RP28
MCID: RTN056
MIFTS: 33

Retinitis Pigmentosa 28 (RP28)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 28

MalaCards integrated aliases for Retinitis Pigmentosa 28:

Name: Retinitis Pigmentosa 28 56 12 52 73 29 13 6 15 71
Rp28 56 12 73
Retinitis Pigmentosa, Type 28 39
Rp 28 52

Characteristics:

HPO:

31
retinitis pigmentosa 28:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110365
OMIM 56 606068
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
UMLS 71 C1419614

Summaries for Retinitis Pigmentosa 28

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 28: 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 28, also known as rp28, is related to fundus dystrophy and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 28 is FAM161A (FAM161 Centrosomal Protein A). Affiliated tissues include retina, eye and bone, and related phenotypes are rod-cone dystrophy and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the FAM161A gene on chromosome 2p15.

More information from OMIM: 606068 PS268000

Related Diseases for Retinitis Pigmentosa 28

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 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 28 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 24, show less)
# Related Disease Score Top Affiliating Genes
1 fundus dystrophy 28.6 ZNF513 POC1B LCA5 FAM161A CRX
2 retinitis pigmentosa 28.1 ZNF513 POC1B MDH1 LCA5 FAM161B FAM161A
3 neuroretinitis 10.2
4 retinitis 10.2
5 retinitis pigmentosa 54 10.2 ZNF513 FAM161A
6 cone-rod dystrophy 8 10.2 ZNF513 LCA5
7 yemenite deaf-blind hypopigmentation syndrome 10.2
8 night blindness 10.2
9 retinitis pigmentosa 32 10.2 ZNF513 LCA5
10 retinal degeneration 10.1
11 retinitis pigmentosa 29 10.0 ZNF513 LCA5 FAM161A
12 hereditary retinal dystrophy 10.0
13 inherited retinal disorder 10.0
14 leber congenital amaurosis 7 9.8 LCA5 CRX
15 leber congenital amaurosis 1 9.8 LCA5 CRX
16 leber congenital amaurosis 10 9.8 LCA5 CRX
17 leber congenital amaurosis 9 9.7 LCA5 CRX
18 leber congenital amaurosis 3 9.7 LCA5 CRX
19 leber congenital amaurosis 4 9.6 LCA5 CRX
20 stargardt disease 9.6 LCA5 FAM161A CRX
21 senior-loken syndrome 1 9.5 POC1B LCA5 CRX
22 leber congenital amaurosis 2 9.4 LCA5 CRX
23 congenital stationary night blindness 9.3 ZNF513 LCA5 CRX
24 leber congenital amaurosis 9.3 POC1B LCA5 FAM161A CRX

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 28:



Diseases related to Retinitis Pigmentosa 28

Symptoms & Phenotypes for Retinitis Pigmentosa 28

Human phenotypes related to Retinitis Pigmentosa 28:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 nyctalopia 31 HP:0000662
3 optic disc pallor 31 HP:0000543
4 constriction of peripheral visual field 31 HP:0001133
5 bone spicule pigmentation of the retina 31 HP:0007737

Clinical features from OMIM:

606068

Drugs & Therapeutics for Retinitis Pigmentosa 28

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 28

Genetic Tests for Retinitis Pigmentosa 28

Genetic tests related to Retinitis Pigmentosa 28:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 28 29 FAM161A

Anatomical Context for Retinitis Pigmentosa 28

MalaCards organs/tissues related to Retinitis Pigmentosa 28:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 28

Articles related to Retinitis Pigmentosa 28:

(showing 26, show less)
# Title Authors PMID Year
1
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. 61 56 6
20705278 2010
2
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. 61 56 6
20705279 2010
3
Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family. 61 56 6
10507729 1999
4
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
5
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
6
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
7
Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population. 61
26246154 2015
8
Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. 61
24833722 2014
9
Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family. 61
24520187 2014
10
FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa. 61
24664697 2014
11
The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association. 61
22791751 2012
12
Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa. 61
20011630 2009
13
Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes. 61
15326156 2004
14
Confirmation of linkage and refinement of the RP28 locus for autosomal recessive retinitis pigmentosa on chromosome 2p14-p15 in an Indian family. 61
15215745 2004
15
Immunodiagnosis of Ehrlichia canis infection with recombinant proteins. 61
11136790 2001
16
Western and dot blotting analyses of Ehrlichia chaffeensis indirect fluorescent-antibody assay-positive and -negative human sera by using native and recombinant E. chaffeensis and E. canis antigens. 61
10565902 1999
17
Cloning and characterization of multigenes encoding the immunodominant 30-kilodalton major outer membrane proteins of Ehrlichia canis and application of the recombinant protein for serodiagnosis. 61
9705412 1998
18
Sequence analysis of a 30 kb DNA segment from yeast chromosome XIV carrying a ribosomal protein gene cluster, the genes encoding a plasma membrane protein and a subunit of replication factor C, and a novel putative serine/threonine protein kinase gene. 61
8553702 1995
19
Functional analysis of a duplicated linked pair of ribosomal protein genes in Saccharomyces cerevisiae. 61
2233736 1990
20
Transcriptional control of yeast ribosomal protein synthesis during carbon-source upshift. 61
3320961 1987
21
[An attempt at using monoclonal antibodies to oncogene products]. 61
3300558 1987
22
Specific binding of TUF factor to upstream activation sites of yeast ribosomal protein genes. 61
3301327 1987
23
Genetic mapping of two pairs of linked ribosomal protein genes in Saccharomyces cerevisiae. 61
3329973 1987
24
Structure and organization of two linked ribosomal protein genes in yeast. 61
6387623 1984
25
Generalized transduction in Corynebacterium renale. 61
5438039 1970
26
[Studies on retinitis pigmentosa. 28. Rhodopsin contents and ERG findings of experimental retinal degeneration and hereditary retinal dystrophy in mice]. 61
5390607 1969

Variations for Retinitis Pigmentosa 28

ClinVar genetic disease variations for Retinitis Pigmentosa 28:

6 (showing 13, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAM161A NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter)SNV Pathogenic 35 rs267606794 2:62067454-62067454 2:61840319-61840319
2 FAM161A NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)SNV Pathogenic 36 rs200691042 2:62066830-62066830 2:61839695-61839695
3 FAM161A NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)deletion Pathogenic 37 rs397704718 2:62066783-62066784 2:61839648-61839649
4 FAM161A NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)SNV Pathogenic 38 rs202193201 2:62066572-62066572 2:61839437-61839437
5 FAM161A NM_001201543.2(FAM161A):c.1786C>T (p.Arg596Ter)SNV Pathogenic 39 rs267606793 2:62063210-62063210 2:61836075-61836075
6 FAM161A NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)deletion Pathogenic 552429 rs767414973 2:62066638-62066638 2:61839503-61839503
7 FAM161A NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter)SNV Likely pathogenic 546864 rs748847284 2:62067292-62067292 2:61840157-61840157
8 FAM161A NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)SNV Conflicting interpretations of pathogenicity 167058 rs187695569 2:62067006-62067006 2:61839871-61839871
9 FAM161A NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)SNV Conflicting interpretations of pathogenicity 336733 rs138464813 2:62053677-62053677 2:61826542-61826542
10 FAM161A NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs)deletion Uncertain significance 550916 rs773858764 2:62054298-62054299 2:61827163-61827164
11 FAM161A NM_001201543.2(FAM161A):c.2121_2123AGA[1] (p.Glu709del)short repeat Uncertain significance 553904 rs558080743 2:62053615-62053617 2:61826480-61826482
12 FAM161A NM_001201543.2(FAM161A):c.1584-11G>ASNV Benign 552348 rs17513666 2:62065851-62065851 2:61838716-61838716
13 FAM161A NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=)SNV Benign 96217 rs4672457 2:62066927-62066927 2:61839792-61839792

Expression for Retinitis Pigmentosa 28

Search GEO for disease gene expression data for Retinitis Pigmentosa 28.

Pathways for Retinitis Pigmentosa 28

GO Terms for Retinitis Pigmentosa 28

Cellular components related to Retinitis Pigmentosa 28 according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 photoreceptor connecting cilium GO:0032391 8.96 LCA5 FAM161A
2 ciliary basal body GO:0036064 8.8 POC1B LCA5 FAM161A

Biological processes related to Retinitis Pigmentosa 28 according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.13 ZNF513 FAM161A CRX
2 cilium organization GO:0044782 8.62 FAM161B FAM161A

Sources for Retinitis Pigmentosa 28

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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