RP62
MCID: RTN146
MIFTS: 28

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 58 12 76 30 13 6 15 74
Rp62 58 12 76
Retinitis Pigmentosa, Type 62 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
retinitis pigmentosa 62:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110380
OMIM 58 614181
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C3280042
UMLS 74 C3280042

Summaries for Retinitis Pigmentosa 62

UniProtKB/Swiss-Prot : 76 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, is also known as rp62. An important gene associated with Retinitis Pigmentosa 62 is MAK (Male Germ Cell Associated Kinase). Affiliated tissues include bone and eye, and related phenotypes are nyctalopia and visual field defect

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the MAK gene on chromosome 6p24.2.

Description from OMIM: 614181

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
Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 62

Human phenotypes related to Retinitis Pigmentosa 62:

33
# Description HPO Frequency HPO Source Accession
1 nyctalopia 33 HP:0000662
2 visual field defect 33 HP:0001123
3 rod-cone dystrophy 33 HP:0000510
4 optic disc pallor 33 HP:0000543

Symptoms via clinical synopsis from OMIM:

58
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

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 62 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.13 AURKA
2 Decreased viability GR00221-A-1 10.13 AURKA MAK
3 Decreased viability GR00221-A-2 10.13 AURKA MAK
4 Decreased viability GR00221-A-4 10.13 AURKA MAK
5 Decreased viability GR00231-A 10.13 AURKA
6 Decreased viability GR00402-S-2 10.13 AURKA MAK
7 Increased cell viability after pRB stimulation GR00230-A-1 8.62 AURKA MAK

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 30 MAK

Anatomical Context for Retinitis Pigmentosa 62

MalaCards organs/tissues related to Retinitis Pigmentosa 62:

42
Bone, Eye

Publications for Retinitis Pigmentosa 62

Articles related to Retinitis Pigmentosa 62:

# Title Authors Year
1
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. ( 21825139 )
2011
2
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. ( 21835304 )
2011

Variations for Retinitis Pigmentosa 62

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

76
# 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

ClinVar genetic disease variations for Retinitis Pigmentosa 62:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAK NM_001242957.2(MAK): c.718C> T (p.Gln240Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 10802238: 10802238
2 MAK MAK, 353-BP ALU INS, EX9 insertion Pathogenic
3 MAK NM_001242957.2(MAK): c.718C> T (p.Gln240Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 10802005: 10802005
4 MAK NM_001242957.2(MAK): c.388A> C (p.Asn130His) single nucleotide variant Pathogenic rs387906646 GRCh37 Chromosome 6, 10809146: 10809146
5 MAK NM_001242957.2(MAK): c.388A> C (p.Asn130His) single nucleotide variant Pathogenic rs387906646 GRCh38 Chromosome 6, 10808913: 10808913
6 MAK NM_001242957.2(MAK): c.37G> A (p.Gly13Ser) single nucleotide variant Pathogenic rs387906647 GRCh37 Chromosome 6, 10830845: 10830845
7 MAK NM_001242957.2(MAK): c.37G> A (p.Gly13Ser) single nucleotide variant Pathogenic rs387906647 GRCh38 Chromosome 6, 10830612: 10830612
8 MAK NM_001242957.2(MAK): c.497G> A (p.Arg166His) single nucleotide variant Pathogenic rs387906648 GRCh37 Chromosome 6, 10804119: 10804119
9 MAK NM_001242957.2(MAK): c.497G> A (p.Arg166His) single nucleotide variant Pathogenic rs387906648 GRCh38 Chromosome 6, 10803886: 10803886
10 MAK NM_001242957.2(MAK): c.1715T> C (p.Ile572Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs79544660 GRCh37 Chromosome 6, 10770421: 10770421
11 MAK NM_001242957.2(MAK): c.1715T> C (p.Ile572Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs79544660 GRCh38 Chromosome 6, 10770188: 10770188

Expression for Retinitis Pigmentosa 62

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

Pathways for Retinitis Pigmentosa 62

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 centrosome GO:0005813 9.37 AURKA MAK
2 microtubule organizing center GO:0005815 9.32 AURKA MAK
3 cilium GO:0005929 9.26 AURKA MAK
4 spindle GO:0005819 9.16 AURKA MAK
5 midbody GO:0030496 8.96 AURKA MAK
6 mitotic spindle GO:0072686 8.62 AURKA MAK

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

# Name GO ID Score Top Affiliating Genes
1 protein autophosphorylation GO:0046777 8.96 AURKA MAK
2 meiotic cell cycle GO:0051321 8.62 AURKA OSGIN2

Molecular functions related to Retinitis Pigmentosa 62 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 8.96 AURKA MAK
2 protein serine/threonine kinase activity GO:0004674 8.62 AURKA MAK

Sources for Retinitis Pigmentosa 62

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
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