MCID: RTN057
MIFTS: 27

Retinitis Pigmentosa 29

Categories: Rare diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Retinitis Pigmentosa 29

MalaCards integrated aliases for Retinitis Pigmentosa 29:

Name: Retinitis Pigmentosa 29 57 12 53 13 15 73
Rp29 57 12
Rp 29 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one family reported (last curated july 2008)


HPO:

32
retinitis pigmentosa 29:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612165
Disease Ontology 12 DOID:0110378
ICD10 33 H35.5
MedGen 42 C2677325
SNOMED-CT via HPO 69 258211005 28835009
UMLS 73 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. 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 rod-cone dystrophy and attenuation of retinal blood vessels

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 28.0 OPN4 PRPF3 RGR RP29 RRH

Symptoms & Phenotypes for Retinitis Pigmentosa 29

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 attenuation of retinal blood vessels 32 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:

41
Bone, Eye

Publications for Retinitis Pigmentosa 29

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

Cellular components related to Retinitis Pigmentosa 29 according to GeneCards Suite gene sharing:

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

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 9.54 OPN4 RGR RRH
2 visual perception GO:0007601 9.5 OPN4 RGR RRH
3 phototransduction GO:0007602 9.33 OPN4 RGR RRH
4 detection of visible light GO:0009584 9.26 RGR RRH
5 protein-chromophore linkage GO:0018298 9.13 OPN4 RGR RRH
6 cellular response to light stimulus GO:0071482 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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