RP54
MCID: RTN085
MIFTS: 38

Retinitis Pigmentosa 54 (RP54)

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

Aliases & Classifications for Retinitis Pigmentosa 54

MalaCards integrated aliases for Retinitis Pigmentosa 54:

Name: Retinitis Pigmentosa 54 57 12 73 29 13 6 15 71
Rp54 57 12 73
Retinitis Pigmentosa, Type 54 39

Characteristics:

HPO:

31
retinitis pigmentosa 54:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110364
OMIM® 57 613428
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C3150691
UMLS 71 C3150691

Summaries for Retinitis Pigmentosa 54

UniProtKB/Swiss-Prot : 73 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 chronic interstitial cystitis and retinitis pigmentosa 67. An important gene associated with Retinitis Pigmentosa 54 is PCARE (Photoreceptor Cilium Actin Regulator). Affiliated tissues include retina, eye and bone, 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.

More information from OMIM: 613428 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 chronic interstitial cystitis 10.3 FAM161A C8orf37
2 retinitis pigmentosa 67 10.3 PCARE C8orf37
3 retinitis pigmentosa 60 10.3 IFT140 C8orf37
4 retinitis pigmentosa 71 10.3 ZNF513 C8orf37
5 retinitis pigmentosa 29 10.3 ZNF513 FAM161A
6 nonsyndromic retinitis pigmentosa 10.2 TTC8 IFT140
7 pigmented paravenous chorioretinal atrophy 10.2 TTC8 C8orf37
8 bardet-biedl syndrome 18 10.2 TTC8 C8orf37
9 occult macular dystrophy 10.2 RP1L1 PCARE
10 retinal ciliopathy 10.2 POC1B IFT140
11 bardet-biedl syndrome 16 10.2 TTC8 C8orf37
12 bardet-biedl syndrome 11 10.2 TTC8 C8orf37
13 orofaciodigital syndrome iii 10.1 TMEM231 IFT140
14 stargardt disease 10.1 RP1L1 PCARE FAM161A
15 joubert syndrome 23 10.1 DZANK1 CCDC120
16 retinitis pigmentosa 1 10.1 RP1L1 IFT140
17 meckel syndrome, type 7 10.0 TMEM231 CC2D2A
18 bardet-biedl syndrome 14 10.0 TTC8 CC2D2A C8orf37
19 joubert syndrome 15 10.0 TMEM231 CC2D2A
20 meckel syndrome, type 2 10.0 TMEM231 CC2D2A
21 meckel syndrome, type 5 10.0 TMEM231 CC2D2A
22 retinitis pigmentosa 63 10.0 ZNF513 TOPORS C8orf37
23 meckel syndrome, type 3 10.0 TMEM231 CC2D2A
24 retinitis 9.9 TOPORS RP1L1 FAM161A
25 meckel syndrome, type 4 9.9 TMEM231 CC2D2A
26 johanson-blizzard syndrome 9.9 TMEM231 CC2D2A
27 orofaciodigital syndrome ix 9.9 POC1B DZANK1 CCDC120
28 cone-rod dystrophy 20 9.9 POC1B DZANK1 CCDC120
29 seckel syndrome 7 9.9 POC1B DZANK1 CCDC120
30 ciliopathy 9.9 TMEM231 IFT140 CC2D2A
31 choroidal dystrophy, central areolar, 1 9.9 TOPORS PCARE
32 joubert syndrome 4 9.9 DZANK1 CCDC120 CC2D2A
33 polycystic kidney disease 4 with or without polycystic liver disease 9.9 TMEM231 IFT140 CC2D2A
34 short-rib thoracic dysplasia 1 with or without polydactyly 9.9 TMEM231 IFT140 CC2D2A
35 joubert syndrome 3 9.9 DZANK1 CCDC120 CC2D2A
36 asphyxiating thoracic dystrophy 9.8 TMEM231 IFT140 CC2D2A
37 retinitis pigmentosa 55 9.8 TTC8 RP1L1 PCARE FAM161A C8orf37
38 meckel syndrome, type 6 9.8 TMEM231 CC2D2A
39 retinal degeneration 9.8 TOPORS PCARE IFT140 FAM161A
40 cone dystrophy 9.7 RP1L1 POC1B CC2D2A
41 bardet-biedl syndrome 9.7 TTC8 PCARE IFT140 CC2D2A C8orf37
42 usher syndrome 9.7 TTC8 TOPORS RP1L1 PCARE
43 polydactyly 9.7 TTC8 TMEM231 IFT140 CC2D2A
44 coach syndrome 1 9.7 TMEM231 CC2D2A
45 retinitis pigmentosa 31 9.5 TTC8 TOPORS RP1L1 PCARE FAM161A C8orf37
46 retinitis pigmentosa 28 9.5 ZNF513 TOPORS POC1B PCARE FAM161A C8orf37
47 senior-loken syndrome 1 9.4 TMEM231 POC1B IFT140 FAM161A CC2D2A C8orf37
48 retinitis pigmentosa 74 9.0 TTC8 TOPORS RP1L1 PCARE FAM161A C8orf37
49 retinitis pigmentosa 62 8.9 TTC8 TOPORS RP1L1 PCARE IFT140 FAM161A
50 retinitis pigmentosa 51 8.9 TTC8 TOPORS RP1L1 PCARE IFT140 FAM161A

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 54:



Diseases related to Retinitis Pigmentosa 54

Symptoms & Phenotypes for Retinitis Pigmentosa 54

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

Clinical features from OMIM®:

613428 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 54:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 ARL2BP C8orf37 CC2D2A FAM161A IFT140 PCARE
2 vision/eye MP:0005391 9.32 ARL2BP C8orf37 CC2D2A DZANK1 FAM161A IFT140

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 29 PCARE

Anatomical Context for Retinitis Pigmentosa 54

MalaCards organs/tissues related to Retinitis Pigmentosa 54:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 54

Articles related to Retinitis Pigmentosa 54:

# Title Authors PMID Year
1
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. 57 6
20398886 2010
2
Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. 6 57
20398884 2010
3
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. 57
24780881 2014
4
A family pedigree with corneal dystrophy, tapetoretinal degeneration and albinism. 6
4543597 1973
5
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge. 61
31429209 2020
6
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation. 61
32312818 2020
7
Causes of low vision and their management at Korle Bu Teaching Hospital, Accra, GHANA. 61
28856127 2016

Variations for Retinitis Pigmentosa 54

ClinVar genetic disease variations for Retinitis Pigmentosa 54:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PCARE PCARE, TRP253TER SNV Pathogenic 101
2 PCARE NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe) SNV Pathogenic 102 rs267606690 2:29296527-29296527 2:29073661-29073661
3 PCARE NM_001029883.3(PCARE):c.947del (p.Asn316fs) Deletion Pathogenic 103 rs779886453 2:29296181-29296181 2:29073315-29073315
4 PCARE NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter) SNV Pathogenic 104 rs267606691 2:29296572-29296572 2:29073706-29073706
5 PCARE NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) Deletion Pathogenic 105 rs794728002 2:29294360-29294372 2:29071494-29071506
6 PCARE NM_001029883.3(PCARE):c.1545dup (p.Ser516fs) Duplication Pathogenic 522284 rs1553354826 2:29295582-29295583 2:29072716-29072717
7 PCARE NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter) SNV Pathogenic 599266 rs777103184 2:29295937-29295937 2:29073071-29073071
8 PCARE NM_001029883.3(PCARE):c.1541del (p.Pro514fs) Deletion Pathogenic 871084 2:29295587-29295587 2:29072721-29072721
9 PCARE NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter) SNV Likely pathogenic 829908 rs1572829010 2:29295900-29295900 2:29073034-29073034
10 PCARE NM_001029883.3(PCARE):c.3668+2T>C SNV Likely pathogenic 916720 2:29293458-29293458 2:29070592-29070592
11 PCARE NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) SNV Uncertain significance 335664 rs200696965 2:29295831-29295831 2:29072965-29072965
12 PCARE NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) SNV Likely benign 335658 rs80151896 2:29295546-29295546 2:29072680-29072680
13 PCARE NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) SNV Likely benign 195107 rs187333111 2:29287863-29287863 2:29064997-29064997
14 PCARE NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) SNV Likely benign 498856 rs140776870 2:29295284-29295284 2:29072418-29072418
15 PCARE NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) SNV Likely benign 166760 rs182248363 2:29294528-29294528 2:29071662-29071662
16 PCARE NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) SNV Benign 283187 rs200278694 2:29293681-29293681 2:29070815-29070815
17 PCARE NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) SNV Benign 193141 rs192350796 2:29294253-29294253 2:29071387-29071387
18 PCARE NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) SNV Benign 166758 rs199689791 2:29287813-29287813 2:29064947-29064947
19 PCARE NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) SNV Benign 193146 rs149601594 2:29295065-29295065 2:29072199-29072199
20 PCARE NM_001029883.3(PCARE):c.3669-2AGC[4] Microsatellite Benign 335637 2:29287927-29287929 2:29065060-29065061
21 PCARE NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) SNV Benign 335655 rs10166913 2:29295389-29295389 2:29072523-29072523

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

73
# 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

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

Cellular components related to Retinitis Pigmentosa 54 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.92 TTC8 RP1L1 POC1B IFT140 FAM161A CCDC120
2 centrosome GO:0005813 9.83 TTC8 POC1B IFT140 FAM161A ARL2BP
3 microtubule organizing center GO:0005815 9.8 TTC8 POC1B IFT140 ARL2BP
4 centriole GO:0005814 9.67 TOPORS POC1B IFT140 CCDC120
5 ciliary basal body GO:0036064 9.65 TTC8 TOPORS POC1B IFT140 FAM161A
6 cell projection GO:0042995 9.65 TTC8 TMEM231 RP1L1 POC1B PCARE IFT140
7 photoreceptor outer segment GO:0001750 9.63 RP1L1 PCARE IFT140
8 photoreceptor inner segment GO:0001917 9.58 PCARE FAM161A C8orf37
9 photoreceptor connecting cilium GO:0032391 9.55 TTC8 TOPORS RP1L1 IFT140 FAM161A
10 ciliary transition zone GO:0035869 9.52 TMEM231 CC2D2A
11 non-motile cilium GO:0097730 9.51 TTC8 IFT140
12 MKS complex GO:0036038 9.48 TMEM231 CC2D2A
13 cilium GO:0005929 9.23 TTC8 TMEM231 RP1L1 PCARE IFT140 FAM161A

Biological processes related to Retinitis Pigmentosa 54 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.76 ZNF513 RP1L1 PCARE FAM161A
2 visual perception GO:0007601 9.62 ZNF513 RP1L1 PCARE FAM161A
3 axoneme assembly GO:0035082 9.43 RP1L1 CC2D2A
4 non-motile cilium assembly GO:1905515 9.43 TTC8 IFT140 CC2D2A
5 cilium assembly GO:0060271 9.43 TTC8 TMEM231 POC1B IFT140 FAM161A CC2D2A
6 maintenance of protein location in nucleus GO:0051457 9.4 TOPORS ARL2BP
7 embryonic brain development GO:1990403 9.37 IFT140 CC2D2A
8 photoreceptor cell outer segment organization GO:0035845 9.33 TOPORS PCARE IFT140
9 cell projection organization GO:0030030 9.17 TTC8 TMEM231 RP1L1 POC1B IFT140 FAM161A

Sources for Retinitis Pigmentosa 54

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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