MCID: RTN057
MIFTS: 29

Retinitis Pigmentosa 29

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 29

MalaCards integrated aliases for Retinitis Pigmentosa 29:

Name: Retinitis Pigmentosa 29 53 12 49 13 14 69
Rp29 53 12
Rp 29 49

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
one family reported (last curated july 2008)


HPO:

31
retinitis pigmentosa 29:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 612165
Disease Ontology 12 DOID:0110378
ICD10 32 H35.5
MedGen 39 C2677325
SNOMED-CT via HPO 65 258211005 28835009
UMLS 69 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 retinitis, and has symptoms including rod-cone dystrophy and attenuation of retinal blood vessels. 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.

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 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 29 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 29.6 OPN4 PRPF3 RGR RP29 RRH
2 retinitis 9.6 PRPF3 RGR

Symptoms & Phenotypes for Retinitis Pigmentosa 29

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
retinitis pigmentosa
constricted visual fields by age 20 years
night blindness by age 20 years
loss of central vision between ages 25-30 years
complete blindness between ages 40-50 years
more

Clinical features from OMIM:

612165

Human phenotypes related to Retinitis Pigmentosa 29:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 attenuation of retinal blood vessels 31 HP:0007843

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:

38
Bone, Eye

Publications for Retinitis Pigmentosa 29

Articles related to Retinitis Pigmentosa 29:

# Title Authors Year
1
A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family. ( 11381043 )
2001

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.5 OPN4 RGR RRH
2 visual perception GO:0007601 9.43 OPN4 RGR RRH
3 detection of visible light GO:0009584 9.16 RGR RRH
4 phototransduction GO:0007602 9.13 OPN4 RGR RRH
5 protein-chromophore linkage GO:0018298 8.8 OPN4 RGR RRH

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

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor activity GO:0004930 9.33 OPN4 RGR RRH
2 photoreceptor activity GO:0009881 9.13 OPN4 RGR RRH
3 G-protein coupled photoreceptor activity GO:0008020 8.8 OPN4 RGR RRH

Sources for Retinitis Pigmentosa 29

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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