MCID: RTN146
MIFTS: 27

Retinitis Pigmentosa 62

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 62

MalaCards integrated aliases for Retinitis Pigmentosa 62:

Name: Retinitis Pigmentosa 62 53 12 71 28 13 14 69
Rp62 53 12 71

Characteristics:

OMIM:

53
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:

OMIM 53 614181
Disease Ontology 12 DOID:0110380
ICD10 32 H35.5
MedGen 39 C3280042
MeSH 41 D012174
UMLS 69 C3280042

Summaries for Retinitis Pigmentosa 62

UniProtKB/Swiss-Prot : 71 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, and has symptoms including nyctalopia, visual field defect and rod-cone dystrophy. 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 Decreased viability and Decreased viability

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 Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 62

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
night blindness
visual field defects (severe in some patients)
visual acuity, relatively preserved
cataracts, congenital (in some patients)
diffuse or localized pigmentary changes, with bone spicules in some patients
more

Clinical features from OMIM:

614181

Human phenotypes related to Retinitis Pigmentosa 62:

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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.03 AURKA
2 Decreased viability GR00221-A-1 10.03 MAK AURKA
3 Decreased viability GR00221-A-2 10.03 MAK AURKA
4 Decreased viability GR00221-A-4 10.03 AURKA MAK
5 Decreased viability GR00231-A 10.03 AURKA
6 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 28 MAK

Anatomical Context for Retinitis Pigmentosa 62

MalaCards organs/tissues related to Retinitis Pigmentosa 62:

38
Bone, Eye

Publications for Retinitis Pigmentosa 62

Variations for Retinitis Pigmentosa 62

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 MAK MAK, 353-BP ALU INS, EX9 insertion Pathogenic
2 MAK MAK, GLY240TER single nucleotide variant Pathogenic
3 MAK NM_001242957.2(MAK): c.388A> C (p.Asn130His) single nucleotide variant Pathogenic rs387906646 GRCh37 Chromosome 6, 10809146: 10809146
4 MAK NM_001242957.2(MAK): c.37G> A (p.Gly13Ser) single nucleotide variant Pathogenic rs387906647 GRCh37 Chromosome 6, 10830845: 10830845
5 MAK NM_001242957.2(MAK): c.497G> A (p.Arg166His) single nucleotide variant Pathogenic rs387906648 GRCh37 Chromosome 6, 10804119: 10804119
6 MAK NM_001242957.2(MAK): c.170_171delTT (p.Leu57Glnfs) deletion Pathogenic rs886043417 GRCh37 Chromosome 6, 10818190: 10818191

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
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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