MCID: RTN056
MIFTS: 31

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 57 12 53 75 29 13 6 15 73
Rp28 57 12 75
Retinitis Pigmentosa, Type 28 40
Rp 28 53

Characteristics:

HPO:

32
retinitis pigmentosa 28:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 606068
Disease Ontology 12 DOID:0110365
ICD10 33 H35.5
MeSH 44 D012174
UMLS 73 C1419614

Summaries for Retinitis Pigmentosa 28

UniProtKB/Swiss-Prot : 75 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 and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 28 is FAM161A (FAM161A, Centrosomal Protein), and among its related pathways/superpathways are Carbon metabolism and Citrate cycle (TCA cycle). Affiliated tissues include retina, bone and eye, and related phenotypes are rod-cone dystrophy and optic disc pallor

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 29.0 FAM161A FLVCR1
2 retinitis pigmentosa 27.4 FAM161A FLVCR1 IDH3B MDH1
3 leber congenital amaurosis 4 9.9

Symptoms & Phenotypes for Retinitis Pigmentosa 28

Clinical features from OMIM:

606068

Human phenotypes related to Retinitis Pigmentosa 28:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 optic disc pallor 32 HP:0000543
3 nyctalopia 32 HP:0000662
4 constriction of peripheral visual field 32 HP:0001133
5 bone spicule pigmentation of the retina 32 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 29 FAM161A

Anatomical Context for Retinitis Pigmentosa 28

MalaCards organs/tissues related to Retinitis Pigmentosa 28:

41
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
(show all 14)
# 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.1896T> C (p.Ile632=) single nucleotide variant Conflicting interpretations of pathogenicity rs138464813 GRCh37 Chromosome 2, 62053677: 62053677
12 FAM161A NM_032180.2(FAM161A): c.1896T> C (p.Ile632=) single nucleotide variant Conflicting interpretations of pathogenicity rs138464813 GRCh38 Chromosome 2, 61826542: 61826542
13 FAM161A NM_001201543.1(FAM161A): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs777678022 GRCh37 Chromosome 2, 62067136: 62067136
14 FAM161A NM_001201543.1(FAM161A): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs777678022 GRCh38 Chromosome 2, 61840001: 61840001

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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