RP29
MCID: RTN057
MIFTS: 30

Retinitis Pigmentosa 29 (RP29)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 29

MalaCards integrated aliases for Retinitis Pigmentosa 29:

Name: Retinitis Pigmentosa 29 58 12 54 13 15 74
Rp29 58 12
Rp 29 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one family reported (last curated july 2008)


HPO:

33
retinitis pigmentosa 29:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110378
OMIM 58 612165
ICD10 34 H35.5
MedGen 43 C2677325
SNOMED-CT via HPO 70 258211005 28835009 65956007
UMLS 74 C2677325

Summaries for Retinitis Pigmentosa 29

Disease Ontology : 12 A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.

MalaCards based summary : Retinitis Pigmentosa 29, also known as rp29, is related to retinitis pigmentosa and cone-rod dystrophy and hearing loss 2. An important gene associated with Retinitis Pigmentosa 29 is RP29 (Retinitis Pigmentosa 29 (Autosomal Recessive)), and among its related pathways/superpathways is Opsins. Affiliated tissues include bone and eye, and related phenotypes are blindness and rod-cone dystrophy

Description from OMIM: 612165

Related Diseases for Retinitis Pigmentosa 29

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

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 30.6 OPN4 PRPF3 RGR RP29 RRH
2 cone-rod dystrophy and hearing loss 2 11.1

Symptoms & Phenotypes for Retinitis Pigmentosa 29

Human phenotypes related to Retinitis Pigmentosa 29:

33 (showing 3, show less)
# Description HPO Frequency HPO Source Accession
1 blindness 33 HP:0000618
2 rod-cone dystrophy 33 HP:0000510
3 attenuation of retinal blood vessels 33 HP:0007843

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
attenuation of retinal blood vessels
retinitis pigmentosa
constricted visual fields by age 20 years
night blindness by age 20 years
loss of central vision between ages 25-30 years
more

Clinical features from OMIM:

612165

Drugs & Therapeutics for Retinitis Pigmentosa 29

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 29

Genetic Tests for Retinitis Pigmentosa 29

Anatomical Context for Retinitis Pigmentosa 29

MalaCards organs/tissues related to Retinitis Pigmentosa 29:

42
Bone, Eye

Publications for Retinitis Pigmentosa 29

Articles related to Retinitis Pigmentosa 29:

(showing 2, show less)
# Title Authors Year
1
A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family. ( 11381043 )
2001
2
Screening a yeast promoter library leads to the isolation of the RP29/L32 and SNR17B/RPL37A divergent promoters and the discovery of a gene encoding ribosomal protein L37. ( 1840541 )
1991

Variations for Retinitis Pigmentosa 29

Expression for Retinitis Pigmentosa 29

Search GEO for disease gene expression data for Retinitis Pigmentosa 29.

Pathways for Retinitis Pigmentosa 29

Pathways related to Retinitis Pigmentosa 29 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1 9.75 OPN4 RGR RRH

GO Terms for Retinitis Pigmentosa 29

Biological processes related to Retinitis Pigmentosa 29 according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.54 OPN4 RGR RRH
2 visual perception GO:0007601 9.5 OPN4 RGR RRH
3 phototransduction GO:0007602 9.43 OPN4 RGR RRH
4 cellular response to light stimulus GO:0071482 9.33 OPN4 RGR RRH
5 protein-chromophore linkage GO:0018298 9.13 OPN4 RGR RRH
6 detection of visible light GO:0009584 8.8 OPN4 RGR RRH

Molecular functions related to Retinitis Pigmentosa 29 according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled photoreceptor activity GO:0008020 9.13 OPN4 RGR RRH
2 photoreceptor activity GO:0009881 8.8 OPN4 RGR RRH

Sources for Retinitis Pigmentosa 29

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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