RP34
MCID: RTN063
MIFTS: 25

Retinitis Pigmentosa 34 (RP34)

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

Aliases & Classifications for Retinitis Pigmentosa 34

MalaCards integrated aliases for Retinitis Pigmentosa 34:

Name: Retinitis Pigmentosa 34 57 12 20 13 15 70
Rp34 57 12
Rp 34 20

Classifications:



External Ids:

Disease Ontology 12 DOID:0110417
OMIM® 57 300605
OMIM Phenotypic Series 57 PS268000
ICD10 32 H35.5
UMLS 70 C1845104

Summaries for Retinitis Pigmentosa 34

Disease Ontology : 12 A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28.

MalaCards based summary : Retinitis Pigmentosa 34, also known as rp34, is related to retinitis pigmentosa and ciliary dyskinesia, primary, 8. An important gene associated with Retinitis Pigmentosa 34 is RP34 (Retinitis Pigmentosa 34 (X-Linked Recessive)). Affiliated tissues include eye, retina and thyroid.

More information from OMIM: 300605 PS268000

Related Diseases for Retinitis Pigmentosa 34

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28.8 SFTA3 RPGRIP1 RPGR RP34 RCC1L PRCD
2 ciliary dyskinesia, primary, 8 10.2 RPGR OFD1
3 ciliary dyskinesia, primary, 4 10.2 RPGR OFD1
4 retinitis pigmentosa 2 10.1 RPGR PDE6D
5 retinitis pigmentosa 17 10.1 RPGR PRCD
6 joubert syndrome 8 10.0 PDE6D OFD1
7 retinitis pigmentosa 23 10.0 RPGR OFD1
8 enhanced s-cone syndrome 10.0 RPGR CRX
9 retinitis pigmentosa 28 9.9 RPGR OFD1 CRX
10 color blindness 9.9 RPGRIP1 RPGR
11 leber congenital amaurosis 6 9.9 RPGRIP1 CRX
12 optic disk drusen 9.9 RPGRIP1 RPGR RCC1L
13 nephronophthisis 19 9.9 RPGR IQCB1
14 vitelliform macular dystrophy 9.9 SFTA3 RPGR CRX
15 stargardt disease 9.9 SFTA3 RPGR CRX
16 late-onset retinal degeneration 9.9 RPGR PRCD CRX
17 renal-hepatic-pancreatic dysplasia 9.9 OFD1 IQCB1
18 joubert syndrome 5 9.9 OFD1 IQCB1
19 alstrom syndrome 9.8 RPGR IQCB1
20 joubert syndrome 4 9.8 OFD1 IQCB1
21 orofaciodigital syndrome vi 9.8 PDE6D OFD1
22 leber congenital amaurosis 2 9.8 RPGRIP1 RPGR CRX
23 pathologic nystagmus 9.8 RPGRIP1 RPGR CRX
24 joubert syndrome 3 9.8 RPGR OFD1 IQCB1
25 nephronophthisis 2 9.8 RPGR OFD1 IQCB1
26 leber congenital amaurosis 13 9.8 RPGRIP1 IQCB1
27 cranioectodermal dysplasia 9.8 RPGR OFD1 IQCB1
28 retinoschisis 1, x-linked, juvenile 9.8 RPGR CRX
29 visceral heterotaxy 9.7 RPGR OFD1 IQCB1
30 asphyxiating thoracic dystrophy 9.7 RPGR OFD1 IQCB1
31 coach syndrome 1 9.7 OFD1 IQCB1
32 retinal disease 9.7 RPGRIP1 RPGR CRX
33 kartagener syndrome 9.7 RPGR OFD1 IQCB1
34 cone-rod dystrophy 13 9.7 RPGRIP1 RPGR IQCB1
35 coloboma of macula 9.6 OFD1 IQCB1 CRX
36 cone dystrophy 9.6 SFTA3 RPGRIP1 RPGR CRX
37 leber congenital amaurosis 1 9.5 RPGRIP1 IQCB1 CRX
38 retinal degeneration 9.5 RPGRIP1 RPGR PRCD CRX
39 leber congenital amaurosis 3 9.5 RPGRIP1 IQCB1 CRX
40 leber congenital amaurosis 4 9.5 RPGRIP1 IQCB1 CRX
41 retinal ciliopathy 9.4 RPGRIP1 RPGR PDE6D IQCB1
42 leber congenital amaurosis 10 9.4 RPGRIP1 RPGR IQCB1 CRX
43 primary ciliary dyskinesia 9.4 RPGRIP1 RPGR OFD1 IQCB1
44 eye degenerative disease 9.2 SFTA3 RPGR PRCD IQCB1 CRX
45 retinitis pigmentosa 3 9.2 RPGRIP1 RPGR RCC1L PDE6D IQCB1
46 meckel syndrome, type 1 9.2 RPGRIP1 RPGR PDE6D OFD1 IQCB1
47 congenital stationary night blindness 9.1 SFTA3 RPGRIP1 RPGR IQCB1 CRX
48 usher syndrome 9.1 SFTA3 RPGRIP1 RPGR IQCB1 CRX
49 cone-rod dystrophy 6 9.1 RPGRIP1 RPGR PRCD PDE6D IQCB1
50 eye disease 9.1 SFTA3 RPGRIP1 RPGR IQCB1 CRX

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 34:



Diseases related to Retinitis Pigmentosa 34

Symptoms & Phenotypes for Retinitis Pigmentosa 34

Clinical features from OMIM®:

300605 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 34

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 34

Genetic Tests for Retinitis Pigmentosa 34

Anatomical Context for Retinitis Pigmentosa 34

MalaCards organs/tissues related to Retinitis Pigmentosa 34:

40
Eye, Retina, Thyroid

Publications for Retinitis Pigmentosa 34

Articles related to Retinitis Pigmentosa 34:

# Title Authors PMID Year
1
Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28. 57
16740911 2006
2
Isolated biomolecules of pharmacological interest in hemostasis from Cerastes cerastes venom. 61
23849477 2013
3
Association of thyroid disease with retinitis pigmentosa and gyrate atrophy. 61
8956655 1996

Variations for Retinitis Pigmentosa 34

Expression for Retinitis Pigmentosa 34

Search GEO for disease gene expression data for Retinitis Pigmentosa 34.

Pathways for Retinitis Pigmentosa 34

GO Terms for Retinitis Pigmentosa 34

Cellular components related to Retinitis Pigmentosa 34 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.55 RPGRIP1 RPGR PRCD PDE6D OFD1
2 photoreceptor connecting cilium GO:0032391 9.26 RPGRIP1 IQCB1
3 photoreceptor outer segment GO:0001750 9.13 RPGR PRCD IQCB1
4 cilium GO:0005929 9.02 RPGRIP1 RPGR PDE6D OFD1 IQCB1

Biological processes related to Retinitis Pigmentosa 34 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.43 RPGR OFD1 IQCB1
2 response to stimulus GO:0050896 9.35 RPGRIP1 RPGR PRCD PDE6D CRX
3 cell projection organization GO:0030030 9.33 RPGR OFD1 IQCB1
4 visual perception GO:0007601 9.02 RPGRIP1 RPGR PRCD PDE6D CRX

Molecular functions related to Retinitis Pigmentosa 34 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 rRNA binding GO:0019843 8.62 RPF2 RCC1L

Sources for Retinitis Pigmentosa 34

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
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