RP56
MCID: RTN116
MIFTS: 25

Retinitis Pigmentosa 56 (RP56)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 56

MalaCards integrated aliases for Retinitis Pigmentosa 56:

Name: Retinitis Pigmentosa 56 57 12 72 29 6 15 70
Rp56 57 12 72
Maculopathy, Impg2-Related 72 13
Retinitis Pigmentosa, Type 56 39
Maclp-Impg2 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
retinitis pigmentosa 56:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110371
OMIM® 57 613581
OMIM Phenotypic Series 57 PS268000
ICD10 32 H35.5
UMLS 70 C3150819

Summaries for Retinitis Pigmentosa 56

UniProtKB/Swiss-Prot : 72 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 cornelia de lange syndrome. An important gene associated with Retinitis Pigmentosa 56 is IMPG2 (Interphotoreceptor Matrix Proteoglycan 2). Affiliated tissues include eye, retina and bone, 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.

More information from OMIM: 613581 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
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 cornelia de lange syndrome 9.6 TRPS1 ANKRD11

Symptoms & Phenotypes for Retinitis Pigmentosa 56

Human phenotypes related to Retinitis Pigmentosa 56:

31
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 pigmentary retinopathy 31 HP:0000580
5 posterior subcapsular cataract 31 HP:0007787

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Eye, Retina, Bone

Publications for Retinitis Pigmentosa 56

Articles related to Retinitis Pigmentosa 56:

# Title Authors PMID Year
1
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 57 6
20673862 2010
2
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. 57
25085631 2014

Variations for Retinitis Pigmentosa 56

ClinVar genetic disease variations for Retinitis Pigmentosa 56:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IMPG2 NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter) SNV Pathogenic 3546 rs267606874 GRCh37: 3:100994538-100994538
GRCh38: 3:101275694-101275694
2 IMPG2 NM_016247.4(IMPG2):c.887+430_908+274del Deletion Pathogenic 3547 GRCh37: 3:100986081-100987929
GRCh38: 3:101267237-101269085
3 IMPG2 NM_016247.4(IMPG2):c.2716C>T (p.Arg906Ter) SNV Pathogenic 3548 rs267606876 GRCh37: 3:100962459-100962459
GRCh38: 3:101243615-101243615
4 IMPG2 NM_016247.4(IMPG2):c.85+2T>A SNV Pathogenic 522455 rs1553687118 GRCh37: 3:101039130-101039130
GRCh38: 3:101320286-101320286
5 IMPG2 NM_016247.4(IMPG2):c.1826del (p.Val609fs) Deletion Pathogenic 522456 rs1553681433 GRCh37: 3:100963349-100963349
GRCh38: 3:101244505-101244505
6 IMPG2 NM_016247.4(IMPG2):c.1087C>T (p.Gln363Ter) SNV Pathogenic 931179 GRCh37: 3:100976439-100976439
GRCh38: 3:101257595-101257595
7 IMPG2 NM_016247.4(IMPG2):c.1240-2A>G SNV Pathogenic 931664 GRCh37: 3:100964951-100964951
GRCh38: 3:101246107-101246107
8 IMPG2 NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter) SNV Pathogenic 3549 rs267606875 GRCh37: 3:100961664-100961664
GRCh38: 3:101242820-101242820
9 IMPG2 NM_016247.4(IMPG2):c.3179T>G (p.Phe1060Cys) SNV Uncertain significance 931480 GRCh37: 3:100951679-100951679
GRCh38: 3:101232835-101232835
10 IMPG2 NM_016247.4(IMPG2):c.586A>G (p.Thr196Ala) SNV Uncertain significance 930533 GRCh37: 3:100994587-100994587
GRCh38: 3:101275743-101275743

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

Sources for Retinitis Pigmentosa 56

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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