RP56
MCID: RTN116
MIFTS: 31

Retinitis Pigmentosa 56 (RP56)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 56

MalaCards integrated aliases for Retinitis Pigmentosa 56:

Name: Retinitis Pigmentosa 56 58 12 76 30 6 15 74
Rp56 58 12 76
Maculopathy, Impg2-Related 76 13
Retinitis Pigmentosa, Type 56 41
Maclp-Impg2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
retinitis pigmentosa 56:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110371
OMIM 58 613581
ICD10 34 H35.5
UMLS 74 C3150819

Summaries for Retinitis Pigmentosa 56

UniProtKB/Swiss-Prot : 76 Maculopathy, IMPG2-related: A mild maculopathy characterized by full-field electroretinogram responses within normal limits, normal color vision, elevation of the photoreceptor layer in the foveal region and mild nuclear sclerosis. Retinitis pigmentosa 56: 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 56, also known as rp56, is related to retinitis pigmentosa 44 and retinal disease. An important gene associated with Retinitis Pigmentosa 56 is IMPG2 (Interphotoreceptor Matrix Proteoglycan 2), and among its related pathways/superpathways is Drug metabolism - cytochrome P450. Affiliated tissues include bone and eye, and related phenotypes are reduced visual acuity and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the IMPG2 gene on chromosome 3q12.3.

Description from OMIM: 613581

Related Diseases for Retinitis Pigmentosa 56

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

Diseases related to Retinitis Pigmentosa 56 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 44 9.7 CYP2B6 RDH12
2 retinal disease 9.6 IMPG2 RDH12
3 fundus dystrophy 9.6 IMPG2 RDH12
4 ewing sarcoma 9.4 IMPG2 RDH12

Symptoms & Phenotypes for Retinitis Pigmentosa 56

Human phenotypes related to Retinitis Pigmentosa 56:

33
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 33 HP:0007663
2 nyctalopia 33 HP:0000662
3 rod-cone dystrophy 33 HP:0000510
4 pigmentary retinopathy 33 HP:0000580
5 posterior subcapsular cataract 33 HP:0007787

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
posterior subcapsular cataract
decreased visual acuity
night blindness
visual field loss
attenuation of retinal arterioles
more

Clinical features from OMIM:

613581

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 56 according to GeneCards Suite gene sharing:

27 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.47 IMPG2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.47 CYP2B6
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.47 CYP2B6 IMPG2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.47 CYP2B6
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.47 IMPG2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.47 CYP2B6
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.47 CYP2B6
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.47 IMPG2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.47 IMPG2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.47 IMPG2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.47 CYP2B6
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.47 IMPG2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.47 IMPG2
14 Decreased HPV16-GFP infection GR00350-A 8.96 IMPG2 RDH12

Drugs & Therapeutics for Retinitis Pigmentosa 56

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 56

Genetic Tests for Retinitis Pigmentosa 56

Genetic tests related to Retinitis Pigmentosa 56:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 56 30 IMPG2

Anatomical Context for Retinitis Pigmentosa 56

MalaCards organs/tissues related to Retinitis Pigmentosa 56:

42
Bone, Eye

Publications for Retinitis Pigmentosa 56

Articles related to Retinitis Pigmentosa 56:

# Title Authors Year
1
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. ( 20673862 )
2010

Variations for Retinitis Pigmentosa 56

ClinVar genetic disease variations for Retinitis Pigmentosa 56:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 IMPG2 NM_016247.3(IMPG2): c.635C> G (p.Ser212Ter) single nucleotide variant Pathogenic rs267606874 GRCh37 Chromosome 3, 100994538: 100994538
2 IMPG2 NM_016247.3(IMPG2): c.635C> G (p.Ser212Ter) single nucleotide variant Pathogenic rs267606874 GRCh38 Chromosome 3, 101275694: 101275694
3 IMPG2 NM_016247.3(IMPG2): c.888-1554_908+274del deletion Pathogenic GRCh38 Chromosome 3, 101267237: 101269085
4 IMPG2 NM_016247.3(IMPG2): c.888-1554_908+274del deletion Pathogenic GRCh37 Chromosome 3, 100986081: 100987929
5 IMPG2 NM_016247.3(IMPG2): c.2716C> T (p.Arg906Ter) single nucleotide variant Pathogenic rs267606876 GRCh37 Chromosome 3, 100962459: 100962459
6 IMPG2 NM_016247.3(IMPG2): c.2716C> T (p.Arg906Ter) single nucleotide variant Pathogenic rs267606876 GRCh38 Chromosome 3, 101243615: 101243615
7 IMPG2 NM_016247.3(IMPG2): c.2890C> T (p.Arg964Ter) single nucleotide variant Pathogenic rs267606875 GRCh37 Chromosome 3, 100961664: 100961664
8 IMPG2 NM_016247.3(IMPG2): c.2890C> T (p.Arg964Ter) single nucleotide variant Pathogenic rs267606875 GRCh38 Chromosome 3, 101242820: 101242820
9 IMPG2 NM_016247.3(IMPG2): c.1818dupG (p.Gln607Alafs) duplication Pathogenic rs1553681434 GRCh37 Chromosome 3, 100963357: 100963357
10 IMPG2 NM_016247.3(IMPG2): c.1818dupG (p.Gln607Alafs) duplication Pathogenic rs1553681434 GRCh38 Chromosome 3, 101244513: 101244513
11 IMPG2 NM_016247.3(IMPG2): c.1826delT (p.Val609Glufs) deletion Pathogenic rs1553681433 GRCh38 Chromosome 3, 101244505: 101244505
12 IMPG2 NM_016247.3(IMPG2): c.1826delT (p.Val609Glufs) deletion Pathogenic rs1553681433 GRCh37 Chromosome 3, 100963349: 100963349
13 IMPG2 NM_016247.3(IMPG2): c.85+2T> A single nucleotide variant Pathogenic rs1553687118 GRCh38 Chromosome 3, 101320286: 101320286
14 IMPG2 NM_016247.3(IMPG2): c.85+2T> A single nucleotide variant Pathogenic rs1553687118 GRCh37 Chromosome 3, 101039130: 101039130

Expression for Retinitis Pigmentosa 56

Search GEO for disease gene expression data for Retinitis Pigmentosa 56.

Pathways for Retinitis Pigmentosa 56

GO Terms for Retinitis Pigmentosa 56

Biological processes related to Retinitis Pigmentosa 56 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.96 CYP2B6 RDH12
2 visual perception GO:0007601 8.62 IMPG2 RDH12

Molecular functions related to Retinitis Pigmentosa 56 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.62 CYP2B6 RDH12

Sources for Retinitis Pigmentosa 56

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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