RP46
MCID: RTN130
MIFTS: 19

Retinitis Pigmentosa 46 (RP46)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 46

MalaCards integrated aliases for Retinitis Pigmentosa 46:

Name: Retinitis Pigmentosa 46 58 12 76 30 13 6 15 74
Rp46 58 12 76
Retinitis Pigmentosa, Autosomal Recessive, Idh3b-Related 58
Retinitis Pigmentosa Autosomal Recessive Idh3b-Related 76
Retinitis Pigmentosa, Type 46 41

Characteristics:

HPO:

33
retinitis pigmentosa 46:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110409
OMIM 58 612572
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C2675496
UMLS 74 C2675496

Summaries for Retinitis Pigmentosa 46

UniProtKB/Swiss-Prot : 76 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, is also known as rp46. An important gene associated with Retinitis Pigmentosa 46 is IDH3B (Isocitrate Dehydrogenase (NAD(+)) 3 Beta). Affiliated tissues include eye, 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.

Description from OMIM: 612572

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
Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 46

Human phenotypes related to Retinitis Pigmentosa 46:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of retinal pigmentation 33 HP:0007703
2 rod-cone dystrophy 33 HP:0000510
3 optic disc pallor 33 HP:0000543
4 constriction of peripheral visual field 33 HP:0001133
5 attenuation of retinal blood vessels 33 HP:0007843
6 decreased light- and dark-adapted electroretinogram amplitude 33 HP:0000654

Clinical features from OMIM:

612572

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 30 IDH3B

Anatomical Context for Retinitis Pigmentosa 46

MalaCards organs/tissues related to Retinitis Pigmentosa 46:

42
Eye

Publications for Retinitis Pigmentosa 46

Articles related to Retinitis Pigmentosa 46:

# Title Authors Year
1
Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. ( 18806796 )
2008

Variations for Retinitis Pigmentosa 46

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

76
# Symbol AA change Variation ID SNP ID
1 IDH3B p.Leu132Pro VAR_054851 rs137853020

ClinVar genetic disease variations for Retinitis Pigmentosa 46:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IDH3B IDH3B, 1-BP DEL, 589A deletion Pathogenic
2 IDH3B NM_006899.4(IDH3B): c.395T> C (p.Leu132Pro) single nucleotide variant Pathogenic rs137853020 GRCh37 Chromosome 20, 2641558: 2641558
3 IDH3B NM_006899.4(IDH3B): c.395T> C (p.Leu132Pro) single nucleotide variant Pathogenic rs137853020 GRCh38 Chromosome 20, 2660912: 2660912

Expression for Retinitis Pigmentosa 46

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

Pathways for Retinitis Pigmentosa 46

GO Terms for Retinitis Pigmentosa 46

Sources for Retinitis Pigmentosa 46

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
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