RP6
MCID: RTN068
MIFTS: 28

Retinitis Pigmentosa 6 (RP6)

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

Aliases & Classifications for Retinitis Pigmentosa 6

MalaCards integrated aliases for Retinitis Pigmentosa 6:

Name: Retinitis Pigmentosa 6 56 12 52 6 15 71
Retinitis Pigmentosa, X-Linked Recessive, 6 56 13
Rp6 56 12
Rp 6 52

Characteristics:

OMIM:

56
Inheritance:
x-linked


HPO:

31
retinitis pigmentosa 6:
Inheritance x-linked inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110413
OMIM 56 312612
OMIM Phenotypic Series 56 PS268000
ICD10 32 H35.5
MedGen 41 C1839368
UMLS 71 C1839368

Summaries for Retinitis Pigmentosa 6

Disease Ontology : 12 A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.

MalaCards based summary : Retinitis Pigmentosa 6, also known as retinitis pigmentosa, x-linked recessive, 6, is related to retinitis pigmentosa 7 and cone-rod dystrophy 6. An important gene associated with Retinitis Pigmentosa 6 is RP6 (Retinitis Pigmentosa 6 (X-Linked Recessive)). Affiliated tissues include eye, retina and testes, and related phenotypes are recurrent respiratory infections and nyctalopia

More information from OMIM: 312612 PS268000

Related Diseases for Retinitis Pigmentosa 6

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 7 30.6 RPGR RP9
2 cone-rod dystrophy 6 11.4
3 retinitis pigmentosa 34 10.4 RPGR RP9
4 retinitis pigmentosa 37 10.4 RPGR RP9
5 retinitis pigmentosa 31 10.4 RPGR RP9
6 retinitis pigmentosa 14 10.4 RPGR RP9
7 retinitis pigmentosa 20 10.4 RPGR RP9
8 retinitis pigmentosa 19 10.3 RPGR RP9
9 retinitis pigmentosa 12 10.3 RPGR RP9
10 retinitis pigmentosa 4 10.3 RPGR RP9
11 retinitis pigmentosa 10 10.2 RPGR RP9
12 retinitis pigmentosa 3 10.2 RPGR RP9 MGC16275
13 retinal degeneration 10.2
14 gyrate atrophy of choroid and retina 10.2 RPGR RP9
15 retinitis pigmentosa 13 10.1 RPGR RP9
16 retinitis pigmentosa 10.1
17 neuroretinitis 10.1
18 retinitis 10.1
19 retinitis pigmentosa 17 10.0 RPGR RP9 AAR2

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 6:



Diseases related to Retinitis Pigmentosa 6

Symptoms & Phenotypes for Retinitis Pigmentosa 6

Human phenotypes related to Retinitis Pigmentosa 6:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 pigmentary retinopathy 31 HP:0000580
5 constriction of peripheral visual field 31 HP:0001133
6 chorioretinal degeneration 31 HP:0200065
7 immotile cilia 31 HP:0012263

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM:

312612

Drugs & Therapeutics for Retinitis Pigmentosa 6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Inspiratory Muscle Training on Respiratory Electromyographic Activity in Patients With COPD Participants and Non-participants of a Pulmonary Rehabilitation Program Completed NCT02014155

Search NIH Clinical Center for Retinitis Pigmentosa 6

Genetic Tests for Retinitis Pigmentosa 6

Anatomical Context for Retinitis Pigmentosa 6

MalaCards organs/tissues related to Retinitis Pigmentosa 6:

40
Eye, Retina, Testes

Publications for Retinitis Pigmentosa 6

Articles related to Retinitis Pigmentosa 6:

# Title Authors PMID Year
1
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
2
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
3
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
4
A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. 56
10690843 2000
5
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. 56
2300556 1990
6
Absence of abnormal erythrocyte superoxide dismutase, copper, or zinc levels in patients with retinitis pigmentosa. 61
7093179 1982
7
[Fundamental study on the treatment of retinitis pigmentosa. (6)]. 61
5626441 1967
8
[Studies on retinitis pigmentosa. 6. Relation between adrenaline and visual cell life]. 61
13771536 1961

Variations for Retinitis Pigmentosa 6

ClinVar genetic disease variations for Retinitis Pigmentosa 6:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPGR NM_000328.3(RPGR):c.883C>T (p.Gln295Ter)SNV Likely pathogenic 915837 X:38163939-38163939 X:38304686-38304686

Expression for Retinitis Pigmentosa 6

Search GEO for disease gene expression data for Retinitis Pigmentosa 6.

Pathways for Retinitis Pigmentosa 6

GO Terms for Retinitis Pigmentosa 6

Biological processes related to Retinitis Pigmentosa 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA processing GO:0006396 9.02 SNORD17 SNORA74B SNORA74A SNORA54 SNORA53

Sources for Retinitis Pigmentosa 6

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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