MCID: RTN142
MIFTS: 38

Retinitis Pigmentosa 38

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 38

MalaCards integrated aliases for Retinitis Pigmentosa 38:

Name: Retinitis Pigmentosa 38 53 12 71 28 13 14 69
Rp38 53 12 71
Rod-Cone Dystrophy, Childhood-Onset 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in early childhood


HPO:

31
retinitis pigmentosa 38:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613862
Disease Ontology 12 DOID:0110367
ICD10 32 H35.5
MedGen 39 C3151228
MeSH 41 D012174
UMLS 69 C3151228

Summaries for Retinitis Pigmentosa 38

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 38: 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 38, also known as rp38, is related to rhyns syndrome and la crosse encephalitis, and has symptoms including progressive visual loss, nyctalopia and rod-cone dystrophy. An important gene associated with Retinitis Pigmentosa 38 is MERTK (MER Proto-Oncogene, Tyrosine Kinase), and among its related pathways/superpathways are Akt Signaling and PEDF Induced Signaling. Affiliated tissues include eye, bone and retina, and related phenotypes are Decreased cell migration and Increased cell death HMECs cells

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the MERTK gene on chromosome 2q13.

OMIM : 53 Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by Mackay et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. (613862)

Related Diseases for Retinitis Pigmentosa 38

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

# Related Disease Score Top Affiliating Genes
1 rhyns syndrome 10.0 MERTK RPE65
2 la crosse encephalitis 9.8 MERTK TYRO3
3 stargardt disease 9.7 MERTK RPE65

Symptoms & Phenotypes for Retinitis Pigmentosa 38

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
nyctalopia
pale optic discs
decreased visual acuity, progressive
macular atrophy
attenuation of retinal vessels
more

Clinical features from OMIM:

613862

Human phenotypes related to Retinitis Pigmentosa 38:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 31 HP:0000529
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 optic disc pallor 31 HP:0000543
5 macular atrophy 31 HP:0007401
6 peripheral retinal atrophy 31 HP:0200070

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 38 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.33 MERTK PRKCA TYRO3
2 Increased cell death HMECs cells GR00103-A-0 9.26 MERTK NR3C1 PRKCA TYRO3
3 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 8.62 PRKCA TYRO3

MGI Mouse Phenotypes related to Retinitis Pigmentosa 38:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 MERTK NR3C1 PRKCA RPE65 TLR4 TYRO3
2 cardiovascular system MP:0005385 9.77 MERTK NR3C1 PRKCA TLR4 TYRO3
3 integument MP:0010771 9.65 TYRO3 MERTK NR3C1 PRKCA TLR4
4 liver/biliary system MP:0005370 9.46 MERTK NR3C1 TLR4 TYRO3
5 nervous system MP:0003631 9.43 MERTK NR3C1 PRKCA RPE65 TLR4 TYRO3
6 pigmentation MP:0001186 8.8 MERTK RPE65 TLR4

Drugs & Therapeutics for Retinitis Pigmentosa 38

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 38

Genetic Tests for Retinitis Pigmentosa 38

Genetic tests related to Retinitis Pigmentosa 38:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 38 28 MERTK

Anatomical Context for Retinitis Pigmentosa 38

MalaCards organs/tissues related to Retinitis Pigmentosa 38:

38
Eye, Bone, Retina

Publications for Retinitis Pigmentosa 38

Variations for Retinitis Pigmentosa 38

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 38:

71
# Symbol AA change Variation ID SNP ID
1 MERTK p.Glu540Lys VAR_021046 rs113485015
2 MERTK p.Ser661Cys VAR_021047
3 MERTK p.Ile871Thr VAR_021048 rs377341255

ClinVar genetic disease variations for Retinitis Pigmentosa 38:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 MERTK MERTK, 9-KB DEL deletion Pathogenic
2 MERTK MERTK, IVS1, G-A, +1 single nucleotide variant Pathogenic
3 MERTK MERTK, 91-KB DEL deletion Pathogenic
4 MERTK NM_006343.2(MERTK): c.2323C> T (p.Arg775Ter) single nucleotide variant Pathogenic rs387907314 GRCh37 Chromosome 2, 112779132: 112779132
5 MERTK NM_006343.2(MERTK): c.370C> T (p.Gln124Ter) single nucleotide variant Likely pathogenic rs527236134 GRCh38 Chromosome 2, 111929428: 111929428
6 MERTK MERTK, 5-BP DEL, NT2070 deletion Pathogenic
7 MERTK NM_006343.2(MERTK): c.1605-2A> G single nucleotide variant Pathogenic rs730880273 GRCh37 Chromosome 2, 112758776: 112758776
8 MERTK NM_006343.2(MERTK): c.1951C> T (p.Arg651Ter) single nucleotide variant Pathogenic rs119489105 GRCh37 Chromosome 2, 112766043: 112766043
9 MERTK NM_006343.2(MERTK): c.2189+1G> T single nucleotide variant Pathogenic rs371956016 GRCh37 Chromosome 2, 112777100: 112777100
10 MERTK NM_006343.2(MERTK): c.2192T> C (p.Leu731Ser) single nucleotide variant Likely pathogenic rs863224894 GRCh37 Chromosome 2, 112779001: 112779001
11 MERTK NM_006343.2: c.-8163_c.1145-1213del deletion Pathogenic
12 MERTK NM_006343.2(MERTK): c.584-1G> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 111947393: 111947393

Expression for Retinitis Pigmentosa 38

Search GEO for disease gene expression data for Retinitis Pigmentosa 38.

Pathways for Retinitis Pigmentosa 38

GO Terms for Retinitis Pigmentosa 38

Biological processes related to Retinitis Pigmentosa 38 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.5 MERTK PRKCA TYRO3
2 apoptotic signaling pathway GO:0097190 9.48 PRKCA TLR4
3 retina development in camera-type eye GO:0060041 9.46 MERTK RPE65
4 protein kinase B signaling GO:0043491 9.43 MERTK TYRO3
5 substrate adhesion-dependent cell spreading GO:0034446 9.4 MERTK TYRO3
6 apoptotic cell clearance GO:0043277 9.37 MERTK TYRO3
7 secretion by cell GO:0032940 9.26 MERTK TYRO3
8 vagina development GO:0060068 9.16 MERTK TYRO3
9 natural killer cell differentiation GO:0001779 8.96 MERTK TYRO3
10 negative regulation of lymphocyte activation GO:0051250 8.62 MERTK TYRO3

Molecular functions related to Retinitis Pigmentosa 38 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.13 MERTK PRKCA TYRO3
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.62 MERTK TYRO3

Sources for Retinitis Pigmentosa 38

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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