MCID: RTN130
MIFTS: 20

Retinitis Pigmentosa 46

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 46

MalaCards integrated aliases for Retinitis Pigmentosa 46:

Name: Retinitis Pigmentosa 46 57 12 75 29 13 6 73
Rp46 57 12 75
Retinitis Pigmentosa, Autosomal Recessive, Idh3b-Related 57
Retinitis Pigmentosa Autosomal Recessive Idh3b-Related 75
Retinitis Pigmentosa, Type 46 40

Characteristics:

HPO:

32
retinitis pigmentosa 46:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612572
Disease Ontology 12 DOID:0110409
ICD10 33 H35.5
MedGen 42 C2675496
MeSH 44 D012174
UMLS 73 C2675496

Summaries for Retinitis Pigmentosa 46

UniProtKB/Swiss-Prot : 75 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 3 (NAD(+)) Beta). Affiliated tissues include eye, and related phenotypes are visual impairment 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 Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 46

Clinical features from OMIM:

612572

Human phenotypes related to Retinitis Pigmentosa 46:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 rod-cone dystrophy 32 HP:0000510
3 optic disc pallor 32 HP:0000543
4 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654
5 constriction of peripheral visual field 32 HP:0001133
6 abnormality of retinal pigmentation 32 HP:0007703
7 attenuation of retinal blood vessels 32 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 29 IDH3B

Anatomical Context for Retinitis Pigmentosa 46

MalaCards organs/tissues related to Retinitis Pigmentosa 46:

41
Eye

Publications for Retinitis Pigmentosa 46

Variations for Retinitis Pigmentosa 46

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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