MCID: RTN068
MIFTS: 31

Retinitis Pigmentosa 6

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 6

MalaCards integrated aliases for Retinitis Pigmentosa 6:

Name: Retinitis Pigmentosa 6 53 12 49 14 69
Rp6 53 12
Retinitis Pigmentosa, X-Linked Recessive, 6 53
Retinitis Pigmentosa-6, X-Linked Recessive 13
Rp 6 49

Characteristics:

OMIM:

53
Inheritance:
x-linked


HPO:

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


Classifications:



External Ids:

OMIM 53 312612
Disease Ontology 12 DOID:0110413
ICD10 32 H35.5
MedGen 39 C1839368
UMLS 69 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, and has symptoms including recurrent respiratory infections, nyctalopia and rod-cone dystrophy. An important gene associated with Retinitis Pigmentosa 6 is RP6 (Retinitis Pigmentosa 6 (X-Linked Recessive)), and among its related pathways/superpathways is Opsins. Affiliated tissues include eye.

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 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 30.6 RHO RP6 RP9 RRH
2 retinitis 29.5 RHO RP9
3 cone-rod dystrophy 6 11.1
4 radin blood group antigen 10.0
5 leber congenital amaurosis 4 10.0
6 retinitis pigmentosa 10 9.9 RHO RP9
7 retinitis pigmentosa 7 9.9 RHO RP9

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



Diseases related to Retinitis Pigmentosa 6

Symptoms & Phenotypes for Retinitis Pigmentosa 6

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
retinitis pigmentosa


Clinical features from OMIM:

312612

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 chorioretinal degeneration 31 HP:0200065
6 immotile cilia 31 HP:0012263
7 constriction of peripheral visual field 31 HP:0001133

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:

38
Eye

Publications for Retinitis Pigmentosa 6

Articles related to Retinitis Pigmentosa 6:

# Title Authors Year
1
Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin. ( 1539599 )
1992

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

Pathways related to Retinitis Pigmentosa 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.58 RHO RRH

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 RHO 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 9.16 RHO RRH
2 phototransduction GO:0007602 8.96 RHO RRH
3 protein-chromophore linkage GO:0018298 8.62 RHO RRH

Molecular functions related to Retinitis Pigmentosa 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor activity GO:0009881 8.96 RHO RRH
2 G-protein coupled photoreceptor activity GO:0008020 8.62 RHO RRH

Sources for Retinitis Pigmentosa 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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