MCID: RTN146
MIFTS: 27

Retinitis Pigmentosa 62

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 62

MalaCards integrated aliases for Retinitis Pigmentosa 62:

Name: Retinitis Pigmentosa 62 57 12 75 29 13 6 15 73
Rp62 57 12 75
Retinitis Pigmentosa, Type 62 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
retinitis pigmentosa 62:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614181
Disease Ontology 12 DOID:0110380
ICD10 33 H35.5
MedGen 42 C3280042
MeSH 44 D012174
UMLS 73 C3280042

Summaries for Retinitis Pigmentosa 62

UniProtKB/Swiss-Prot : 75 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 rod-cone dystrophy and optic disc pallor

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:

57
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:

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 visual field defect 32 HP:0001123

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

26
# 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 MAK AURKA
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 29 MAK

Anatomical Context for Retinitis Pigmentosa 62

MalaCards organs/tissues related to Retinitis Pigmentosa 62:

41
Bone, Eye

Publications for Retinitis Pigmentosa 62

Variations for Retinitis Pigmentosa 62

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

75
# 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 12)
# 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.388A> C (p.Asn130His) single nucleotide variant Pathogenic rs387906646 GRCh38 Chromosome 6, 10808913: 10808913
5 MAK NM_001242957.2(MAK): c.37G> A (p.Gly13Ser) single nucleotide variant Pathogenic rs387906647 GRCh37 Chromosome 6, 10830845: 10830845
6 MAK NM_001242957.2(MAK): c.37G> A (p.Gly13Ser) single nucleotide variant Pathogenic rs387906647 GRCh38 Chromosome 6, 10830612: 10830612
7 MAK NM_001242957.2(MAK): c.497G> A (p.Arg166His) single nucleotide variant Pathogenic rs387906648 GRCh37 Chromosome 6, 10804119: 10804119
8 MAK NM_001242957.2(MAK): c.497G> A (p.Arg166His) single nucleotide variant Pathogenic rs387906648 GRCh38 Chromosome 6, 10803886: 10803886
9 MAK NM_001242957.2(MAK): c.1715T> C (p.Ile572Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs79544660 GRCh37 Chromosome 6, 10770421: 10770421
10 MAK NM_001242957.2(MAK): c.1715T> C (p.Ile572Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs79544660 GRCh38 Chromosome 6, 10770188: 10770188
11 MAK NM_001242957.2(MAK): c.170_171delTT (p.Leu57Glnfs) deletion Pathogenic rs886043417 GRCh37 Chromosome 6, 10818190: 10818191
12 MAK NM_001242957.2(MAK): c.170_171delTT (p.Leu57Glnfs) deletion Pathogenic rs886043417 GRCh38 Chromosome 6, 10817957: 10817958

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 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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