RP55
MCID: RTN090
MIFTS: 38

Retinitis Pigmentosa 55 (RP55)

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

Aliases & Classifications for Retinitis Pigmentosa 55

MalaCards integrated aliases for Retinitis Pigmentosa 55:

Name: Retinitis Pigmentosa 55 57 12 72 29 13 6 15 70
Rp55 57 12 72
Retinitis Pigmentosa, Type 55 39

Characteristics:

HPO:

31
retinitis pigmentosa 55:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110370
OMIM® 57 613575
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C3150808
SNOMED-CT via HPO 68 258211005 28835009
UMLS 70 C3150808

Summaries for Retinitis Pigmentosa 55

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 55: 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 55, also known as rp55, is related to chronic interstitial cystitis and retinitis pigmentosa 67. An important gene associated with Retinitis Pigmentosa 55 is ARL6 (ADP Ribosylation Factor Like GTPase 6), and among its related pathways/superpathways are Transcription factor regulation in adipogenesis and Overview of nanoparticle effects. Affiliated tissues include eye, retina and colon, and related phenotypes are rod-cone dystrophy and vision/eye

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the ARL6 gene on chromosome 3q11.2.

More information from OMIM: 613575 PS268000

Related Diseases for Retinitis Pigmentosa 55

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
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 55 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 chronic interstitial cystitis 10.3 FAM161A C8orf37
2 retinitis pigmentosa 67 10.3 PCARE C8orf37
3 nonsyndromic retinitis pigmentosa 10.2 TTC8 ARL6
4 retinitis pigmentosa 71 10.2 PCARE C8orf37
5 external pathological resorption 10.2 TNF IL6
6 scorpion envenomation 10.2 TNF IL6
7 physiological polycythemia 10.2 TNF IL6
8 idiopathic anterior uveitis 10.2 TNF IL6
9 streptococcal toxic-shock syndrome 10.2 TNF IL6
10 angioimmunoblastic lymphadenopathy with dysproteinemia 10.2 TNF IL6
11 cardiogenic shock 10.2 TNF IL6
12 null-cell leukemia 10.2 TNF IL6
13 ulcer of lower limbs 10.2 TNF IL6
14 systemic onset juvenile idiopathic arthritis 10.2 TNF IL6
15 stachybotrys chartarum 10.2 TNF IL6
16 posterior urethral valves 10.2 TNF IL6
17 bacterial conjunctivitis 10.2 TNF IL6
18 tracheitis 10.2 TNF IL6
19 carbuncle 10.2 TNF IL6
20 post-transplant lymphoproliferative disease 10.2 TNF IL6
21 superficial basal cell carcinoma 10.2 TNF IL6
22 hypopyon 10.2 TNF IL6
23 enterocolitis 10.2 TNF IL6
24 eales disease 10.2 TNF IL6
25 tenosynovitis 10.2 TNF IL6
26 aortitis 10.2 TNF IL6
27 coronary aneurysm 10.2 TNF IL6
28 chondromalacia 10.2 TNF IL6
29 pigmented paravenous chorioretinal atrophy 10.2 TTC8 C8orf37
30 anthracosis 10.2 TNF IL6
31 progressive myoclonus epilepsy 8 10.2 TNF IL6
32 lung abscess 10.2 TNF IL6
33 heart aneurysm 10.2 TNF IL6
34 neurotic disorder 10.2 TNF IL6
35 peptic esophagitis 10.2 TNF IL6
36 bursitis 10.2 TNF IL6
37 scleral disease 10.2 TNF IL6
38 gingival recession 10.2 TNF IL6
39 combat disorder 10.2 TNF IL6
40 laryngitis 10.2 TNF IL6
41 salpingitis 10.2 TNF IL6
42 vaginal discharge 10.2 TNF IL6
43 irritant dermatitis 10.2 TNF IL6
44 iritis 10.2 TNF IL6
45 background diabetic retinopathy 10.2 TNF IL6
46 chorioretinitis 10.2 TNF IL6
47 periapical periodontitis 10.2 TNF IL6
48 trichomoniasis 10.1 TNF IL6
49 taeniasis 10.1 TNF IL6
50 african tick-bite fever 10.1 TNF IL6

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 55:



Diseases related to Retinitis Pigmentosa 55

Symptoms & Phenotypes for Retinitis Pigmentosa 55

Human phenotypes related to Retinitis Pigmentosa 55:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510

Clinical features from OMIM®:

613575 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 55:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 ARL6 C8orf37 EYA3 FAM161A IL6 PCARE

Drugs & Therapeutics for Retinitis Pigmentosa 55

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 55

Genetic Tests for Retinitis Pigmentosa 55

Genetic tests related to Retinitis Pigmentosa 55:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 55 29 ARL6

Anatomical Context for Retinitis Pigmentosa 55

MalaCards organs/tissues related to Retinitis Pigmentosa 55:

40
Eye, Retina, Colon

Publications for Retinitis Pigmentosa 55

Articles related to Retinitis Pigmentosa 55:

(show all 39)
# Title Authors PMID Year
1
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. 6 57
19858128 2010
2
Molecular characterization of retinitis pigmentosa in Saudi Arabia. 6 57
19956407 2009
3
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing. 57
31736247 2020
4
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. 6
21282186 2011
5
Biochemical characterization of missense mutations in the Arf/Arl-family small GTPase Arl6 causing Bardet-Biedl syndrome. 6
19236846 2009
6
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 6
15314642 2004
7
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 6
15258860 2004
8
Contribution of the TNF-α (Tumor Necrosis Factor-α)-TNF-Rp55 (Tumor Necrosis Factor Receptor p55) Axis in the Resolution of Venous Thrombus. 61
30354252 2018
9
Association of Vitamin A Supplementation With Disease Course in Children With Retinitis Pigmentosa. 61
29596553 2018
10
Immunohistochemical detection of intrathrombotic macrophage-derived cytokines and its application to thrombus age estimation in murine deep vein thrombosis model. 61
23708565 2013
11
Isotype-switched immunoglobulin G antibodies to HIV Gag proteins may provide alternative or additional immune responses to 'protective' human leukocyte antigen-B alleles in HIV controllers. 61
23364441 2013
12
Critical role of TNF-α-induced macrophage VEGF and iNOS production in the experimental corneal neovascularization. 61
22570350 2012
13
Representative proteomes: a stable, scalable and unbiased proteome set for sequence analysis and functional annotation. 61
21556138 2011
14
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
15
Blocking TNF-alpha in mice reduces colorectal carcinogenesis associated with chronic colitis. 61
18219394 2008
16
Catalytically active Yersinia outer protein P induces cleavage of RIP and caspase-8 at the level of the DISC independently of death receptors in dendritic cells. 61
17624595 2007
17
Acute alcohol intake impairs lung inflammation by changing pro- and anti-inflammatory mediator balance. 61
17889310 2007
18
Pathological but not physiological retinal neovascularization is altered in TNF-Rp55-receptor-deficient mice. 61
17065527 2006
19
Three copies of the ATP2 gene are arranged in tandem on chromosome X in the yeast Saccharomyces cerevisiae. 61
15776236 2005
20
Spontaneous regression of lung metastasis in the absence of tumor necrosis factor receptor p55. 61
15386364 2004
21
The pathogenic roles of tumor necrosis factor receptor p55 in acetaminophen-induced liver injury in mice. 61
14557383 2004
22
Cytokine activation and intestinal mucosal and renal dysfunction are reduced in endovascular AAA repair compared to surgery. 61
12877599 2003
23
Essential roles of tumor necrosis factor receptor p55 in liver metastasis of intrasplenic administration of colon 26 cells. 61
12438267 2002
24
Accelerated wound healing in tumor necrosis factor receptor p55-deficient mice with reduced leukocyte infiltration. 61
12087057 2002
25
Molecular mechanism of ultraviolet-induced keratinocyte apoptosis. 61
10841072 2000
26
Cytokine modulated cell-membrane bound tumour necrosis factor expression is associated with enhanced monocyte-mediated killing of human leukaemic targets. 61
10713329 2000
27
Immunization with recombinant Pneumocystis carinii p55 antigen provides partial protection against infection: characterization of epitope recognition associated with immunization. 61
10742685 2000
28
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
29
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
30
Delayed molecular responses to brain irradiation. 61
9246193 1997
31
Low-molecular-weight tumor necrosis factor receptor p55 controls induction of autoimmune heart disease. 61
9024154 1997
32
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
33
[Soluble TNF-alpha receptors]. 61
9489455 1997
34
Is there a correlation between tumor necrosis factor alpha and soluble p-55 receptor plasma levels in advanced gastrointestinal cancer patients? 61
9604778 1996
35
Expression and role in growth regulation of tumour necrosis factor receptors p55 and p75 in acute myeloblastic leukaemia cells. 61
8562381 1996
36
Tumour necrosis factor alpha (TNF-alpha), interleukin-6 (IL-6) and their soluble receptors (sTNF-alpha-Rp55 and slL-6R) serum levels in systemic lupus erythematodes. 61
18475749 1996
37
Functional analysis of a duplicated linked pair of ribosomal protein genes in Saccharomyces cerevisiae. 61
2233736 1990
38
Genetic mapping of two pairs of linked ribosomal protein genes in Saccharomyces cerevisiae. 61
3329973 1987
39
Transcriptional regulation of ribosomal proteins during a nutritional upshift in Saccharomyces cerevisiae. 61
3023933 1986

Variations for Retinitis Pigmentosa 55

ClinVar genetic disease variations for Retinitis Pigmentosa 55:

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARL6 NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg) SNV Pathogenic 2044 rs104893680 GRCh37: 3:97487043-97487043
GRCh38: 3:97768199-97768199
2 ARL6 NM_001278293.3(ARL6):c.185+1G>C SNV Pathogenic 576069 rs1559679965 GRCh37: 3:97499065-97499065
GRCh38: 3:97780221-97780221
3 ARL6 NM_001278293.3(ARL6):c.266C>T (p.Ala89Val) SNV Pathogenic 2045 rs587777805 GRCh37: 3:97503810-97503810
GRCh38: 3:97784966-97784966
4 ARL6 NC_000003.12:g.(?_97768108)_(97768230_?)del Deletion Pathogenic 832088 GRCh37: 3:97486952-97487074
GRCh38:
5 ARL6 NM_001278293.3(ARL6):c.373dup (p.Ile125fs) Duplication Pathogenic 977510 GRCh37: 3:97506855-97506856
GRCh38: 3:97788011-97788012
6 ARL6 NM_001278293.3(ARL6):c.350-13_350-2del Deletion Likely pathogenic 656044 rs1576465252 GRCh37: 3:97506818-97506829
GRCh38: 3:97787974-97787985
7 ARL6 NM_001278293.3(ARL6):c.506del (p.Gly169fs) Deletion Likely pathogenic 861499 GRCh37: 3:97510640-97510640
GRCh38: 3:97791796-97791796
8 ARL6 NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg) SNV Uncertain significance 936753 GRCh37: 3:97510634-97510634
GRCh38: 3:97791790-97791790
9 ARL6 NM_001278293.3(ARL6):c.550G>T (p.Val184Leu) SNV Uncertain significance 941393 GRCh37: 3:97516882-97516882
GRCh38: 3:97798038-97798038
10 ARL6 NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln) SNV Uncertain significance 900891 GRCh37: 3:97506849-97506849
GRCh38: 3:97788005-97788005
11 ARL6 NM_001278293.3(ARL6):c.17G>A (p.Arg6Lys) SNV Uncertain significance 1003434 GRCh37: 3:97486968-97486968
GRCh38: 3:97768124-97768124
12 ARL6 NM_001278293.3(ARL6):c.349+4T>C SNV Uncertain significance 1006892 GRCh37: 3:97503897-97503897
GRCh38: 3:97785053-97785053
13 ARL6 NM_001278293.3(ARL6):c.551_552del (p.Val184fs) Microsatellite Uncertain significance 954679 GRCh37: 3:97516881-97516882
GRCh38: 3:97798037-97798038
14 ARL6 NM_001278293.3(ARL6):c.226T>C (p.Tyr76His) SNV Uncertain significance 1014365 GRCh37: 3:97499499-97499499
GRCh38: 3:97780655-97780655
15 ARL6 NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp) SNV Uncertain significance 899728 GRCh37: 3:97487072-97487072
GRCh38: 3:97768228-97768228
16 ARL6 NM_001278293.3(ARL6):c.328G>A (p.Asp110Asn) SNV Uncertain significance 1026308 GRCh37: 3:97503872-97503872
GRCh38: 3:97785028-97785028
17 ARL6 NM_001278293.3(ARL6):c.40_42AAG[2] (p.Lys16del) Microsatellite Uncertain significance 838345 GRCh37: 3:97486990-97486992
GRCh38: 3:97768146-97768148
18 ARL6 NM_001278293.3(ARL6):c.493A>G (p.Ile165Val) SNV Uncertain significance 840342 GRCh37: 3:97510628-97510628
GRCh38: 3:97791784-97791784
19 ARL6 NM_001278293.3(ARL6):c.140T>A (p.Ile47Asn) SNV Uncertain significance 663541 rs757995078 GRCh37: 3:97499019-97499019
GRCh38: 3:97780175-97780175
20 ARL6 NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys) SNV Uncertain significance 1024607 GRCh37: 3:97487000-97487000
GRCh38: 3:97768156-97768156
21 ARL6 NM_001278293.3(ARL6):c.317A>G (p.Lys106Arg) SNV Uncertain significance 853015 GRCh37: 3:97503861-97503861
GRCh38: 3:97785017-97785017
22 ARL6 NM_001278293.3(ARL6):c.536-4T>C SNV Likely benign 346943 rs201939836 GRCh37: 3:97516864-97516864
GRCh38: 3:97798020-97798020
23 ARL6 NM_001278293.3(ARL6):c.350-7C>T SNV Likely benign 696100 rs375454860 GRCh37: 3:97506827-97506827
GRCh38: 3:97787983-97787983
24 ARL6 NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly) SNV Likely benign 798181 rs148745414 GRCh37: 3:97506926-97506926
GRCh38: 3:97788082-97788082
25 ARL6 NM_001278293.3(ARL6):c.192A>G (p.Ser64=) SNV Benign 700474 rs140114162 GRCh37: 3:97499465-97499465
GRCh38: 3:97780621-97780621
26 ARL6 NM_001278293.3(ARL6):c.480-8C>T SNV Benign 262017 rs77010939 GRCh37: 3:97510607-97510607
GRCh38: 3:97791763-97791763

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 55:

72
# Symbol AA change Variation ID SNP ID
1 ARL6 p.Ala89Val VAR_064184 rs587777805

Expression for Retinitis Pigmentosa 55

Search GEO for disease gene expression data for Retinitis Pigmentosa 55.

Pathways for Retinitis Pigmentosa 55

Pathways related to Retinitis Pigmentosa 55 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.3 TNF IL6
2 9.9 TNF IL6

GO Terms for Retinitis Pigmentosa 55

Cellular components related to Retinitis Pigmentosa 55 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.33 PCARE FAM161A C8orf37
2 photoreceptor connecting cilium GO:0032391 9.13 TTC8 RP1L1 FAM161A
3 cilium GO:0005929 9.02 TTC8 RP1L1 PCARE FAM161A ARL6

Biological processes related to Retinitis Pigmentosa 55 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neurogenesis GO:0050768 9.46 TNF IL6
2 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.43 TNF IL6
3 positive regulation of glial cell proliferation GO:0060252 9.4 TNF IL6
4 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.37 TNF IL6
5 positive regulation of neuroinflammatory response GO:0150078 9.32 TNF IL6
6 negative regulation of lipid storage GO:0010888 9.26 TNF IL6
7 cell projection organization GO:0030030 9.26 TTC8 RP1L1 FAM161A ARL6
8 vascular endothelial growth factor production GO:0010573 9.16 TNF IL6
9 visual perception GO:0007601 9.02 RP1L1 PCARE FAM161A EYA3 ARL6

Sources for Retinitis Pigmentosa 55

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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