RP75
MCID: RTN186
MIFTS: 31

Retinitis Pigmentosa 75 (RP75)

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

Aliases & Classifications for Retinitis Pigmentosa 75

MalaCards integrated aliases for Retinitis Pigmentosa 75:

Name: Retinitis Pigmentosa 75 56 12 73 29 6 15
Rp75 56 12 73
Retinitis Pigmentosa, Type 75 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
retinitis pigmentosa 75:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110361
OMIM 56 617023
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5

Summaries for Retinitis Pigmentosa 75

UniProtKB/Swiss-Prot : 73 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 retinitis pigmentosa 72 and retinitis pigmentosa 55. An important gene associated with Retinitis Pigmentosa 75 is AGBL5 (ATP/GTP Binding Protein Like 5). Affiliated tissues include eye, bone and retina, and related phenotypes are myopia and pallor

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

More information from OMIM: 617023 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Nonsyndromic Retinitis Pigmentosa

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

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 72 9.8 RPGR ARHGEF18
2 retinitis pigmentosa 55 9.8 TNF RPGR
3 lynch syndrome i 9.7 EPDR1 AGBL5

Symptoms & Phenotypes for Retinitis Pigmentosa 75

Human phenotypes related to Retinitis Pigmentosa 75:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 pallor 31 HP:0000980
3 nyctalopia 31 HP:0000662
4 peripheral visual field loss 31 HP:0007994
5 mixed astigmatism 31 HP:0031790

Symptoms via clinical synopsis from OMIM:

56
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 29 AGBL5

Anatomical Context for Retinitis Pigmentosa 75

MalaCards organs/tissues related to Retinitis Pigmentosa 75:

40
Eye, Bone, Retina, Heart, Colon, Monocytes, T Cells

Publications for Retinitis Pigmentosa 75

Articles related to Retinitis Pigmentosa 75:

(show all 23)
# Title Authors PMID Year
1
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. 56 6
26355662 2016
2
Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families. 6 56
26720455 2015
3
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
4
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
5
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
6
The C-terminal end of the capsid protein of Avian Nephritis Virus is antigenic and induces broadly cross-reactive antibodies. 61
25934419 2015
7
TGF-beta1 influence on TNF-alpha production and sTNF-Rs shedding in a coculture of colon carcinoma cell spheroids with normal cells. 61
19301076 2009
8
Transcriptomic analysis of tomato carpel development reveals alterations in ethylene and gibberellin synthesis during pat3/pat4 parthenocarpic fruit set. 61
19480705 2009
9
Pathological but not physiological retinal neovascularization is altered in TNF-Rp55-receptor-deficient mice. 61
17065527 2006
10
Long-term relapse-free survival with supratentorial primitive neuroectodermal tumor in an adult: a case report. 61
16528456 2006
11
Characterisation of lymphocyte response and cytokine patterns in patients with dengue fever. 61
11776403 2001
12
The influence of pro-inflammatory cytokines on human retinal pigment epithelium cell receptors. 61
11450494 2001
13
Role of gibberellins in parthenocarpic fruit development induced by the genetic system pat-3/pat-4 in tomato. 61
11299021 2001
14
Molecular mechanism of ultraviolet-induced keratinocyte apoptosis. 61
10841072 2000
15
Cytokine modulated cell-membrane bound tumour necrosis factor expression is associated with enhanced monocyte-mediated killing of human leukaemic targets. 61
10713329 2000
16
Early preferential stimulation of gamma delta T cells by TNF-alpha. 61
9605117 1998
17
Soluble fractions of tumor necrosis factor-alpha, interleukin-6 and of their receptors in toxic epidermal necrolysis: a comparison with second-degree burns. 61
9852250 1998
18
Induction of dendritic cell differentiation by granulocyte-macrophage colony-stimulating factor, stem cell factor, and tumor necrosis factor alpha in vitro from lineage phenotypes-negative c-kit+ murine hematopoietic progenitor cells. 61
9389701 1997
19
Low-molecular-weight tumor necrosis factor receptor p55 controls induction of autoimmune heart disease. 61
9024154 1997
20
Regulation of the release of tumour necrosis factor (TNF)alpha and soluble TNF receptor by gamma irradiation and interferon gamma in Ewing's sarcoma/peripheral primitive neuroectodermal tumour cells. 61
9201246 1997
21
[Soluble TNF-alpha receptors]. 61
9489455 1997
22
[Cellular and humoral functions in acute pancreatitis]. 61
9133100 1997
23
Expression and role in growth regulation of tumour necrosis factor receptors p55 and p75 in acute myeloblastic leukaemia cells. 61
8562381 1996

Variations for Retinitis Pigmentosa 75

ClinVar genetic disease variations for Retinitis Pigmentosa 75:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AGBL5 NM_021831.6(AGBL5):c.883G>A (p.Asp295Asn)SNV Pathogenic 242932 rs879253768 2:27278096-27278096 2:27055228-27055228
2 AGBL5 NM_021831.6(AGBL5):c.826C>T (p.Arg276Trp)SNV Pathogenic 242933 rs879253769 2:27278039-27278039 2:27055171-27055171

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

73
# Symbol AA change Variation ID SNP ID
1 AGBL5 p.Arg276Trp VAR_077018 rs879253769
2 AGBL5 p.Asp295Asn VAR_077019 rs879253768

Expression for Retinitis Pigmentosa 75

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

Pathways for Retinitis Pigmentosa 75

GO Terms for Retinitis Pigmentosa 75

Cellular components related to Retinitis Pigmentosa 75 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sperm flagellum GO:0036126 8.96 RPGR LYZL4
2 vacuolar membrane GO:0005774 8.8 SLC36A4 SLC36A3 SLC36A2

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

# Name GO ID Score Top Affiliating Genes
1 amino acid transport GO:0006865 9.37 SLC36A4 SLC36A2
2 glycine transport GO:0015816 9.32 SLC36A3 SLC36A2
3 proline transport GO:0015824 9.26 SLC36A4 SLC36A2
4 proline transmembrane transport GO:0035524 9.16 SLC36A3 SLC36A2
5 amino acid transmembrane transport GO:0003333 9.13 SLC36A4 SLC36A3 SLC36A2
6 L-alanine transport GO:0015808 8.8 SLC36A4 SLC36A3 SLC36A2

Molecular functions related to Retinitis Pigmentosa 75 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 9.37 SLC36A3 SLC36A2
2 amino acid transmembrane transporter activity GO:0015171 9.33 SLC36A4 SLC36A3 SLC36A2
3 glycine transmembrane transporter activity GO:0015187 9.32 SLC36A3 SLC36A2
4 amino acid:proton symporter activity GO:0005280 9.26 SLC36A3 SLC36A2
5 L-proline transmembrane transporter activity GO:0015193 9.13 SLC36A4 SLC36A3 SLC36A2
6 L-alanine transmembrane transporter activity GO:0015180 8.8 SLC36A4 SLC36A3 SLC36A2

Sources for Retinitis Pigmentosa 75

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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