RP28
MCID: RTN056
MIFTS: 31

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 58 12 54 76 30 13 6 15 74
Rp28 58 12 76
Retinitis Pigmentosa, Type 28 41
Rp 28 54

Characteristics:

HPO:

33
retinitis pigmentosa 28:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110365
OMIM 58 606068
MeSH 45 D012174
ICD10 34 H35.5
UMLS 74 C1419614

Summaries for Retinitis Pigmentosa 28

UniProtKB/Swiss-Prot : 76 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 retinitis pigmentosa and leber congenital amaurosis 4. An important gene associated with Retinitis Pigmentosa 28 is FAM161A (FAM161 Centrosomal Protein A), and among its related pathways/superpathways are Carbon metabolism and Citrate cycle (TCA cycle). Affiliated tissues include bone, eye and retina, and related phenotypes are nyctalopia and rod-cone dystrophy

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

Description from OMIM: 606068

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
Nonsyndromic Retinitis Pigmentosa

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

(showing 4, show less)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28.8 FAM161A IDH3B LCA5 MDH1
2 leber congenital amaurosis 4 10.1
3 retinitis 10.1
4 retinal degeneration 10.0

Symptoms & Phenotypes for Retinitis Pigmentosa 28

Human phenotypes related to Retinitis Pigmentosa 28:

33 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 nyctalopia 33 HP:0000662
2 rod-cone dystrophy 33 HP:0000510
3 optic disc pallor 33 HP:0000543
4 constriction of peripheral visual field 33 HP:0001133
5 bone spicule pigmentation of the retina 33 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 30 FAM161A

Anatomical Context for Retinitis Pigmentosa 28

MalaCards organs/tissues related to Retinitis Pigmentosa 28:

42
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 28

Articles related to Retinitis Pigmentosa 28:

(showing 7, show less)
# Title Authors Year
1
Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. ( 24833722 )
2014
2
The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association. ( 22791751 )
2012
3
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. ( 20705278 )
2010
4
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. ( 20705279 )
2010
5
Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa. ( 20011630 )
2009
6
Confirmation of linkage and refinement of the RP28 locus for autosomal recessive retinitis pigmentosa on chromosome 2p14-p15 in an Indian family. ( 15215745 )
2004
7
Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family. ( 10507729 )
1999

Variations for Retinitis Pigmentosa 28

ClinVar genetic disease variations for Retinitis Pigmentosa 28:

6 (showing 26, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 FAM161A NM_001201543.1(FAM161A): c.685C> T (p.Arg229Ter) single nucleotide variant Pathogenic rs267606794 GRCh37 Chromosome 2, 62067454: 62067454
2 FAM161A NM_001201543.1(FAM161A): c.685C> T (p.Arg229Ter) single nucleotide variant Pathogenic rs267606794 GRCh38 Chromosome 2, 61840319: 61840319
3 FAM161A NM_032180.2(FAM161A): c.1309A> T (p.Arg437Ter) single nucleotide variant Pathogenic rs200691042 GRCh37 Chromosome 2, 62066830: 62066830
4 FAM161A NM_032180.2(FAM161A): c.1309A> T (p.Arg437Ter) single nucleotide variant Pathogenic rs200691042 GRCh38 Chromosome 2, 61839695: 61839695
5 FAM161A NM_001201543.1(FAM161A): c.1355_1356delCA (p.Thr452Serfs) deletion Pathogenic rs397704718 GRCh37 Chromosome 2, 62066783: 62066784
6 FAM161A NM_001201543.1(FAM161A): c.1355_1356delCA (p.Thr452Serfs) deletion Pathogenic rs397704718 GRCh38 Chromosome 2, 61839648: 61839649
7 FAM161A NM_001201543.1(FAM161A): c.1567C> T (p.Arg523Ter) single nucleotide variant Pathogenic rs202193201 GRCh37 Chromosome 2, 62066572: 62066572
8 FAM161A NM_001201543.1(FAM161A): c.1567C> T (p.Arg523Ter) single nucleotide variant Pathogenic rs202193201 GRCh38 Chromosome 2, 61839437: 61839437
9 FAM161A NM_001201543.1(FAM161A): c.1786C> T (p.Arg596Ter) single nucleotide variant Pathogenic rs267606793 GRCh37 Chromosome 2, 62063210: 62063210
10 FAM161A NM_001201543.1(FAM161A): c.1786C> T (p.Arg596Ter) single nucleotide variant Pathogenic rs267606793 GRCh38 Chromosome 2, 61836075: 61836075
11 FAM161A NM_032180.2(FAM161A): c.1212T> C (p.Cys404=) single nucleotide variant Benign rs4672457 GRCh37 Chromosome 2, 62066927: 62066927
12 FAM161A NM_032180.2(FAM161A): c.1212T> C (p.Cys404=) single nucleotide variant Benign rs4672457 GRCh38 Chromosome 2, 61839792: 61839792
13 FAM161A NM_001201543.1(FAM161A): c.1133T> G (p.Leu378Arg) single nucleotide variant Uncertain significance rs187695569 GRCh37 Chromosome 2, 62067006: 62067006
14 FAM161A NM_001201543.1(FAM161A): c.1133T> G (p.Leu378Arg) single nucleotide variant Uncertain significance rs187695569 GRCh38 Chromosome 2, 61839871: 61839871
15 FAM161A NM_032180.2(FAM161A): c.1896T> C (p.Ile632=) single nucleotide variant Conflicting interpretations of pathogenicity rs138464813 GRCh38 Chromosome 2, 61826542: 61826542
16 FAM161A NM_032180.2(FAM161A): c.1896T> C (p.Ile632=) single nucleotide variant Conflicting interpretations of pathogenicity rs138464813 GRCh37 Chromosome 2, 62053677: 62053677
17 FAM161A NM_001201543.2(FAM161A): c.847C> T (p.Arg283Ter) single nucleotide variant Likely pathogenic rs748847284 GRCh37 Chromosome 2, 62067292: 62067292
18 FAM161A NM_001201543.2(FAM161A): c.847C> T (p.Arg283Ter) single nucleotide variant Likely pathogenic rs748847284 GRCh38 Chromosome 2, 61840157: 61840157
19 FAM161A NM_001201543.2(FAM161A): c.1501del (p.Cys501Valfs) deletion Pathogenic rs767414973 GRCh37 Chromosome 2, 62066637: 62066638
20 FAM161A NM_001201543.2(FAM161A): c.1501del (p.Cys501Valfs) deletion Pathogenic rs767414973 GRCh38 Chromosome 2, 61839503: 61839503
21 FAM161A NM_001201543.1(FAM161A): c.1946_1947delGA (p.Gly649Glufs) deletion Uncertain significance rs773858764 GRCh37 Chromosome 2, 62054297: 62054299
22 FAM161A NM_001201543.1(FAM161A): c.1946_1947delGA (p.Gly649Glufs) deletion Uncertain significance rs773858764 GRCh38 Chromosome 2, 61827163: 61827164
23 FAM161A NM_001201543.1(FAM161A): c.1584-11G> A single nucleotide variant Benign rs17513666 GRCh37 Chromosome 2, 62065851: 62065851
24 FAM161A NM_001201543.1(FAM161A): c.1584-11G> A single nucleotide variant Benign rs17513666 GRCh38 Chromosome 2, 61838716: 61838716
25 FAM161A NM_001201543.1(FAM161A): c.2124_2126delAGA (p.Glu709del) deletion Uncertain significance rs558080743 GRCh37 Chromosome 2, 62053614: 62053617
26 FAM161A NM_001201543.1(FAM161A): c.2124_2126delAGA (p.Glu709del) deletion Uncertain significance rs558080743 GRCh38 Chromosome 2, 61826480: 61826482

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

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 tricarboxylic acid cycle GO:0006099 8.96 IDH3B MDH1
2 NADH metabolic process GO:0006734 8.62 IDH3B MDH1

Molecular functions related to Retinitis Pigmentosa 28 according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 NAD binding GO:0051287 8.96 IDH3B MDH1
2 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 8.62 IDH3B MDH1

Sources for Retinitis Pigmentosa 28

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
Content
Loading form....