RP46
MCID: RTN130
MIFTS: 37

Retinitis Pigmentosa 46 (RP46)

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

Aliases & Classifications for Retinitis Pigmentosa 46

MalaCards integrated aliases for Retinitis Pigmentosa 46:

Name: Retinitis Pigmentosa 46 56 12 73 29 13 6 15 71
Rp46 56 12 73
Retinitis Pigmentosa, Autosomal Recessive, Idh3b-Related 56
Retinitis Pigmentosa Autosomal Recessive Idh3b-Related 73
Retinitis Pigmentosa, Type 46 39

Characteristics:

HPO:

31
retinitis pigmentosa 46:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110409
OMIM 56 612572
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C2675496
UMLS 71 C2675496

Summaries for Retinitis Pigmentosa 46

UniProtKB/Swiss-Prot : 73 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 spinocerebellar ataxia 38 and scleredema adultorum. 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 Hematopoietic Stem Cells and Lineage-specific Markers and IL12-mediated signaling events. Affiliated tissues include eye and retina, 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.

More information from OMIM: 612572 PS268000

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
Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 142)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 38 10.4 TCOF1 CACNA1A
2 scleredema adultorum 10.1 FBN1 CD8A
3 female stress incontinence 10.0 PDE5A BACE1
4 retinitis pigmentosa 49 10.0 TCOF1 LGALS4 HUWE1
5 blepharoconjunctivitis 10.0 IL4 CD4
6 mikulicz disease 10.0 IL4 CD4
7 trichinosis 10.0 IL4 CD4
8 amelogenesis imperfecta, type ia 9.9 LGALS4 HUWE1
9 cork-handlers' disease 9.9 CD8A CD4
10 ventilation pneumonitis 9.8 CD8A CD4
11 geotrichosis 9.8 HUWE1 CD4
12 diffuse infiltrative lymphocytosis syndrome 9.8 CD8A CD4
13 diabetes mellitus, insulin-dependent, 23 9.8 CD8A CD4
14 autoimmune lymphoproliferative syndrome, type iia 9.8 CD8A CD4
15 early yaws 9.8 CD8A CD4
16 bird fancier's lung 9.8 CD8A CD4
17 parapsoriasis 9.8 CD8A CD4
18 norwegian scabies 9.8 CD8A CD4
19 skin sarcoidosis 9.8 CD8A CD4
20 variola major 9.8 CD8A CD4
21 follicular mucinosis 9.8 CD8A CD4
22 viral exanthem 9.8 CD8A CD4
23 tertiary syphilis 9.8 CD8A CD4
24 spongiotic dermatitis 9.8 CD8A CD4
25 tracheal disease 9.8 FBN1 BACE1
26 acute retinal necrosis syndrome 9.8 CD8A CD4
27 invasive malignant thymoma 9.8 CD8A CD4
28 autoimmune vasculitis 9.8 IL4 CD4
29 cerebritis 9.8 CD8A CD4
30 granulomatous hepatitis 9.8 CD8A CD4
31 acute interstitial pneumonia 9.8 CD8A CD4
32 west nile encephalitis 9.8 CD8A CD4
33 oral hairy leukoplakia 9.8 CD8A CD4
34 superficial basal cell carcinoma 9.8 CD8A CD4
35 secondary syphilis 9.8 CD8A CD4
36 glanders 9.8 CD8A CD4
37 parotid disease 9.8 CD8A CD4
38 west nile fever 9.8 CD8A CD4
39 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.8 LGALS4 HUWE1 FBN1 CACNA1A
40 neurosarcoidosis 9.8 CD8A CD4
41 esophageal candidiasis 9.8 CD8A CD4
42 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 9.8 CD8A CD4
43 cardiomyopathy, familial hypertrophic, 9 9.8 CD8A CD4
44 oral tuberculosis 9.8 CD8A CD4
45 pneumonic tularemia 9.8 CD8A CD4
46 farmer's lung 9.8 CD8A CD4
47 pneumonic plague 9.7 CD8A CD4
48 adenoid hypertrophy 9.7 CD8A CD4
49 duodenitis 9.7 CD8A CD4
50 egg allergy 9.7 IL4 CD4

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

Clinical features from OMIM:

612572

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased caspase 3/7 activity GR00318-A 8.8 BACE1 CD4 PDE5A

MGI Mouse Phenotypes related to Retinitis Pigmentosa 46:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 BACE1 CACNA1A CD4 CD8A CTSB FBN1
2 endocrine/exocrine gland MP:0005379 9.86 CACNA1A CD4 CD8A CTSB FBN1 HUWE1
3 nervous system MP:0003631 9.85 BACE1 CACNA1A CD4 CD8A CTSB FBN1
4 no phenotypic analysis MP:0003012 9.43 BACE1 CACNA1A CD4 FBN1 IL4 NKRF
5 normal MP:0002873 9.32 BACE1 CACNA1A CD4 CD8A CTSB CTSH

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
Eye, Retina

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. 56 6
18806796 2008
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
4
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
5
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 GRCh37 Pos GRCh38 Pos
1 IDH3B NM_006899.5(IDH3B):c.589del (p.Ile197fs)deletion Pathogenic 5505 20:2641179-2641179 20:2660533-2660533
2 IDH3B NM_006899.5(IDH3B):c.395T>C (p.Leu132Pro)SNV Pathogenic 5506 rs137853020 20:2641558-2641558 20:2660912-2660912

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

73
# 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:

# Super pathways Score Top Affiliating Genes
1 11.5 IL4 CD8A CD4
2
Show member pathways
11.38 IL4 CD8A CD4
3 11.13 IL4 CD8A CD4
4 10.7 IL4 CD8A CD4
5 10.68 CTSB BACE1

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 collagen-containing extracellular matrix GO:0062023 9.46 LGALS4 FBN1 CTSH CTSB
2 ficolin-1-rich granule lumen GO:1904813 9.13 HUWE1 CTSH CTSB
3 endoplasmic reticulum lumen GO:0005788 8.92 PROC FBN1 CD4 BACE1

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

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.26 PROC FBN1 CTSH BACE1
2 cellular response to thyroid hormone stimulus GO:0097067 9.16 CTSH CTSB
3 T cell activation GO:0042110 8.8 IL4 CD8A CD4

Molecular functions related to Retinitis Pigmentosa 46 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 8.8 CTSH CTSB BACE1

Sources for Retinitis Pigmentosa 46

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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