MCID: RTN130
MIFTS: 20

Retinitis Pigmentosa 46

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 46

MalaCards integrated aliases for Retinitis Pigmentosa 46:

Name: Retinitis Pigmentosa 46 53 12 71 28 13 69
Rp46 53 12 71
Retinitis Pigmentosa, Autosomal Recessive, Idh3b-Related 53
Retinitis Pigmentosa Autosomal Recessive Idh3b-Related 71

Characteristics:

HPO:

31
retinitis pigmentosa 46:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 612572
Disease Ontology 12 DOID:0110409
ICD10 32 H35.5
MedGen 39 C2675496
MeSH 41 D012174
UMLS 69 C2675496

Summaries for Retinitis Pigmentosa 46

UniProtKB/Swiss-Prot : 71 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, and has symptoms including visual impairment, rod-cone dystrophy and optic disc pallor. An important gene associated with Retinitis Pigmentosa 46 is IDH3B (Isocitrate Dehydrogenase 3 (NAD(+)) Beta). Affiliated tissues include eye.

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 Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 46

Clinical features from OMIM:

612572

Human phenotypes related to Retinitis Pigmentosa 46:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 rod-cone dystrophy 31 HP:0000510
3 optic disc pallor 31 HP:0000543
4 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654
5 constriction of peripheral visual field 31 HP:0001133
6 abnormality of retinal pigmentation 31 HP:0007703
7 attenuation of retinal blood vessels 31 HP:0007843

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 28 IDH3B

Anatomical Context for Retinitis Pigmentosa 46

MalaCards organs/tissues related to Retinitis Pigmentosa 46:

38
Eye

Publications for Retinitis Pigmentosa 46

Variations for Retinitis Pigmentosa 46

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

71
# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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