RP36
MCID: RTN065
MIFTS: 21

Retinitis Pigmentosa 36 (RP36)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 36

MalaCards integrated aliases for Retinitis Pigmentosa 36:

Name: Retinitis Pigmentosa 36 58 12 54 76 30 13 6 15 74
Rp36 58 12 76
Retinitis Pigmentosa, Type 36 41
Rp 36 54

Characteristics:

HPO:

33
retinitis pigmentosa 36:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110405
OMIM 58 610599
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C1864621
UMLS 74 C1864621

Summaries for Retinitis Pigmentosa 36

UniProtKB/Swiss-Prot : 76 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, is also known as rp36. An important gene associated with Retinitis Pigmentosa 36 is PRCD (Photoreceptor Disc Component). Affiliated tissues include bone, eye and retina, and related phenotypes are macular degeneration and rod-cone dystrophy

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

Description from OMIM: 610599

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
Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 36

Human phenotypes related to Retinitis Pigmentosa 36:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 macular degeneration 33 HP:0000608
2 rod-cone dystrophy 33 HP:0000510
3 optic disc pallor 33 HP:0000543
4 attenuation of retinal blood vessels 33 HP:0007843
5 bone spicule pigmentation of the retina 33 HP:0007737
6 undetectable electroretinogram 33 HP:0000550

Clinical features from OMIM:

610599

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 30 PRCD

Anatomical Context for Retinitis Pigmentosa 36

MalaCards organs/tissues related to Retinitis Pigmentosa 36:

42
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 36

Variations for Retinitis Pigmentosa 36

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

76
# Symbol AA change Variation ID SNP ID
1 PRCD p.Cys2Tyr VAR_031122 rs121918369
2 PRCD p.Val30Met VAR_031124 rs767439982
3 PRCD p.Pro25Thr VAR_078540

ClinVar genetic disease variations for Retinitis Pigmentosa 36:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRCD NM_001077620.2(PRCD): c.5G> A (p.Cys2Tyr) single nucleotide variant Pathogenic rs121918369 GRCh37 Chromosome 17, 74536228: 74536228
2 PRCD NM_001077620.2(PRCD): c.5G> A (p.Cys2Tyr) single nucleotide variant Pathogenic rs121918369 GRCh38 Chromosome 17, 76540146: 76540146
3 PRCD NM_001077620.2(PRCD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs387907268 GRCh37 Chromosome 17, 74536287: 74536287
4 PRCD NM_001077620.2(PRCD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs387907268 GRCh38 Chromosome 17, 76540205: 76540205
5 PRCD NM_001077620.2(PRCD): c.2T> C (p.Met1Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs527236092 GRCh37 Chromosome 17, 74536225: 74536225
6 PRCD NM_001077620.2(PRCD): c.2T> C (p.Met1Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs527236092 GRCh38 Chromosome 17, 76540143: 76540143

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

Sources for Retinitis Pigmentosa 36

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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