RP62
MCID: RTN146
MIFTS: 33

Retinitis Pigmentosa 62 (RP62)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 62

MalaCards integrated aliases for Retinitis Pigmentosa 62:

Name: Retinitis Pigmentosa 62 56 12 73 29 13 6 15 71
Rp62 56 12 73
Retinitis Pigmentosa, Type 62 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in the 3rd decade of life or later


HPO:

31
retinitis pigmentosa 62:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110380
OMIM 56 614181
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C3280042
UMLS 71 C3280042

Summaries for Retinitis Pigmentosa 62

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 62: 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 62, also known as rp62, is related to retinitis pigmentosa 59 and zellweger spectrum disorder. An important gene associated with Retinitis Pigmentosa 62 is MAK (Male Germ Cell Associated Kinase), and among its related pathways/superpathways is Peroxisome. Affiliated tissues include eye, retina 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 MAK gene on chromosome 6p24.2.

More information from OMIM: 614181 PS268000

Related Diseases for Retinitis Pigmentosa 62

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 62 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 59 10.1 PEX1 NDUFAF5
2 zellweger spectrum disorder 10.0 PEX2 PEX1
3 gyrate atrophy of choroid and retina 10.0 SLC25A15 MAK
4 peroxisome biogenesis disorder 1a 10.0 PEX2 PEX1
5 ornithine transcarbamylase deficiency, hyperammonemia due to 10.0 SLC25A15 NDUFAF5
6 chondrodysplasia punctata syndrome 10.0 PEX2 PEX1
7 peroxisomal biogenesis disorder 9.9 PEX2 PEX1
8 neonatal adrenoleukodystrophy 9.9 PEX2 PEX1
9 refsum disease, classic 9.8 PEX2 PEX1
10 peroxisomal disease 9.7 PEX2 PEX1
11 leukodystrophy 9.6 PEX2 PEX1 NDUFAF5
12 rhizomelic chondrodysplasia punctata 9.6 PEX2 PEX1
13 epidermolysis bullosa, junctional, herlitz type 8.4 VRK1 SLC35A3 SLC25A15 PEX2 PEX1 NDUFAF5

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 62:



Diseases related to Retinitis Pigmentosa 62

Symptoms & Phenotypes for Retinitis Pigmentosa 62

Human phenotypes related to Retinitis Pigmentosa 62:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 nyctalopia 31 HP:0000662
3 visual field defect 31 HP:0001123
4 optic disc pallor 31 HP:0000543

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic disc pallor
night blindness
attenuated vessels
visual field defects (severe in some patients)
visual acuity, relatively preserved
more

Clinical features from OMIM:

614181

Drugs & Therapeutics for Retinitis Pigmentosa 62

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 62

Genetic Tests for Retinitis Pigmentosa 62

Genetic tests related to Retinitis Pigmentosa 62:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 62 29 MAK

Anatomical Context for Retinitis Pigmentosa 62

MalaCards organs/tissues related to Retinitis Pigmentosa 62:

40
Eye, Retina, Bone

Publications for Retinitis Pigmentosa 62

Articles related to Retinitis Pigmentosa 62:

# Title Authors PMID Year
1
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. 56 6
21835304 2011
2
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. 56 6
21825139 2011
3
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
4
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
5
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
6
Application of an empirically derived growth curve model to characterize Staphylococcus epidermidis biofilm development on silicone elastomer. 61
2611313 1989

Variations for Retinitis Pigmentosa 62

ClinVar genetic disease variations for Retinitis Pigmentosa 62:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAK MAK, 353-BP ALU INS, EX9insertion Pathogenic 29780
2 MAK NM_005906.5(MAK):c.718C>T (p.Gln240Ter)SNV Pathogenic 29781 rs779514800 6:10802238-10802238 6:10802005-10802005
3 MAK NM_005906.5(MAK):c.388A>C (p.Asn130His)SNV Pathogenic 29782 rs387906646 6:10809146-10809146 6:10808913-10808913
4 MAK NM_005906.5(MAK):c.37G>A (p.Gly13Ser)SNV Pathogenic 29783 rs387906647 6:10830845-10830845 6:10830612-10830612
5 MAK NM_005906.5(MAK):c.497G>A (p.Arg166His)SNV Pathogenic 29784 rs387906648 6:10804119-10804119 6:10803886-10803886
6 MAK NM_001242957.2(MAK):c.1715T>C (p.Ile572Thr)SNV Conflicting interpretations of pathogenicity 194362 rs79544660 6:10770421-10770421 6:10770188-10770188

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 62:

73
# Symbol AA change Variation ID SNP ID
1 MAK p.Gly13Ser VAR_066988 rs387906647
2 MAK p.Gly27Arg VAR_066989 rs754916169
3 MAK p.Asn130His VAR_066990 rs387906646
4 MAK p.Arg166His VAR_066991 rs387906648
5 MAK p.Ile181Thr VAR_066992 rs750559316

Expression for Retinitis Pigmentosa 62

Search GEO for disease gene expression data for Retinitis Pigmentosa 62.

Pathways for Retinitis Pigmentosa 62

Pathways related to Retinitis Pigmentosa 62 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.54 PEX2 PEX1

GO Terms for Retinitis Pigmentosa 62

Cellular components related to Retinitis Pigmentosa 62 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisomal membrane GO:0005778 8.96 PEX2 PEX1
2 photoreceptor inner segment GO:0001917 8.62 RDH12 MAK

Biological processes related to Retinitis Pigmentosa 62 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein targeting to peroxisome GO:0006625 9.26 PEX2 PEX1
2 photoreceptor cell maintenance GO:0045494 9.16 RDH12 MAK
3 peroxisome organization GO:0007031 8.96 PEX2 PEX1
4 protein import into peroxisome matrix GO:0016558 8.62 PEX2 PEX1

Sources for Retinitis Pigmentosa 62

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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