MCID: RTN056
MIFTS: 30

Retinitis Pigmentosa 28

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 28

MalaCards integrated aliases for Retinitis Pigmentosa 28:

Name: Retinitis Pigmentosa 28 53 12 49 71 28 13 14 69
Rp28 53 12 71
Rp 28 49

Characteristics:

HPO:

31
retinitis pigmentosa 28:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 606068
Disease Ontology 12 DOID:0110365
ICD10 32 H35.5
MedGen 39 C1853734
MeSH 41 D012174
UMLS 69 C1419614

Summaries for Retinitis Pigmentosa 28

UniProtKB/Swiss-Prot : 71 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, and has symptoms including rod-cone dystrophy, optic disc pallor and nyctalopia. An important gene associated with Retinitis Pigmentosa 28 is FAM161A (Family With Sequence Similarity 161 Member A), and among its related pathways/superpathways are Carbon metabolism and Citrate cycle (TCA cycle). Affiliated tissues include retina, bone and eye.

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 Nonsyndromic Retinitis Pigmentosa

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

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28.0 FAM161A FLVCR1 IDH3B MDH1
2 leber congenital amaurosis 4 9.9
3 retinitis 9.9

Symptoms & Phenotypes for Retinitis Pigmentosa 28

Clinical features from OMIM:

606068

Human phenotypes related to Retinitis Pigmentosa 28:

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

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 28 FAM161A

Anatomical Context for Retinitis Pigmentosa 28

MalaCards organs/tissues related to Retinitis Pigmentosa 28:

38
Retina, Bone, Eye

Publications for Retinitis Pigmentosa 28

Articles related to Retinitis Pigmentosa 28:

# Title Authors Year
1
The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association. ( 22791751 )
2012

Variations for Retinitis Pigmentosa 28

ClinVar genetic disease variations for Retinitis Pigmentosa 28:

6
# 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_032180.2(FAM161A): c.1309A> T (p.Arg437Ter) single nucleotide variant Pathogenic rs200691042 GRCh37 Chromosome 2, 62066830: 62066830
3 FAM161A NM_001201543.1(FAM161A): c.1355_1356delCA (p.Thr452Serfs) deletion Pathogenic rs397704718 GRCh37 Chromosome 2, 62066783: 62066784
4 FAM161A NM_001201543.1(FAM161A): c.1567C> T (p.Arg523Ter) single nucleotide variant Pathogenic rs202193201 GRCh37 Chromosome 2, 62066572: 62066572
5 FAM161A NM_001201543.1(FAM161A): c.1786C> T (p.Arg596Ter) single nucleotide variant Pathogenic rs267606793 GRCh37 Chromosome 2, 62063210: 62063210

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:

# 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:

# 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
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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