RP29
MCID: RTN057
MIFTS: 33

Retinitis Pigmentosa 29 (RP29)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 29

MalaCards integrated aliases for Retinitis Pigmentosa 29:

Name: Retinitis Pigmentosa 29 57 12 20 13 15 70
Rp29 57 12
Rp 29 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one family reported (last curated july 2008)


HPO:

31
retinitis pigmentosa 29:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110378
OMIM® 57 612165
OMIM Phenotypic Series 57 PS268000
ICD10 32 H35.5
MedGen 41 C2677325
SNOMED-CT via HPO 68 258211005 28835009 65956007
UMLS 70 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 night blindness and retinitis. An important gene associated with Retinitis Pigmentosa 29 is RP29 (Retinitis Pigmentosa 29 (Autosomal Recessive)), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, retina and bone, and related phenotypes are blindness and rod-cone dystrophy

More information from OMIM: 612165 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 night blindness 29.6 SLC24A1 LRIT3 CERKL
2 retinitis 29.1 PDE6A FAM161A EYS CNGB1 CERKL
3 retinitis pigmentosa 27.8 ZNF513 WDR17 SLC24A1 RRH RP29 PDE6A
4 macular dystrophy, dominant cystoid 10.2 PDE6A CRYAA
5 leber congenital amaurosis 3 10.2 LCA5 CRYAA
6 cone-rod dystrophy 8 10.2 ZNF513 LCA5
7 retinitis pigmentosa 73 10.1 EYS CERKL
8 leber congenital amaurosis 4 10.1 PDE6A LCA5
9 leber congenital amaurosis 2 10.1 LCA5 CRYAA
10 pathologic nystagmus 10.0 LRIT3 LCA5 CRYAA
11 retinitis pigmentosa 54 10.0 ZNF513 FAM161A
12 retinitis pigmentosa 26 10.0 CRYAA CNGB1 CERKL
13 retinitis pigmentosa 39 9.9 PDE6A CNGA1
14 yemenite deaf-blind hypopigmentation syndrome 9.9
15 neuroretinitis 9.9
16 retinitis pigmentosa 1 9.9 PDE6A CRYAA CNGA1
17 retinitis pigmentosa 28 9.9 ZNF513 LCA5 FAM161A
18 retinitis pigmentosa 45 9.9 CNGB1 CNGA1
19 achromatopsia 2 9.9 CNGB1 CNGA1
20 usher syndrome, type iic 9.9 PDE6A CNGB1
21 retinitis pigmentosa 25 9.8 PDE6A LCA5 EYS CERKL
22 night blindness, congenital stationary, type 1b 9.7 SLC24A1 LRIT3
23 cone-rod dystrophy 16 9.7 LCA5 FAM161A
24 hereditary retinal dystrophy 9.7 PDE6A EYS CRYAA CNGA1
25 color blindness 9.7 PDE6A CRYAA CNGB1 CNGA1
26 retinal degeneration 9.6 FAM161A CRYAA CNGB1 CERKL
27 usher syndrome type 2 9.5 PDE6A LCA5 EYS CNGB1 CERKL
28 stargardt disease 9.5 PDE6A LCA5 FAM161A EYS CERKL
29 retinitis pigmentosa 32 9.5 ZNF513 SLC24A1 LCA5 EYS
30 bardet-biedl syndrome 9.5 PDE6A LCA5 EYS CNGB1 CERKL
31 fundus albipunctatus 9.5 SLC24A1 RRH EYS CERKL
32 usher syndrome, type iiia 9.4 PDE6A LCA5 CNGB1 CNGA1 CERKL
33 achromatopsia 9.4 PDE6A EYS CRYAA CNGB1 CNGA1
34 eye degenerative disease 9.3 PDE6A EYS CRYAA CNGB1 CNGA1 CERKL
35 retinal disease 9.2 WDR17 PDE6A EYS CRYAA CNGB1 CNGA1
36 cone dystrophy 9.1 PDE6A LCA5 EYS CRYAA CNGB1 CNGA1
37 usher syndrome 8.9 PDE6A LCA5 FAM161A EYS CNGB1 CNGA1
38 congenital stationary night blindness 8.4 ZNF513 SLC24A1 PDE6A LRIT3 EYS CRYAA
39 cone-rod dystrophy 2 8.4 SLC24A1 PDE6A LCA5 FAM161A EYS CRYAA
40 leber plus disease 8.2 ZNF513 SLC24A1 PDE6A LCA5 FAM161A EYS
41 fundus dystrophy 8.0 ZNF513 SLC24A1 RRH PDE6A LCA5 FAM161A

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 29:



Diseases related to Retinitis Pigmentosa 29

Symptoms & Phenotypes for Retinitis Pigmentosa 29

Human phenotypes related to Retinitis Pigmentosa 29:

31
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 rod-cone dystrophy 31 HP:0000510
3 attenuation of retinal blood vessels 31 HP:0007843

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Eye, Retina, Bone

Publications for Retinitis Pigmentosa 29

Articles related to Retinitis Pigmentosa 29:

(show all 17)
# Title Authors PMID Year
1
A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family. 61 57
11381043 2001
2
Recombinant Ehrlichia P29 protein induces a protective immune response in a mouse model of ehrlichiosis. 61
24144475 2013
3
Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice. 61
19727342 2009
4
Agonists of peroxisome proliferators-activated receptors (PPAR) alpha, beta/delta or gamma reduce transforming growth factor (TGF)-beta-induced proteoglycans' production in chondrocytes. 61
17140817 2007
5
Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies. 61
16288196 2005
6
In silico characterisation and chromosomal localisation of human RRH (peropsin)--implications for opsin evolution. 61
12542842 2003
7
Cloning and characterization of WDR17, a novel WD repeat-containing gene on chromosome 4q34. 61
12401215 2002
8
The ATPase domain of hsp70 possesses a unique binding specificity for 3'-sulfogalactolipids. 61
11024054 2001
9
Serodiagnosis of recently acquired Toxoplasma gondii infection using an enzyme-linked immunosorbent assay with a combination of recombinant antigens. 61
10973455 2000
10
A novel genetic screen for snRNP assembly factors in yeast identifies a conserved protein, Sad1p, also required for pre-mRNA splicing. 61
10022888 1999
11
mRNA translation in yeast during entry into stationary phase. 61
9749671 1998
12
Nucleotide sequence of a Dictyostelium discoideum gene encoding a protein homologous to the yeast ribosomal protein S31. 61
7916591 1993
13
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. 61
1840541 1991
14
A developmentally regulated gene encodes the dictyostelium homolog of yeast ribosomal protein S4 and mammalian LLRep3 proteins. 61
1861979 1991
15
The yeast ribosomal protein L32 and its gene. 61
3316213 1987
16
A yeast ribosomal protein gene whose intron is in the 5' leader. 61
6086628 1984
17
Establishment of lymphoblastoid cell lines from Marek's disease primary tumors. 61
6314315 1983

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

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 connecting cilium GO:0032391 9.16 LCA5 FAM161A
2 photoreceptor outer segment GO:0001750 9.02 RRH EYS CNGB1 CNGA1 CERKL
3 photoreceptor outer segment membrane GO:0042622 8.96 PDE6A CNGA1

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 9.65 ZNF513 SLC24A1 RRH PDE6A LRIT3 FAM161A
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.43 PDE6A CNGB1 CNGA1
3 phototransduction GO:0007602 9.37 RRH CNGB1
4 rhodopsin mediated signaling pathway GO:0016056 9.33 PDE6A CNGB1 CNGA1
5 detection of light stimulus involved in visual perception GO:0050908 9.32 EYS CNGB1
6 visual perception GO:0007601 9.32 ZNF513 SLC24A1 RRH PDE6A LRIT3 FAM161A

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

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.26 CNGB1 CNGA1
2 intracellular cAMP-activated cation channel activity GO:0005222 9.16 CNGB1 CNGA1
3 intracellular cGMP-activated cation channel activity GO:0005223 8.96 CNGB1 CNGA1
4 intracellular cyclic nucleotide activated cation channel activity GO:0005221 8.62 CNGB1 CNGA1

Sources for Retinitis Pigmentosa 29

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....