RP57
MCID: RTN117
MIFTS: 22

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 58 42 12 76 30 13 6 74
Rp57 58 12 76
Pde6g-Related Retinitis Pigmentosa 42
Retinitis Pigmentosa, Type 57 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
electroretinogram reduction as early as 4 years of age


HPO:

33
retinitis pigmentosa 57:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110407
OMIM 58 613582
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C3150821
UMLS 74 C3150821

Summaries for Retinitis Pigmentosa 57

UniProtKB/Swiss-Prot : 76 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, is also known as rp57. An important gene associated with Retinitis Pigmentosa 57 is PDE6G (Phosphodiesterase 6G). Affiliated tissues include eye and bone, 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.

Description from OMIM: 613582

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
Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 57

Human phenotypes related to Retinitis Pigmentosa 57:

33
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 33 HP:0000510
2 optic disc pallor 33 HP:0000543
3 attenuation of retinal blood vessels 33 HP:0007843
4 cystoid macular edema 33 HP:0011505

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
optic disc pallor
attenuation of retinal blood vessels
cystoid macular edema
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 30 PDE6G

Anatomical Context for Retinitis Pigmentosa 57

MalaCards organs/tissues related to Retinitis Pigmentosa 57:

42
Eye, Bone

Publications for Retinitis Pigmentosa 57

Articles related to Retinitis Pigmentosa 57:

# Title Authors Year
1
Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. ( 20655036 )
2010

Variations for Retinitis Pigmentosa 57

ClinVar genetic disease variations for Retinitis Pigmentosa 57:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE6G PDE6G, IVS3DS, G-T, +1 single nucleotide variant Pathogenic

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

Sources for Retinitis Pigmentosa 57

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
Content
Loading form....