RP57
MCID: RTN117
MIFTS: 27

Retinitis Pigmentosa 57 (RP57)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 57

MalaCards integrated aliases for Retinitis Pigmentosa 57:

Name: Retinitis Pigmentosa 57 56 40 12 73 29 13 6 15 71
Rp57 56 12 73
Pde6g-Related Retinitis Pigmentosa 40
Retinitis Pigmentosa, Type 57 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
electroretinogram reduction as early as 4 years of age


HPO:

31
retinitis pigmentosa 57:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110407
OMIM 56 613582
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C3150821
UMLS 71 C3150821

Summaries for Retinitis Pigmentosa 57

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 57: 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 57, also known as rp57, is related to retinitis pigmentosa 25 and paraneoplastic cerebellar degeneration. An important gene associated with Retinitis Pigmentosa 57 is PDE6G (Phosphodiesterase 6G). Affiliated tissues include eye, bone and retina, and related phenotypes are rod-cone dystrophy and optic disc pallor

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PDE6G gene on chromosome 17q25.3.

More information from OMIM: 613582 PS268000

Related Diseases for Retinitis Pigmentosa 57

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 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 57 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 25 9.9 PDE6G CDHR1
2 paraneoplastic cerebellar degeneration 9.8 CDR2 CDR1
3 cerebellar degeneration 9.8 CDR2 CDR1
4 acute diffuse nephritis 9.8 CDR2 CDR1
5 anosognosia 9.8 CDR2 CDR1
6 denture stomatitis 9.7 CDR2 CDR1
7 schuurs-hoeijmakers syndrome 9.7 CDR2 CDR1
8 cone-rod dystrophy 1 9.6 CDR2 CDR1
9 retinitis pigmentosa 47 9.5 SNN CDR2 CDR1
10 fundus dystrophy 9.4 PDE6G CDHR1 C8orf37
11 retinitis pigmentosa 61 9.4 S100A6 CDHR1 C8orf37
12 leber congenital amaurosis 9.3 PDE6G CDHR1 C8orf37
13 cone-rod dystrophy 2 8.8 PDE6G CDR2 CDR1 CDHR1 C8orf37

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 57:



Diseases related to Retinitis Pigmentosa 57

Symptoms & Phenotypes for Retinitis Pigmentosa 57

Human phenotypes related to Retinitis Pigmentosa 57:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 optic disc pallor 31 HP:0000543
3 cystoid macular edema 31 HP:0011505
4 attenuation of retinal blood vessels 31 HP:0007843

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic disc pallor
cystoid macular edema
attenuation of retinal blood vessels
severe, early-onset eye disease
markedly constricted visual fields
more

Clinical features from OMIM:

613582

Drugs & Therapeutics for Retinitis Pigmentosa 57

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 57

Genetic Tests for Retinitis Pigmentosa 57

Genetic tests related to Retinitis Pigmentosa 57:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 57 29 PDE6G

Anatomical Context for Retinitis Pigmentosa 57

MalaCards organs/tissues related to Retinitis Pigmentosa 57:

40
Eye, Bone, Retina

Publications for Retinitis Pigmentosa 57

Articles related to Retinitis Pigmentosa 57:

# Title Authors PMID Year
1
Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. 56 6
20655036 2010
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
4
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000

Variations for Retinitis Pigmentosa 57

ClinVar genetic disease variations for Retinitis Pigmentosa 57:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDE6G NM_002602.4(PDE6G):c.187+1G>TSNV Pathogenic 13102 17:79618674-79618674 17:81651644-81651644

Expression for Retinitis Pigmentosa 57

Search GEO for disease gene expression data for Retinitis Pigmentosa 57.

Pathways for Retinitis Pigmentosa 57

GO Terms for Retinitis Pigmentosa 57

Cellular components related to Retinitis Pigmentosa 57 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment membrane GO:0042622 8.62 PDE6G CDHR1

Biological processes related to Retinitis Pigmentosa 57 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell morphogenesis GO:0008594 8.62 CDHR1 C8orf37

Sources for Retinitis Pigmentosa 57

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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