MCID: RTN116
MIFTS: 31

Retinitis Pigmentosa 56

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 56

MalaCards integrated aliases for Retinitis Pigmentosa 56:

Name: Retinitis Pigmentosa 56 57 12 75 29 6 15 73
Rp56 57 12 75
Maculopathy, Impg2-Related 75 13
Retinitis Pigmentosa, Type 56 40
Maclp-Impg2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
retinitis pigmentosa 56:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613581
Disease Ontology 12 DOID:0110371
ICD10 33 H35.5
UMLS 73 C3150819

Summaries for Retinitis Pigmentosa 56

UniProtKB/Swiss-Prot : 75 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 fundus dystrophy. 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 visual impairment and rod-cone dystrophy

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 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 9.3 CYP2B6 RDH12
2 fundus dystrophy 9.1 IMPG2 RDH12
3 ewing sarcoma 8.9 IMPG2 RDH12

Symptoms & Phenotypes for Retinitis Pigmentosa 56

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
night blindness
visual field loss
attenuation of retinal arterioles
pigmentary retinopathy with typical bone spicule appearance
decreased visual acuity
more

Clinical features from OMIM:

613581

Human phenotypes related to Retinitis Pigmentosa 56:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 rod-cone dystrophy 32 HP:0000510
3 nyctalopia 32 HP:0000662
4 reduced visual acuity 32 HP:0007663
5 posterior subcapsular cataract 32 HP:0007787

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

26 (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 29 IMPG2

Anatomical Context for Retinitis Pigmentosa 56

MalaCards organs/tissues related to Retinitis Pigmentosa 56:

41
Bone, Eye

Publications for Retinitis Pigmentosa 56

Variations for Retinitis Pigmentosa 56

ClinVar genetic disease variations for Retinitis Pigmentosa 56:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 IMPG2 NM_016247.3(IMPG2): c.2890C> T (p.Arg964Ter) single nucleotide variant Pathogenic rs267606875 GRCh37 Chromosome 3, 100961664: 100961664
2 IMPG2 NM_016247.3(IMPG2): c.2890C> T (p.Arg964Ter) single nucleotide variant Pathogenic rs267606875 GRCh38 Chromosome 3, 101242820: 101242820
3 IMPG2 NM_016247.3(IMPG2): c.2716C> T (p.Arg906Ter) single nucleotide variant Pathogenic rs267606876 GRCh37 Chromosome 3, 100962459: 100962459
4 IMPG2 NM_016247.3(IMPG2): c.2716C> T (p.Arg906Ter) single nucleotide variant Pathogenic rs267606876 GRCh38 Chromosome 3, 101243615: 101243615
5 IMPG2 NM_016247.3(IMPG2): c.635C> G (p.Ser212Ter) single nucleotide variant Pathogenic rs267606874 GRCh37 Chromosome 3, 100994538: 100994538
6 IMPG2 NM_016247.3(IMPG2): c.635C> G (p.Ser212Ter) single nucleotide variant Pathogenic rs267606874 GRCh38 Chromosome 3, 101275694: 101275694
7 IMPG2 NM_016247.3(IMPG2): c.888-1554_908+274del deletion Pathogenic GRCh38 Chromosome 3, 101267237: 101269085
8 IMPG2 NM_016247.3(IMPG2): c.888-1554_908+274del deletion Pathogenic GRCh37 Chromosome 3, 100986081: 100987929
9 IMPG2 NM_016247.3(IMPG2): c.1818dupG (p.Gln607Alafs) duplication Pathogenic rs886044806 GRCh38 Chromosome 3, 101244513: 101244513
10 IMPG2 NM_016247.3(IMPG2): c.1818dupG (p.Gln607Alafs) duplication Pathogenic rs886044806 GRCh37 Chromosome 3, 100963357: 100963357
11 IMPG2 NM_016247.3(IMPG2): c.829-1G> T single nucleotide variant Pathogenic rs776740276 GRCh37 Chromosome 3, 100988418: 100988418
12 IMPG2 NM_016247.3(IMPG2): c.829-1G> T single nucleotide variant Pathogenic rs776740276 GRCh38 Chromosome 3, 101269574: 101269574
13 IMPG2 NM_016247.3(IMPG2): c.1826delT (p.Val609Glufs) deletion Pathogenic GRCh38 Chromosome 3, 101244505: 101244505
14 IMPG2 NM_016247.3(IMPG2): c.1826delT (p.Val609Glufs) deletion Pathogenic GRCh37 Chromosome 3, 100963349: 100963349
15 IMPG2 NM_016247.3(IMPG2): c.85+2T> A single nucleotide variant Pathogenic GRCh38 Chromosome 3, 101320286: 101320286
16 IMPG2 NM_016247.3(IMPG2): c.85+2T> A single nucleotide variant Pathogenic 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 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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