MCID: RTN085
MIFTS: 20

Retinitis Pigmentosa 54

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 54

MalaCards integrated aliases for Retinitis Pigmentosa 54:

Name: Retinitis Pigmentosa 54 53 12 71 28 13 69
Rp54 53 12 71

Characteristics:

HPO:

31
retinitis pigmentosa 54:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613428
Disease Ontology 12 DOID:0110364
ICD10 32 H35.5
MedGen 39 C3150691
MeSH 41 D012174
UMLS 69 C3150691

Summaries for Retinitis Pigmentosa 54

UniProtKB/Swiss-Prot : 71 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, is also known as rp54, and has symptoms including visual impairment, abnormal electroretinogram and nyctalopia. An important gene associated with Retinitis Pigmentosa 54 is C2orf71 (Chromosome 2 Open Reading Frame 71). Affiliated tissues include bone, eye and retina.

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 Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 54

Clinical features from OMIM:

613428

Human phenotypes related to Retinitis Pigmentosa 54:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 abnormal electroretinogram 31 HP:0000512
3 nyctalopia 31 HP:0000662
4 rod-cone dystrophy 31 HP:0000510
5 fundus atrophy 31 HP:0001099
6 attenuation of retinal blood vessels 31 HP:0007843
7 bone spicule pigmentation of the retina 31 HP:0007737

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 28 C2orf71

Anatomical Context for Retinitis Pigmentosa 54

MalaCards organs/tissues related to Retinitis Pigmentosa 54:

38
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 54

Variations for Retinitis Pigmentosa 54

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

71
# Symbol AA change Variation ID SNP ID
1 C2orf71 p.Ile201Phe VAR_063395 rs267606690
2 C2orf71 p.Asp372Asn VAR_065273 rs201284350
3 C2orf71 p.Leu612Pro VAR_065275 rs200758183
4 C2orf71 p.Val615Asp VAR_065276 rs140776870

ClinVar genetic disease variations for Retinitis Pigmentosa 54:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C2orf71 C2ORF71, TRP253TER single nucleotide variant Pathogenic
2 C2orf71 NM_001029883.2(C2orf71): c.601A> T (p.Ile201Phe) single nucleotide variant Pathogenic rs267606690 GRCh37 Chromosome 2, 29296527: 29296527
3 C2orf71 NM_001029883.2(C2orf71): c.947delA (p.Asn316Metfs) deletion Pathogenic rs779886453 GRCh37 Chromosome 2, 29296181: 29296181
4 C2orf71 NM_001029883.2(C2orf71): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs267606691 GRCh37 Chromosome 2, 29296572: 29296572
5 C2orf71 NM_001029883.2(C2orf71): c.2756_2768delAGCCAGCCCTGGA (p.Lys919Thrfs) deletion Pathogenic rs794728002 GRCh37 Chromosome 2, 29294360: 29294372
6 C2orf71 NM_001029883.2(C2orf71): c.2227_2228delAG (p.Leu744Glufs) deletion Pathogenic rs886044002 GRCh37 Chromosome 2, 29294900: 29294901
7 C2orf71 NM_001029883.2(C2orf71): c.1828C> T (p.Gln610Ter) single nucleotide variant Pathogenic rs886044003 GRCh37 Chromosome 2, 29295300: 29295300
8 C2orf71 NM_001029883.2(C2orf71): c.2506G> T (p.Glu836Ter) single nucleotide variant Pathogenic rs886044135 GRCh37 Chromosome 2, 29294622: 29294622

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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