmentosa 46:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.23 CD4 CD8A CTSB CTSH IFNG IL4

Drugs & Therapeutics for Retinitis Pigmentosa 46

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 46

Genetic Tests for Retinitis Pigmentosa 46

Genetic tests related to Retinitis Pigmentosa 46:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 46 29 IDH3B

Anatomical Context for Retinitis Pigmentosa 46

MalaCards organs/tissues related to Retinitis Pigmentosa 46:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 46

Articles related to Retinitis Pigmentosa 46:

# Title Authors PMID Year
1
Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. 6 57
18806796 2008
2
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing. 57
31736247 2020
3
Effect of recovery period of mixture pasture on cattle behaviour, pasture biomass production and pasture nutritional value. 61
32290898 2020

Variations for Retinitis Pigmentosa 46

ClinVar genetic disease variations for Retinitis Pigmentosa 46:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IDH3B NM_006899.5(IDH3B):c.857G>A (p.Gly286Glu) SNV Pathogenic 977509 GRCh37: 20:2640734-2640734
GRCh38: 20:2660088-2660088
2 IDH3B NM_006899.5(IDH3B):c.395T>C (p.Leu132Pro) SNV Pathogenic 5506 rs137853020 GRCh37: 20:2641558-2641558
GRCh38: 20:2660912-2660912
3 IDH3B NM_006899.5(IDH3B):c.589del (p.Ile197fs) Deletion Pathogenic 5505 rs1600169350 GRCh37: 20:2641179-2641179
GRCh38: 20:2660533-2660533

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 46:

72
# Symbol AA change Variation ID SNP ID
1 IDH3B p.Leu132Pro VAR_054851 rs137853020

Expression for Retinitis Pigmentosa 46

Search GEO for disease gene expression data for Retinitis Pigmentosa 46.

Pathways for Retinitis Pigmentosa 46

Pathways related to Retinitis Pigmentosa 46 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 IL4 IFNG CTSB CD8A CD4
2
Show member pathways
12.32 IL4 IFNG CD8A CD4
3
Show member pathways
11.89 IL4 IFNG CTSB
4 11.63 IL4 CD8A CD4
5
Show member pathways
11.57 IL4 IFNG CD4
6 11.52 IL4 IFNG CD8A CD4
7 11.45 IFNG CD8A CD4
8
Show member pathways
11.31 IL4 IFNG CD8A CD4
9 11.16 IL4 IFNG CD4
10 10.97 IFNG CD4
11 10.93 IL4 IFNG
12 10.9 IL4 IFNG CD4
13 10.83 IL4 IFNG CD8A CD4

GO Terms for Retinitis Pigmentosa 46

Cellular components related to Retinitis Pigmentosa 46 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.43 LGALS4 IL4 IFNG FBN1 CTSH CTSB
2 collagen-containing extracellular matrix GO:0062023 8.92 LGALS4 FBN1 CTSH CTSB

Biological processes related to Retinitis Pigmentosa 46 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.73 IL4 IFNG CD8A CD4
2 adaptive immune response GO:0002250 9.67 IFNG CTSH CD8A CD4
3 microglial cell activation GO:0001774 9.48 IL4 IFNG
4 negative regulation of osteoclast differentiation GO:0045671 9.46 IL4 FBN1
5 macrophage differentiation GO:0030225 9.4 IFNG CD4
6 cellular response to thyroid hormone stimulus GO:0097067 9.32 CTSH CTSB
7 positive regulation of MHC class II biosynthetic process GO:0045348 9.26 IL4 IFNG
8 positive regulation of cellular respiration GO:1901857 9.16 IL4 IFNG
9 neuroinflammatory response GO:0150076 8.96 IL4 IFNG
10 T cell activation GO:0042110 8.8 IL4 CD8A CD4

Sources for Retinitis Pigmentosa 46

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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