RP6
MCID: RTN068
MIFTS: 31

Retinitis Pigmentosa 6 (RP6)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 6

MalaCards integrated aliases for Retinitis Pigmentosa 6:

Name: Retinitis Pigmentosa 6 58 12 54 15 74
Rp6 58 12
Retinitis Pigmentosa, X-Linked Recessive, 6 58
Retinitis Pigmentosa-6, X-Linked Recessive 13
Rp 6 54

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
retinitis pigmentosa 6:
Inheritance x-linked inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110413
OMIM 58 312612
ICD10 34 H35.5
MedGen 43 C1839368
UMLS 74 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 rp6, is related to retinitis pigmentosa and retinitis. An important gene associated with Retinitis Pigmentosa 6 is RP6 (Retinitis Pigmentosa 6 (X-Linked Recessive)). Affiliated tissues include eye, and related phenotypes are recurrent respiratory infections and nyctalopia

Description from OMIM: 312612

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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 31.4 RP6 RP9 RPGR RRH
2 retinitis 30.2 RP9 RPGR
3 cone-rod dystrophy 6 11.2
4 perrault syndrome 1 11.1
5 leber congenital amaurosis 4 10.3
6 retinitis pigmentosa 13 9.7 RP9 RPGR

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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 33 HP:0002205
2 nyctalopia 33 HP:0000662
3 rod-cone dystrophy 33 HP:0000510
4 constriction of peripheral visual field 33 HP:0001133
5 pigmentary retinopathy 33 HP:0000580
6 chorioretinal degeneration 33 HP:0200065
7 immotile cilia 33 HP:0012263

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM:

312612

Drugs & Therapeutics for Retinitis Pigmentosa 6

Search Clinical Trials , 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:

42
Eye

Publications for Retinitis Pigmentosa 6

Articles related to Retinitis Pigmentosa 6:

# Title Authors Year
1
Sensitometric effects of varying the intensifying screens used with Agfa Dentus ST8G and RP6 panoramic radiographic films. ( 9442613 )
1997
2
Plasma growth hormone response to growth hormone-releasing hexapeptide (GH-RP-6) in children with short stature. ( 7488815 )
1995
3
Nucleotide sequence of a rice (Oryza sativa) prolamin storage protein gene, RP6. ( 8310050 )
1993
4
Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6. ( 1783395 )
1991
5
Controlled ultrafiltration during single-pass dialysis with the RP-6 dialyzer and evaluation of its time-dependent ultrafiltration index. ( 7417031 )
1980
6
A simple method for incorporating single pass dialysate delivery and controlled ultrafiltration with the RP-6 high flux dialyzer. ( 512178 )
1979
7
In vitro characterization of the RP-6 dialyzer: co-current and counter-current clearance as a function of ultrafiltration. ( 512179 )
1979
8
Mathematical and clinical investigation of the RP6-rhodial 75 system. Evaluation of high and low middle molecular clearance dialysis. ( 694443 )
1978
9
Short dialysis with a polyacrylonitrilmembrane (RP 6) without the use of a closed recirculating dialyzate delivery system. ( 1157345 )
1975

Variations for Retinitis Pigmentosa 6

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

Cellular components related to Retinitis Pigmentosa 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.62 RPGR RRH

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.62 RPGR RRH

Sources for Retinitis Pigmentosa 6

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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