MCID: RTN142
MIFTS: 38

Retinitis Pigmentosa 38

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 38

MalaCards integrated aliases for Retinitis Pigmentosa 38:

Name: Retinitis Pigmentosa 38 57 12 75 29 13 6 15 73
Rp38 57 12 75
Rod-Cone Dystrophy, Childhood-Onset 57
Retinitis Pigmentosa, Type 38 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in early childhood


HPO:

32
retinitis pigmentosa 38:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613862
Disease Ontology 12 DOID:0110367
ICD10 33 H35.5
MedGen 42 C3151228
MeSH 44 D012174
UMLS 73 C3151228

Summaries for Retinitis Pigmentosa 38

UniProtKB/Swiss-Prot : 75 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 la crosse encephalitis and stargardt disease. 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, retina and bone, and related phenotypes are rod-cone dystrophy and progressive visual loss

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

OMIM : 57 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 la crosse encephalitis 9.8 MERTK TYRO3
2 stargardt disease 9.6 MERTK RPE65

Symptoms & Phenotypes for Retinitis Pigmentosa 38

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nyctalopia
pale optic discs
decreased visual acuity, progressive
macular atrophy
color vision deficits (in some patients)
more

Clinical features from OMIM:

613862

Human phenotypes related to Retinitis Pigmentosa 38:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 progressive visual loss 32 HP:0000529
3 optic disc pallor 32 HP:0000543
4 nyctalopia 32 HP:0000662
5 macular atrophy 32 HP:0007401
6 peripheral retinal atrophy 32 HP:0200070

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 NR3C1 PRKCA RPE65 TLR4 TYRO3 MERTK
2 cardiovascular system MP:0005385 9.77 MERTK NR3C1 PRKCA TLR4 TYRO3
3 integument MP:0010771 9.65 MERTK NR3C1 PRKCA TLR4 TYRO3
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 29 MERTK

Anatomical Context for Retinitis Pigmentosa 38

MalaCards organs/tissues related to Retinitis Pigmentosa 38:

41
Eye, Retina, Bone

Publications for Retinitis Pigmentosa 38

Variations for Retinitis Pigmentosa 38

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

75
# 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 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 MERTK NM_006343.2(MERTK): c.1951C> T (p.Arg651Ter) single nucleotide variant Pathogenic rs119489105 GRCh37 Chromosome 2, 112766043: 112766043
2 MERTK NM_006343.2(MERTK): c.1951C> T (p.Arg651Ter) single nucleotide variant Pathogenic rs119489105 GRCh38 Chromosome 2, 112008466: 112008466
3 MERTK MERTK, 5-BP DEL, NT2070 deletion Pathogenic
4 MERTK NM_006343.2(MERTK): c.1605-2A> G single nucleotide variant Pathogenic rs730880273 GRCh37 Chromosome 2, 112758776: 112758776
5 MERTK NM_006343.2(MERTK): c.1605-2A> G single nucleotide variant Pathogenic rs730880273 GRCh38 Chromosome 2, 112001199: 112001199
6 MERTK NM_006343.2(MERTK): c.2189+1G> T single nucleotide variant Pathogenic rs371956016 GRCh37 Chromosome 2, 112777100: 112777100
7 MERTK NM_006343.2(MERTK): c.2189+1G> T single nucleotide variant Pathogenic rs371956016 GRCh38 Chromosome 2, 112019523: 112019523
8 MERTK NM_006343.2(MERTK): c.2323C> T (p.Arg775Ter) single nucleotide variant Pathogenic rs387907314 GRCh37 Chromosome 2, 112779132: 112779132
9 MERTK NM_006343.2(MERTK): c.2323C> T (p.Arg775Ter) single nucleotide variant Pathogenic rs387907314 GRCh38 Chromosome 2, 112021555: 112021555
10 MERTK MERTK, 9-KB DEL deletion Pathogenic
11 MERTK MERTK, IVS1, G-A, +1 single nucleotide variant Pathogenic
12 MERTK MERTK, 91-KB DEL deletion Pathogenic
13 MERTK NM_006343.2(MERTK): c.370C> T (p.Gln124Ter) single nucleotide variant Likely pathogenic rs527236134 GRCh38 Chromosome 2, 111929428: 111929428
14 MERTK NM_006343.2(MERTK): c.370C> T (p.Gln124Ter) single nucleotide variant Likely pathogenic rs527236134 GRCh37 Chromosome 2, 112687005: 112687005
15 MERTK NM_006343.2(MERTK): c.2192T> C (p.Leu731Ser) single nucleotide variant Likely pathogenic rs863224894 GRCh37 Chromosome 2, 112779001: 112779001
16 MERTK NM_006343.2(MERTK): c.2192T> C (p.Leu731Ser) single nucleotide variant Likely pathogenic rs863224894 GRCh38 Chromosome 2, 112021424: 112021424
17 MERTK NM_006343.2: c.-8163_c.1145-1213del deletion Pathogenic
18 MERTK NM_006343.2(MERTK): c.584-1G> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 112704970: 112704970
19 MERTK NM_006343.2(MERTK): c.584-1G> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 111947393: 111947393
20 MERTK NM_006343.2(MERTK): c.1296+5G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 111982998: 111982998
21 MERTK NM_006343.2(MERTK): c.1296+5G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 112740575: 112740575
22 MERTK NM_006343.2(MERTK): c.2486+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 2, 112022395: 112022395
23 MERTK NM_006343.2(MERTK): c.2486+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 2, 112779972: 112779972

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

Cellular components related to Retinitis Pigmentosa 38 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 MERTK TLR4 TYRO3

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.54 MERTK PRKCA TYRO3
2 apoptotic signaling pathway GO:0097190 9.52 PRKCA TLR4
3 positive regulation of kinase activity GO:0033674 9.51 MERTK TYRO3
4 retina development in camera-type eye GO:0060041 9.49 MERTK RPE65
5 phagocytosis GO:0006909 9.48 MERTK TYRO3
6 protein kinase B signaling GO:0043491 9.46 MERTK TYRO3
7 substrate adhesion-dependent cell spreading GO:0034446 9.43 MERTK TYRO3
8 apoptotic cell clearance GO:0043277 9.4 MERTK TYRO3
9 vagina development GO:0060068 9.32 MERTK TYRO3
10 natural killer cell differentiation GO:0001779 9.26 MERTK TYRO3
11 secretion by cell GO:0032940 9.16 MERTK TYRO3
12 negative regulation of lymphocyte activation GO:0051250 8.96 MERTK TYRO3
13 positive regulation of ERK1 and ERK2 cascade GO:0070374 8.92 MERTK PRKCA TLR4 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 9.5 MERTK PRKCA TYRO3
2 MAP kinase kinase kinase activity GO:0004709 9.26 MERTK TYRO3
3 mitogen-activated protein kinase kinase binding GO:0031434 9.16 MERTK TYRO3
4 transmembrane signaling receptor activity GO:0004888 9.13 MERTK TLR4 TYRO3
5 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
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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