MCID: RTN186
MIFTS: 34

Retinitis Pigmentosa 75

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 75

MalaCards integrated aliases for Retinitis Pigmentosa 75:

Name: Retinitis Pigmentosa 75 53 12 71 28 14
Rp75 53 12 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
retinitis pigmentosa 75:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 617023
Disease Ontology 12 DOID:0110361
ICD10 32 H35.5
MeSH 41 D012174

Summaries for Retinitis Pigmentosa 75

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 75: A form of retinitis pigmentosa, 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. RP75 inheritance is autosomal recessive.

MalaCards based summary : Retinitis Pigmentosa 75, also known as rp75, is related to rubella and chronic gonococcal salpingitis, and has symptoms including myopia, nyctalopia and peripheral visual field loss. An important gene associated with Retinitis Pigmentosa 75 is AGBL5 (ATP/GTP Binding Protein Like 5), and among its related pathways/superpathways are Immune response NFAT in immune response and Toxoplasmosis. Affiliated tissues include bone and eye.

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the AGBL5 gene on chromosome 2p23.

Description from OMIM: 617023

Related Diseases for Retinitis Pigmentosa 75

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 75 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 rubella 9.9 IL10RB TNF
2 chronic gonococcal salpingitis 9.9 TNF TNFRSF1A
3 paratyphoid fever 9.9 TNF TNFRSF1A
4 relapsing fever 9.9 TNF TNFRSF1A
5 dystrophinopathies 9.9 TNF TNFRSF1A
6 periodic fever, familial, autosomal dominant 9.9 TNF TNFRSF1A
7 acute salpingitis 9.9 TNF TNFRSF1A
8 post-transplant lymphoproliferative disease 9.8 TNF TNFRSF1A
9 chronic salpingitis 9.8 TNF TNFRSF1A
10 palindromic rheumatism 9.8 TNF TNFRSF1A
11 exanthem 9.8 TNF TNFRSF1A
12 pericarditis 9.8 TNF TNFRSF1A
13 guillain-barre syndrome 9.8 TNF TNFRSF1A
14 spondyloarthropathy 1 9.7 TNF TNFRSF1A
15 familial mediterranean fever 9.7 TNF TNFRSF1A
16 mumps 9.7 IL10RB TNFRSF1A
17 demyelinating disease 9.6 TNF TNFRSF1A
18 psoriatic arthritis 9.6 TNF TNFRSF1A
19 inflammatory bowel disease 8.9 IL10RB TNF TNFRSF1A

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 75:



Diseases related to Retinitis Pigmentosa 75

Symptoms & Phenotypes for Retinitis Pigmentosa 75

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
night blindness
tunnel vision
myopia (in 1 patient)
mixed astigmatism (in 1 patient)
bone spicule pigmentation
more

Clinical features from OMIM:

617023

Human phenotypes related to Retinitis Pigmentosa 75:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 nyctalopia 31 HP:0000662
3 peripheral visual field loss 31 HP:0007994

Drugs & Therapeutics for Retinitis Pigmentosa 75

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 75

Genetic Tests for Retinitis Pigmentosa 75

Genetic tests related to Retinitis Pigmentosa 75:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 75 28 AGBL5

Anatomical Context for Retinitis Pigmentosa 75

MalaCards organs/tissues related to Retinitis Pigmentosa 75:

38
Bone, Eye

Publications for Retinitis Pigmentosa 75

Variations for Retinitis Pigmentosa 75

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 75:

71
# Symbol AA change Variation ID SNP ID
1 AGBL5 p.Arg276Trp VAR_077018 rs879253769
2 AGBL5 p.Asp295Asn VAR_077019 rs879253768

ClinVar genetic disease variations for Retinitis Pigmentosa 75:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AGBL5 NM_021831.5(AGBL5): c.883G> A (p.Asp295Asn) single nucleotide variant Pathogenic rs879253768 GRCh37 Chromosome 2, 27278096: 27278096
2 AGBL5 NM_021831.5(AGBL5): c.826C> T (p.Arg276Trp) single nucleotide variant Pathogenic rs879253769 GRCh37 Chromosome 2, 27278039: 27278039

Expression for Retinitis Pigmentosa 75

Search GEO for disease gene expression data for Retinitis Pigmentosa 75.

Pathways for Retinitis Pigmentosa 75

Pathways related to Retinitis Pigmentosa 75 according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 IL10RB TNF TNFRSF1A
2
Show member pathways
11.6 IL10RB TNF TNFRSF1A
3 11.58 TNF TNFRSF1A
4
Show member pathways
11.51 TNF TNFRSF1A
5 11.45 LY75 TNF
6
Show member pathways
11.44 TNF TNFRSF1A
7 11.41 TNF TNFRSF1A
8 11.4 TNF TNFRSF1A
9 11.38 IL10RB TNF TNFRSF1A
10 11.37 TNF TNFRSF1A
11
Show member pathways
11.34 TNF TNFRSF1A
12 11.24 TNF TNFRSF1A
13 11.2 TNF TNFRSF1A
14
Show member pathways
11.18 TNF TNFRSF1A
15 11.1 TNF TNFRSF1A
16 11.08 TNF TNFRSF1A
17
Show member pathways
10.96 TNF TNFRSF1A
18 10.91 IL10RB TNF
19 10.83 TNF TNFRSF1A
20 10.62 TNF TNFRSF1A
21 10.49 IL10RB TNF TNFRSF1A

GO Terms for Retinitis Pigmentosa 75

Biological processes related to Retinitis Pigmentosa 75 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.62 IL10RB LY75 TNF TNFRSF1A
2 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.46 TNF TNFRSF1A
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.43 TNF TNFRSF1A
4 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.4 TNF TNFRSF1A
5 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.37 TNF TNFRSF1A
6 positive regulation of ceramide biosynthetic process GO:2000304 9.26 TNF TNFRSF1A
7 death-inducing signaling complex assembly GO:0071550 9.16 TNF TNFRSF1A
8 regulation of establishment of endothelial barrier GO:1903140 8.96 TNF TNFRSF1A
9 inflammatory response GO:0006954 8.92 IL10RB LY75 TNF TNFRSF1A

Sources for Retinitis Pigmentosa 75

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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