MCID: RTN160
MIFTS: 40

Retinitis Pigmentosa 60

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 60

MalaCards integrated aliases for Retinitis Pigmentosa 60:

Name: Retinitis Pigmentosa 60 57 12 75 29 13 6 15 73
Rp60 57 12 75
Retinitis Pigmentosa, Type 60 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
retinitis pigmentosa 60:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613983
Disease Ontology 12 DOID:0110411
ICD10 33 H35.5
MedGen 42 C3151434
MeSH 44 D012174
UMLS 73 C3151434

Summaries for Retinitis Pigmentosa 60

UniProtKB/Swiss-Prot : 75 Retinitis pigmentosa 60: 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 60, also known as rp60, is related to granulocytopenia and arthus reaction. An important gene associated with Retinitis Pigmentosa 60 is PRPF6 (Pre-MRNA Processing Factor 6), and among its related pathways/superpathways are Toxoplasmosis and Dilated cardiomyopathy (DCM). Affiliated tissues include bone and eye, and related phenotypes are visual impairment and rod-cone dystrophy

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PRPF6 gene on chromosome 20q13.33.

Description from OMIM: 613983

Related Diseases for Retinitis Pigmentosa 60

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 granulocytopenia 10.4 SELL TNF
2 arthus reaction 10.3 SELL TNF
3 plummer's disease 10.2 SELE SELL
4 boutonneuse fever 10.2 SELE SELL
5 leukostasis 10.2 SELE SELL
6 shwartzman phenomenon 10.2 SELE SELL
7 leukocyte adhesion deficiency, type i 10.2 SELE SELL
8 critical limb ischemia 10.2 SELE TNF
9 pleurisy 10.1 SELL TNF
10 scleritis 10.1 SELE TNF
11 rheumatoid vasculitis 10.1 SELE TNF
12 pustulosis palmaris et plantaris 10.1 SELE TNF
13 cytomegalovirus infection 10.1 SELE TNF
14 localized scleroderma 10.1 SELE TNF
15 plasmodium vivax malaria 10.1 SELE TNF
16 systemic onset juvenile idiopathic arthritis 9.9 IL1B TNF
17 staphylococcal toxic shock syndrome 9.9 IL1B TNF
18 autoimmune myocarditis 9.9 IL1B TNF
19 kashin-beck disease 9.9 IL1B TNF
20 vulvar vestibulitis syndrome 9.9 IL1B TNF
21 burns 9.9 IL1B TNF
22 laryngitis 9.9 IL1B TNF
23 cerebral artery occlusion 9.9 IL1B TNF
24 haemophilus influenzae 9.9 IL1B TNF
25 irritant dermatitis 9.9 IL1B TNF
26 acute vascular insufficiency of intestine 9.9 IL1B TNF
27 poems syndrome 9.9 IL1B TNF
28 crohn's colitis 9.9 IL1B TNF
29 central nervous system vasculitis 9.9 IL1B TNF
30 osteosclerotic myeloma 9.9 IL1B TNF
31 cutaneous lupus erythematosus 9.9 SELE TNF
32 stachybotrys chartarum 9.9 IL1B TNF
33 dental pulp disease 9.9 IL1B TNF
34 jejunoileitis 9.9 IL1B TNF
35 eales disease 9.9 IL1B TNF
36 blau syndrome 9.9 IL1B TNF
37 aseptic meningitis 9.8 IL1B TNF
38 scrub typhus 9.8 IL1B TNF
39 joint disorders 9.8 IL1B TNF
40 pulpitis 9.8 IL1B TNF
41 middle ear disease 9.8 IL1B TNF
42 pleural disease 9.8 IL1B TNF
43 commensal bacterial infectious disease 9.8 IL1B TNF
44 q fever 9.8 IL1B TNF
45 funisitis 9.8 IL1B SELE
46 lacrimal apparatus disease 9.8 IL1B TNF
47 adult-onset still's disease 9.8 IL1B TNF
48 perinatal necrotizing enterocolitis 9.8 IL1B TNF
49 aphthous stomatitis 9.8 IL1B TNF
50 palindromic rheumatism 9.8 IL1B TNF

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 60:



Diseases related to Retinitis Pigmentosa 60

Symptoms & Phenotypes for Retinitis Pigmentosa 60

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
reduced night vision
reduced peripheral vision
reduced visual acuity
waxy pallor of optic discs
atrophy of retinal pigment epithelium
more

Clinical features from OMIM:

613983

Human phenotypes related to Retinitis Pigmentosa 60:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 rod-cone dystrophy 32 HP:0000510
3 reduced visual acuity 32 HP:0007663

MGI Mouse Phenotypes related to Retinitis Pigmentosa 60:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.1 TNF IL1B ITGA5 ITGA6 SELE SELL

Drugs & Therapeutics for Retinitis Pigmentosa 60

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 60

Genetic Tests for Retinitis Pigmentosa 60

Genetic tests related to Retinitis Pigmentosa 60:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 60 29 PRPF6

Anatomical Context for Retinitis Pigmentosa 60

MalaCards organs/tissues related to Retinitis Pigmentosa 60:

41
Bone, Eye

Publications for Retinitis Pigmentosa 60

Variations for Retinitis Pigmentosa 60

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 60:

75
# Symbol AA change Variation ID SNP ID
1 PRPF6 p.Arg729Trp VAR_065768 rs387907100

ClinVar genetic disease variations for Retinitis Pigmentosa 60:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPF6 NM_012469.3(PRPF6): c.2185C> T (p.Arg729Trp) single nucleotide variant Pathogenic rs387907100 GRCh37 Chromosome 20, 62658491: 62658491
2 PRPF6 NM_012469.3(PRPF6): c.2185C> T (p.Arg729Trp) single nucleotide variant Pathogenic rs387907100 GRCh38 Chromosome 20, 64027138: 64027138

Expression for Retinitis Pigmentosa 60

Search GEO for disease gene expression data for Retinitis Pigmentosa 60.

Pathways for Retinitis Pigmentosa 60

Pathways related to Retinitis Pigmentosa 60 according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12 IL1B ITGA6 TNF
2
Show member pathways
11.94 ITGA5 ITGA6 TNF
3 11.84 ITGA6 SELE SELL
4 11.8 IL1B SELE TNF
5
Show member pathways
11.71 ITGA5 ITGA6 SELE SELL
6 11.67 IL1B SELE TNF
7 11.6 IL1B SELE TNF
8 11.46 IL1B ITGA5 TNF
9 11.41 IL1B SELL TNF
10
Show member pathways
11.3 IL1B SELE TNF
11 11.26 IL1B TNF
12
Show member pathways
11.24 IL1B TNF
13 11.2 ITGA5 ITGA6
14 11.18 SELE SELL
15 11.13 IL1B TNF
16 11.12 IL1B SELE TNF
17 11.08 IL1B TNF
18 11.06 IL1B TNF
19 11.03 IL1B TNF
20 10.91 IL1B ITGA5 ITGA6 TNF
21 10.88 IL1B TNF
22 10.7 IL1B TNF
23 10.68 IL1B SELE TNF

GO Terms for Retinitis Pigmentosa 60

Cellular components related to Retinitis Pigmentosa 60 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.26 ITGA5 ITGA6 SELL TNF
2 integrin complex GO:0008305 9.16 ITGA5 ITGA6
3 external side of plasma membrane GO:0009897 8.92 ITGA5 ITGA6 SELL TNF

Biological processes related to Retinitis Pigmentosa 60 according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.89 ITGA5 ITGA6 SELE SELL
2 positive regulation of cell migration GO:0030335 9.77 IL1B ITGA5 ITGA6
3 extracellular matrix organization GO:0030198 9.76 ITGA5 ITGA6 TNF
4 protein kinase B signaling GO:0043491 9.64 IL1B TNF
5 positive regulation of interferon-gamma production GO:0032729 9.64 IL1B TNF
6 positive regulation of nitric oxide biosynthetic process GO:0045429 9.63 IL1B TNF
7 positive regulation of cell-substrate adhesion GO:0010811 9.63 ITGA5 ITGA6
8 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.62 IL1B TNF
9 positive regulation of phagocytosis GO:0050766 9.62 IL1B TNF
10 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.61 IL1B TNF
11 lipopolysaccharide-mediated signaling pathway GO:0031663 9.61 IL1B TNF
12 positive regulation of interleukin-8 production GO:0032757 9.58 IL1B TNF
13 leukocyte cell-cell adhesion GO:0007159 9.57 ITGA5 SELE
14 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.56 IL1B ITGA5
15 response to ATP GO:0033198 9.55 IL1B SELL
16 cell-substrate adhesion GO:0031589 9.54 ITGA5 ITGA6
17 cellular response to organic cyclic compound GO:0071407 9.54 IL1B ITGA6 TNF
18 negative regulation of lipid catabolic process GO:0050995 9.52 IL1B TNF
19 cell adhesion mediated by integrin GO:0033627 9.51 ITGA5 ITGA6
20 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.49 IL1B TNF
21 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.48 IL1B TNF
22 positive regulation of chemokine biosynthetic process GO:0045080 9.46 IL1B TNF
23 cell-substrate junction assembly GO:0007044 9.43 ITGA5 ITGA6
24 regulation of establishment of endothelial barrier GO:1903140 9.4 IL1B TNF
25 positive regulation of fever generation GO:0031622 9.32 IL1B TNF
26 sequestering of triglyceride GO:0030730 9.26 IL1B TNF
27 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.16 IL1B TNF
28 leukocyte tethering or rolling GO:0050901 9.13 SELE SELL TNF
29 leukocyte migration GO:0050900 9.1 IL1B ITGA5 ITGA6 SELE SELL TNF

Molecular functions related to Retinitis Pigmentosa 60 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.13 IL1B ITGA5 ITGA6
2 oligosaccharide binding GO:0070492 8.62 SELE SELL

Sources for Retinitis Pigmentosa 60

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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