RP54
MCID: RTN085
MIFTS: 23

Retinitis Pigmentosa 54 (RP54)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 54

MalaCards integrated aliases for Retinitis Pigmentosa 54:

Name: Retinitis Pigmentosa 54 58 12 76 30 13 6 15 74
Rp54 58 12 76
Retinitis Pigmentosa, Type 54 41

Characteristics:

HPO:

33
retinitis pigmentosa 54:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110364
OMIM 58 613428
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C3150691
UMLS 74 C3150691

Summaries for Retinitis Pigmentosa 54

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 54: 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 54, also known as rp54, is related to retinitis pigmentosa 30. An important gene associated with Retinitis Pigmentosa 54 is PCARE (Photoreceptor Cilium Actin Regulator). Affiliated tissues include bone, eye and retina, and related phenotypes are visual impairment and abnormal electroretinogram

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the C2ORF71 gene on chromosome 2p23.

Description from OMIM: 613428

Related Diseases for Retinitis Pigmentosa 54

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

Diseases related to Retinitis Pigmentosa 54 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 30 9.1 CENPV DDX17 LBR

Symptoms & Phenotypes for Retinitis Pigmentosa 54

Human phenotypes related to Retinitis Pigmentosa 54:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 abnormal electroretinogram 33 HP:0000512
3 nyctalopia 33 HP:0000662
4 rod-cone dystrophy 33 HP:0000510
5 fundus atrophy 33 HP:0001099
6 attenuation of retinal blood vessels 33 HP:0007843
7 bone spicule pigmentation of the retina 33 HP:0007737

Clinical features from OMIM:

613428

Drugs & Therapeutics for Retinitis Pigmentosa 54

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 54

Genetic Tests for Retinitis Pigmentosa 54

Genetic tests related to Retinitis Pigmentosa 54:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 54 30 PCARE

Anatomical Context for Retinitis Pigmentosa 54

MalaCards organs/tissues related to Retinitis Pigmentosa 54:

42
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 54

Articles related to Retinitis Pigmentosa 54:

# Title Authors Year
1
Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. ( 20398884 )
2010
2
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. ( 20398886 )
2010
3
A family pedigree with corneal dystrophy, tapetoretinal degeneration and albinism. ( 4543597 )
1973

Variations for Retinitis Pigmentosa 54

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 54:

76
# Symbol AA change Variation ID SNP ID
1 PCARE p.Ile201Phe VAR_063395 rs267606690
2 PCARE p.Asp372Asn VAR_065273 rs201284350
3 PCARE p.Leu612Pro VAR_065275 rs200758183
4 PCARE p.Val615Asp VAR_065276 rs140776870

ClinVar genetic disease variations for Retinitis Pigmentosa 54:

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCARE C2ORF71, TRP253TER single nucleotide variant Pathogenic
2 PCARE NM_001029883.2(PCARE): c.601A> T (p.Ile201Phe) single nucleotide variant Pathogenic rs267606690 GRCh37 Chromosome 2, 29296527: 29296527
3 PCARE NM_001029883.2(PCARE): c.601A> T (p.Ile201Phe) single nucleotide variant Pathogenic rs267606690 GRCh38 Chromosome 2, 29073661: 29073661
4 PCARE NM_001029883.2(PCARE): c.947delA (p.Asn316Metfs) deletion Pathogenic rs779886453 GRCh37 Chromosome 2, 29296181: 29296181
5 PCARE NM_001029883.2(PCARE): c.947delA (p.Asn316Metfs) deletion Pathogenic rs779886453 GRCh38 Chromosome 2, 29073315: 29073315
6 PCARE NM_001029883.2(PCARE): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs267606691 GRCh37 Chromosome 2, 29296572: 29296572
7 PCARE NM_001029883.2(PCARE): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs267606691 GRCh38 Chromosome 2, 29073706: 29073706
8 PCARE NM_001029883.2(PCARE): c.2756_2768del13 (p.Lys919Thrfs) deletion Pathogenic rs794728002 GRCh37 Chromosome 2, 29294360: 29294372
9 PCARE NM_001029883.2(PCARE): c.2756_2768del13 (p.Lys919Thrfs) deletion Pathogenic rs794728002 GRCh38 Chromosome 2, 29071494: 29071506
10 PCARE NM_001029883.2(PCARE): c.2600C> T (p.Pro867Leu) single nucleotide variant Likely benign rs182248363 GRCh37 Chromosome 2, 29294528: 29294528
11 PCARE NM_001029883.2(PCARE): c.2600C> T (p.Pro867Leu) single nucleotide variant Likely benign rs182248363 GRCh38 Chromosome 2, 29071662: 29071662
12 PCARE NM_001029883.2(PCARE): c.2875G> A (p.Ala959Thr) single nucleotide variant Benign rs192350796 GRCh37 Chromosome 2, 29294253: 29294253
13 PCARE NM_001029883.2(PCARE): c.2875G> A (p.Ala959Thr) single nucleotide variant Benign rs192350796 GRCh38 Chromosome 2, 29071387: 29071387
14 PCARE NM_001029883.2(PCARE): c.3739G> A (p.Gly1247Ser) single nucleotide variant Benign/Likely benign rs187333111 GRCh37 Chromosome 2, 29287863: 29287863
15 PCARE NM_001029883.2(PCARE): c.3739G> A (p.Gly1247Ser) single nucleotide variant Benign/Likely benign rs187333111 GRCh38 Chromosome 2, 29064997: 29064997
16 PCARE NM_001029883.2(PCARE): c.3447G> A (p.Pro1149=) single nucleotide variant Benign/Likely benign rs200278694 GRCh37 Chromosome 2, 29293681: 29293681
17 PCARE NM_001029883.2(PCARE): c.3447G> A (p.Pro1149=) single nucleotide variant Benign/Likely benign rs200278694 GRCh38 Chromosome 2, 29070815: 29070815
18 PCARE NM_001029883.2(PCARE): c.1297C> T (p.Pro433Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200696965 GRCh38 Chromosome 2, 29072965: 29072965
19 PCARE NM_001029883.2(PCARE): c.1297C> T (p.Pro433Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200696965 GRCh37 Chromosome 2, 29295831: 29295831
20 PCARE NM_001029883.2(PCARE): c.1545dup (p.Ser516Ilefs) duplication Pathogenic rs1553354826 GRCh37 Chromosome 2, 29295583: 29295583
21 PCARE NM_001029883.2(PCARE): c.1545dup (p.Ser516Ilefs) duplication Pathogenic rs1553354826 GRCh38 Chromosome 2, 29072717: 29072717
22 PCARE NM_001029883.3(PCARE): c.1191G> A (p.Trp397Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 29295937: 29295937
23 PCARE NM_001029883.3(PCARE): c.1191G> A (p.Trp397Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 29073071: 29073071

Expression for Retinitis Pigmentosa 54

Search GEO for disease gene expression data for Retinitis Pigmentosa 54.

Pathways for Retinitis Pigmentosa 54

GO Terms for Retinitis Pigmentosa 54

Sources for Retinitis Pigmentosa 54

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
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52 NDF-RT
55 NINDS
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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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