RP36
MCID: RTN065
MIFTS: 30

Retinitis Pigmentosa 36 (RP36)

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

Aliases & Classifications for Retinitis Pigmentosa 36

MalaCards integrated aliases for Retinitis Pigmentosa 36:

Name: Retinitis Pigmentosa 36 57 12 20 72 29 13 6 15 70
Rp36 57 12 72
Retinitis Pigmentosa, Type 36 39
Rp 36 20

Characteristics:

HPO:

31
retinitis pigmentosa 36:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110405
OMIM® 57 610599
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1864621
UMLS 70 C1864621

Summaries for Retinitis Pigmentosa 36

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 36: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 36, also known as rp36, is related to mitochondrial dna-associated leigh syndrome and mitochondrial dna-associated leigh syndrome and narp. An important gene associated with Retinitis Pigmentosa 36 is PRCD (Photoreceptor Disc Component). Affiliated tissues include retina, eye and bone, and related phenotypes are rod-cone dystrophy and optic disc pallor

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PRCD gene on chromosome 17q25.

More information from OMIM: 610599 PS268000

Related Diseases for Retinitis Pigmentosa 36

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

# Related Disease Score Top Affiliating Genes
1 mitochondrial dna-associated leigh syndrome 10.0 MT-TV MT-TK
2 mitochondrial dna-associated leigh syndrome and narp 10.0 MT-TV MT-TK
3 retinitis pigmentosa 32 9.9 MT-TV MT-TK
4 retinitis pigmentosa 14 9.9 MT-TV MT-TK
5 retinitis pigmentosa 20 9.9 MT-TV MT-TK
6 retinitis pigmentosa 12 9.9 MT-TV MT-TK
7 mental retardation, autosomal dominant 30 9.8 MT-TV MT-TK
8 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 9.7 MT-TV MT-TK
9 retinitis pigmentosa 22 9.6 MT-TV MT-TK CDHR1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 36:



Diseases related to Retinitis Pigmentosa 36

Symptoms & Phenotypes for Retinitis Pigmentosa 36

Human phenotypes related to Retinitis Pigmentosa 36:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 optic disc pallor 31 HP:0000543
3 macular degeneration 31 HP:0000608
4 attenuation of retinal blood vessels 31 HP:0007843
5 bone spicule pigmentation of the retina 31 HP:0007737
6 undetectable electroretinogram 31 HP:0000550

Clinical features from OMIM®:

610599 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 36

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 36

Genetic Tests for Retinitis Pigmentosa 36

Genetic tests related to Retinitis Pigmentosa 36:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 36 29 PRCD

Anatomical Context for Retinitis Pigmentosa 36

MalaCards organs/tissues related to Retinitis Pigmentosa 36:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 36

Articles related to Retinitis Pigmentosa 36:

# Title Authors PMID Year
1
Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. 57 6
20507925 2010
2
Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. 6 57
16938425 2006
3
Colonization of Germ-Free Piglets with Mucinolytic and Non-Mucinolytic Bifidobacterium boum Strains Isolated from the Intestine of Wild Boar and Their Interference with Salmonella Typhimurium. 61
33333934 2020
4
LncRNA PLAC2 down-regulates RPL36 expression and blocks cell cycle progression in glioma through a mechanism involving STAT1. 61
28922548 2018
5
Identification and pathogenicity of Vibrio ponticus affecting cultured Japanese sea bass, Lateolabrax japonicus (Cuvier in Cuvier and Valenciennes). 61
17594462 2007
6
Analysis of peripherin/RDS gene for Japanese retinal dystrophies. 61
9690896 1998
7
Characterization of human recombinant annexin II tetramer purified from bacteria: role of N-terminal acetylation. 61
9047302 1997

Variations for Retinitis Pigmentosa 36

ClinVar genetic disease variations for Retinitis Pigmentosa 36:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYGB , PRCD NM_001077620.3(PRCD):c.5G>A (p.Cys2Tyr) SNV Pathogenic 1188 rs121918369 GRCh37: 17:74536228-74536228
GRCh38: 17:76540146-76540146
2 CYGB , PRCD NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter) SNV Pathogenic 37041 rs387907268 GRCh37: 17:74536287-74536287
GRCh38: 17:76540205-76540205
3 CYGB , PRCD NM_001077620.3(PRCD):c.2T>C (p.Met1Thr) SNV Uncertain significance 143095 rs527236092 GRCh37: 17:74536225-74536225
GRCh38: 17:76540143-76540143

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 36:

72
# Symbol AA change Variation ID SNP ID
1 PRCD p.Cys2Tyr VAR_031122 rs121918369
2 PRCD p.Pro25Thr VAR_078540

Expression for Retinitis Pigmentosa 36

Search GEO for disease gene expression data for Retinitis Pigmentosa 36.

Pathways for Retinitis Pigmentosa 36

GO Terms for Retinitis Pigmentosa 36

Cellular components related to Retinitis Pigmentosa 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment membrane GO:0042622 8.62 PRCD CDHR1

Biological processes related to Retinitis Pigmentosa 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translational initiation GO:0006413 9.26 RPS2 RPL36
2 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.16 RPS2 RPL36
3 viral transcription GO:0019083 8.96 RPS2 RPL36
4 SRP-dependent cotranslational protein targeting to membrane GO:0006614 8.62 RPS2 RPL36

Sources for Retinitis Pigmentosa 36

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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