RP75
MCID: RTN186
MIFTS: 34

Retinitis Pigmentosa 75 (RP75)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 75

MalaCards integrated aliases for Retinitis Pigmentosa 75:

Name: Retinitis Pigmentosa 75 58 12 76 30 6 15
Rp75 58 12 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
retinitis pigmentosa 75:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110361
OMIM 58 617023
MeSH 45 D012174
ICD10 34 H35.5

Summaries for Retinitis Pigmentosa 75

UniProtKB/Swiss-Prot : 76 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 autoimmune myocarditis and chronic gonococcal salpingitis. An important gene associated with Retinitis Pigmentosa 75 is AGBL5 (ATP/GTP Binding Protein Like 5), and among its related pathways/superpathways are Allograft rejection and Immune response NFAT in immune response. Affiliated tissues include bone and eye, and related phenotypes are pallor and myopia

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 75 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 autoimmune myocarditis 10.1 TNF TNFRSF1A
2 chronic gonococcal salpingitis 10.1 TNF TNFRSF1A
3 relapsing fever 10.1 TNF TNFRSF1A
4 dystrophinopathies 10.1 TNF TNFRSF1A
5 periodic fever, familial, autosomal dominant 10.1 TNF TNFRSF1A
6 acute salpingitis 10.0 TNF TNFRSF1A
7 spondylarthropathy 10.0 TNF TNFRSF1A
8 post-transplant lymphoproliferative disease 10.0 TNF TNFRSF1A
9 chronic salpingitis 10.0 TNF TNFRSF1A
10 conjunctival disease 10.0 TNF TNFRSF1A
11 adult-onset still's disease 10.0 TNF TNFRSF1A
12 palindromic rheumatism 10.0 TNF TNFRSF1A
13 pericarditis 9.9 TNF TNFRSF1A
14 guillain-barre syndrome 9.9 TNF TNFRSF1A
15 opportunistic mycosis 9.9 SUGCT TNF
16 inflammatory bowel disease 25 9.9 IL10RB TNF
17 familial mediterranean fever 9.9 TNF TNFRSF1A
18 demyelinating disease 9.7 TNF TNFRSF1A
19 rubella 9.7 IL10RB TNF
20 mumps 9.6 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

Human phenotypes related to Retinitis Pigmentosa 75:

33
# Description HPO Frequency HPO Source Accession
1 pallor 33 HP:0000980
2 myopia 33 HP:0000545
3 nyctalopia 33 HP:0000662
4 peripheral visual field loss 33 HP:0007994
5 mixed astigmatism 33 HP:0031790

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
night blindness
attenuation of retinal vessels
bone spicule pigmentation
myopia (in 1 patient)
tunnel vision
more

Clinical features from OMIM:

617023

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 30 AGBL5

Anatomical Context for Retinitis Pigmentosa 75

MalaCards organs/tissues related to Retinitis Pigmentosa 75:

42
Bone, Eye

Publications for Retinitis Pigmentosa 75

Variations for Retinitis Pigmentosa 75

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

76
# 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.883G> A (p.Asp295Asn) single nucleotide variant Pathogenic rs879253768 GRCh38 Chromosome 2, 27055228: 27055228
3 AGBL5 NM_021831.5(AGBL5): c.826C> T (p.Arg276Trp) single nucleotide variant Pathogenic rs879253769 GRCh37 Chromosome 2, 27278039: 27278039
4 AGBL5 NM_021831.5(AGBL5): c.826C> T (p.Arg276Trp) single nucleotide variant Pathogenic rs879253769 GRCh38 Chromosome 2, 27055171: 27055171

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 IL10RB TNF TNFRSF1A
2
Show member pathways
12.24 IL10RB TNF TNFRSF1A
3
Show member pathways
11.66 TNF TNFRSF1A
4 11.64 TNF TNFRSF1A
5
Show member pathways
11.63 TNF TNFRSF1A
6
Show member pathways
11.6 IL10RB TNF TNFRSF1A
7 11.55 TNF TNFRSF1A
8
Show member pathways
11.43 TNF TNFRSF1A
9 11.42 TNF TNFRSF1A
10 11.39 TNF TNFRSF1A
11 11.38 IL10RB TNF TNFRSF1A
12 11.36 TNF TNFRSF1A
13
Show member pathways
11.32 TNF TNFRSF1A
14 11.23 TNF TNFRSF1A
15 11.18 TNF TNFRSF1A
16
Show member pathways
11.16 TNF TNFRSF1A
17 11.08 TNF TNFRSF1A
18 11.05 TNF TNFRSF1A
19 10.91 IL10RB TNF
20 10.83 TNF TNFRSF1A
21 10.62 TNF TNFRSF1A
22 10.49 IL10RB TNF TNFRSF1A

GO Terms for Retinitis Pigmentosa 75

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.61 IL10RB TNF TNFRSF1A
2 cytokine-mediated signaling pathway GO:0019221 9.54 IL10RB TNF TNFRSF1A
3 positive regulation of inflammatory response GO:0050729 9.49 TNF TNFRSF1A
4 tumor necrosis factor-mediated signaling pathway GO:0033209 9.48 TNF TNFRSF1A
5 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.46 TNF TNFRSF1A
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.4 TNF TNFRSF1A
7 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.32 TNF TNFRSF1A
8 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.26 TNF TNFRSF1A
9 positive regulation of ceramide biosynthetic process GO:2000304 9.16 TNF TNFRSF1A
10 death-inducing signaling complex assembly GO:0071550 8.96 TNF TNFRSF1A
11 regulation of establishment of endothelial barrier GO:1903140 8.62 TNF TNFRSF1A

Sources for Retinitis Pigmentosa 75

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
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